diff --git a/CHANGELOG.rst b/CHANGELOG.rst
index ac68fbe..2b1f358 100644
--- a/CHANGELOG.rst
+++ b/CHANGELOG.rst
@@ -1,6 +1,20 @@
 Changelog
 ============
 
+0.5.5 - Sulfur Io  (2024-09-09)
+---------------------------------------------
+
+**Added**
+
+**Fixed**
+
+* [#52](https://github.com/qbic-pipelines/querynator/issues/52): issue that lead to an inconsitent number of fields for the CIViC evidences
+* [#51](https://github.com/qbic-pipelines/querynator/issues/51): CGI evidences are now filtered by the specified cancer type
+
+**Dependencies**
+
+**Deprecated**
+
 0.5.4 - Sulfur Io  (2024-07-24)
 ---------------------------------------------
 
diff --git a/docs/usage.rst b/docs/usage.rst
index 06ee7f1..1ef5f29 100644
--- a/docs/usage.rst
+++ b/docs/usage.rst
@@ -277,7 +277,7 @@ The command above generates the following result directory:
     outdir
     ├── combined_files
     |   ├── alterations_vep.tsv
-    |   ├── biomarkers_linked.tsv
+    |   ├── biomarkers_linked_filtered.tsv
     |   ├── civic_cgi_vep.tsv
     |   └── civic_vep.tsv
     ├── report
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results.zip b/example_files/cgi_test_out/cgi_test_out.cgi_results.zip
index cae1f5e..77bc877 100644
Binary files a/example_files/cgi_test_out/cgi_test_out.cgi_results.zip and b/example_files/cgi_test_out/cgi_test_out.cgi_results.zip differ
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results/alterations.tsv b/example_files/cgi_test_out/cgi_test_out.cgi_results/alterations.tsv
index ec3ecd0..0051858 100644
--- a/example_files/cgi_test_out/cgi_test_out.cgi_results/alterations.tsv
+++ b/example_files/cgi_test_out/cgi_test_out.cgi_results/alterations.tsv
@@ -1,89 +1,89 @@
-Input ID	CHROMOSOME	POSITION	REF	ALT	#CHROM	POS	ID	QUAL	FILTER	INFO	ALT_TYPE	STRAND	CGI-INFO	CGI-Gene	CGI-Protein Change	CGI-Oncogenic Summary	CGI-Oncogenic Prediction	CGI-External oncogenic annotation	CGI-Mutation	CGI-Consequence	CGI-Transcript	CGI-STRAND	CGI-Type
-input01_1	1	11169361	C	G	1	11169361	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3744699	snp	+	input01	MTOR	R2505P	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar	chr1:11169361 C>G	missense_variant	ENST00000361445	+	SNV
-input01_2	1	11169375	A	C	1	11169375	.	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7734825	snp	+	input01	MTOR	I2500M	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb	chr1:11169375 A>C	missense_variant	ENST00000361445	+	SNV
-input01_3	1	11169377	T	A	1	11169377	.	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4990350	snp	+	input01	MTOR	I2500F	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar	chr1:11169377 T>A	missense_variant	ENST00000361445	+	SNV
-input01_4	1	11174420	C	T	1	11174420	.	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4246169	snp	+	input01	MTOR	E2419K	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar	chr1:11174420 C>T	missense_variant	ENST00000361445	+	SNV
-input01_5	1	11182179	G	T	1	11182179	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2388004	snp	+	input01	MTOR	Q2223K	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar	chr1:11182179 G>T	missense_variant	ENST00000361445	+	SNV
-input01_6	1	11184573	G	A	1	11184573	.	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1527345	snp	+	input01	MTOR	S2215F	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb	chr1:11184573 G>A	missense_variant	ENST00000361445	+	SNV
-input01_7	1	11184573	G	T	1	11184573	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6270252	snp	+	input01	MTOR	S2215Y	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb	chr1:11184573 G>T	missense_variant	ENST00000361445	+	SNV
-input01_8	1	11184574	A	T	1	11184574	.	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3102092	snp	+	input01	MTOR	S2215T	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar	chr1:11184574 A>T	missense_variant	ENST00000361445	+	SNV
-input01_9	1	11184580	G	A	1	11184580	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1746155	snp	+	input01	MTOR	P2213S	oncogenic (predicted)	driver (oncodriveMUT)		chr1:11184580 G>A	missense_variant	ENST00000361445	+	SNV
-input01_10	1	11187094	G	T	1	11187094	.	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=1313945	snp	+	input01	MTOR	F2108L	oncogenic (predicted)	driver (oncodriveMUT)		chr1:11187094 G>T	missense_variant	ENST00000361445	+	SNV
-input01_11	1	11187857	C	T	1	11187857	.	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3236047	snp	+	input01	MTOR	E2014K	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar	chr1:11187857 C>T	missense_variant	ENST00000361445	+	SNV
-input01_12	1	11188519	G	A	1	11188519	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8700937	snp	+	input01	MTOR	H1968Y	oncogenic (predicted)	driver (oncodriveMUT)		chr1:11188519 G>A	missense_variant	ENST00000361445	+	SNV
-input01_13	1	11217229	G	C	1	11217229	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5108921	snp	+	input01	MTOR	C1483W	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar	chr1:11217229 G>C	missense_variant	ENST00000361445	+	SNV
-input01_14	1	11217230	C	A	1	11217230	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3380766	snp	+	input01	MTOR	C1483F	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb	chr1:11217230 C>A	missense_variant	ENST00000361445	+	SNV
-input01_15	1	11217230	C	T	1	11217230	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2978136	snp	+	input01	MTOR	C1483Y	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb	chr1:11217230 C>T	missense_variant	ENST00000361445	+	SNV
-input01_16	1	11217231	A	G	1	11217231	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1606415	snp	+	input01	MTOR	C1483R	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb	chr1:11217231 A>G	missense_variant	ENST00000361445	+	SNV
-input01_17	1	11217299	A	G	1	11217299	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9704791	snp	+	input01	MTOR	L1460P	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb	chr1:11217299 A>G	missense_variant	ENST00000361445	+	SNV
-input01_18	1	11856378	G	A	1	11856378	.	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=9915688	snp	+	input01	MTHFR	A263V	non-oncogenic	passenger (oncodriveMUT)		chr1:11856378 G>A	missense_variant	ENST00000376585	+	SNV
-input01_19	1	16458722	C	T	1	16458722	.	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=2437215	snp	+	input01	EPHA2	R721Q	oncogenic (predicted)	driver (oncodriveMUT)		chr1:16458722 C>T	missense_variant	ENST00000358432	+	SNV
-input01_20	1	16464489	C	G	1	16464489	.	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=5087472	snp	+	input01	EPHA2	G391R	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar	chr1:16464489 C>G	missense_variant	ENST00000358432	+	SNV
-input01_21	1	16464489	C	T	1	16464489	.	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=7008926	snp	+	input01	EPHA2	G391R	non-oncogenic	passenger (oncodriveMUT)		chr1:16464489 C>T	missense_variant	ENST00000358432	+	SNV
-input01_22	1	23235518	G	A	1	23235518	.	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8708707	snp	+	input01	EPHB2	G786R	oncogenic (predicted and annotated)	driver (oncodriveMUT)	clinvar	chr1:23235518 G>A	missense_variant	ENST00000400191	+	SNV
-input01_23	1	36933434	G	A	1	36933434	.	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=6671862	snp	+	input01	CSF3R	T618I	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb	chr1:36933434 G>A	missense_variant	ENST00000373103	+	SNV
-input01_24	1	36933444	T	C	1	36933444	.	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=4711307	snp	+	input01	CSF3R	T615A	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar	chr1:36933444 T>C	missense_variant	ENST00000373103	+	SNV
-input01_25	1	43814978	A	T	1	43814978	.	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=9112045	snp	+	input01	MPL	S505C	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar	chr1:43814978 A>T	missense_variant	ENST00000372470	+	SNV
-input01_26	1	43814979	G	A	1	43814979	.	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=5288713	snp	+	input01	MPL	S505N	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb	chr1:43814979 G>A	missense_variant	ENST00000372470	+	SNV
-input01_27	1	43815009	G	T	1	43815009	.	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=4722228	snp	+	input01	MPL	W515L	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb	chr1:43815009 G>T	missense_variant	ENST00000372470	+	SNV
-input01_28	1	65312347	C	A	1	65312347	.	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=2491223	snp	+	input01	JAK1	V658F	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar	chr1:65312347 C>A	missense_variant	ENST00000672434	+	SNV
-input01_29	1	65312382	G	A	1	65312382	.	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=8899969	snp	+	input01	JAK1	S646F	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar	chr1:65312382 G>A	missense_variant	ENST00000672434	+	SNV
-input01_30	1	65312418	G	T	1	65312418	.	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=1538728	snp	+	input01	JAK1	A634D	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb	chr1:65312418 G>T	missense_variant	ENST00000672434	+	SNV
-input01_31	1	115256528	T	A	1	115256528	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4658766	snp	+	input01	NRAS	Q61H	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb	chr1:115256528 T>A	missense_variant	ENST00000369535	+	SNV
-input01_32	1	115256528	T	G	1	115256528	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4115311	snp	+	input01	NRAS	Q61H	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb,clinvar	chr1:115256528 T>G	missense_variant	ENST00000369535	+	SNV
-input01_33	1	115256528	TT	CA	1	115256528	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=8393236	mnp	+	input01	NRAS	Q61L	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar	chr1:115256528-115256529 TT>CA	missense_variant	ENST00000369535	+	MNV
-input01_34	1	115256528	TT	CC	1	115256528	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=2428627	mnp	+	input01	NRAS	Q61R	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar	chr1:115256528-115256529 TT>CC	missense_variant	ENST00000369535	+	MNV
-input01_35	1	115256529	T	A	1	115256529	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4927461	snp	+	input01	NRAS	Q61L	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb	chr1:115256529 T>A	missense_variant	ENST00000369535	+	SNV
-input01_36	1	115256529	T	C	1	115256529	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3564378	snp	+	input01	NRAS	Q61R	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb	chr1:115256529 T>C	missense_variant	ENST00000369535	+	SNV
-input01_37	1	115256529	TG	CT	1	115256529	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=8880916	mnp	+	input01	NRAS	Q61R	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar	chr1:115256529-115256530 TG>CT	missense_variant	ENST00000369535	+	MNV
-input01_38	1	115256529	T	G	1	115256529	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7049806	snp	+	input01	NRAS	Q61P	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr1:115256529 T>G	missense_variant	ENST00000369535	+	SNV
-input01_39	1	115256530	G	A	1	115256530	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1923576	snp	+	input01	NRAS	Q61*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar	chr1:115256530 G>A	stop_gained	ENST00000369535	+	SNV
-input01_40	1	115256530	G	C	1	115256530	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3726287	snp	+	input01	NRAS	Q61E	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar	chr1:115256530 G>C	missense_variant	ENST00000369535	+	SNV
-input01_41	1	115256530	G	T	1	115256530	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,234145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(predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr1:115256530 G>T	missense_variant	ENST00000369535	+	SNV
-input01_42	1	115258730	C	T	1	115258730	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9146704	snp	+	input01	NRAS	A18T	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar	chr1:115258730 C>T	missense_variant	ENST00000369535	+	SNV
-input01_43	1	115258744	C	A	1	115258744	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4683735	snp	+	input01	NRAS	G13V	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar	chr1:115258744 C>A	missense_variant	ENST00000369535	+	SNV
-input01_44	1	115258744	C	G	1	115258744	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5046267	snp	+	input01	NRAS	G13A	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar	chr1:115258744 C>G	missense_variant	ENST00000369535	+	SNV
-input01_45	1	115258744	C	T	1	115258744	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1004259	snp	+	input01	NRAS	G13D	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr1:115258744 C>T	missense_variant	ENST00000369535	+	SNV
-input01_46	1	115258745	C	A	1	115258745	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2321116	snp	+	input01	NRAS	G13C	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar	chr1:115258745 C>A	missense_variant	ENST00000369535	+	SNV
-input01_47	1	115258745	C	G	1	115258745	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5441901	snp	+	input01	NRAS	G13R	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr1:115258745 C>G	missense_variant	ENST00000369535	+	SNV
-input01_48	1	115258745	C	T	1	115258745	.	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2666427	snp	+	input01	NRAS	G13S	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar	chr1:115258745 C>T	missense_variant	ENST00000369535	+	SNV
-input01_49	1	115258747	C	A	1	115258747	.	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9188595	snp	+	input01	NRAS	G12V	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr1:115258747 C>A	missense_variant	ENST00000369535	+	SNV
-input01_50	1	115258747	C	G	1	115258747	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7339764	snp	+	input01	NRAS	G12A	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr1:115258747 C>G	missense_variant	ENST00000369535	+	SNV
-input01_51	1	115258747	C	T	1	115258747	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6610279	snp	+	input01	NRAS	G12D	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr1:115258747 C>T	missense_variant	ENST00000369535	+	SNV
-input01_52	7	55221821	GC	AA	7	55221821	.	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=1768798	mnp	+	input01	EGFR	A289N	oncogenic (predicted and annotated)	driver (oncodriveMUT)	clinvar	chr7:55221821-55221822 GC>AA	missense_variant	ENST00000275493	+	MNV
-input01_53	7	55221822	C	A	7	55221822	.	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3892747	snp	+	input01	EGFR	A289D	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb,clinvar	chr7:55221822 C>A	missense_variant	ENST00000275493	+	SNV
-input01_54	9	80409488	T	C	9	80409488	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3098257	snp	+	input01	GNAQ	Q209R	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar	chr9:80409488 T>C	missense_variant	ENST00000286548	+	SNV
-input01_55	9	80409488	TG	AA	9	80409488	.	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=6921082	mnp	+	input01	GNAQ	Q209L	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar	chr9:80409488-80409489 TG>AA	missense_variant	ENST00000286548	+	MNV
-input01_56	10	43609078	TTCCCTGAGGAGGAGAAGTGCTTCTGC	-	10	43609077	.	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=8038054	indel	+	input01	RET	FPEEEKCFC612-620-	non-oncogenic	passenger (oncodriveMUT)		chr10:43609078-43609078 TTCCCTGAGGAGGAGAAGTGCTTCTGC>-	inframe_deletion	ENST00000355710	+	DEL
-input01_57	11	534289	C	T	11	534289	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=4587089	snp	+	input01	HRAS	G12S	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr11:534289 C>T	missense_variant	ENST00000451590	+	SNV
-input01_58	11	8457665	A	C	11	8457665	.	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=5416609	snp	+	input01	STK33	F323L	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar	chr11:8457665 A>C	missense_variant	ENST00000447869	+	SNV
-input01_59	11	32417908	-	ACCGTACA	11	32417908	.	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=5798338	indel	+	input01	WT1	-386-387CTX	non-oncogenic	passenger (oncodriveMUT)		chr11:32417908-32417909 ->ACCGTACA	frameshift_variant	ENST00000452863	+	INS
-input01_60	11	65830499	A	C	11	65830499	.	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1782742	snp	+	input01	SF3B2	H666P	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar	chr11:65830499 A>C	missense_variant	ENST00000322535	+	SNV
-input01_61	11	65830884	A	G	11	65830884	.	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=8563176	snp	+	input01	SF3B2	E700G	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar	chr11:65830884 A>G	missense_variant	ENST00000322535	+	SNV
-input01_62	11	67352689	A	G	11	67352689	.	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=1154749	snp	+	input01	GSTP1	I105V	non-oncogenic	passenger (oncodriveMUT)		chr11:67352689 A>G	missense_variant	ENST00000398606	+	SNV
-input01_63	11	108218044	A	C	11	108218044	.	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=3561112	snp	+	input01	ATM	N2875H	oncogenic (predicted)	driver (boostDM: non-tissue-specific model)		chr11:108218044 A>C	missense_variant	ENST00000278616	+	SNV
-input01_64	13	48955550	C	T	13	48955550	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2889115	snp	+	input01	RB1	R556*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr13:48955550 C>T	stop_gained	ENST00000267163	+	SNV
-input01_65	13	49027168	C	T	13	49027168	.	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=4495364	snp	+	input01	RB1	R579*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr13:49027168 C>T	stop_gained	ENST00000267163	+	SNV
-input01_66	13	49037877	G	T	13	49037877	.	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=5303302	snp	+	input01	RB1	C706F	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar	chr13:49037877 G>T	missense_variant	ENST00000267163	+	SNV
-input01_67	13	49039164	G	T	13	49039164	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=9336397	snp	+	input01	RB1	E748*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr13:49039164 G>T	stop_gained	ENST00000267163	+	SNV
-input01_69	14	105243048	G	T	14	105243048	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=6394018	snp	+	input01	AKT1	Q79K	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar	chr14:105243048 G>T	missense_variant	ENST00000554581	+	SNV
-input01_71	14	105246551	C	T	14	105246551	.	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=1506234	snp	+	input01	AKT1	E17K	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr14:105246551 C>T	missense_variant	ENST00000554581	+	SNV
-input01_72	16	3788617	C	T	16	3788617	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=7653957	snp	+	input01	CREBBP	R1446H	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar	chr16:3788617 C>T	missense_variant	ENST00000262367	+	SNV
-input01_73	16	3788618	G	A	16	3788618	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2970354	snp	+	input01	CREBBP	R1446C	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr16:3788618 G>A	missense_variant	ENST00000262367	+	SNV
-input01_74	16	3788618	G	C	16	3788618	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2785555	snp	+	input01	CREBBP	R1446G	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar	chr16:3788618 G>C	missense_variant	ENST00000262367	+	SNV
-input01_75	16	69745145	G	A	16	69745145	.	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=7152809	snp	+	input01	NQO1	P187S	non-oncogenic	passenger (oncodriveMUT)		chr16:69745145 G>A	missense_variant	ENST00000320623	+	SNV
-input01_76	16	81946260	C	T	16	81946260	.	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=4985405	snp	+	input01	PLCG2	R665W	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb	chr16:81946260 C>T	missense_variant	ENST00000564138	+	SNV
-input01_77	16	81962183	A	C	16	81962183	.	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=9568332	snp	+	input01	PLCG2	L845F	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar	chr16:81962183 A>C	missense_variant	ENST00000564138	+	SNV
-input01_78	16	81962183	A	T	16	81962183	.	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=2012808	snp	+	input01	PLCG2	L845F	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar	chr16:81962183 A>T	missense_variant	ENST00000564138	+	SNV
-input01_79	17	7577022	G	A	17	7577022	.	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=6850825	snp	+	input01	TP53	R306*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr17:7577022 G>A	stop_gained	ENST00000269305	+	SNV
-input01_80	17	7577081	T	A	17	7577081	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=4829251	snp	+	input01	TP53	E286V	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	clinvar	chr17:7577081 T>A	missense_variant	ENST00000269305	+	SNV
-input01_81	17	7577081	T	C	17	7577081	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=5327814	snp	+	input01	TP53	E286G	oncogenic (predicted)	driver (boostDM: non-tissue-specific model)		chr17:7577081 T>C	missense_variant	ENST00000269305	+	SNV
-input01_82	17	7577081	T	G	17	7577081	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=6431520	snp	+	input01	TP53	E286A	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar	chr17:7577081 T>G	missense_variant	ENST00000269305	+	SNV
-input01_83	17	7577082	C	G	17	7577082	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=9949104	snp	+	input01	TP53	E286Q	oncogenic (predicted)	driver (boostDM: non-tissue-specific model)		chr17:7577082 C>G	missense_variant	ENST00000269305	+	SNV
-input01_84	18	48604787	G	T	18	48604787	.	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=8014594	snp	+	input01	SMAD4	D537Y	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar	chr18:48604787 G>T	missense_variant	ENST00000342988	+	SNV
-input01_85	19	1207021	C	T	19	1207021	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=1501289	snp	+	input01	STK11	Q37*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi	chr19:1207021 C>T	stop_gained	ENST00000326873	+	SNV
-input01_86	20	57484421	G	T	20	57484421	.	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=1074175	snp	+	input01	GNAS	R844L	oncogenic (annotated)	passenger (oncodriveMUT)	cgi	chr20:57484421 G>T	missense_variant	ENST00000371100	+	SNV
-input01_87	20	57484596	A	T	20	57484596	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=8157695	snp	+	input01	GNAS	Q870L	oncogenic (annotated)	passenger (oncodriveMUT)	cgi	chr20:57484596 A>T	missense_variant	ENST00000371100	+	SNV
-input01_88	21	36231783	G	A	21	36231783	.	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=4326712	snp	+	input01	RUNX1	R201*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb	chr21:36231783 G>A	stop_gained	ENST00000300305	+	SNV
-input01_89	22	41565529	G	T	22	41565529	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=6578479	snp	+	input01	EP300	D1399Y	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar	chr22:41565529 G>T	missense_variant	ENST00000263253	+	SNV
-input01_90	X	100611164	C	G	X	100611164	.	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3400584	snp	+	input01	BTK	C515S	non-oncogenic	passenger (oncodriveMUT)		chrX:100611164 C>G	missense_variant	ENST00000621635	+	SNV
+Input ID	CHROMOSOME	POSITION	REF	ALT	#CHROM	POS	ID	QUAL	FILTER	INFO	ALT_TYPE	STRAND	CGI-INFO	CGI-Gene	CGI-Protein Change	CGI-Oncogenic Summary	CGI-Oncogenic Prediction	CGI-External oncogenic annotation	CGI-Mutation	CGI-Consequence	CGI-Transcript	CGI-STRAND	CGI-Type	CGI-HGVS	CGI-HGVSc	CGI-HGVSp
+input01_1	1	11169361	C	G	1	11169361	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4580782	snp	+	input01	MTOR	R2505P	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376127	chr1:11169361 C>G	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.7514G>C;p.(Arg2505Pro);p.(R2505P)	ENST00000361445.9:c.7514G>C	ENSP00000354558.4:p.Arg2505Pro
+input01_2	1	11169375	A	C	1	11169375	.	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3209279	snp	+	input01	MTOR	I2500M	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376455	chr1:11169375 A>C	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.7500T>G;p.(Ile2500Met);p.(I2500M)	ENST00000361445.9:c.7500T>G	ENSP00000354558.4:p.Ile2500Met
+input01_3	1	11169377	T	A	1	11169377	.	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2558221	snp	+	input01	MTOR	I2500F	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar:376456	chr1:11169377 T>A	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.7498A>T;p.(Ile2500Phe);p.(I2500F)	ENST00000361445.9:c.7498A>T	ENSP00000354558.4:p.Ile2500Phe
+input01_4	1	11174420	C	T	1	11174420	.	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8339125	snp	+	input01	MTOR	E2419K	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:156709	chr1:11174420 C>T	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.7255G>A;p.(Glu2419Lys);p.(E2419K)	ENST00000361445.9:c.7255G>A	ENSP00000354558.4:p.Glu2419Lys
+input01_5	1	11182179	G	T	1	11182179	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8043490	snp	+	input01	MTOR	Q2223K	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376128	chr1:11182179 G>T	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.6667C>A;p.(Gln2223Lys);p.(Q2223K)	ENST00000361445.9:c.6667C>A	ENSP00000354558.4:p.Gln2223Lys
+input01_6	1	11184573	G	A	1	11184573	.	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9978383	snp	+	input01	MTOR	S2215F	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar:156703	chr1:11184573 G>A	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.6644C>T;p.(Ser2215Phe);p.(S2215F)	ENST00000361445.9:c.6644C>T	ENSP00000354558.4:p.Ser2215Phe
+input01_7	1	11184573	G	T	1	11184573	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7720974	snp	+	input01	MTOR	S2215Y	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376129	chr1:11184573 G>T	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.6644C>A;p.(Ser2215Tyr);p.(S2215Y)	ENST00000361445.9:c.6644C>A	ENSP00000354558.4:p.Ser2215Tyr
+input01_8	1	11184574	A	T	1	11184574	.	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8254898	snp	+	input01	MTOR	S2215T	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar:376457	chr1:11184574 A>T	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.6643T>A;p.(Ser2215Thr);p.(S2215T)	ENST00000361445.9:c.6643T>A	ENSP00000354558.4:p.Ser2215Thr
+input01_9	1	11184580	G	A	1	11184580	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9718750	snp	+	input01	MTOR	P2213S	oncogenic (predicted)	driver (oncodriveMUT)		chr1:11184580 G>A	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.6637C>T;p.(Pro2213Ser);p.(P2213S)	ENST00000361445.9:c.6637C>T	ENSP00000354558.4:p.Pro2213Ser
+input01_10	1	11187094	G	T	1	11187094	.	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=5554766	snp	+	input01	MTOR	F2108L	oncogenic (predicted)	driver (oncodriveMUT)		chr1:11187094 G>T	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.6324C>A;p.(Phe2108Leu);p.(F2108L)	ENST00000361445.9:c.6324C>A	ENSP00000354558.4:p.Phe2108Leu
+input01_11	1	11187857	C	T	1	11187857	.	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5349064	snp	+	input01	MTOR	E2014K	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376131	chr1:11187857 C>T	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.6040G>A;p.(Glu2014Lys);p.(E2014K)	ENST00000361445.9:c.6040G>A	ENSP00000354558.4:p.Glu2014Lys
+input01_12	1	11188519	G	A	1	11188519	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9546852	snp	+	input01	MTOR	H1968Y	oncogenic (predicted)	driver (oncodriveMUT)		chr1:11188519 G>A	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.5902C>T;p.(His1968Tyr);p.(H1968Y)	ENST00000361445.9:c.5902C>T	ENSP00000354558.4:p.His1968Tyr
+input01_13	1	11217229	G	C	1	11217229	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1777257	snp	+	input01	MTOR	C1483W	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar:376454	chr1:11217229 G>C	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.4449C>G;p.(Cys1483Trp);p.(C1483W)	ENST00000361445.9:c.4449C>G	ENSP00000354558.4:p.Cys1483Trp
+input01_14	1	11217230	C	A	1	11217230	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8667542	snp	+	input01	MTOR	C1483F	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar:190121	chr1:11217230 C>A	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.4448G>T;p.(Cys1483Phe);p.(C1483F)	ENST00000361445.9:c.4448G>T	ENSP00000354558.4:p.Cys1483Phe
+input01_15	1	11217230	C	T	1	11217230	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4564661	snp	+	input01	MTOR	C1483Y	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar:376453	chr1:11217230 C>T	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.4448G>A;p.(Cys1483Tyr);p.(C1483Y)	ENST00000361445.9:c.4448G>A	ENSP00000354558.4:p.Cys1483Tyr
+input01_16	1	11217231	A	G	1	11217231	.	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1009485	snp	+	input01	MTOR	C1483R	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar:374796	chr1:11217231 A>G	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.4447T>C;p.(Cys1483Arg);p.(C1483R)	ENST00000361445.9:c.4447T>C	ENSP00000354558.4:p.Cys1483Arg
+input01_17	1	11217299	A	G	1	11217299	.	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4987929	snp	+	input01	MTOR	L1460P	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376130	chr1:11217299 A>G	missense_variant	ENST00000361445	+	SNV	ENST00000361445:c.4379T>C;p.(Leu1460Pro);p.(L1460P)	ENST00000361445.9:c.4379T>C	ENSP00000354558.4:p.Leu1460Pro
+input01_18	1	11856378	G	A	1	11856378	.	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=1650397	snp	+	input01	MTHFR	A263V	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar:3520	chr1:11856378 G>A	missense_variant	ENST00000376585	+	SNV	ENST00000376585:c.788C>T;p.(Ala263Val);p.(A263V)	ENST00000376585.6:c.788C>T	ENSP00000365770.1:p.Ala263Val
+input01_19	1	16458722	C	T	1	16458722	.	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=5762771	snp	+	input01	EPHA2	R721Q	oncogenic (predicted and annotated)	driver (oncodriveMUT)	clinvar:13262	chr1:16458722 C>T	missense_variant	ENST00000358432	+	SNV	ENST00000358432:c.2162G>A;p.(Arg721Gln);p.(R721Q)	ENST00000358432.8:c.2162G>A	ENSP00000351209.5:p.Arg721Gln
+input01_20	1	16464489	C	G	1	16464489	.	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=2255776	snp	+	input01	EPHA2	G391R	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar:376146	chr1:16464489 C>G	missense_variant	ENST00000358432	+	SNV	ENST00000358432:c.1171G>C;p.(Gly391Arg);p.(G391R)	ENST00000358432.8:c.1171G>C	ENSP00000351209.5:p.Gly391Arg
+input01_21	1	16464489	C	T	1	16464489	.	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=2306693	snp	+	input01	EPHA2	G391R	non-oncogenic	passenger (oncodriveMUT)		chr1:16464489 C>T	missense_variant	ENST00000358432	+	SNV	ENST00000358432:c.1171G>A;p.(Gly391Arg);p.(G391R)	ENST00000358432.8:c.1171G>A	ENSP00000351209.5:p.Gly391Arg
+input01_22	1	23235518	G	A	1	23235518	.	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5480143	snp	+	input01	EPHB2	G786R	oncogenic (predicted and annotated)	driver (oncodriveMUT)	clinvar:376739	chr1:23235518 G>A	missense_variant	ENST00000400191	+	SNV	ENST00000400191:c.2356G>A;p.(Gly786Arg);p.(G786R)	ENST00000400191.7:c.2356G>A	ENSP00000383053.3:p.Gly786Arg
+input01_23	1	36933434	G	A	1	36933434	.	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=2983255	snp	+	input01	CSF3R	T618I	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:208339	chr1:36933434 G>A	missense_variant	ENST00000373103	+	SNV	ENST00000373103:c.1853C>T;p.(Thr618Ile);p.(T618I)	ENST00000373103.5:c.1853C>T	ENSP00000362195.1:p.Thr618Ile
+input01_24	1	36933444	T	C	1	36933444	.	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=8033200	snp	+	input01	CSF3R	T615A	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar:376125	chr1:36933444 T>C	missense_variant	ENST00000373103	+	SNV	ENST00000373103:c.1843A>G;p.(Thr615Ala);p.(T615A)	ENST00000373103.5:c.1843A>G	ENSP00000362195.1:p.Thr615Ala
+input01_25	1	43814978	A	T	1	43814978	.	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=6094160	snp	+	input01	MPL	S505C	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar:376029	chr1:43814978 A>T	missense_variant	ENST00000372470	+	SNV	ENST00000372470:c.1513A>T;p.(Ser505Cys);p.(S505C)	ENST00000372470.9:c.1513A>T	ENSP00000361548.3:p.Ser505Cys
+input01_26	1	43814979	G	A	1	43814979	.	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=1785099	snp	+	input01	MPL	S505N	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:14163	chr1:43814979 G>A	missense_variant	ENST00000372470	+	SNV	ENST00000372470:c.1514G>A;p.(Ser505Asn);p.(S505N)	ENST00000372470.9:c.1514G>A	ENSP00000361548.3:p.Ser505Asn
+input01_27	1	43815009	G	T	1	43815009	.	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=3731083	snp	+	input01	MPL	W515L	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:14164	chr1:43815009 G>T	missense_variant	ENST00000372470	+	SNV	ENST00000372470:c.1544G>T;p.(Trp515Leu);p.(W515L)	ENST00000372470.9:c.1544G>T	ENSP00000361548.3:p.Trp515Leu
+input01_28	1	65312347	C	A	1	65312347	.	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=5887615	snp	+	input01	JAK1	V658F	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376030	chr1:65312347 C>A	missense_variant	ENST00000672434	+	SNV	ENST00000672434:c.1972G>T;p.(Val658Phe);p.(V658F)	ENST00000672434.1:c.1972G>T	ENSP00000499900.1:p.Val658Phe
+input01_29	1	65312382	G	A	1	65312382	.	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=9958612	snp	+	input01	JAK1	S646F	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376099	chr1:65312382 G>A	missense_variant	ENST00000672434	+	SNV	ENST00000672434:c.1937C>T;p.(Ser646Phe);p.(S646F)	ENST00000672434.1:c.1937C>T	ENSP00000499900.1:p.Ser646Phe
+input01_30	1	65312418	G	T	1	65312418	.	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=7084227	snp	+	input01	JAK1	A634D	oncogenic (predicted and annotated)	driver (oncodriveMUT)	cgi,oncokb,clinvar:225075	chr1:65312418 G>T	missense_variant	ENST00000672434	+	SNV	ENST00000672434:c.1901C>A;p.(Ala634Asp);p.(A634D)	ENST00000672434.1:c.1901C>A	ENSP00000499900.1:p.Ala634Asp
+input01_31	1	115256528	T	A	1	115256528	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9141116	snp	+	input01	NRAS	Q61H	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb,clinvar:373003	chr1:115256528 T>A	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.183A>T;p.(Gln61His);p.(Q61H)	ENST00000369535.5:c.183A>T	ENSP00000358548.4:p.Gln61His
+input01_32	1	115256528	T	G	1	115256528	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9191168	snp	+	input01	NRAS	Q61H	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb,clinvar:375871	chr1:115256528 T>G	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.183A>C;p.(Gln61His);p.(Q61H)	ENST00000369535.5:c.183A>C	ENSP00000358548.4:p.Gln61His
+input01_33	1	115256528	TT	CA	1	115256528	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=5335782	mnp	+	input01	NRAS	Q61L	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar:375872	chr1:115256528-115256529 TT>CA	missense_variant	ENST00000369535	+	MNV	ENST00000369535:c.182_183delinsTG;p.(Gln61Leu);p.(Q61L)	ENST00000369535.5:c.182_183delinsTG	ENSP00000358548.4:p.Gln61Leu
+input01_34	1	115256528	TT	CC	1	115256528	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=2316148	mnp	+	input01	NRAS	Q61R	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar:375873	chr1:115256528-115256529 TT>CC	missense_variant	ENST00000369535	+	MNV	ENST00000369535:c.182_183delinsGG;p.(Gln61Arg);p.(Q61R)	ENST00000369535.5:c.182_183delinsGG	ENSP00000358548.4:p.Gln61Arg
+input01_35	1	115256529	T	A	1	115256529	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9121210	snp	+	input01	NRAS	Q61L	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb,clinvar:375874	chr1:115256529 T>A	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.182A>T;p.(Gln61Leu);p.(Q61L)	ENST00000369535.5:c.182A>T	ENSP00000358548.4:p.Gln61Leu
+input01_36	1	115256529	T	C	1	115256529	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4545130	snp	+	input01	NRAS	Q61R	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb,clinvar:13900	chr1:115256529 T>C	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.182A>G;p.(Gln61Arg);p.(Q61R)	ENST00000369535.5:c.182A>G	ENSP00000358548.4:p.Gln61Arg
+input01_37	1	115256529	TG	CT	1	115256529	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=1042289	mnp	+	input01	NRAS	Q61R	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar:376220	chr1:115256529-115256530 TG>CT	missense_variant	ENST00000369535	+	MNV	ENST00000369535:c.181_182delinsAG;p.(Gln61Arg);p.(Q61R)	ENST00000369535.5:c.181_182delinsAG	ENSP00000358548.4:p.Gln61Arg
+input01_38	1	115256529	T	G	1	115256529	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7689375	snp	+	input01	NRAS	Q61P	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:280409	chr1:115256529 T>G	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.182A>C;p.(Gln61Pro);p.(Q61P)	ENST00000369535.5:c.182A>C	ENSP00000358548.4:p.Gln61Pro
+input01_39	1	115256530	G	A	1	115256530	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4309104	snp	+	input01	NRAS	Q61*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:376027	chr1:115256530 G>A	stop_gained	ENST00000369535	+	SNV	ENST00000369535:c.181C>T;p.(Gln61Ter);p.(Q61*)	ENST00000369535.5:c.181C>T	ENSP00000358548.4:p.Gln61Ter
+input01_40	1	115256530	G	C	1	115256530	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8335601	snp	+	input01	NRAS	Q61E	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:375875	chr1:115256530 G>C	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.181C>G;p.(Gln61Glu);p.(Q61E)	ENST00000369535.5:c.181C>G	ENSP00000358548.4:p.Gln61Glu
+input01_41	1	115256530	G	T	1	115256530	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9881851	snp	+	input01	NRAS	Q61K	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:73058	chr1:115256530 G>T	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.181C>A;p.(Gln61Lys);p.(Q61K)	ENST00000369535.5:c.181C>A	ENSP00000358548.4:p.Gln61Lys
+input01_42	1	115258730	C	T	1	115258730	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8212670	snp	+	input01	NRAS	A18T	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar:376028	chr1:115258730 C>T	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.52G>A;p.(Ala18Thr);p.(A18T)	ENST00000369535.5:c.52G>A	ENSP00000358548.4:p.Ala18Thr
+input01_43	1	115258744	C	A	1	115258744	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6399676	snp	+	input01	NRAS	G13V	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:375876	chr1:115258744 C>A	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.38G>T;p.(Gly13Val);p.(G13V)	ENST00000369535.5:c.38G>T	ENSP00000358548.4:p.Gly13Val
+input01_44	1	115258744	C	G	1	115258744	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2637206	snp	+	input01	NRAS	G13A	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:375877	chr1:115258744 C>G	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.38G>C;p.(Gly13Ala);p.(G13A)	ENST00000369535.5:c.38G>C	ENSP00000358548.4:p.Gly13Ala
+input01_45	1	115258744	C	T	1	115258744	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4258223	snp	+	input01	NRAS	G13D	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:13901	chr1:115258744 C>T	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.38G>A;p.(Gly13Asp);p.(G13D)	ENST00000369535.5:c.38G>A	ENSP00000358548.4:p.Gly13Asp
+input01_46	1	115258745	C	A	1	115258745	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6055955	snp	+	input01	NRAS	G13C	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:40471	chr1:115258745 C>A	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.37G>T;p.(Gly13Cys);p.(G13C)	ENST00000369535.5:c.37G>T	ENSP00000358548.4:p.Gly13Cys
+input01_47	1	115258745	C	G	1	115258745	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8033165	snp	+	input01	NRAS	G13R	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:13899	chr1:115258745 C>G	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.37G>C;p.(Gly13Arg);p.(G13R)	ENST00000369535.5:c.37G>C	ENSP00000358548.4:p.Gly13Arg
+input01_48	1	115258745	C	T	1	115258745	.	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9789023	snp	+	input01	NRAS	G13S	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:376221	chr1:115258745 C>T	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.37G>A;p.(Gly13Ser);p.(G13S)	ENST00000369535.5:c.37G>A	ENSP00000358548.4:p.Gly13Ser
+input01_49	1	115258747	C	A	1	115258747	.	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5092183	snp	+	input01	NRAS	G12V	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:40470	chr1:115258747 C>A	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.35G>T;p.(Gly12Val);p.(G12V)	ENST00000369535.5:c.35G>T	ENSP00000358548.4:p.Gly12Val
+input01_50	1	115258747	C	G	1	115258747	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9037188	snp	+	input01	NRAS	G12A	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:219097	chr1:115258747 C>G	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.35G>C;p.(Gly12Ala);p.(G12A)	ENST00000369535.5:c.35G>C	ENSP00000358548.4:p.Gly12Ala
+input01_51	1	115258747	C	T	1	115258747	.	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9664066	snp	+	input01	NRAS	G12D	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:39648	chr1:115258747 C>T	missense_variant	ENST00000369535	+	SNV	ENST00000369535:c.35G>A;p.(Gly12Asp);p.(G12D)	ENST00000369535.5:c.35G>A	ENSP00000358548.4:p.Gly12Asp
+input01_52	7	55221821	GC	AA	7	55221821	.	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=3955283	mnp	+	input01	EGFR	A289N	oncogenic (predicted and annotated)	driver (oncodriveMUT)	clinvar:376397	chr7:55221821-55221822 GC>AA	missense_variant	ENST00000275493	+	MNV	ENST00000275493:c.865_866delinsAA;p.(Ala289Asn);p.(A289N)	ENST00000275493.7:c.865_866delinsAA	ENSP00000275493.2:p.Ala289Asn
+input01_53	7	55221822	C	A	7	55221822	.	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2574659	snp	+	input01	EGFR	A289D	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	oncokb,clinvar:376396	chr7:55221822 C>A	missense_variant	ENST00000275493	+	SNV	ENST00000275493:c.866C>A;p.(Ala289Asp);p.(A289D)	ENST00000275493.7:c.866C>A	ENSP00000275493.2:p.Ala289Asp
+input01_54	9	80409488	T	C	9	80409488	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2553161	snp	+	input01	GNAQ	Q209R	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:375956	chr9:80409488 T>C	missense_variant	ENST00000286548	+	SNV	ENST00000286548:c.626A>G;p.(Gln209Arg);p.(Q209R)	ENST00000286548.9:c.626A>G	ENSP00000286548.4:p.Gln209Arg
+input01_55	9	80409488	TG	AA	9	80409488	.	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=6761480	mnp	+	input01	GNAQ	Q209L	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar:376311	chr9:80409488-80409489 TG>AA	missense_variant	ENST00000286548	+	MNV	ENST00000286548:c.625_626delinsTT;p.(Gln209Leu);p.(Q209L)	ENST00000286548.9:c.625_626delinsTT	ENSP00000286548.4:p.Gln209Leu
+input01_56	10	43609078	TTCCCTGAGGAGGAGAAGTGCTTCTGC	-	10	43609077	.	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=8917004	indel	+	input01	RET	FPEEEKCFC612-620-	non-oncogenic	passenger (oncodriveMUT)		chr10:43609078-43609078 TTCCCTGAGGAGGAGAAGTGCTTCTGC>-	inframe_deletion	ENST00000355710	+	DEL	ENST00000355710:c.1834_1860del;p.(Phe612_Cys620del);p.(F612_C620del)	ENST00000355710.8:c.1834_1860del	ENSP00000347942.3:p.Phe612_Cys620del
+input01_57	11	534289	C	T	11	534289	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=4929727	snp	+	input01	HRAS	G12S	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:12602	chr11:534289 C>T	missense_variant	ENST00000451590	+	SNV	ENST00000451590:c.34G>A;p.(Gly12Ser);p.(G12S)	ENST00000451590.5:c.34G>A	ENSP00000407586.1:p.Gly12Ser
+input01_58	11	8457665	A	C	11	8457665	.	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=5529836	snp	+	input01	STK33	F323L	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar:376702	chr11:8457665 A>C	missense_variant	ENST00000447869	+	SNV	ENST00000447869:c.969T>G;p.(Phe323Leu);p.(F323L)	ENST00000447869.5:c.969T>G	ENSP00000416750.1:p.Phe323Leu
+input01_59	11	32417908	-	ACCGTACA	11	32417908	.	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=2042601	indel	+	input01	WT1	-386-387CTX	non-oncogenic	passenger (oncodriveMUT)		chr11:32417908-32417909 ->ACCGTACA	frameshift_variant	ENST00000452863	+	INS	ENST00000452863:c.1158_1159insTGTACGGT;p.(Ala387CysfsTer70);p.(A387Cfs*70)	ENST00000452863.10:c.1158_1159insTGTACGGT	ENSP00000415516.5:p.Ala387CysfsTer70
+input01_60	11	65830499	A	C	11	65830499	.	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1606211	snp	+	input01	SF3B2	H666P	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar:376531	chr11:65830499 A>C	missense_variant	ENST00000322535	+	SNV	ENST00000322535:c.1997A>C;p.(His666Pro);p.(H666P)	ENST00000322535.11:c.1997A>C	ENSP00000318861.6:p.His666Pro
+input01_61	11	65830884	A	G	11	65830884	.	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=5806386	snp	+	input01	SF3B2	E700G	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar:376533	chr11:65830884 A>G	missense_variant	ENST00000322535	+	SNV	ENST00000322535:c.2099A>G;p.(Glu700Gly);p.(E700G)	ENST00000322535.11:c.2099A>G	ENSP00000318861.6:p.Glu700Gly
+input01_62	11	67352689	A	G	11	67352689	.	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=2296976	snp	+	input01	GSTP1	I105V	non-oncogenic	passenger (oncodriveMUT)		chr11:67352689 A>G	missense_variant	ENST00000398606	+	SNV	ENST00000398606:c.313A>G;p.(Ile105Val);p.(I105V)	ENST00000398606.10:c.313A>G	ENSP00000381607.3:p.Ile105Val
+input01_63	11	108218044	A	C	11	108218044	.	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=1204346	snp	+	input01	ATM	N2875H	oncogenic (predicted)	driver (boostDM: non-tissue-specific model)		chr11:108218044 A>C	missense_variant	ENST00000278616	+	SNV	ENST00000278616:c.8623A>C;p.(Asn2875His);p.(N2875H)	ENST00000278616.8:c.8623A>C	ENSP00000278616.4:p.Asn2875His
+input01_64	13	48955550	C	T	13	48955550	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3144661	snp	+	input01	RB1	R556*	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	cgi,clinvar:13090	chr13:48955550 C>T	stop_gained	ENST00000267163	+	SNV	ENST00000267163:c.1666C>T;p.(Arg556Ter);p.(R556*)	ENST00000267163.6:c.1666C>T	ENSP00000267163.4:p.Arg556Ter
+input01_65	13	49027168	C	T	13	49027168	.	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=2600460	snp	+	input01	RB1	R579*	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	cgi,clinvar:126785	chr13:49027168 C>T	stop_gained	ENST00000267163	+	SNV	ENST00000267163:c.1735C>T;p.(Arg579Ter);p.(R579*)	ENST00000267163.6:c.1735C>T	ENSP00000267163.4:p.Arg579Ter
+input01_66	13	49037877	G	T	13	49037877	.	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=6055776	snp	+	input01	RB1	C706F	oncogenic (annotated)	passenger (boostDM)	cgi,oncokb,clinvar:376330	chr13:49037877 G>T	missense_variant	ENST00000267163	+	SNV	ENST00000267163:c.2117G>T;p.(Cys706Phe);p.(C706F)	ENST00000267163.6:c.2117G>T	ENSP00000267163.4:p.Cys706Phe
+input01_67	13	49039164	G	T	13	49039164	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8931114	snp	+	input01	RB1	E748*	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	cgi,clinvar:13078	chr13:49039164 G>T	stop_gained	ENST00000267163	+	SNV	ENST00000267163:c.2242G>T;p.(Glu748Ter);p.(E748*)	ENST00000267163.6:c.2242G>T	ENSP00000267163.4:p.Glu748Ter
+input01_69	14	105243048	G	T	14	105243048	.	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=2111546	snp	+	input01	AKT1	Q79K	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	cgi,oncokb,clinvar:376168	chr14:105243048 G>T	missense_variant	ENST00000554581	+	SNV	ENST00000554581:c.235C>A;p.(Gln79Lys);p.(Q79K)	ENST00000554581.5:c.235C>A	ENSP00000451828.1:p.Gln79Lys
+input01_71	14	105246551	C	T	14	105246551	.	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=5808481	snp	+	input01	AKT1	E17K	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	cgi,oncokb,clinvar:13983	chr14:105246551 C>T	missense_variant	ENST00000554581	+	SNV	ENST00000554581:c.49G>A;p.(Glu17Lys);p.(E17K)	ENST00000554581.5:c.49G>A	ENSP00000451828.1:p.Glu17Lys
+input01_72	16	3788617	C	T	16	3788617	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=4837294	snp	+	input01	CREBBP	R1446H	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:376387	chr16:3788617 C>T	missense_variant	ENST00000262367	+	SNV	ENST00000262367:c.4337G>A;p.(Arg1446His);p.(R1446H)	ENST00000262367.10:c.4337G>A	ENSP00000262367.5:p.Arg1446His
+input01_73	16	3788618	G	A	16	3788618	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=8568900	snp	+	input01	CREBBP	R1446C	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:95047	chr16:3788618 G>A	missense_variant	ENST00000262367	+	SNV	ENST00000262367:c.4336C>T;p.(Arg1446Cys);p.(R1446C)	ENST00000262367.10:c.4336C>T	ENSP00000262367.5:p.Arg1446Cys
+input01_74	16	3788618	G	C	16	3788618	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=6432609	snp	+	input01	CREBBP	R1446G	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:376388	chr16:3788618 G>C	missense_variant	ENST00000262367	+	SNV	ENST00000262367:c.4336C>G;p.(Arg1446Gly);p.(R1446G)	ENST00000262367.10:c.4336C>G	ENSP00000262367.5:p.Arg1446Gly
+input01_75	16	69745145	G	A	16	69745145	.	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=4545480	snp	+	input01	NQO1	P187S	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar:16809	chr16:69745145 G>A	missense_variant	ENST00000320623	+	SNV	ENST00000320623:c.559C>T;p.(Pro187Ser);p.(P187S)	ENST00000320623.10:c.559C>T	ENSP00000319788.5:p.Pro187Ser
+input01_76	16	81946260	C	T	16	81946260	.	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=9606588	snp	+	input01	PLCG2	R665W	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,oncokb,clinvar:376213	chr16:81946260 C>T	missense_variant	ENST00000564138	+	SNV	ENST00000564138:c.1993C>T;p.(Arg665Trp);p.(R665W)	ENST00000564138.6:c.1993C>T	ENSP00000482457.1:p.Arg665Trp
+input01_77	16	81962183	A	C	16	81962183	.	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=1348808	snp	+	input01	PLCG2	L845F	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar:376214	chr16:81962183 A>C	missense_variant	ENST00000564138	+	SNV	ENST00000564138:c.2535A>C;p.(Leu845Phe);p.(L845F)	ENST00000564138.6:c.2535A>C	ENSP00000482457.1:p.Leu845Phe
+input01_78	16	81962183	A	T	16	81962183	.	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=2029848	snp	+	input01	PLCG2	L845F	oncogenic (annotated)	passenger (oncodriveMUT)	oncokb,clinvar:376215	chr16:81962183 A>T	missense_variant	ENST00000564138	+	SNV	ENST00000564138:c.2535A>T;p.(Leu845Phe);p.(L845F)	ENST00000564138.6:c.2535A>T	ENSP00000482457.1:p.Leu845Phe
+input01_79	17	7577022	G	A	17	7577022	.	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=3686245	snp	+	input01	TP53	R306*	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	cgi,clinvar:142144	chr17:7577022 G>A	stop_gained	ENST00000269305	+	SNV	ENST00000269305:c.916C>T;p.(Arg306Ter);p.(R306*)	ENST00000269305.9:c.916C>T	ENSP00000269305.4:p.Arg306Ter
+input01_80	17	7577081	T	A	17	7577081	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=7061584	snp	+	input01	TP53	E286V	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	clinvar:376592	chr17:7577081 T>A	missense_variant	ENST00000269305	+	SNV	ENST00000269305:c.857A>T;p.(Glu286Val);p.(E286V)	ENST00000269305.9:c.857A>T	ENSP00000269305.4:p.Glu286Val
+input01_81	17	7577081	T	C	17	7577081	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=2523161	snp	+	input01	TP53	E286G	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	clinvar:376590	chr17:7577081 T>C	missense_variant	ENST00000269305	+	SNV	ENST00000269305:c.857A>G;p.(Glu286Gly);p.(E286G)	ENST00000269305.9:c.857A>G	ENSP00000269305.4:p.Glu286Gly
+input01_82	17	7577081	T	G	17	7577081	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=1383811	snp	+	input01	TP53	E286A	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	cgi,clinvar:376593	chr17:7577081 T>G	missense_variant	ENST00000269305	+	SNV	ENST00000269305:c.857A>C;p.(Glu286Ala);p.(E286A)	ENST00000269305.9:c.857A>C	ENSP00000269305.4:p.Glu286Ala
+input01_83	17	7577082	C	G	17	7577082	.	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8675058	snp	+	input01	TP53	E286Q	oncogenic (predicted and annotated)	driver (boostDM: tissue specific model)	clinvar:376591	chr17:7577082 C>G	missense_variant	ENST00000269305	+	SNV	ENST00000269305:c.856G>C;p.(Glu286Gln);p.(E286Q)	ENST00000269305.9:c.856G>C	ENSP00000269305.4:p.Glu286Gln
+input01_84	18	48604787	G	T	18	48604787	.	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=2054827	snp	+	input01	SMAD4	D537Y	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:376000	chr18:48604787 G>T	missense_variant	ENST00000342988	+	SNV	ENST00000342988:c.1609G>T;p.(Asp537Tyr);p.(D537Y)	ENST00000342988.8:c.1609G>T	ENSP00000341551.3:p.Asp537Tyr
+input01_85	19	1207021	C	T	19	1207021	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=5001857	snp	+	input01	STK11	Q37*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,clinvar:376334	chr19:1207021 C>T	stop_gained	ENST00000326873	+	SNV	ENST00000326873:c.109C>T;p.(Gln37Ter);p.(Q37*)	ENST00000326873.12:c.109C>T	ENSP00000324856.6:p.Gln37Ter
+input01_86	20	57484421	G	T	20	57484421	.	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=1226805	snp	+	input01	GNAS	R844L	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar:210045	chr20:57484421 G>T	missense_variant	ENST00000371100	+	SNV	ENST00000371100:c.2531G>T;p.(Arg844Leu);p.(R844L)	ENST00000371100.8:c.2531G>T	ENSP00000360141.3:p.Arg844Leu
+input01_87	20	57484596	A	T	20	57484596	.	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=7040058	snp	+	input01	GNAS	Q870L	oncogenic (annotated)	passenger (oncodriveMUT)	cgi,clinvar:210047	chr20:57484596 A>T	missense_variant	ENST00000371100	+	SNV	ENST00000371100:c.2609A>T;p.(Gln870Leu);p.(Q870L)	ENST00000371100.8:c.2609A>T	ENSP00000360141.3:p.Gln870Leu
+input01_88	21	36231783	G	A	21	36231783	.	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=4689546	snp	+	input01	RUNX1	R201*	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:376018	chr21:36231783 G>A	stop_gained	ENST00000300305	+	SNV	ENST00000300305:c.601C>T;p.(Arg201Ter);p.(R201*)	ENST00000300305.7:c.601C>T	ENSP00000300305.3:p.Arg201Ter
+input01_89	22	41565529	G	T	22	41565529	.	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=5138149	snp	+	input01	EP300	D1399Y	oncogenic (predicted and annotated)	driver (boostDM: non-tissue-specific model)	cgi,oncokb,clinvar:376402	chr22:41565529 G>T	missense_variant	ENST00000263253	+	SNV	ENST00000263253:c.4195G>T;p.(Asp1399Tyr);p.(D1399Y)	ENST00000263253.9:c.4195G>T	ENSP00000263253.7:p.Asp1399Tyr
+input01_90	X	100611164	C	G	X	100611164	.	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5761324	snp	+	input01	BTK	C515S	oncogenic (annotated)	passenger (oncodriveMUT)	clinvar:376203	chrX:100611164 C>G	missense_variant	ENST00000621635	+	SNV	ENST00000621635:c.1544G>C;p.(Cys515Ser);p.(C515S)	ENST00000621635.4:c.1544G>C	ENSP00000483570.1:p.Cys515Ser
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results/biomarkers.tsv b/example_files/cgi_test_out/cgi_test_out.cgi_results/biomarkers.tsv
index 7ea6e28..51ed46c 100644
--- a/example_files/cgi_test_out/cgi_test_out.cgi_results/biomarkers.tsv
+++ b/example_files/cgi_test_out/cgi_test_out.cgi_results/biomarkers.tsv
@@ -1,26 +1,57 @@
 Sample ID	Alterations	Biomarker	Drugs	Diseases	Response	Evidence	Match	Source	BioM	Resist.	Tumor type
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Pralsetinib (Tyrosine kinase inhibitor)	Thyroid medullary	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-ret-altered-thyroid-cancers;ASCO 2020 (abstr 109)	only gene		THM
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Selpercatinib (RET kinase inhibitor)	Thyroid medullary	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions;ASCO 2020 (abstr 3594)	only gene		THM
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Cabozantinib (Kinase inhibitor )	Non-small cell lung	Responsive	C	NO	PMID:27825636	only gene		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (S786I,G719., L861Q)	Osimertinib (EGFR inhibitor 3d gen)	Non-small cell lung	Responsive	A	NO	NCCN Non-Small Cell Lung Cancer guidlines 2022	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,S768I,L861Q,G719.)	Dacomitinib (EGFR inhibitor)	Non-small cell lung	Responsive	A	NO	NCCN Non-Small Cell Lung Cancer guidlines 2022;FDA:https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-dacomitinib-metastatic-non-small-cell-lung-cancer-0	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Gefitinib (EGFR inhibitor 1st gen)	Non-small cell lung	Resistant	A	NO	PMID:26980062	only alteration type		NSCLC
-input01	ATM (N2875H)	ATM oncogenic mutation	Olaparib (PARP inhibitor)	Prostate adenocarcinoma	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	complete		PRAD
-input01	KRAS wildtype	KRAS wildtype	Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Responsive	A	NO	PMID: 31268481	complete	621.0	COREAD
-input01	KRAS wildtype	KRAS wildtype	Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Responsive	A	NO	PMID: 19339720	complete	246.0	COREAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 insertions	Mobocertinib (EGFR inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-mobocertinib-metastatic-non-small-cell-lung-cancer-egfr-exon-20	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 insertions	Amivantamab (EGFR mAb inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-amivantamab-vmjw-metastatic-non-small-cell-lung-cancer	only alteration type		NSCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Pralsetinib (Tyrosine kinase inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-lung-cancer-ret-gene-fusions	only gene		NSCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Selpercatinib (RET kinase inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions	only gene		NSCLC
+input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS (12,13,59,61,117,146)	Cetuximab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	A	NO	PMID:24024839;PMID:20619739;PMID:23325582	complete		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 inframe deletions	Afatinib(ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/201292s017lbl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Afatinib(ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/201292s017lbl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L861Q,G719,S768I)	Afatinib(ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/201292s017lbl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 inframe deletions	Erlotinib(EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Erlotinib(EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L861Q,G719,S768I)	Erlotinib(EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 inframe deletions	Gefitinib(EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/206995s004lbl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Gefitinib(EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/206995s004lbl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L861Q,G719,S768I)	Gefitinib(EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Osimertinib(EGFR inhibitor 3rd gen)	Non-small cell lung	Responsive	A	NO	FDA  https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/208065s021lbl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Osimertinib(EGFR inhibitor 3rd gen)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/208065s021lbl.pdf	only alteration type		NSCLC
+input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS (12,13,59,61,117,146)	Panitumumab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	A	NO	FDA guidelines	complete		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Afatinib(ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Resistant	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Erlotinib(EGFR inhibitor 1st gen)	Non-small cell lung	Resistant	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET (618,620,634,768,791,891,918,C634W,M918T)	Vandetanib(Pan-TK inhibitor)	Thyroid carcinoma	Responsive	A	NO	PMID:20065189;PMID:22025146	only alteration type		THCA
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Pralsetinib(Tyrosine kinase inhibitor)	Thyroid	Responsive	A	NO	FDA https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-ret-altered-thyroid-cancers;ASCO 2020 (abstr 109)	only gene		TH
+input01	RET MUT* (FPEEEKCFC612-620-)	RET oncogenic mutation	Selpercatinib(RET kinase inhibitor)	Thyroid medullary	Responsive	A	NO	FDA https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions;ASCO 2020 (abstr 3594)	only alteration type		THM
+input01	EGFR (A289N), EGFR (A289D)	EGFR (S786I,G719, L861Q)	Osimertinib(EGFR inhibitor 3rd gen)	Non-small cell lung	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Dacomitinib(EGFR inhibitor)	Non-small cell lung	Responsive	A	NO	NCCN Non-Small Cell Lung Cancer guidlines 2022;FDA:https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-dacomitinib-metastatic-non-small-cell-lung-cancer-0	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Gefitinib(EGFR inhibitor 1st gen)	Non-small cell lung	Resistant	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	ATM (N2875H)	ATM oncogenic mutation	Olaparib(PARP inhibitor)	Prostate adenocarcinoma	Responsive	A	NO	FDA https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-olaparib-hrr-gene-mutated-metastatic-castration-resistant-prostate-cancer;PMID:32343890	complete		PRAD
+input01	KRAS wildtype	KRAS wildtype	Panitumumab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Responsive	A	NO	FDA  https://www.accessdata.fda.gov/drugsatfda_docs/label/2021/125147s210lbl.pdf	complete	65.0	COREAD
+input01	KRAS wildtype	KRAS wildtype	Cetuximab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Responsive	A	NO	PMID: 19339720	complete	22.0	COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 inframe insertions	Mobocertinib(EGFR inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-mobocertinib-metastatic-non-small-cell-lung-cancer-egfr-exon-20	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 inframe insertions	Amivantamab(EGFR mAb inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-amivantamab-vmjw-metastatic-non-small-cell-lung-cancer	only alteration type		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Pralsetinib(Tyrosine kinase inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-pralsetinib-lung-cancer-ret-gene-fusions	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Selpercatinib(RET kinase inhibitor)	Non-small cell lung	Responsive	A	NO	FDA:https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-locally-advanced-or-metastatic-ret-fusion-positive-non-small-cell-lung	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Selpercatinib(RET kinase inhibitor)	Thyroid	Responsive	A	NO	FDA https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-lung-and-thyroid-cancers-ret-gene-mutations-or-fusions;ASCO 2020 (abstr 3594)	only gene		TH
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Selpercatinib(RET kinase inhibitor)	Solid tumors	Responsive	A	YES	FDA  https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-selpercatinib-locally-advanced-or-metastatic-ret-fusion-positive-solid-tumors	only gene		SOLID
+input01	ATM (N2875H)	ATM oncogenic mutation	Talazoparib(PARP inhibitor);Enzalutamide(AR inhibitor)	Prostate adenocarcinoma	Responsive	A	NO	FDA https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-talazoparib-enzalutamide-hrr-gene-mutated-metastatic-castration-resistant-prostate	complete		PRAD
+input01	BTK (C515S)	BTK (C481S)	Ibrutinib(BTK inhibitor)	Chronic lymphocytic leukemia	Resistant	A	NO	PMID: 28418267	only alteration type		CLL
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Trametinib(MEK inhibitor)	Erdheim-Chester histiocytosis	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/histiocytic_neoplasms.pdf	complete		HISEC
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Cobimetinib(MEK inhibitor)	Erdheim-Chester histiocytosis	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/histiocytic_neoplasms.pdf	complete		HISEC
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Trametinib(MEK inhibitor)	Langerhans cell histiocytosis	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/histiocytic_neoplasms.pdf	complete		HISLC
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Cobimetinib(MEK inhibitor)	Langerhans cell histiocytosis	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/histiocytic_neoplasms.pdf	complete		HISLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 inframe deletions	Erlotinib(EGFR inhibitor 1st gen);Ramucirumab(VEGFR2 antagonist)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/125477s042lbl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Erlotinib(EGFR inhibitor 1st gen);Ramucirumab(VEGFR2 antagonist)	Non-small cell lung	Responsive	A	NO	FDA https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/125477s042lbl.pdf	only alteration type		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Cabozantinib(Kinase inhibitor )	Non-small cell lung	Responsive	A	NO	NCCN  https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only gene		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 inframe insertions	Afatinib(ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Resistant	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 inframe insertions	Gefitinib(EGFR inhibitor 1st gen)	Non-small cell lung	Resistant	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 inframe insertions	Erlotinib(EGFR inhibitor 1st gen)	Non-small cell lung	Resistant	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (S768I,L861Q,G719)	Dacomitinib(EGFR inhibitor)	Non-small cell lung	Responsive	A	NO	NCCN https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 inframe deletions	Dacomitinib(EGFR inhibitor)	Non-small cell lung	Responsive	A	NO	FDA: https://www.fda.gov/drugs/drug-approvals-and-databases/fda-approves-dacomitinib-metastatic-non-small-cell-lung-cancer-0	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 inframe deletions	Osimertinib(EGFR inhibitor 3rd gen)	Non-small cell lung	Responsive	A	NO	FDA  https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/208065s021lbl.pdf	only alteration type		NSCLC
 input01	AKT1 (Q79K), AKT1 (E17K)	AKT1 (Q79K,E17K)	BRAF inhibitors	Cutaneous melanoma	Resistant	C	NO	PMID:24265152	complete		CM
 input01	AKT1 (E17K)	AKT1 (E17K)	AKT inhibitors	Any cancer type	Responsive	D	YES	PMID:21464312;PMID:17611497;PMID:23134728; ENA 2015 (abstr B109)	complete		CANCER
 input01	AKT1 (E17K)	AKT1 (E17K)	allosteric AKT inhibitors	Any cancer type	Responsive	C	YES	ENA 2015 (abstract B109);PMID:28489509	complete		CANCER
 input01	AKT1 (E17K)	AKT1 (E17K)	non-allosteric AKT inhibitors	Any cancer type	Responsive	C	YES	ENA 2015 (abstract B109);PMID:28489509	complete		CANCER
 input01	AKT1 (E17K)	AKT1 (E17K)	PI3K pathway inhibitors	Head an neck squamous	Responsive	C	NO	PMID:26763254	complete		HNSC
-input01	AKT1 (Q79K), AKT1 (E17K)	AKT1 (H238Y)	Everolimus (MTOR inhibitor)	Fibrous histiocytoma	Responsive	C	NO	ASCO 2015 (abstr 11010)	only alteration type		FH
-input01	AKT1 (E17K)	AKT1 (E17K)	Tensirolimus (MTOR inhibitor)	Endometrium	Responsive	C	NO	PMID:27016228	complete		ED
+input01	AKT1 (Q79K), AKT1 (E17K)	AKT1 (H238Y)	Everolimus(MTOR inhibitor)	Fibrous histiocytoma	Responsive	C	NO	ASCO 2015 (abstr 11010)	only alteration type		FH
+input01	AKT1 (E17K)	AKT1 (E17K)	Tensirolimus(MTOR inhibitor)	Endometrium	Responsive	C	NO	PMID:27016228	complete		ED
 input01	EGFR (A289N), EGFR (A289D)	EGFR inframe deletion (30-336)	EGFR inhibitor 1st gens	Glioma	No Responsive	C	NO	PMID:19204207	only alteration type		G
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 insertions	EGFR inhibitor 1st gens	Lung	Resistant	B	NO	PMID:21764376;PMID:26773740;PMID:26051236	only alteration type		L
 input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	EGFR inhibitor 1st gens	Glioma	No Responsive	C	NO	PMID:16282176;PMID:16278407	only gene		G
 input01	EGFR (A289N), EGFR (A289D)	EGFR (D761Y)	EGFR inhibitor 1st gens	Non-small cell lung	Resistant	C	NO	PMID:19680293	only alteration type		NSCLC
 input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	EGFR inhibitor 1st gens	Non-small cell lung	Resistant	B	NO	PMID:19680293	only alteration type		NSCLC
@@ -35,15 +66,14 @@ input01	ATM (N2875H)	ATM oncogenic mutation	DNA-PKc inhibitors	Lymphoma	Responsi
 input01	ATM (N2875H)	ATM deletion	DNA-PKc inhibitors	Lymphoma	Responsive	D	NO	PMID:23761041	only gene		LY
 input01	ATM (N2875H)	ATM oncogenic mutation	PARP inhibitors	Stomach	Responsive	C	NO	ENA 2014 (abstr 8LBA)	complete		ST
 input01	ATM (N2875H)	ATM deletion	PARP inhibitors	Stomach	Responsive	C	NO	ENA 2014 (abstr 8LBA)	only gene		ST
-input01	ATM (N2875H)	ATM biallelic inactivation	AZD6738 (ATR inhibitor)	B cell lymphoma	Responsive	C	NO	NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	only alteration type		BCL
-input01	ATM (N2875H)	ATM oncogenic mutation	Cisplatin (Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	complete		BLCA
-input01	ATM (N2875H)	ATM deletion	Cisplatin (Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	only gene		BLCA
-input01	ATM (N2875H)	ATM oncogenic mutation	Olaparib (PARP inhibitor)	Stomach	Responsive	C	NO	ENA 2014 (abstr 8LBA)	complete		ST
-input01	ATM (N2875H)	ATM oncogenic mutation	Temozolomide (Chemotherapy)	Glioma	Responsive	D	NO	PMID:23960094	complete		G
+input01	ATM (N2875H)	ATM biallelic inactivation	AZD6738(ATR inhibitor)	B cell lymphoma	Responsive	C	NO	NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	only alteration type		BCL
+input01	ATM (N2875H)	ATM oncogenic mutation	Cisplatin(Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	complete		BLCA
+input01	ATM (N2875H)	ATM deletion	Cisplatin(Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	only gene		BLCA
+input01	ATM (N2875H)	ATM oncogenic mutation	Olaparib(PARP inhibitor)	Stomach	Responsive	C	NO	ENA 2014 (abstr 8LBA)	complete		ST
+input01	ATM (N2875H)	ATM oncogenic mutation	Temozolomide(Chemotherapy)	Glioma	Responsive	D	NO	PMID:23960094	complete		G
 input01	JAK1 (V658F), JAK1 (S646F), JAK1 (A634D)	JAK1 oncogenic mutation	PD1 inhibitors	Colorectal adenocarcinoma	Resistant	C	NO	PMID:27903500	complete		COREAD
 input01	JAK1 (V658F), JAK1 (S646F), JAK1 (A634D)	JAK1 oncogenic mutation	PD1 inhibitors	Cutaneous melanoma	Resistant	C	NO	PMID:27433843	complete		CM
-input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS (12,13,59,61,117,146)	Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	A	NO	PMID:24024839;PMID:20619739;PMID:23325582	complete		COREAD
-input01	CSF3R (T618I), CSF3R (T615A)	CSF3R frameshift variant (D771),frameshift variant (S783)	Dasatinib (BCR-ABL inhibitor 2nd gen)	Atypical chronic myeloid leukemia	Responsive	D	NO	PMID:23656643	only alteration type		ACML
+input01	CSF3R (T618I), CSF3R (T615A)	CSF3R frameshift variant (D771),frameshift variant (S783)	Dasatinib(BCR-ABL inhibitor 2nd gen)	Atypical chronic myeloid leukemia	Responsive	D	NO	PMID:23656643	only alteration type		ACML
 input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	EGFR inhibitor 3rd gens	Lung	Responsive	C	NO	ASCO 2014 (abstr 8009);ENA 2014 (abstr 10LBA);ENA 2014 (abstr 9LBA);ASCO 2015 (abstr 8001)	only alteration type		L
 input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	EGFR inhibitors	Head an neck squamous	Responsive	C	NO	PMID:26763254	only gene		HNSC
 input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	EGFR mAb inhibitors	Colorectal adenocarcinoma	Responsive	B	NO	PMID:18794099;PMID:17664472	only gene		COREAD
@@ -53,94 +83,77 @@ input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	HSP90 inhibitors	Lung
 input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 insertions	HSP90 inhibitors	Lung	Responsive	C	NO	ASCO 2014 (abstr 8015)	only alteration type		L
 input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)	HSP90 inhibitors	Lung	Responsive	C	NO	ESMO 2012 (abstr 4380)	only alteration type		L
 input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	HSP90 inhibitors	Lung	Responsive	C	NO	ESMO 2012 (abstr 4380)	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	MEK inhibitor (alone or in combination)s	Lung	Responsive	D	NO	PMID:23102728	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M)	MEK inhibitor (alone or in combination)s	Lung	Responsive	D	NO	PMID:23102728	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	MEK inhibitor(alone or in combination)s	Lung	Responsive	D	NO	PMID:23102728	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M)	MEK inhibitor(alone or in combination)s	Lung	Responsive	D	NO	PMID:23102728	only alteration type		L
 input01	EGFR (A289N), EGFR (A289D)	EGFR (S492R)	novel EGFR mAb inhibitors	Colorectal adenocarcinoma	Responsive	C	NO	PMID:25962717	only alteration type		COREAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	EGFR inhibitor 3rd gens (Rociletinib,HM61713,etc)	Non-small cell lung	Responsive	B	NO	NCT02322281	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 deletions	Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Lung	Responsive	B	NO	PMID:22753918;PMID:25589191	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	ESMO 2012 (abstr 1289)	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)	Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	ESMO 2012 (abstr 1289)	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	PMID:25074459	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Afatinib + Nimotuzumab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	PMID:26667485	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR overexpression	Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Responsive	A	NO	FDA	only gene	246.0	COREAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR (P546S)	Cetuximab (EGFR mAb inhibitor)	Head an neck	Responsive	C	NO	PMID:23578570	only alteration type		HNC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (P753S)	Cetuximab + Sirolimus (EGFR mAb inhibitor + MTOR inhibitor)	Head an neck	Responsive	C	NO	PMID:24934779	only alteration type		HNC
-input01	EGFR (A289N), EGFR (A289D)	EGFR-RAD51 fusion	Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	C	NO	PMID:27102076	only gene		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR-RAD51 fusion	Erlotinib (EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:27102076	only gene		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 deletions	Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	Erlotinib (EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:22190593	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR inframe insertion (769-770)	Erlotinib (EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:26773740;PMID:23328547	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (A289V,R108K,G598V,T263P)	Erlotinib (EGFR inhibitor 1st gen)	Glioma	Responsive	D	NO	PMID:17177598	only alteration type		G
+input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	EGFR inhibitor 3rd gens(Rociletinib,HM61713,etc)	Non-small cell lung	Responsive	B	NO	NCT02322281	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	Afatinib(ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Lung	Responsive	B	NO	PMID:22753918;PMID:25589191	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	Afatinib + Cetuximab(ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	ESMO 2012 (abstr 1289)	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R)	Afatinib + Cetuximab(ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	ESMO 2012 (abstr 1289)	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Afatinib + Cetuximab(ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	PMID:25074459	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Afatinib + Nimotuzumab(ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor)	Lung	Responsive	C	NO	PMID:26667485	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (P546S)	Cetuximab(EGFR mAb inhibitor)	Head an neck	Responsive	C	NO	PMID:23578570	only alteration type		HNC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (P753S)	Cetuximab + Sirolimus(EGFR mAb inhibitor + MTOR inhibitor)	Head an neck	Responsive	C	NO	PMID:24934779	only alteration type		HNC
+input01	EGFR (A289N), EGFR (A289D)	EGFR-RAD51 fusion	Erlotinib(EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	C	NO	PMID:27102076	only gene		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR-RAD51 fusion	Erlotinib(EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:27102076	only gene		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 insertions	Erlotinib(EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:22190593	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR inframe insertion (769-770)	Erlotinib(EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:26773740;PMID:23328547	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (A289V,R108K,G598V,T263P)	Erlotinib(EGFR inhibitor 1st gen)	Glioma	Responsive	D	NO	PMID:17177598	only alteration type		G
 input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K)	NRAS (Q61)	BRAF inhibitors	Cutaneous melanoma	Resistant	C	NO	PMID:23569304;PMID:24265153	complete		CM
-input01	EGFR (A289N), EGFR (A289D)	EGFR (K757R,E746G)	Erlotinib (EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:26773740	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861,G719,S768I)	Erlotinib (EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	NCCN	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 deletions	Gefitinib (EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	Gefitinib (EGFR inhibitor 1st gen)	Endometrium	Responsive	B	NO	PMID:24950987	only gene		ED
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	Gefitinib (EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R)	Gefitinib (EGFR inhibitor 1st gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (E690K)	Lapatinib (ERBB2 inhibitor)	Endometrium	Responsive	C	NO	PMID:22885469	only alteration type		ED
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 deletions	Osimertinib (EGFR inhibitor 3rd gen)	Lung	Responsive	C	NO	NCT02465060	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR exon 20 insertions	Osimertinib (EGFR inhibitor 3rd gen)	Lung	Responsive	A	NO	PMID:26515464	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L858R)	Osimertinib (EGFR inhibitor 3rd gen)	Non-small cell lung	Responsive	A	NO	NCCN Non-Small Cell Lung Cancer 2022;PMID:30659024	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Osimertinib (EGFR inhibitor 3rd gen)	Non-small cell lung	Responsive	A	NO	FDA	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (S492R)	Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Responsive	C	NO	PMID:22270724	only alteration type	621.0	COREAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR inframe deletion (6-273)	Rindopepimut (Vaccine)	Glioblastoma	Responsive	B	NO	NCT01480479	only alteration type		GB
+input01	EGFR (A289N), EGFR (A289D)	EGFR (K757R,E746G)	Erlotinib(EGFR inhibitor 1st gen)	Lung	Responsive	C	NO	PMID:26773740	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	Gefitinib(EGFR inhibitor 1st gen)	Endometrium	Responsive	B	NO	PMID:24950987	only gene		ED
+input01	EGFR (A289N), EGFR (A289D)	EGFR (E690K)	Lapatinib(ERBB2 inhibitor)	Endometrium	Responsive	C	NO	PMID:22885469	only alteration type		ED
+input01	EGFR (A289N), EGFR (A289D)	EGFR exon 19 deletions	Osimertinib(EGFR inhibitor 3rd gen)	Lung	Responsive	C	NO	NCT02465060	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (S492R)	Panitumumab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Responsive	C	NO	PMID:22270724	only alteration type	65.0	COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR inframe deletion (6-273)	Rindopepimut(Vaccine)	Glioblastoma	Responsive	B	NO	NCT01480479	only alteration type		GB
 input01	EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 (G391R)	MTOR inhibitors	Lung squamous cell	Responsive	D	NO	PMID:20360610	complete		LUSC
 input01	EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 (G391R)	MTOR inhibitors	Lung squamous cell	Responsive	D	NO	PMID:20360610	complete		LUSC
-input01	EPHA2 (R721Q), EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 amplification	Dasatinib (BCR-ABL inhibitor 2nd gen)	Any cancer type	Responsive	D	YES	PMID:18047674;PMID:19010823;PMID:19861960	only gene		CANCER
-input01	EPHA2 (R721Q), EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 amplification	Dasatinib (BCR-ABL inhibitor 2nd gen)	Any cancer type	Responsive	D	YES	PMID:18047674;PMID:19010823;PMID:19861960	only gene		CANCER
-input01	EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 (G391R)	Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung squamous cell	Responsive	D	NO	PMID:20360610	complete		LUSC
-input01	EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 (G391R)	Dasatinib (BCR-ABL inhibitor 2nd gen)	Lung squamous cell	Responsive	D	NO	PMID:20360610	complete		LUSC
+input01	EPHA2 (R721Q), EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 amplification	Dasatinib(BCR-ABL inhibitor 2nd gen)	Any cancer type	Responsive	D	YES	PMID:18047674;PMID:19010823;PMID:19861960	only gene		CANCER
+input01	EPHA2 (R721Q), EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 amplification	Dasatinib(BCR-ABL inhibitor 2nd gen)	Any cancer type	Responsive	D	YES	PMID:18047674;PMID:19010823;PMID:19861960	only gene		CANCER
+input01	EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 (G391R)	Dasatinib(BCR-ABL inhibitor 2nd gen)	Lung squamous cell	Responsive	D	NO	PMID:20360610	complete		LUSC
+input01	EPHA2 (G391R), EPHA2 MUT* (G391R)	EPHA2 (G391R)	Dasatinib(BCR-ABL inhibitor 2nd gen)	Lung squamous cell	Responsive	D	NO	PMID:20360610	complete		LUSC
 input01	STK11 (Q37*)	STK11 oncogenic mutation	BET inhibitors	Lung	Resistant	D	NO	PMID:23129625;PMID:24045185	complete		L
 input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	MDM2 inhibitors	Liposarcoma	Resistant	C	NO	PMID:23084521;ASCO 2015 (abstr 10564)	complete		LIP
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Abemaciclib (CDK4/CDK6 inhibitor)	Breast adenocarcinoma	Resistant	C	YES	PMID:27217383	complete		BRCA
-input01	EGFR (A289N), EGFR (A289D)	EGFR overexpression	Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	A	NO	FDA guidelines	only gene		COREAD
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Abemaciclib(CDK4/CDK6 inhibitor)	Breast adenocarcinoma	Resistant	C	YES	PMID:27217383	complete		BRCA
 input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ (Q209)	HDAC inhibitors	Cutaneous melanoma	Responsive	D	NO	NCT01587352	complete		CM
 input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ (Q209)	PI3K pathway inhibitor + MEK inhibitors	Cutaneous melanoma	Responsive	D	NO	PMID:22733540;PMID:22808163	complete		CM
 input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ (Q209)	PKC inhibitors	Cutaneous melanoma	Responsive	D	NO	PMID:22653968;PMID:22253748	complete		CM
-input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ (Q209)	Selumetinib (MEK inhibitor)	Cutaneous melanoma	Responsive	C	NO	ASCO 2013 (abstr CRA9003)	complete		CM
+input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ (Q209)	Selumetinib(MEK inhibitor)	Cutaneous melanoma	Responsive	C	NO	ASCO 2013 (abstr CRA9003)	complete		CM
 input01	GNAS (R844L), GNAS (Q870L)	GNAS (R201)	JAK inhibitors	Any cancer type	Responsive	D	YES	PMID:21835143	only alteration type		CANCER
 input01	HRAS (G12S)	HRAS oncogenic mutation	MEK inhibitor +/- MTOR inhibitors	Acute myeloid leukemia	Responsive	D	NO	PMID:22399013;PMID:22507781	complete		AML
 input01	HRAS (G12S)	HRAS oncogenic mutation	MTOR inhibitors	Cervix squamous cell	Responsive	D	NO	PMID:22345164	complete		CESC
 input01	HRAS (G12S)	HRAS oncogenic mutation	PI3K pathway inhibitor + MEK inhibitors	Cervix	Responsive	D	NO	PMID:15950068	complete		CER
-input01	HRAS (G12S)	HRAS oncogenic mutation	Tipifarnib (Farnesyltransferase inhibitor)	Any cancer type	Responsive	C	YES	NCT02383927	complete		CANCER
-input01	HRAS (G12S)	HRAS oncogenic mutation	Tipifarnib (Farnesyltransferase inhibitor)	Any cancer type	Responsive	C	YES	NCT02383927	complete		CANCER
-input01	EGFR (A289N), EGFR (A289D)	EGFR (S464L,G465R,I491M)	Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	D	NO	PMID:25623215	only alteration type		COREAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR (S492R,G465R,R451C,K467T)	Cetuximab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	C	NO	PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827	only alteration type		COREAD
-input01	JAK1 (S646F)	JAK1 (S646F;R683)	Ruxolitinib (JAK inhibitor)	Acute lymphoblastic leukemia	Responsive	D	NO	PMID:22955920;PMID:18805579	complete		ALL
-input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS (12,13,59,61,117,146)	Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	A	NO	FDA guidelines	complete		COREAD
-input01	KIT wildtype	KIT wildtype	Dasatinib (BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal	Responsive	D	NO	PMID:16397263	complete		GIST
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Cisplatin (Chemotherapy)	Female germ cell tumor, Male germ cell tumor	Resistant	C	NO	PMID:27646943	complete		FGCT, MGCT
-input01	KIT wildtype	KIT wildtype	Sorafenib (Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	C	NO	ASCO 2011 (abstr 10009)	complete		GIST
-input01	KIT wildtype	KIT wildtype	Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	B	NO	PMID:18955458	complete		GIST
-input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	Erlotinib (EGFR inhibitor 1st gen)	Lung	No Responsive	C	NO	ASCO2015(abstre19028)	only gene		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (S720)	Erlotinib (EGFR inhibitor 1st gen)	Lung	No Responsive	C	NO	PMID:26773740	only alteration type		L
-input01	MTOR (F2108L)	MTOR (F2108L)	Everolimus (MTOR inhibitor)	Thyroid carcinoma	Resistant	C	NO	PMID:25295501	complete		THCA
-input01	EGFR (A289N), EGFR (A289D)	EGFR inframe deletion (L747),inframe insertion (P753PS)	Gefitinib (EGFR inhibitor 1st gen)	Head an neck	No Responsive	C	NO	PMID:21274259	only alteration type		HNC
-input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	Gefitinib (EGFR inhibitor 1st gen)	Head an neck	No Responsive	C	NO	PMID:21274259;PMID:22261807	only gene		HNC
-input01	EGFR (A289N), EGFR (A289D)	EGFR (V843I)	Gefitinib (EGFR inhibitor 1st gen)	Head an neck	No Responsive	C	NO	PMID:21274259	only alteration type		HNC
-input01	BTK MUT* (C515S)	BTK (C481)	Ibrutinib (BTK inhibitor)	Mantle cell lymphoma	Resistant	C	NO	PMID:25082755	only alteration type		MCL
-input01	BTK MUT* (C515S)	BTK (C481S)	Ibrutinib (BTK inhibitor)	Chronic lymphocytic leukemia	Resistant	C	NO	PMID:24869598;PMID:27199251	only alteration type		CLL
-input01	PLCG2 (R665W), PLCG2 (L845F), PLCG2 (L845F)	PLCG2 (R665W,L845F)	Ibrutinib (BTK inhibitor)	Chronic lymphocytic leukemia	Resistant	C	NO	PMID:24869598	complete		CLL
-input01	KIT wildtype	KIT wildtype	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal	Resistant	B	NO	PMID:18955458	complete		GIST
+input01	HRAS (G12S)	HRAS oncogenic mutation	Tipifarnib(Farnesyltransferase inhibitor)	Any cancer type	Responsive	C	YES	NCT02383927	complete		CANCER
+input01	HRAS (G12S)	HRAS oncogenic mutation	Tipifarnib(Farnesyltransferase inhibitor)	Any cancer type	Responsive	C	YES	NCT02383927	complete		CANCER
+input01	EGFR (A289N), EGFR (A289D)	EGFR (S464L,G465R,I491M)	Cetuximab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	D	NO	PMID:25623215	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR (S492R,G465R,R451C,K467T)	Cetuximab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	C	NO	PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827	only alteration type		COREAD
+input01	JAK1 (S646F)	JAK1 (S646F;R683)	Ruxolitinib(JAK inhibitor)	Acute lymphoblastic leukemia	Responsive	D	NO	PMID:22955920;PMID:18805579	complete		ALL
+input01	KIT wildtype	KIT wildtype	Dasatinib(BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal	Responsive	D	NO	PMID:16397263	complete		GIST
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Cisplatin(Chemotherapy)	Female germ cell tumor, Male germ cell tumor	Resistant	C	NO	PMID:27646943	complete		FGCT, MGCT
+input01	KIT wildtype	KIT wildtype	Sorafenib(Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	C	NO	ASCO 2011 (abstr 10009)	complete		GIST
+input01	KIT wildtype	KIT wildtype	Sunitinib(Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	B	NO	PMID:18955458	complete		GIST
+input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	Erlotinib(EGFR inhibitor 1st gen)	Lung	No Responsive	C	NO	ASCO2015(abstre19028)	only gene		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (S720)	Erlotinib(EGFR inhibitor 1st gen)	Lung	No Responsive	C	NO	PMID:26773740	only alteration type		L
+input01	MTOR (F2108L)	MTOR (F2108L)	Everolimus(MTOR inhibitor)	Thyroid carcinoma	Resistant	C	NO	PMID:25295501	complete		THCA
+input01	EGFR (A289N), EGFR (A289D)	EGFR inframe deletion (L747),inframe insertion (P753PS)	Gefitinib(EGFR inhibitor 1st gen)	Head an neck	No Responsive	C	NO	PMID:21274259	only alteration type		HNC
+input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	Gefitinib(EGFR inhibitor 1st gen)	Head an neck	No Responsive	C	NO	PMID:21274259;PMID:22261807	only gene		HNC
+input01	EGFR (A289N), EGFR (A289D)	EGFR (V843I)	Gefitinib(EGFR inhibitor 1st gen)	Head an neck	No Responsive	C	NO	PMID:21274259	only alteration type		HNC
+input01	BTK (C515S)	BTK (C481)	Ibrutinib(BTK inhibitor)	Mantle cell lymphoma	Resistant	C	NO	PMID:25082755	only alteration type		MCL
+input01	PLCG2 (R665W), PLCG2 (L845F), PLCG2 (L845F)	PLCG2 (R665W,L845F)	Ibrutinib(BTK inhibitor)	Chronic lymphocytic leukemia	Resistant	C	NO	PMID:24869598	complete		CLL
+input01	KIT wildtype	KIT wildtype	Imatinib(BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal	Resistant	B	NO	PMID:18955458	complete		GIST
 input01	MPL (S505C), MPL (S505N), MPL (W515L)	MPL (W515F)	JAK inhibitors	Myelodisplasic proliferative syndrome	Responsive	D	NO	PMID:16834459	only alteration type		MDPS
 input01	MTOR (F2108L)	MTOR (F2108L)	MTOR kinase inhibitors	Any cancer type	Responsive	D	YES	PMID:25295501	complete		CANCER
-input01	MTOR (E2419K), MTOR (E2014K)	MTOR (E2014K,E2419K,N1421D)	Everolimus (MTOR inhibitor)	Bladder	Responsive	C	NO	PMID:24625776	complete		BLCA
-input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR (I1973F)	Everolimus (MTOR inhibitor)	Angiosarcoma, Renal	Responsive	C	NO	ASCO 2015 (abstr 11010);PMID:26859683	only alteration type		AS, R
-input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR (K1771R)	Everolimus (MTOR inhibitor)	Stomach, Adrenal gland	Responsive	C	NO	ASCO 2015 (abstr 11010);PMID:26859683	only alteration type		ST, AG
-input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR (N1421D)	Everolimus (MTOR inhibitor)	Stomach	Responsive	C	NO	PMID:26859683	only alteration type		ST
-input01	MTOR (Q2223K)	MTOR (Q2223K)	Everolimus (MTOR inhibitor)	Renal	Responsive	C	NO	PMID:24622468	complete		R
-input01	MTOR (R2505P), MTOR (S2215Y), MTOR (L1460P)	MTOR (L1460P,S2215Y,R2505P)	Sirolimus (MTOR inhibitor)	Any cancer type	Responsive	D	YES	PMID:24631838	complete		CANCER
-input01	PDGFRA wildtype	PDGFRA wildtype	Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal	Resistant	B	NO	PMID:14645423;PMID:18955458	complete		GIST
-input01	EGFR (A289N), EGFR (A289D)	EGFR (C797S)	Osimertinib (EGFR inhibitor 3rd gen)	Lung	Resistant	C	NO	PMID:25939061	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L718)	Osimertinib (EGFR inhibitor 3rd gen)	Lung	Resistant	C	NO	ASCO 2017 (abstr 2572)	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L792)	Osimertinib (EGFR inhibitor 3rd gen)	Lung	Resistant	C	NO	ASCO 2017 (abstr 2572)	only alteration type		L
-input01	EGFR (A289N), EGFR (A289D)	EGFR (G465R)	Panitumumab (EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	C	NO	PMID:26059438	only alteration type		COREAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen)	Lung	Resistant	A	NO	NCCN	only alteration type		L
+input01	MTOR (E2419K), MTOR (E2014K)	MTOR (E2014K,E2419K,N1421D)	Everolimus(MTOR inhibitor)	Bladder	Responsive	C	NO	PMID:24625776	complete		BLCA
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR (I1973F)	Everolimus(MTOR inhibitor)	Angiosarcoma, Renal	Responsive	C	NO	ASCO 2015 (abstr 11010);PMID:26859683	only alteration type		AS, R
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR (K1771R)	Everolimus(MTOR inhibitor)	Stomach, Adrenal gland	Responsive	C	NO	ASCO 2015 (abstr 11010);PMID:26859683	only alteration type		ST, AG
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR (N1421D)	Everolimus(MTOR inhibitor)	Stomach	Responsive	C	NO	PMID:26859683	only alteration type		ST
+input01	MTOR (Q2223K)	MTOR (Q2223K)	Everolimus(MTOR inhibitor)	Renal	Responsive	C	NO	PMID:24622468	complete		R
+input01	MTOR (R2505P), MTOR (S2215Y), MTOR (L1460P)	MTOR (L1460P,S2215Y,R2505P)	Sirolimus(MTOR inhibitor)	Any cancer type	Responsive	D	YES	PMID:24631838	complete	805.0	CANCER
+input01	PDGFRA wildtype	PDGFRA wildtype	Imatinib(BCR-ABL inhibitor 1st gen&KIT inhibitor)	Gastrointestinal stromal	Resistant	B	NO	PMID:14645423;PMID:18955458	complete		GIST
+input01	EGFR (A289N), EGFR (A289D)	EGFR (C797S)	Osimertinib(EGFR inhibitor 3rd gen)	Lung	Resistant	C	NO	PMID:25939061	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L718)	Osimertinib(EGFR inhibitor 3rd gen)	Lung	Resistant	C	NO	ASCO 2017 (abstr 2572)	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L792)	Osimertinib(EGFR inhibitor 3rd gen)	Lung	Resistant	C	NO	ASCO 2017 (abstr 2572)	only alteration type		L
+input01	EGFR (A289N), EGFR (A289D)	EGFR (G465R)	Panitumumab(EGFR mAb inhibitor)	Colorectal adenocarcinoma	Resistant	C	NO	PMID:26059438	only alteration type		COREAD
 input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	CDK4/6 inhibitor + MEK inhibitors	Cutaneous melanoma	Responsive	C	NO	PMID:26658964;NCT01781572;NCT02065063;NCT02022982;ASCO 2014 (abstr 9009)	complete		CM
 input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS (G12C)	ERK inhibitors	Any cancer type	Responsive	D	YES	PMID:23614898	only alteration type		CANCER
 input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	ERK inhibitors	Cutaneous melanoma	Responsive	C	NO	ASCO 2017 (abstr 2508)	complete		CM
@@ -150,55 +163,52 @@ input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q
 input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K)	NRAS (Q61)	MEK inhibitors	Cutaneous melanoma	Responsive	B	NO	PMID:23414587,ASCO 2016 (abstr 9500)	complete		CM
 input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Pan-RAF inhibitors	Cutaneous melanoma	Responsive	C	NO	ESMO 2015 (abstract 300);AACR 2017 (abstr CT002)	complete		CM
 input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	PI3K pathway inhibitor + MEK inhibitors	Myeloma	Responsive	D	NO	PMID:22985491	complete		MYMA
-input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Sorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor)	Hepatic carcinoma	Responsive	C	NO	PMID:25294897	complete		HC
-input01	PDGFRA wildtype	PDGFRA wildtype	Dasatinib (BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal	Responsive	D	NO	PMID:16397263	complete		GIST
-input01	RET MUT* (FPEEEKCFC612-620-)	RET (I788N)	Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Lung adenocarcinoma	Resistant	D	NO	PMID:28615362	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Erlotinib (EGFR inhibitor 1st gen)	Lung	Resistant	A	NO	NCCN	only alteration type		L
-input01	PDGFRA wildtype	PDGFRA wildtype	Sorafenib (Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	C	NO	ASCO 2011 (abstr 10009)	complete		GIST
-input01	PDGFRA wildtype	PDGFRA wildtype	Sunitinib (Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	B	NO	PMID:18955458	complete		GIST
-input01	EGFR (A289N), EGFR (A289D)	EGFR (L798I)	Rociletinib (EGFR inhibitor)	Lung adenocarcinoma	Resistant	C	NO	PMID:27283993	only alteration type		LUAD
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Sorafenib + MEK inhibitor(Pan-TK inhibitor + MEK inhibitor)	Hepatic carcinoma	Responsive	C	NO	PMID:25294897	complete		HC
+input01	PDGFRA wildtype	PDGFRA wildtype	Dasatinib(BCR-ABL inhibitor 2nd gen)	Gastrointestinal stromal	Responsive	D	NO	PMID:16397263	complete		GIST
+input01	RET MUT* (FPEEEKCFC612-620-)	RET (I788N)	Ponatinib(BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor)	Lung adenocarcinoma	Resistant	D	NO	PMID:28615362	only alteration type		LUAD
+input01	PDGFRA wildtype	PDGFRA wildtype	Sorafenib(Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	C	NO	ASCO 2011 (abstr 10009)	complete		GIST
+input01	PDGFRA wildtype	PDGFRA wildtype	Sunitinib(Pan-TK inhibitor)	Gastrointestinal stromal	Responsive	B	NO	PMID:18955458	complete		GIST
+input01	EGFR (A289N), EGFR (A289D)	EGFR (L798I)	Rociletinib(EGFR inhibitor)	Lung adenocarcinoma	Resistant	C	NO	PMID:27283993	only alteration type		LUAD
 input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 oncogenic mutation	HDAC inhibitors	Retinoblastoma	Responsive	D	NO	PMID:18483379	complete		RB
 input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 deletion	HDAC inhibitors	Retinoblastoma	Responsive	D	NO	PMID:18483379	only gene		RB
 input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 oncogenic mutation	MDM2/MDMX inhibitors	Retinoblastoma	Responsive	D	NO	PMID:17080083;PMID:21515735	complete		RB
 input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 deletion	MDM2/MDMX inhibitors	Retinoblastoma	Responsive	D	NO	PMID:17080083;PMID:21515735	only gene		RB
-input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 oncogenic mutation	Cisplatin (Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	complete		BLCA
-input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 deletion	Cisplatin (Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	only gene		BLCA
-input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 overexpression	Palbociclib (CDK4/6 inhibitor)	Prostate adenocarcinoma	Responsive	D	NO	PMID:23708653	only gene		PRAD
+input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 oncogenic mutation	Cisplatin(Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	complete		BLCA
+input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 deletion	Cisplatin(Chemotherapy)	Bladder	Responsive	C	NO	PMID:26238431	only gene		BLCA
 input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	RET inhibitors	Lung adenocarcinoma	Responsive	D	NO	PMID:22327624;PMID:22327622	only gene		LUAD
 input01	RET MUT* (FPEEEKCFC612-620-)	RET-TPCN1 fusion	RET inhibitors	Thyroid	Responsive	D	NO	PMID:23056499	only gene		TH
 input01	RET MUT* (FPEEEKCFC612-620-)	RET (C634W,M918T)	RET inhibitors	Thyroid	Responsive	D	NO	PMID:23056499	only alteration type		TH
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Cabozantinib (Pan-kinase inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:28447912	only gene		LUAD
-input01	RET MUT* (FPEEEKCFC612-620-)	RET-TPCN1 fusion	Cabozantinib (Pan-kinase inhibitor)	Thyroid carcinoma	Responsive	D	NO	PMID:21470995	only gene		THCA
-input01	RET MUT* (FPEEEKCFC612-620-)	RET (C634W,M918T)	Cabozantinib (Pan-kinase inhibitor)	Thyroid	Responsive	D	NO	PMID:21470995	only alteration type		TH
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Nintedanib (Pan-TK inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:26787234	only gene		LUAD
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Sunitinib (Pan-TK inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:28447912	only gene		LUAD
-input01	RET MUT* (FPEEEKCFC612-620-)	RET-TPCN1 fusion	Sunitinib (Pan-TK inhibitor)	Thyroid carcinoma	Responsive	D	NO	PMID:21470995	only gene		THCA
-input01	RET MUT* (FPEEEKCFC612-620-)	RET (C634W,M918T)	Sunitinib (Pan-TK inhibitor)	Thyroid	Responsive	D	NO	PMID:21470995	only alteration type		TH
-input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Vandetanib (Pan-TK inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:28447912	only gene		LUAD
-input01	RET MUT* (FPEEEKCFC612-620-)	RET-TPCN1 fusion	Vandetanib (Pan-TK inhibitor)	Thyroid carcinoma	Responsive	D	NO	PMID:21470995	only gene		THCA
-input01	RET MUT* (FPEEEKCFC612-620-)	RET (618,620,634,768,791,891,918,C634W,M918T)	Vandetanib (Pan-TK inhibitor)	Thyroid carcinoma	Responsive	A	NO	PMID:20065189;PMID:22025146	only alteration type		THCA
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Cabozantinib(Pan-kinase inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:28447912	only gene		LUAD
+input01	RET MUT* (FPEEEKCFC612-620-)	RET-TPCN1 fusion	Cabozantinib(Pan-kinase inhibitor)	Thyroid carcinoma	Responsive	D	NO	PMID:21470995	only gene		THCA
+input01	RET MUT* (FPEEEKCFC612-620-)	RET (C634W,M918T)	Cabozantinib(Pan-kinase inhibitor)	Thyroid	Responsive	D	NO	PMID:21470995	only alteration type		TH
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Nintedanib(Pan-TK inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:26787234	only gene		LUAD
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Sunitinib(Pan-TK inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:28447912	only gene		LUAD
+input01	RET MUT* (FPEEEKCFC612-620-)	RET-TPCN1 fusion	Sunitinib(Pan-TK inhibitor)	Thyroid carcinoma	Responsive	D	NO	PMID:21470995	only gene		THCA
+input01	RET MUT* (FPEEEKCFC612-620-)	RET (C634W,M918T)	Sunitinib(Pan-TK inhibitor)	Thyroid	Responsive	D	NO	PMID:21470995	only alteration type		TH
+input01	RET MUT* (FPEEEKCFC612-620-)	RET fusion	Vandetanib(Pan-TK inhibitor)	Lung adenocarcinoma	Responsive	C	NO	PMID:28447912	only gene		LUAD
+input01	RET MUT* (FPEEEKCFC612-620-)	RET-TPCN1 fusion	Vandetanib(Pan-TK inhibitor)	Thyroid carcinoma	Responsive	D	NO	PMID:21470995	only gene		THCA
 input01	STK11 (Q37*)	STK11 oncogenic mutation	MEK inhibitors	Lung adenocarcinoma	Responsive	D	NO	PMID:19165201	complete		LUAD
 input01	STK11 (Q37*)	STK11 deletion	MEK inhibitors	Lung adenocarcinoma	Responsive	D	NO	PMID:19165201	only gene		LUAD
 input01	STK11 (Q37*)	STK11 oncogenic mutation	MTOR inhibitors	Any cancer type	Responsive	D	YES	PMID:19541609	complete		CANCER
 input01	STK11 (Q37*)	STK11 deletion	MTOR inhibitors	Any cancer type	Responsive	D	YES	PMID:19541609	only gene		CANCER
 input01	STK11 (Q37*)	STK11 oncogenic mutation	SRC inhibitor + PI3K/MEK inhibitors	Lung adenocarcinoma	Responsive	D	NO	PMID:20541700	complete		LUAD
 input01	STK11 (Q37*)	STK11 deletion	SRC inhibitor + PI3K/MEK inhibitors	Lung adenocarcinoma	Responsive	D	NO	PMID:20541700	only gene		LUAD
-input01	STK11 (Q37*)	STK11 (D194E)	Everolimus (MTOR inhibitor)	Pancreas	Responsive	C	NO	PMID:21189378	only alteration type		PA
-input01	STK11 (Q37*)	STK11 oncogenic mutation	Phenformin (Anti-diabetic)	Lung adenocarcinoma	Responsive	D	NO	PMID:23352126	complete		LUAD
-input01	STK11 (Q37*)	STK11 deletion	Phenformin (Anti-diabetic)	Lung adenocarcinoma	Responsive	D	NO	PMID:23352126	only gene		LUAD
+input01	STK11 (Q37*)	STK11 (D194E)	Everolimus(MTOR inhibitor)	Pancreas	Responsive	C	NO	PMID:21189378	only alteration type		PA
+input01	STK11 (Q37*)	STK11 oncogenic mutation	Phenformin(Anti-diabetic)	Lung adenocarcinoma	Responsive	D	NO	PMID:23352126	complete		LUAD
+input01	STK11 (Q37*)	STK11 deletion	Phenformin(Anti-diabetic)	Lung adenocarcinoma	Responsive	D	NO	PMID:23352126	only gene		LUAD
 input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 (R248Q,R175H)	HSP90 inhibitors	Any cancer type	Responsive	D	YES	PMID:26009011	only alteration type		CANCER
 input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 (R248Q,R175H)	HSP90 inhibitors	Any cancer type	Responsive	D	YES	PMID:26009011	only alteration type		CANCER
 input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	WEE1 inhibitors	Head an neck	Responsive	D	NO	PMID:25125259	complete		HNC
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	AZD6738 (ATR inhibitor)	B cell lymphoma	Responsive	C	NO	NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	complete		BCL
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 deletion	AZD6738 (ATR inhibitor)	B cell lymphoma	Responsive	C	NO	NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	only gene		BCL
-input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Vemurafenib (BRAF inhibitor)	Cutaneous melanoma	Resistant	D	NO	PMID:20179705	complete		CM
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Decitabine (Chemotherapy)	Acute myeloid leukemia, Myelodisplasic proliferative syndrome	Responsive	C	NO	PMID:27959731	complete		AML, MDPS
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Doxorubicin (Anthracycline antitumor antibiotic)	Bladder	Responsive	D	NO	PMID:27397505	complete		BLCA
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Gemcitabine (Chemotherapy)	Bladder	Responsive	D	NO	PMID:27397505	complete		BLCA
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Mitomycin C (Chemotherapy)	Bladder	Responsive	D	NO	PMID:27397505	complete		BLCA
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	AZD6738(ATR inhibitor)	B cell lymphoma	Responsive	C	NO	NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	complete		BCL
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 deletion	AZD6738(ATR inhibitor)	B cell lymphoma	Responsive	C	NO	NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html	only gene		BCL
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS oncogenic mutation	Vemurafenib(BRAF inhibitor)	Cutaneous melanoma	Resistant	D	NO	PMID:20179705	complete		CM
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Decitabine(Chemotherapy)	Acute myeloid leukemia, Myelodisplasic proliferative syndrome	Responsive	C	NO	PMID:27959731	complete		AML, MDPS
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Doxorubicin(Anthracycline antitumor antibiotic)	Bladder	Responsive	D	NO	PMID:27397505	complete		BLCA
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Gemcitabine(Chemotherapy)	Bladder	Responsive	D	NO	PMID:27397505	complete		BLCA
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Mitomycin C(Chemotherapy)	Bladder	Responsive	D	NO	PMID:27397505	complete		BLCA
 input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	WEE1 inhibitors	Ovary	Responsive	C	NO	PMID:27998224	complete		OV
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Pramlintide (Amylin analogue)	Thymic	Responsive	D	NO	PMID:25409149	complete		THYM
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 deletion	Pramlintide (Amylin analogue)	Thymic	Responsive	D	NO	PMID:25409149	only gene		THYM
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 oncogenic mutation	Pramlintide(Amylin analogue)	Thymic	Responsive	D	NO	PMID:25409149	complete		THYM
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 deletion	Pramlintide(Amylin analogue)	Thymic	Responsive	D	NO	PMID:25409149	only gene		THYM
 input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M)	Afatinib + Erlotinib + Gefitinib	Non-small cell lung	Resistant	A	NO	oncokb: oncokb=https://www.oncokb.org/gene/EGFR	only alteration type		NSCLC
 input01	EGFR (A289N), EGFR (A289D)	EGFR (T790M,D761Y)	Gefitinib	Non-small cell lung	Resistant	B	NO	CIVIC,oncokb: CIVIC=https://civicdb.org/genes/19/summary|oncokb=https://www.oncokb.org/gene/EGFR	only alteration type		NSCLC
 input01	MTOR (L1460P)	MTOR (L2209V,L1460P,L2427Q)	Temsirolimus	Renal clear cell	Responsive	C	NO	oncokb: oncokb=https://www.oncokb.org/gene/MTOR	complete		RCCC
@@ -224,163 +234,242 @@ input01	RET MUT* (FPEEEKCFC612-620-)	RET-KIF5B fusion	Larotrectinib + 292 + 667
 input01	RET MUT* (FPEEEKCFC612-620-)	RET-CCDC6 fusion	Larotrectinib + 292 + 667	Thyroid medullary	Responsive	C	NO	oncokb: oncokb=https://www.oncokb.org/gene/RET	only gene		THM
 input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS (Q61K,T50I,G13D,G60E,G12C,G12V,T58I,.,Q61H,G12R,G12D,Q61L,G13V,Q61R)	Selumetinib	Thyroid carcinoma	Responsive	C	NO	oncokb: oncokb=https://www.oncokb.org/gene/NRAS	complete		THCA
 input01	EGFR (A289N), EGFR (A289D)	EGFR amplification	Lapatinib	Glioma	Responsive	D	NO	oncokb: oncokb=https://www.oncokb.org/gene/EGFR	only gene		G
-input01	AKT1 (E17K)	AKT1 E17K	Vemurafenib	Cutaneous melanoma	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/4	complete		CM
-input01	AKT1 (E17K)	AKT1 E17K	Uprosertib	Cutaneous melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/4	complete		CM
-input01	AKT1 (Q79K)	AKT1 Q79K	Vemurafenib	Cutaneous melanoma	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/169	complete		CM
-input01	AKT1 (Q79K)	AKT1 Q79K	Dabrafenib	Cutaneous melanoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/169	complete		CM
-input01	ATM (N2875H)	ATM Mutation	Temozolomide	Cutaneous melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/178	complete		CM
-input01	BRAF wildtype	BRAF WILD TYPE	MEK Inhibitor RO4987655	Cutaneous melanoma	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/422	complete		CM
-input01	EGFR (A289N), EGFR (A289D)	EGFR A763_Y764insFQEA	Erlotinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/1423	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR A763_Y764insFQEA	Osimertinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1423	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR A767_V769dupASV	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/1487	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR A767_V769dupASV	Osimertinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1487	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR A864T	Erlotinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/1161	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR C797S	Osimertinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/411	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR C797S	Osimertinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/411	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR D761Y	Erlotinib,Gefitinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/693	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insG	Osimertinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1420	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insGL	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/1422	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insGT	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/1474	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insNPG	Afatinib,Gefitinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/1477	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR D770delinsGY	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/2090	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR E746G	Erlotinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/705	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR E746_A750del	Gefitinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/976	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR E746_A750del	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/976	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR EGFR::RAD51	Erlotinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/2079	only gene		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR EGFR::RAD51	Icotinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/2079	only gene		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR EGFR::RAD51	Osimertinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/2079	only gene		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719	Erlotinib	Lung adenocarcinoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/699	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719	Gefitinib,Erlotinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/699	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719A	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/973	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719A	Gefitinib,Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/973	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719D	Gefitinib,Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1328	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719S	Gefitinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/134	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719S	Gefitinib,Erlotinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/134	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR G719S	Erlotinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/134	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR H773_V774insNPH	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/1421	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR K757R	Erlotinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/704	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR K806E	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1771	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR KIF5B::EGFR	Afatinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/4169	only gene		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L747P	Gefitinib,Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1767	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L747_P753delinsS	Erlotinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/986	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L747_P753delinsS	Erlotinib	Pancreas adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/986	only alteration type		PAAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L747_S752delinsQ	Erlotinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/1488	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L838P	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1365	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Lung adenocarcinoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Lung adenocarcinoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Lung adenocarcinoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Lung adenocarcinoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Cetuximab	Lung adenocarcinoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Crizotinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib,Erlotinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Lapatinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Dacomitinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Neratinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Canertinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Response	A	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Non-small cell lung	Response	A	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Osimertinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Dacomitinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/33	only alteration type		SCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L861	Erlotinib,Gefitinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/1742	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L861Q	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/994	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR L861R	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1385	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR M766_A767insAI	Erlotinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/1572	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Afatinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/438	complete		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Gefitinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/438	complete		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Erlotinib,Gefitinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/438	complete		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Erlotinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/438	complete		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/438	complete		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR N826S	Erlotinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/1162	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR N826Y	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1772	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR N842S	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1775	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR P772_H773insYNP	Erlotinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/1575	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR R705K	Erlotinib,Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/2206	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR R776C	Erlotinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/1155	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR S720	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/701	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/558	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Erlotinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/558	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Gefitinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/558	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/558	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Gefitinib,Erlotinib	Lung adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Erlotinib	Non-small cell lung	Resistant	A	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Gefitinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Dacomitinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Erlotinib,Gefitinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Afatinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Gefitinib,Erlotinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Lapatinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Pemetrexed,Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Rociletinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Rociletinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib,Rociletinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Response	A	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Dacomitinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Neratinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Afatinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Canertinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Pancreas adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/34	only alteration type		PAAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR T847I	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1371	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR V742A	Erlotinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/975	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR V769_D770insASV	Erlotinib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/717	only alteration type		LUAD
-input01	EGFR (A289N), EGFR (A289D)	EGFR V774A	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1768	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR V774M	Erlotinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1770	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR V834I	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1773	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR V851I	Gefitinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1374	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Y764_V765insHH	Erlotinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/1573	only alteration type		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Platinum Compound,Cetuximab,Fluorouracil	Head an neck squamous	Response	B	NO	https://civicdb.org/links/molecular_profiles/190	only gene		HNSC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Osimertinib,Rociletinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/190	only gene		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/190	only gene		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Erlotinib,Gefitinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/190	only gene		NSCLC
-input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Gefitinib,Erlotinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/190	only gene		NSCLC
-input01	GNAQ (Q209R)	GNAQ Mutation	JQ1	Uveal melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/501	complete		UVM
-input01	GNAQ (Q209R)	GNAQ Mutation	Trametinib	Uveal melanoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/501	complete		UVM
-input01	GNAQ (Q209R)	GNAQ Mutation	Sotrastaurin Acetate,Mirdametinib	Uveal melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/501	complete		UVM
-input01	GNAQ (Q209R)	GNAQ Mutation	Cabozantinib	Uveal melanoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/501	complete		UVM
-input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ Q209	Selumetinib	Uveal melanoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/503	complete		UVM
-input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ Q209	Refametinib	Uveal melanoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/503	complete		UVM
-input01	HRAS (G12S)	HRAS Mutation	Tipifarnib	Bladder	Response	B	NO	https://civicdb.org/links/molecular_profiles/271	complete		BLCA
-input01	HRAS (G12S)	HRAS Mutation	Tipifarnib	Head an neck squamous	Response	B	NO	https://civicdb.org/links/molecular_profiles/271	complete		HNSC
-input01	JAK1 (V658F), JAK1 (S646F), JAK1 (A634D)	JAK1 S703I	Ruxolitinib	Hepatic carcinoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/800	only alteration type		HC
-input01	KIT wildtype	KIT WILDTYPE	Regorafenib	Gastrointestinal stromal	Response	B	NO	https://civicdb.org/links/molecular_profiles/2520	complete		GIST
-input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR E1799K	Sirolimus	Renal clear cell	Response	D	NO	https://civicdb.org/links/molecular_profiles/540	only alteration type		RCCC
-input01	MTOR (H1968Y)	MTOR H1968Y	PI3K/BET Inhibitor LY294002,Capivasertib	Cutaneous melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/279	complete		CM
-input01	MTOR (P2213S)	MTOR P2213S	PI3K/BET Inhibitor LY294002,Capivasertib	Cutaneous melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/280	complete		CM
-input01	NRAS (G13D)	NRAS G13D	Tanespimycin	Cutaneous melanoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/93	complete		CM
-input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	MEK Inhibitor RO4987655	Cutaneous melanoma	Resistant	C	NO	https://civicdb.org/links/molecular_profiles/208	complete		CM
-input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Dabrafenib,Vemurafenib	Cutaneous melanoma	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/208	complete		CM
-input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Trametinib	Cutaneous melanoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/208	complete		CM
-input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Trametinib,Omipalisib	Cutaneous melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/208	complete		CM
-input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Binimetinib	Cutaneous melanoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/208	complete		CM
-input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K)	NRAS Q61	Vemurafenib	Cutaneous melanoma	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/94	complete		CM
-input01	NRAS (Q61K)	NRAS Q61K	Binimetinib,Everolimus	Neuroblastoma	Response	D	NO	https://civicdb.org/links/molecular_profiles/423	complete		NB
-input01	NRAS (Q61K)	NRAS Q61K	Trametinib,Selumetinib	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/423	complete		NSCLC
-input01	NRAS (Q61L)	NRAS Q61L	Temozolomide	Cutaneous melanoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/95	complete		CM
-input01	NRAS (Q61R)	NRAS Q61R	Temozolomide	Cutaneous melanoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/96	complete		CM
-input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 Mutation	Chemotherapy	Small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/777	complete		SCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET CCDC6::RET	Nintedanib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/622	only gene		NSCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Cabozantinib	Lung adenocarcinoma	Response	B	NO	https://civicdb.org/links/molecular_profiles/1595	only gene		LUAD
-input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Vandetanib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/1595	only gene		NSCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Alectinib	Non-small cell lung	Response	C	NO	https://civicdb.org/links/molecular_profiles/1595	only gene		NSCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Selpercatinib	Non-small cell lung	Response	B	NO	https://civicdb.org/links/molecular_profiles/1595	only gene		NSCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Pralsetinib	Non-small cell lung	Response	A	NO	https://civicdb.org/links/molecular_profiles/1595	only gene		NSCLC
-input01	RET MUT* (FPEEEKCFC612-620-)	RET KIF5B::RET	Vandetanib	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/269	only gene		LUAD
-input01	RET MUT* (FPEEEKCFC612-620-)	RET KIF5B::RET	Vandetanib,Everolimus	Lung adenocarcinoma	Response	C	NO	https://civicdb.org/links/molecular_profiles/269	only gene		LUAD
-input01	RUNX1 (R201*)	RUNX1 Mutation	Cytarabine	Acute myeloid leukemia	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/155	complete		AML
-input01	STK11 (Q37*)	STK11 Mutation	Atezolizumab,Pembrolizumab,Nivolumab	Lung adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/molecular_profiles/696	complete		LUAD
-input01	STK11 (Q37*)	STK11 Loss	Docetaxel,Selumetinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/481	only gene		NSCLC
-input01	STK11 (Q37*)	STK11 Loss	Everolimus,Sirolimus	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/481	only gene		NSCLC
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Mutation	Selumetinib,Docetaxel	Non-small cell lung	Response	D	NO	https://civicdb.org/links/molecular_profiles/222	complete		NSCLC
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Mutation	Chemotherapy	Stomach	Response	B	NO	https://civicdb.org/links/molecular_profiles/222	complete		ST
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 R273H	Doxorubicin,Methotrexate	Osteosarcoma	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/122	only alteration type		OS
-input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Loss	Docetaxel	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/molecular_profiles/4407	only gene		NSCLC
+input01	AKT1 (E17K)	AKT1 E17K	Akt Inhibitor MK2206	Breast adenocarcinoma	Responsive	D	YES	https://civicdb.org/links/evidence_items/231	complete		BRCA
+input01	AKT1 (E17K)	AKT1 E17K	Capivasertib	Breast adenocarcinoma	Responsive	C	YES	https://civicdb.org/links/evidence_items/709	complete		BRCA
+input01	AKT1 (E17K)	AKT1 E17K	Vemurafenib	Cutaneous melanoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/4029	complete		CM
+input01	AKT1 (E17K)	AKT1 E17K	Uprosertib	Cutaneous melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/707	complete		CM
+input01	AKT1 (Q79K)	AKT1 Q79K	Vemurafenib	Cutaneous melanoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/439	complete		CM
+input01	AKT1 (Q79K)	AKT1 Q79K	Vemurafenib	Cutaneous melanoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/4498	complete		CM
+input01	AKT1 (Q79K)	AKT1 Q79K	Dabrafenib	Cutaneous melanoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/6260	complete		CM
+input01	ATM (N2875H)	ATM Mutation	Temozolomide	Cutaneous melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/453	complete		CM
+input01	ATM (N2875H)	ATM Mutation	Temozolomide	Glioblastoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/452	complete		GB
+input01	ATM (N2875H)	ATM Mutation	Olaparib	Prostate adenocarcinoma	Responsive	A	NO	https://civicdb.org/links/evidence_items/8505	complete		PRAD
+input01	BRAF wildtype	BRAF WILD TYPE	MEK Inhibitor RO4987655	Cutaneous melanoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/995	complete		CM
+input01	EGFR (A289N), EGFR (A289D)	EGFR A763_Y764insFQEA	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4497	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR A763_Y764insFQEA	Osimertinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/9225	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR A767_V769dupASV	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/4665	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR A767_V769dupASV	Osimertinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/9220	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR A864T	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4495	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR C797S	Osimertinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/1396	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR C797S	Osimertinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/evidence_items/964	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR D761Y	Erlotinib,Gefitinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/evidence_items/1763	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insG	Osimertinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/9223	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insGL	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/4494	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insGT	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/4643	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR D770_N771insNPG	Gefitinib,Afatinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/5947	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR D770delinsGY	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/4801	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR E746G	Erlotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1787	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR E746_A750del	Gefitinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2625	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR E746_A750del	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4198	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR EGFR::RAD51	Erlotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/5909	only gene		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR EGFR::RAD51	Icotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/7314	only gene		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR EGFR::RAD51	Erlotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/11015	only gene		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR EGFR::RAD51	Osimertinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/11021	only gene		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR G465R	Cetuximab,Panitumumab	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/1058	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR G465R	Futuximab/Modotuximab Mixture	Colorectal adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1057	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719	Erlotinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/1780	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719	Erlotinib,Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/4189	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719A	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/2508	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719A	Erlotinib,Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/6181	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719D	Gefitinib,Erlotinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4210	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719S	Cetuximab	Colorectal adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/787	only alteration type	823.0	COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719S	Gefitinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/274	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719S	Erlotinib,Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/1736	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR G719S	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4190	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR G724S	Cetuximab	Colorectal adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/786	only alteration type	823.0	COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR H773_V774insNPH	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/4493	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR K467T	Cetuximab	Colorectal adenocarcinoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/1083	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR K467T	Panitumumab,Futuximab/Modotuximab Mixture	Colorectal adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1082	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR K757R	Erlotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1786	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR K806E	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4239	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR KIF5B::EGFR	Afatinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/11026	only gene		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L747P	Gefitinib,Erlotinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4220	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L747_P753delinsS	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4266	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L747_P753delinsS	Erlotinib	Pancreas adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/6005	only alteration type		PAAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L747_S752delinsQ	Erlotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/4667	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L838P	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4252	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/879	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/883	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/982	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/2624	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/2634	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/4290	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Lung adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/4291	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Cetuximab	Lung adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/4292	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/6183	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Crizotinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/evidence_items/4288	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib,Erlotinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/229	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib,Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/275	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/276	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/885	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/968	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/1665	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/2621	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Lapatinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2626	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Dacomitinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2627	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Neratinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2628	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2629	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Canertinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2631	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/2632	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Responsive	A	NO	https://civicdb.org/links/evidence_items/2994	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Afatinib	Non-small cell lung	Responsive	A	NO	https://civicdb.org/links/evidence_items/2997	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4284	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4286	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4287	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Osimertinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4294	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Dacomitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/4860	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L858R	Erlotinib	Small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4293	only alteration type		SCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L861	Gefitinib,Erlotinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/4298	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L861Q	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/3802	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR L861R	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4669	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR M766_A767insAI	Erlotinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/evidence_items/4799	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Afatinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/1728	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/1937	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Erlotinib,Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/2053	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/2148	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Afatinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/2153	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/2559	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/3016	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Erlotinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/3794	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Erlotinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4201	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Mutation	Erlotinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/7024	complete		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR N826S	Erlotinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/evidence_items/4496	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR N826Y	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4244	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR N842S	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4256	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR P772_H773insYNP	Erlotinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/evidence_items/4802	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR R451C	Futuximab/Modotuximab Mixture,Cetuximab,Panitumumab	Colorectal adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1081	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR R705K	Erlotinib,Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/6182	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR R776C	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4468	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR S492R	Cetuximab	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/717	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S492R	Cetuximab	Colorectal adenocarcinoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/1080	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S492R	Panitumumab	Colorectal adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1078	only alteration type	826.0	COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S492R	Panitumumab,Futuximab/Modotuximab Mixture	Colorectal adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1079	only alteration type		COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S720	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/1782	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Erlotinib	Lung adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/4273	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Erlotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1394	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Gefitinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1395	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR S768I	Erlotinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/2906	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Gefitinib,Erlotinib	Lung adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/1391	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1397	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/2157	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Erlotinib	Non-small cell lung	Resistant	A	NO	https://civicdb.org/links/evidence_items/238	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Gefitinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/evidence_items/239	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Dacomitinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/evidence_items/240	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Erlotinib,Gefitinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/evidence_items/1667	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Afatinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/evidence_items/1863	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Gefitinib,Erlotinib	Non-small cell lung	Resistant	C	NO	https://civicdb.org/links/evidence_items/2158	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Gefitinib	Non-small cell lung	Resistant	B	NO	https://civicdb.org/links/evidence_items/2159	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Lapatinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/evidence_items/2160	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Pemetrexed,Erlotinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/277	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Rociletinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/646	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Rociletinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/762	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/963	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/965	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/966	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Rociletinib,Osimertinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/967	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Responsive	A	NO	https://civicdb.org/links/evidence_items/1592	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Non-small cell lung	Responsive	A	NO	https://civicdb.org/links/evidence_items/1867	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Dacomitinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2161	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Neratinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2162	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Afatinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2163	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Afatinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2164	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Canertinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2165	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR T790M	Osimertinib	Pancreas adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/6006	only alteration type		PAAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR T847I	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4260	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR V742A	Erlotinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/4197	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR V769_D770insASV	Erlotinib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1799	only alteration type		LUAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR V774A	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4226	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR V774M	Erlotinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4231	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR V834I	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4248	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR V851I	Gefitinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4264	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Y764_V765insHH	Erlotinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/evidence_items/4800	only alteration type		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Cetuximab,Panitumumab	Colorectal adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/854	only gene	834.0	COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Cetuximab	Colorectal adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/911	only gene	823.0	COREAD
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Platinum Compound,Cetuximab,Fluorouracil	Head an neck squamous	Responsive	B	NO	https://civicdb.org/links/evidence_items/691	only gene		HNSC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Rociletinib,Osimertinib	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/evidence_items/3015	only gene		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/948	only gene		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Erlotinib,Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/977	only gene		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Erlotinib,Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/5924	only gene		NSCLC
+input01	EGFR (A289N), EGFR (A289D)	EGFR Amplification	Erlotinib,Gefitinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/5925	only gene		NSCLC
+input01	GNAQ (Q209R)	GNAQ Mutation	JQ1	Uveal melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1210	complete		UVM
+input01	GNAQ (Q209R)	GNAQ Mutation	Trametinib	Uveal melanoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/1229	complete		UVM
+input01	GNAQ (Q209R)	GNAQ Mutation	Mirdametinib,Sotrastaurin Acetate	Uveal melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1953	complete		UVM
+input01	GNAQ (Q209R)	GNAQ Mutation	Cabozantinib	Uveal melanoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/5068	complete		UVM
+input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ Q209	Selumetinib	Uveal melanoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/1213	complete		UVM
+input01	GNAQ (Q209R), GNAQ MUT* (Q209L)	GNAQ Q209	Refametinib	Uveal melanoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1233	complete		UVM
+input01	GNAS (R844L), GNAS (Q870L)	GNAS R201C	Cetuximab,Vemurafenib,Irinotecan	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/1906	only alteration type		COREAD
+input01	HRAS (G12S)	HRAS G13D	Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/699	only alteration type		COREAD
+input01	HRAS (G12S)	HRAS G13D	Cetuximab	Colorectal adenocarcinoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/3852	only alteration type		COREAD
+input01	HRAS (G12S)	HRAS Mutation	Tipifarnib	Bladder	Responsive	B	NO	https://civicdb.org/links/evidence_items/9632	complete		BLCA
+input01	HRAS (G12S)	HRAS Mutation	Tipifarnib	Head an neck squamous	Responsive	B	NO	https://civicdb.org/links/evidence_items/9633	complete		HNSC
+input01	JAK1 (V658F), JAK1 (S646F), JAK1 (A634D)	JAK1 S703I	Ruxolitinib	Hepatic carcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1900	only alteration type		HC
+input01	KIT wildtype	KIT WILDTYPE	Regorafenib	Gastrointestinal stromal	Responsive	B	NO	https://civicdb.org/links/evidence_items/4144	complete		GIST
+input01	KRAS wildtype	KRAS Wildtype	Regorafenib	Colorectal adenocarcinoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/8840	complete		COREAD
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR A2034V	Sirolimus	Breast adenocarcinoma	Resistant	D	YES	https://civicdb.org/links/evidence_items/1547	only alteration type		BRCA
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR A2034V	RapaLink-1,MTOR Kinase Inhibitor AZD8055	Breast adenocarcinoma	Resistant	D	YES	https://civicdb.org/links/evidence_items/1548	only alteration type		BRCA
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR E1799K	Sirolimus	Renal clear cell	Responsive	D	NO	https://civicdb.org/links/evidence_items/1321	only alteration type	805.0	RCCC
+input01	MTOR (F2108L)	MTOR F2108L	Sirolimus	Breast adenocarcinoma	Resistant	D	YES	https://civicdb.org/links/evidence_items/1543	complete		BRCA
+input01	MTOR (F2108L)	MTOR F2108L	Everolimus	Thyroid carcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/1110	complete		THCA
+input01	MTOR (H1968Y)	MTOR H1968Y	PI3K/BET Inhibitor LY294002,Capivasertib	Cutaneous melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/713	complete		CM
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR M2327I	MTOR Kinase Inhibitor AZD8055	Breast adenocarcinoma	Resistant	D	YES	https://civicdb.org/links/evidence_items/1544	only alteration type		BRCA
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR M2327I	Sirolimus,RapaLink-1	Breast adenocarcinoma	Resistant	D	YES	https://civicdb.org/links/evidence_items/1545	only alteration type		BRCA
+input01	MTOR (R2505P), MTOR (I2500M), MTOR (I2500F), MTOR (E2419K), MTOR (Q2223K), MTOR (S2215F), MTOR (S2215Y), MTOR (S2215T), MTOR (P2213S), MTOR (F2108L), MTOR (E2014K), MTOR (H1968Y), MTOR (C1483W), MTOR (C1483F), MTOR (C1483Y), MTOR (C1483R), MTOR (L1460P)	MTOR Mutation	Everolimus,Pazopanib	Bladder	Responsive	C	NO	https://civicdb.org/links/evidence_items/705	complete		BLCA
+input01	MTOR (P2213S)	MTOR P2213S	PI3K/BET Inhibitor LY294002,Capivasertib	Cutaneous melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/722	complete		CM
+input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS G12C	Cetuximab,Chemotherapy	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/3845	only alteration type		COREAD
+input01	NRAS (G12D)	NRAS G12D	Irinotecan,Cetuximab	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/2002	complete		COREAD
+input01	NRAS (G12D)	NRAS G12D	Cetuximab	Colorectal adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/3693	complete		COREAD
+input01	NRAS (G13D)	NRAS G13D	Tanespimycin	Cutaneous melanoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/21	complete		CM
+input01	NRAS (G13R)	NRAS G13R	Cetuximab,Irinotecan	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/2204	complete		COREAD
+input01	NRAS (G13R)	NRAS G13R	Panitumumab	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/3842	complete		COREAD
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	MEK Inhibitor RO4987655	Cutaneous melanoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/996	complete		CM
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Dabrafenib,Vemurafenib	Cutaneous melanoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/6263	complete		CM
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Trametinib	Cutaneous melanoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/1227	complete		CM
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Trametinib,Omipalisib	Cutaneous melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1429	complete		CM
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Binimetinib	Cutaneous melanoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1509	complete		CM
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Cetuximab	Colorectal adenocarcinoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/1703	complete		COREAD
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Cetuximab,Chemotherapy	Colorectal adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/2210	complete		COREAD
+input01	NRAS (Q61H), NRAS (Q61H), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Mutation	Cetuximab,Panitumumab	Colorectal adenocarcinoma	Resistant	A	NO	https://civicdb.org/links/evidence_items/5344	complete		COREAD
+input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K), NRAS (A18T), NRAS (G13V), NRAS (G13A), NRAS (G13D), NRAS (G13C), NRAS (G13R), NRAS (G13S), NRAS (G12V), NRAS (G12A), NRAS (G12D)	NRAS Q179X	Cetuximab	Colorectal adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/4785	only alteration type		COREAD
+input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K)	NRAS Q61	Vemurafenib	Cutaneous melanoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/14	complete		CM
+input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K)	NRAS Q61	Cetuximab,Chemotherapy	Colorectal adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/36	complete		COREAD
+input01	NRAS (Q61H), NRAS (Q61H), NRAS MUT* (Q61L), NRAS MUT* (Q61R), NRAS (Q61L), NRAS (Q61R), NRAS (Q61P), NRAS MUT* (Q61R), NRAS (Q61*), NRAS (Q61E), NRAS (Q61K)	NRAS Q61	Cetuximab	Colorectal adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/124	complete		COREAD
+input01	NRAS (Q61H)	NRAS Q61H	Irinotecan,Cetuximab	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/3690	complete		COREAD
+input01	NRAS (Q61K)	NRAS Q61K	Cetuximab,Chemotherapy	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/2189	complete		COREAD
+input01	NRAS (Q61K)	NRAS Q61K	Selumetinib,Dactolisib	Colorectal adenocarcinoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/2192	complete		COREAD
+input01	NRAS (Q61K)	NRAS Q61K	Everolimus,Binimetinib	Neuroblastoma	Responsive	D	NO	https://civicdb.org/links/evidence_items/1002	complete		NB
+input01	NRAS (Q61K)	NRAS Q61K	Selumetinib,Trametinib	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/2907	complete		NSCLC
+input01	NRAS (Q61L)	NRAS Q61L	Temozolomide	Cutaneous melanoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/22	complete		CM
+input01	NRAS (Q61L)	NRAS Q61L	Cetuximab,Irinotecan	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/2181	complete		COREAD
+input01	NRAS (Q61R)	NRAS Q61R	Temozolomide	Cutaneous melanoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/23	complete		CM
+input01	NRAS (Q61R)	NRAS Q61R	Cetuximab	Colorectal adenocarcinoma	Resistant	C	NO	https://civicdb.org/links/evidence_items/2184	complete		COREAD
+input01	PIK3CA wildtype	PIK3CA Wildtype	Aspirin	Colorectal adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/2038	complete		COREAD
+input01	RB1 (R556*), RB1 (R579*), RB1 (C706F), RB1 (E748*)	RB1 Mutation	Chemotherapy	Small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/1866	complete		SCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET CCDC6::RET	Agerafenib	Colorectal adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/7480	only gene		COREAD
+input01	RET MUT* (FPEEEKCFC612-620-)	RET CCDC6::RET	Nintedanib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/1601	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Cabozantinib	Lung adenocarcinoma	Responsive	B	NO	https://civicdb.org/links/evidence_items/4847	only gene		LUAD
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Vandetanib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/4848	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Vandetanib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/4849	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Alectinib	Non-small cell lung	Responsive	C	NO	https://civicdb.org/links/evidence_items/4850	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Selpercatinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/7066	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Selpercatinib	Non-small cell lung	Responsive	B	NO	https://civicdb.org/links/evidence_items/8850	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Pralsetinib	Non-small cell lung	Responsive	A	NO	https://civicdb.org/links/evidence_items/11233	only gene		NSCLC
+input01	RET MUT* (FPEEEKCFC612-620-)	RET Fusion	Selpercatinib	Thyroid carcinoma	Responsive	A	NO	https://civicdb.org/links/evidence_items/8852	only gene		THCA
+input01	RET MUT* (FPEEEKCFC612-620-)	RET KIF5B::RET	Vandetanib	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/698	only gene		LUAD
+input01	RET MUT* (FPEEEKCFC612-620-)	RET KIF5B::RET	Vandetanib,Everolimus	Lung adenocarcinoma	Responsive	C	NO	https://civicdb.org/links/evidence_items/1622	only gene		LUAD
+input01	RUNX1 (R201*)	RUNX1 Mutation	Cytarabine	Acute myeloid leukemia	Resistant	B	NO	https://civicdb.org/links/evidence_items/411	complete		AML
+input01	SMAD4 (D537Y)	SMAD4 Mutation	Cetuximab,Panitumumab	Colorectal adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/719	complete		COREAD
+input01	STK11 (Q37*)	STK11 Mutation	Pembrolizumab,Nivolumab,Atezolizumab	Lung adenocarcinoma	Resistant	B	NO	https://civicdb.org/links/evidence_items/6441	complete		LUAD
+input01	STK11 (Q37*)	STK11 Loss	Selumetinib,Docetaxel	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/evidence_items/1144	only gene		NSCLC
+input01	STK11 (Q37*)	STK11 Loss	Everolimus,Sirolimus	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/1620	only gene		NSCLC
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 M237I	MDM2 Inhibitor AMGMDS3	Glioblastoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/4885	only alteration type		GB
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Mutation	Tamoxifen	Breast adenocarcinoma	Resistant	C	YES	https://civicdb.org/links/evidence_items/2784	complete		BRCA
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Mutation	Doxorubicin	Breast adenocarcinoma	Responsive	D	YES	https://civicdb.org/links/evidence_items/851	complete		BRCA
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Mutation	Selumetinib,Docetaxel	Non-small cell lung	Responsive	D	NO	https://civicdb.org/links/evidence_items/1145	complete		NSCLC
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Mutation	Pazopanib,Vorinostat	Solid tumors	Responsive	B	YES	https://civicdb.org/links/evidence_items/7540	complete		SOLID
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Mutation	Chemotherapy	Stomach	Responsive	B	NO	https://civicdb.org/links/evidence_items/850	complete		ST
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 R175H	Doxorubicin	Breast adenocarcinoma	Responsive	D	YES	https://civicdb.org/links/evidence_items/319	only alteration type		BRCA
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 R249	Doxorubicin	Breast adenocarcinoma	Responsive	B	YES	https://civicdb.org/links/evidence_items/399	only alteration type		BRCA
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 R273H	Methotrexate,Doxorubicin	Osteosarcoma	Resistant	D	NO	https://civicdb.org/links/evidence_items/7430	only alteration type		OS
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 R273L	Cisplatin,Carboplatin	Ovary	Resistant	C	NO	https://civicdb.org/links/evidence_items/2286	only alteration type		OV
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Y234C	Cisplatin,Carboplatin	Ovary	Resistant	C	NO	https://civicdb.org/links/evidence_items/2745	only alteration type		OV
+input01	TP53 (R306*), TP53 (E286V), TP53 (E286G), TP53 (E286A), TP53 (E286Q)	TP53 Loss	Docetaxel	Non-small cell lung	Resistant	D	NO	https://civicdb.org/links/evidence_items/1146	only gene		NSCLC
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results/cna_analysis.tsv b/example_files/cgi_test_out/cgi_test_out.cgi_results/cna_analysis.tsv
deleted file mode 100644
index 778c483..0000000
--- a/example_files/cgi_test_out/cgi_test_out.cgi_results/cna_analysis.tsv
+++ /dev/null
@@ -1,4 +0,0 @@
-internal_id	sample	gene	cna	cancer	predicted_in_tumors	gene_role	known_in_tumors	driver	driver_statement	predicted_match	known_match
-input01_1	test_1	ERBB2	AMP	CANCER	CESC;ESCA;HNSC;LUAD;PAAD;STAD;UCEC	Act	BRCA;OV;CANCER;NSCLC;ST;BT;COREAD;BLCA;GEJA;HNC;ED	known	known in: BRCA;OV;CANCER;NSCLC;ST;BT;COREAD;BLCA;GEJA;HNC;ED	known_match	known_match
-input01_2	test_1	TP53	DEL	CANCER	S	LoF	THYM;BCL	known	known in: THYM;BCL	known_match	known_match
-input01_3	test_1	EGFR	AMP	CANCER	BLCA;CESC;ESCA;LGG;LUAD;LUSC;STAD	Act	G;NSCLC;ED;HNSC;COREAD	known	known in: G;NSCLC;ED;HNSC;COREAD	known_match	known_match
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results/input01.tsv b/example_files/cgi_test_out/cgi_test_out.cgi_results/input01.tsv
index 3ab2abc..a4a1420 100644
--- a/example_files/cgi_test_out/cgi_test_out.cgi_results/input01.tsv
+++ b/example_files/cgi_test_out/cgi_test_out.cgi_results/input01.tsv
@@ -8,93 +8,93 @@
 ##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|FLAGS|VARIANT_CLASS|SYMBOL_SOURCE|HGNC_ID|CANONICAL|MANE_SELECT|MANE_PLUS_CLINICAL|TSL|APPRIS|CCDS|ENSP|SWISSPROT|TREMBL|UNIPARC|UNIPROT_ISOFORM|GENE_PHENO|SIFT|PolyPhen|DOMAINS|miRNA|AF|AFR_AF|AMR_AF|EAS_AF|EUR_AF|SAS_AF|AA_AF|EA_AF|gnomAD_AF|gnomAD_AFR_AF|gnomAD_AMR_AF|gnomAD_ASJ_AF|gnomAD_EAS_AF|gnomAD_FIN_AF|gnomAD_NFE_AF|gnomAD_OTH_AF|gnomAD_SAS_AF|MAX_AF|MAX_AF_POPS|FREQS|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS">
 ##INFO=<ID=QID,Number=.,Type=String,Description="Querynator ID">
 #CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
-1	11169361	.	C	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3744699
-1	11169375	.	A	C	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7734825
-1	11169377	.	T	A	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4990350
-1	11174420	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4246169
-1	11182179	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2388004
-1	11184573	.	G	A	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1527345
-1	11184573	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6270252
-1	11184574	.	A	T	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3102092
-1	11184580	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1746155
-1	11187094	.	G	T	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=1313945
-1	11187857	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3236047
-1	11188519	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8700937
-1	11217229	.	G	C	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5108921
-1	11217230	.	C	A	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3380766
-1	11217230	.	C	T	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2978136
-1	11217231	.	A	G	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1606415
-1	11217299	.	A	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9704791
-1	11856378	.	G	A	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=9915688
-1	16458722	.	C	T	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=2437215
-1	16464489	.	C	G	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=5087472
-1	16464489	.	C	T	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=7008926
-1	23235518	.	G	A	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8708707
-1	36933434	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=6671862
-1	36933444	.	T	C	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=4711307
-1	43814978	.	A	T	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=9112045
-1	43814979	.	G	A	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=5288713
-1	43815009	.	G	T	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=4722228
-1	65312347	.	C	A	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=2491223
-1	65312382	.	G	A	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=8899969
-1	65312418	.	G	T	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=1538728
-1	115256528	.	T	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4658766
-1	115256528	.	T	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4115311
-1	115256528	.	TT	CA	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=8393236
-1	115256528	.	TT	CC	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=2428627
-1	115256529	.	T	A	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4927461
-1	115256529	.	T	C	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3564378
-1	115256529	.	TG	CT	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=8880916
-1	115256529	.	T	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7049806
-1	115256530	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1923576
-1	115256530	.	G	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3726287
-1	115256530	.	G	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9040406
-1	115258730	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9146704
-1	115258744	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4683735
-1	115258744	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5046267
-1	115258744	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1004259
-1	115258745	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2321116
-1	115258745	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5441901
-1	115258745	.	C	T	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2666427
-1	115258747	.	C	A	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9188595
-1	115258747	.	C	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7339764
-1	115258747	.	C	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6610279
-7	55221821	.	GC	AA	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=1768798
-7	55221822	.	C	A	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3892747
-9	80409488	.	T	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3098257
-9	80409488	.	TG	AA	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=6921082
-10	43609077	.	CTTCCCTGAGGAGGAGAAGTGCTTCTGC	C	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=8038054
-11	534289	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=4587089
-11	8457665	.	A	C	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=5416609
-11	32417908	.	C	CACCGTACA	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=5798338
-11	65830499	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1782742
-11	65830884	.	A	G	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=8563176
-11	67352689	.	A	G	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=1154749
-11	108218044	.	A	C	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=3561112
-13	48955550	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2889115
-13	49027168	.	C	T	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=4495364
-13	49037877	.	G	T	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=5303302
-13	49039164	.	G	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=9336397
-14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=3156815
-14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=6394018
-14	105246551	.	C	T	.	.	DISEASE=breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma;PMID=23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||;QID=4696213
-14	105246551	.	C	T	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=1506234
-16	3788617	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=7653957
-16	3788618	.	G	A	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2970354
-16	3788618	.	G	C	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2785555
-16	69745145	.	G	A	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=7152809
-16	81946260	.	C	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=4985405
-16	81962183	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=9568332
-16	81962183	.	A	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=2012808
-17	7577022	.	G	A	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=6850825
-17	7577081	.	T	A	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=4829251
-17	7577081	.	T	C	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=5327814
-17	7577081	.	T	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=6431520
-17	7577082	.	C	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=9949104
-18	48604787	.	G	T	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=8014594
-19	1207021	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=1501289
-20	57484421	.	G	T	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=1074175
-20	57484596	.	A	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=8157695
-21	36231783	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=4326712
-22	41565529	.	G	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=6578479
-X	100611164	.	C	G	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3400584
+1	11169361	.	C	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4580782
+1	11169375	.	A	C	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3209279
+1	11169377	.	T	A	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2558221
+1	11174420	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8339125
+1	11182179	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8043490
+1	11184573	.	G	A	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9978383
+1	11184573	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7720974
+1	11184574	.	A	T	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8254898
+1	11184580	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9718750
+1	11187094	.	G	T	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=5554766
+1	11187857	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5349064
+1	11188519	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9546852
+1	11217229	.	G	C	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1777257
+1	11217230	.	C	A	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8667542
+1	11217230	.	C	T	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4564661
+1	11217231	.	A	G	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1009485
+1	11217299	.	A	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4987929
+1	11856378	.	G	A	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=1650397
+1	16458722	.	C	T	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=5762771
+1	16464489	.	C	G	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=2255776
+1	16464489	.	C	T	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=2306693
+1	23235518	.	G	A	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5480143
+1	36933434	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=2983255
+1	36933444	.	T	C	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=8033200
+1	43814978	.	A	T	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=6094160
+1	43814979	.	G	A	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=1785099
+1	43815009	.	G	T	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=3731083
+1	65312347	.	C	A	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=5887615
+1	65312382	.	G	A	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=9958612
+1	65312418	.	G	T	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=7084227
+1	115256528	.	T	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9141116
+1	115256528	.	T	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9191168
+1	115256528	.	TT	CA	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=5335782
+1	115256528	.	TT	CC	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=2316148
+1	115256529	.	T	A	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9121210
+1	115256529	.	T	C	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4545130
+1	115256529	.	TG	CT	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=1042289
+1	115256529	.	T	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7689375
+1	115256530	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4309104
+1	115256530	.	G	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8335601
+1	115256530	.	G	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9881851
+1	115258730	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8212670
+1	115258744	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6399676
+1	115258744	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2637206
+1	115258744	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4258223
+1	115258745	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6055955
+1	115258745	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8033165
+1	115258745	.	C	T	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9789023
+1	115258747	.	C	A	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5092183
+1	115258747	.	C	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9037188
+1	115258747	.	C	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9664066
+7	55221821	.	GC	AA	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=3955283
+7	55221822	.	C	A	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2574659
+9	80409488	.	T	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2553161
+9	80409488	.	TG	AA	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=6761480
+10	43609077	.	CTTCCCTGAGGAGGAGAAGTGCTTCTGC	C	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=8917004
+11	534289	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=4929727
+11	8457665	.	A	C	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=5529836
+11	32417908	.	C	CACCGTACA	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=2042601
+11	65830499	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1606211
+11	65830884	.	A	G	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=5806386
+11	67352689	.	A	G	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=2296976
+11	108218044	.	A	C	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=1204346
+13	48955550	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3144661
+13	49027168	.	C	T	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=2600460
+13	49037877	.	G	T	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=6055776
+13	49039164	.	G	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8931114
+14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=1641754
+14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=2111546
+14	105246551	.	C	T	.	.	DISEASE=breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma;PMID=23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||;QID=8909299
+14	105246551	.	C	T	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=5808481
+16	3788617	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=4837294
+16	3788618	.	G	A	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=8568900
+16	3788618	.	G	C	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=6432609
+16	69745145	.	G	A	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=4545480
+16	81946260	.	C	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=9606588
+16	81962183	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=1348808
+16	81962183	.	A	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=2029848
+17	7577022	.	G	A	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=3686245
+17	7577081	.	T	A	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=7061584
+17	7577081	.	T	C	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=2523161
+17	7577081	.	T	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=1383811
+17	7577082	.	C	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8675058
+18	48604787	.	G	T	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=2054827
+19	1207021	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=5001857
+20	57484421	.	G	T	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=1226805
+20	57484596	.	A	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=7040058
+21	36231783	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=4689546
+22	41565529	.	G	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=5138149
+X	100611164	.	C	G	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5761324
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results/metadata.txt b/example_files/cgi_test_out/cgi_test_out.cgi_results/metadata.txt
index f6f70b5..c20270b 100644
--- a/example_files/cgi_test_out/cgi_test_out.cgi_results/metadata.txt
+++ b/example_files/cgi_test_out/cgi_test_out.cgi_results/metadata.txt
@@ -1,5 +1,5 @@
-CGI query date: 2023-05-30
+CGI query date: 2024-09-09
 API version: https://www.cancergenomeinterpreter.org/api/v1/
-Input mutations: /Users/students/Documents/work_dir/querynator/example_files/example.vcf
+Input mutations: /home-link/zxmgc83/querynator/example_files/example.vcf
 Reference genome: GRCh37
 Filtered out synonymous & low impact variants based on VEP annotation
\ No newline at end of file
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results/report.txt b/example_files/cgi_test_out/cgi_test_out.cgi_results/report.txt
deleted file mode 100644
index 581e405..0000000
--- a/example_files/cgi_test_out/cgi_test_out.cgi_results/report.txt
+++ /dev/null
@@ -1,24 +0,0 @@
-==============================
-=== Report of the analysis ===
-==============================
-
-Date: 2023-05-30 15:43:09
-CGI version: v23.05.3
-
-Analysed mutations: 88
-Cancer type: CANCER
-Dataset: input.tsv
-Date: 2023-05-30 13:42:47
-Drivers: 81
-Drivers per sample: 81.0
-Id: cfa230edfac4ad4897c8
-Known drivers: 74
-Mutations per sample: 88.0
-Predicted drivers: 51
-Prescription complete: 387
-Prescription repurposing: 0
-Reference: hg19
-Samples: 1
-Samples without drivers: 0
-Title: CGI_query
-User: forsky2@gmx.de
diff --git a/example_files/cgi_test_out/cgi_test_out.cgi_results/summary.txt b/example_files/cgi_test_out/cgi_test_out.cgi_results/summary.txt
new file mode 100644
index 0000000..e5a2849
--- /dev/null
+++ b/example_files/cgi_test_out/cgi_test_out.cgi_results/summary.txt
@@ -0,0 +1,29 @@
+===============================
+=== Summary of the analysis ===
+===============================
+
+=== CGI-ANALYSIS ===
+Analysis Code: CGI_query
+Analysis ID: 45474d2bd5ff2e2a81e3
+CGI version: v23.12.2
+Date: 2024-09-09 12:17:40
+
+=== INPUT ===
+Analysed mutations: 88
+Analysed cnas: 0
+Analysed fusions: 0
+Total samples: 1
+Cancer type: BRCA
+Reference genome: hg19
+
+=== ALTERATIONS ===
+Driver mutations: 84
+Predicted and annotated drivers: 47
+Predicted drivers: 4
+Annotated drivers: 33
+
+=== BIOMARKERS ===
+Biomarkers in cancer type: 33
+Biomarkers in cancer type - Level A: 1
+Biomarkers in other cancer type: 441
+
diff --git a/example_files/cgi_test_out/vcf_files/cgi_test_out.filtered_variants.vcf b/example_files/cgi_test_out/vcf_files/cgi_test_out.filtered_variants.vcf
index 3ab2abc..a4a1420 100644
--- a/example_files/cgi_test_out/vcf_files/cgi_test_out.filtered_variants.vcf
+++ b/example_files/cgi_test_out/vcf_files/cgi_test_out.filtered_variants.vcf
@@ -8,93 +8,93 @@
 ##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|FLAGS|VARIANT_CLASS|SYMBOL_SOURCE|HGNC_ID|CANONICAL|MANE_SELECT|MANE_PLUS_CLINICAL|TSL|APPRIS|CCDS|ENSP|SWISSPROT|TREMBL|UNIPARC|UNIPROT_ISOFORM|GENE_PHENO|SIFT|PolyPhen|DOMAINS|miRNA|AF|AFR_AF|AMR_AF|EAS_AF|EUR_AF|SAS_AF|AA_AF|EA_AF|gnomAD_AF|gnomAD_AFR_AF|gnomAD_AMR_AF|gnomAD_ASJ_AF|gnomAD_EAS_AF|gnomAD_FIN_AF|gnomAD_NFE_AF|gnomAD_OTH_AF|gnomAD_SAS_AF|MAX_AF|MAX_AF_POPS|FREQS|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS">
 ##INFO=<ID=QID,Number=.,Type=String,Description="Querynator ID">
 #CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
-1	11169361	.	C	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3744699
-1	11169375	.	A	C	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7734825
-1	11169377	.	T	A	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4990350
-1	11174420	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4246169
-1	11182179	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2388004
-1	11184573	.	G	A	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1527345
-1	11184573	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6270252
-1	11184574	.	A	T	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3102092
-1	11184580	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1746155
-1	11187094	.	G	T	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=1313945
-1	11187857	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3236047
-1	11188519	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8700937
-1	11217229	.	G	C	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5108921
-1	11217230	.	C	A	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3380766
-1	11217230	.	C	T	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2978136
-1	11217231	.	A	G	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1606415
-1	11217299	.	A	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9704791
-1	11856378	.	G	A	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=9915688
-1	16458722	.	C	T	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=2437215
-1	16464489	.	C	G	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=5087472
-1	16464489	.	C	T	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=7008926
-1	23235518	.	G	A	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8708707
-1	36933434	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=6671862
-1	36933444	.	T	C	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=4711307
-1	43814978	.	A	T	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=9112045
-1	43814979	.	G	A	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=5288713
-1	43815009	.	G	T	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=4722228
-1	65312347	.	C	A	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=2491223
-1	65312382	.	G	A	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=8899969
-1	65312418	.	G	T	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=1538728
-1	115256528	.	T	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4658766
-1	115256528	.	T	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4115311
-1	115256528	.	TT	CA	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=8393236
-1	115256528	.	TT	CC	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=2428627
-1	115256529	.	T	A	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4927461
-1	115256529	.	T	C	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3564378
-1	115256529	.	TG	CT	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=8880916
-1	115256529	.	T	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7049806
-1	115256530	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1923576
-1	115256530	.	G	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3726287
-1	115256530	.	G	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9040406
-1	115258730	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9146704
-1	115258744	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4683735
-1	115258744	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5046267
-1	115258744	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1004259
-1	115258745	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2321116
-1	115258745	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5441901
-1	115258745	.	C	T	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2666427
-1	115258747	.	C	A	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9188595
-1	115258747	.	C	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7339764
-1	115258747	.	C	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6610279
-7	55221821	.	GC	AA	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=1768798
-7	55221822	.	C	A	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3892747
-9	80409488	.	T	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3098257
-9	80409488	.	TG	AA	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=6921082
-10	43609077	.	CTTCCCTGAGGAGGAGAAGTGCTTCTGC	C	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=8038054
-11	534289	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=4587089
-11	8457665	.	A	C	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=5416609
-11	32417908	.	C	CACCGTACA	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=5798338
-11	65830499	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1782742
-11	65830884	.	A	G	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=8563176
-11	67352689	.	A	G	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=1154749
-11	108218044	.	A	C	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=3561112
-13	48955550	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2889115
-13	49027168	.	C	T	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=4495364
-13	49037877	.	G	T	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=5303302
-13	49039164	.	G	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=9336397
-14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=3156815
-14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=6394018
-14	105246551	.	C	T	.	.	DISEASE=breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma;PMID=23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||;QID=4696213
-14	105246551	.	C	T	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=1506234
-16	3788617	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=7653957
-16	3788618	.	G	A	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2970354
-16	3788618	.	G	C	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2785555
-16	69745145	.	G	A	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=7152809
-16	81946260	.	C	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=4985405
-16	81962183	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=9568332
-16	81962183	.	A	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=2012808
-17	7577022	.	G	A	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=6850825
-17	7577081	.	T	A	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=4829251
-17	7577081	.	T	C	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=5327814
-17	7577081	.	T	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=6431520
-17	7577082	.	C	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=9949104
-18	48604787	.	G	T	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=8014594
-19	1207021	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=1501289
-20	57484421	.	G	T	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=1074175
-20	57484596	.	A	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=8157695
-21	36231783	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=4326712
-22	41565529	.	G	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=6578479
-X	100611164	.	C	G	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3400584
+1	11169361	.	C	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4580782
+1	11169375	.	A	C	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3209279
+1	11169377	.	T	A	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2558221
+1	11174420	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8339125
+1	11182179	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8043490
+1	11184573	.	G	A	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9978383
+1	11184573	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7720974
+1	11184574	.	A	T	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8254898
+1	11184580	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9718750
+1	11187094	.	G	T	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=5554766
+1	11187857	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5349064
+1	11188519	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9546852
+1	11217229	.	G	C	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1777257
+1	11217230	.	C	A	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8667542
+1	11217230	.	C	T	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4564661
+1	11217231	.	A	G	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1009485
+1	11217299	.	A	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4987929
+1	11856378	.	G	A	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=1650397
+1	16458722	.	C	T	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=5762771
+1	16464489	.	C	G	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=2255776
+1	16464489	.	C	T	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=2306693
+1	23235518	.	G	A	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5480143
+1	36933434	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=2983255
+1	36933444	.	T	C	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=8033200
+1	43814978	.	A	T	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=6094160
+1	43814979	.	G	A	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=1785099
+1	43815009	.	G	T	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=3731083
+1	65312347	.	C	A	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=5887615
+1	65312382	.	G	A	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=9958612
+1	65312418	.	G	T	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=7084227
+1	115256528	.	T	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9141116
+1	115256528	.	T	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9191168
+1	115256528	.	TT	CA	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=5335782
+1	115256528	.	TT	CC	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=2316148
+1	115256529	.	T	A	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9121210
+1	115256529	.	T	C	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4545130
+1	115256529	.	TG	CT	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=1042289
+1	115256529	.	T	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7689375
+1	115256530	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4309104
+1	115256530	.	G	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8335601
+1	115256530	.	G	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9881851
+1	115258730	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8212670
+1	115258744	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6399676
+1	115258744	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2637206
+1	115258744	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4258223
+1	115258745	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6055955
+1	115258745	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8033165
+1	115258745	.	C	T	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9789023
+1	115258747	.	C	A	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5092183
+1	115258747	.	C	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9037188
+1	115258747	.	C	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9664066
+7	55221821	.	GC	AA	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=3955283
+7	55221822	.	C	A	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2574659
+9	80409488	.	T	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2553161
+9	80409488	.	TG	AA	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=6761480
+10	43609077	.	CTTCCCTGAGGAGGAGAAGTGCTTCTGC	C	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=8917004
+11	534289	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=4929727
+11	8457665	.	A	C	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=5529836
+11	32417908	.	C	CACCGTACA	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=2042601
+11	65830499	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1606211
+11	65830884	.	A	G	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=5806386
+11	67352689	.	A	G	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=2296976
+11	108218044	.	A	C	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=1204346
+13	48955550	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3144661
+13	49027168	.	C	T	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=2600460
+13	49037877	.	G	T	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=6055776
+13	49039164	.	G	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8931114
+14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=1641754
+14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=2111546
+14	105246551	.	C	T	.	.	DISEASE=breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma;PMID=23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||;QID=8909299
+14	105246551	.	C	T	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=5808481
+16	3788617	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=4837294
+16	3788618	.	G	A	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=8568900
+16	3788618	.	G	C	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=6432609
+16	69745145	.	G	A	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=4545480
+16	81946260	.	C	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=9606588
+16	81962183	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=1348808
+16	81962183	.	A	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=2029848
+17	7577022	.	G	A	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=3686245
+17	7577081	.	T	A	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=7061584
+17	7577081	.	T	C	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=2523161
+17	7577081	.	T	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=1383811
+17	7577082	.	C	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8675058
+18	48604787	.	G	T	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=2054827
+19	1207021	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=5001857
+20	57484421	.	G	T	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=1226805
+20	57484596	.	A	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=7040058
+21	36231783	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=4689546
+22	41565529	.	G	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=5138149
+X	100611164	.	C	G	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5761324
diff --git a/example_files/civic_test_out/civic_test_out.civic_results.tsv b/example_files/civic_test_out/civic_test_out.civic_results.tsv
index 6b63bae..14415a7 100644
--- a/example_files/civic_test_out/civic_test_out.civic_results.tsv
+++ b/example_files/civic_test_out/civic_test_out.civic_results.tsv
@@ -1,18 +1,19 @@
 chr	start	stop	ref	alt	querynator_id	variant_name	variant_aliases	variant_type	variant_clinvar_entries	variant_entrez_id	variant_entrez_name	variant_hgvs_expressions	variant_groups	gene_name	gene_aliases	gene_description	gene_entrez_id	gene_source	mol_profile_name	mol_profile_definition	mol_profile_score	assertion_name	assertion_acmg_codes	assertion_acmg_codes_description	assertion_amp_level	assertion_direction	assertion_type	assertion_description	assertion_disease_name	assertion_disease_doid	assertion_disease_url	assertion_disease_aliases	assertion_phenotypes	assertion_significance	assertion_status	assertion_summary	assertion_therapies_name	assertion_therapies_ncit_id	assertion_therapies_aliases	assertion_therapies_interaction_type	assertion_variant_origin	evidence_name	evidence_description	evidence_disease	evidence_level	evidence_support	evidence_type	evidence_phenotypes	evidence_rating	evidence_significance	evidence_source	evidence_status	evidence_therapies	evidence_therapy_interaction_type
-1	11184573	11184573	G	T	4454314	S2215Y	SER2215TYR	Missense Variant	376129	2475	MTOR	ENST00000361445.4:c.6644C>A, NC_000001.10:g.11184573G>T, NM_004958.3:c.6644C>A, NP_004949.1:p.Ser2215Tyr		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, Curr Cancer Drug Targets, PubMed: Guertin et al., 2007, Cancer Cell, PubMed: Porta et al., 2014, Front Oncol	MTOR S2215Y		2.0																																	
-1	11184580	11184580	G	A	7962649	P2213S	PRO2213SER	Missense Variant, Gain Of Function Variant	376358	2475	MTOR	ENST00000361445.4:c.6637C>T, NC_000001.10:g.11184580G>A, NM_004958.3:c.6637C>T, NP_004949.1:p.Pro2213Ser		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, Curr Cancer Drug Targets, PubMed: Guertin et al., 2007, Cancer Cell, PubMed: Porta et al., 2014, Front Oncol	MTOR P2213S		3.0																																	
-1	11187094	11187094	G	T	4231866	F2108L	PHE2108LEU	Missense Variant	NONE FOUND	2475	MTOR	ENST00000361445.4:c.6324C>A, NC_000001.10:g.11187094G>T		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, Curr Cancer Drug Targets, PubMed: Guertin et al., 2007, Cancer Cell, PubMed: Porta et al., 2014, Front Oncol	MTOR F2108L		16.5																																	
-1	11187857	11187857	C	T	3041185	E2014K		Missense Variant	376131	2475	MTOR	NM_004958.4:c.6040G>A, NC_000001.10:g.11187857C>T, NP_004949.1:p.Glu2014Lys		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, Curr Cancer Drug Targets, PubMed: Guertin et al., 2007, Cancer Cell, PubMed: Porta et al., 2014, Front Oncol	MTOR E2014K AND MTOR E2419K		0.0																																	
-1	11188519	11188519	G	A	1437984	H1968Y	HIS1968TYR	Missense Variant, Gain Of Function Variant	376357	2475	MTOR	ENST00000361445.4:c.5902C>T, NC_000001.10:g.11188519G>A, NM_004958.3:c.5902C>T, NP_004949.1:p.His1968Tyr		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, Curr Cancer Drug Targets, PubMed: Guertin et al., 2007, Cancer Cell, PubMed: Porta et al., 2014, Front Oncol	MTOR H1968Y		3.0																																	
-1	11217230	11217230	C	T	1568206	C1483Y	CYS1483TYR	Missense Variant	376453	2475	MTOR	ENST00000361445.4:c.4448G>A, NC_000001.10:g.11217230C>T, NM_004958.3:c.4448G>A, NP_004949.1:p.Cys1483Tyr		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, Curr Cancer Drug Targets, PubMed: Guertin et al., 2007, Cancer Cell, PubMed: Porta et al., 2014, Front Oncol	MTOR C1483Y		2.0																																	
-1	11856378	11856378	G	A	3099550	A222V	RS1801133, C677T, ALA222VAL	Missense Variant	3520	4524	MTHFR	NM_005957.4:c.665C>T, NP_005948.3:p.Ala222Val, ENST00000376592.1:c.665G>A, NC_000001.10:g.11856378G>A		MTHFR	MTHFR		4524		MTHFR A222V		55.0																																	
-1	36933434	36933434	G	A	1843490	T618I	THR618ILE	Missense Variant	208339	1441	CSF3R	NP_724781.1:p.Thr618Ile, NM_156039.3:c.1853C>T, ENST00000373103.1:c.1853G>A, NC_000001.10:g.36933434G>A, NC_000001.11:g.36467833G>A		CSF3R	CD114, CSF3R, GCSFR, SCN7		1441		CSF3R T618I		14.0																																	
-1	115256528	115256528	T	G	8103256	Q61H	RS121913255, GLN61HIS	Missense Variant	375871	4893	NRAS	NM_002524.4:c.183A>C, NP_002515.1:p.Gln61His, NC_000001.10:g.115256528T>G, ENST00000369535.4:c.183A>C		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61H		5.0																																	
-1	115256529	115256529	T	A	4234228	Q61L	GLN61LEU, RS11554290	Missense Variant	375874	4893	NRAS	NP_002515.1:p.Gln61Leu, NC_000001.10:g.115256529T>A, NM_002524.4:c.182A>T, ENST00000369535.4:c.182A>T		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61L	NRAS Q61 mutations have been found in multiple myeloma, gastrointestinal stromal tumors, melanoma, and others. A melanoma patient harboring a mutation at this locus responded to treatment with the akylating agent temozolomide. However, in colorectal cancer patients, mutations at this locus have been shown to confer resistance to cetuximab. The prognostic impact of mutations at this locus is currently under study.	12.5																																	
-1	115256529	115256529	T	C	2952738	Q61R	GLN61ARG, RS11554290	Missense Variant	13900	4893	NRAS	NM_002524.4:c.182A>G, NP_002515.1:p.Gln61Arg, NC_000001.10:g.115256529T>C, ENST00000369535.4:c.182A>G		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61R	NRAS Q61 mutations have been found in multiple myeloma, gastrointestinal stromal tumors, melanoma, and others. A melanoma patient harboring a mutation at this locus responded to treatment with the akylating agent temozolomide. However, in colorectal cancer patients, mutations at this locus have been shown to confer resistance to cetuximab. The prognostic impact of mutations at this locus is currently under study.	10.0																																	
-1	115256530	115256530	G	T	1787986	Q61K	GLN61LYS, RS121913254	Missense Variant	73058	4893	NRAS	NM_002524.4:c.181C>A, NP_002515.1:p.Gln61Lys, NC_000001.10:g.115256530G>T, ENST00000369535.4:c.181C>A		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61K		24.5																																	
-1	115258744	115258744	C	T	5465086	G13D	GLY13ASP, RS121434596	Missense Variant	13901	4893	NRAS	NM_002524.4:c.38G>A, NP_002515.1:p.Gly13Asp, NC_000001.10:g.115258744C>T, ENST00000369535.4:c.38G>A		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G13D	While the NRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still debated.	5.0																																	
-1	115258745	115258745	C	A	4337967	G13C	RS121434595, GLY13CYS	Missense Variant	40471	4893	NRAS	NM_002524.4:c.37G>T, NP_002515.1:p.Gly13Cys, NC_000001.10:g.115258745C>A, ENST00000369535.4:c.37G>T		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G13C		0.0																																	
-1	115258745	115258745	C	G	7718445	G13R	RS121434595, GLY13ARG	Missense Variant	13899	4893	NRAS	NM_002524.4:c.37G>C, NP_002515.1:p.Gly13Arg, NC_000001.10:g.115258745C>G, ENST00000369535.4:c.37G>C		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G13R		5.0																																	
-1	115258747	115258747	C	A	5160928	G12V	RS121913237	Missense Variant	40470	4893	NRAS	NM_002524.4:c.35G>T, NP_002515.1:p.Gly12Val, NC_000001.10:g.115258747C>A, ENST00000369535.4:c.35G>T		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G12V		0.0																																	
-1	115258747	115258747	C	T	7082271	G12D	RS121913237, GLY12ASP	Missense Variant	39648	4893	NRAS	NM_002524.4:c.35G>A, NP_002515.1:p.Gly12Asp, NC_000001.10:g.115258747C>T, ENST00000369535.4:c.35G>A		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G12D		7.5																																	
+1	11184573	11184573	G	T	6414403	S2215Y	SER2215TYR	Missense Variant	376129	2475	MTOR	ENST00000361445.4:c.6644C>A, NC_000001.10:g.11184573G>T, NM_004958.3:c.6644C>A, NP_004949.1:p.Ser2215Tyr		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, PubMed: Guertin et al., 2007, PubMed: Porta et al., 2014	MTOR S2215Y		2.0																					EID1319	Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line JHUEM7 with the MTOR mutation S2215Y was hypersensitive to rapamycin treatment (IC50 of 0.23 nmol/L).	Endometrial Adenocarcinoma	D	SUPPORTS	PREDICTIVE		2	SENSITIVITYRESPONSE	PubMed: Grabiner et al., 2014	accepted	Sirolimus	
+1	11184580	11184580	G	A	9920047	P2213S	PRO2213SER	Missense Variant, Gain Of Function Variant	376358	2475	MTOR	ENST00000361445.4:c.6637C>T, NC_000001.10:g.11184580G>A, NM_004958.3:c.6637C>T, NP_004949.1:p.Pro2213Ser		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, PubMed: Guertin et al., 2007, PubMed: Porta et al., 2014	MTOR P2213S		3.0																					EID722	In a cell line (HEK293T) with expression of H1968Y or P2213S mTOR mutations, LY294002 and AZD5363 were more effective than temsirolimus or BYL719 in suppressing cell growth.	Melanoma	D	SUPPORTS	PREDICTIVE		3	SENSITIVITYRESPONSE	PubMed: Kong et al., 2016	accepted	Capivasertib+PI3K/BET Inhibitor LY294002	COMBINATION
+1	11187094	11187094	G	T	7774031	F2108L	PHE2108LEU	Missense Variant	NONE FOUND	2475	MTOR	ENST00000361445.4:c.6324C>A, NC_000001.10:g.11187094G>T		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, PubMed: Guertin et al., 2007, PubMed: Porta et al., 2014	MTOR F2108L		16.5																					EID1110,EID1543	The pretreatment tumor contained a somatic nonsense mutation (Q1178*) in the tumor-suppressor gene TSC2 that inactivates the gene, allowing for activation of the mTOR pathway and resulting in sensitivity to mTOR inhibition by everolimus. The patient received a sustained response to everolimus for 18 months, after which time resistance developed. The resistant tumor had a somatic mutation in MTOR (F2108L), that was not detected in the pretreatment tumor.|MCF-7 breast cancer cell line was exposed to mTOR inhibitors AZD8055 or rapamycin until resistance developed. Deep sequencing revealed an MTOR F2108L mutation in rapamycin-resistant clones (RR2 cells). Downstream signalling was independent of inhibitor presence in these clones and expression of the mutations in MDA-MB-468 cells led to resistance.	Thyroid Gland Carcinoma,Breast Cancer	C,D	SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE	,	5,4	RESISTANCE,RESISTANCE	PubMed: Wagle et al., 2014|PubMed: Rodrik-Outmezguine et al., 2016	accepted,accepted	Everolimus,Sirolimus	,
+1	11187857	11187857	C	T	6478070	E2014K		Missense Variant	376131	2475	MTOR	NM_004958.4:c.6040G>A, NC_000001.10:g.11187857C>T, NP_004949.1:p.Glu2014Lys		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, PubMed: Guertin et al., 2007, PubMed: Porta et al., 2014	MTOR E2014K AND MTOR E2419K		5.0																					EID1438	"A phase 1 clinical trial identified a patient with chemotherapy-refractory urothelial carcinoma who had complete radiographic response lasting 14 months after combined everolimus and pazopanib treatment. This patient was exome sequenced and two mutations co-occurring in MTOR were identified. Expression of these mutations in HEK293T cells demonstrated these were activating mutations. The authors propose that these two activating mutations are the reason for the dramatic response to mTOR inhibition and considered them as ""biologically plausible"" to confer sensitivity to everolimus."	Transitional Cell Carcinoma	C	SUPPORTS	PREDICTIVE		2	SENSITIVITYRESPONSE	PubMed: Wagle et al., 2014	accepted	Pazopanib+Everolimus	COMBINATION
+1	11188519	11188519	G	A	1030844	H1968Y	HIS1968TYR	Missense Variant, Gain Of Function Variant	376357	2475	MTOR	ENST00000361445.4:c.5902C>T, NC_000001.10:g.11188519G>A, NM_004958.3:c.5902C>T, NP_004949.1:p.His1968Tyr		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, PubMed: Guertin et al., 2007, PubMed: Porta et al., 2014	MTOR H1968Y		3.0																					EID713,EID721	In a cell line (HEK293T) with expression of H1968Y or P2213S mTOR mutations, LY294002 and AZD5363 were more effective than temsirolimus or BYL719 in suppressing cell growth.|In a cell line with expression of H1968Y or P2213S mTOR mutations, LY294002 and AZD5363 were more effective than temsirolimus or BYL719 in suppressing cell growth.	Melanoma,Melanoma	D,D	SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE	,	3,3	SENSITIVITYRESPONSE,SENSITIVITYRESPONSE	PubMed: Kong et al., 2016|PubMed: Kong et al., 2016	accepted,rejected	PI3K/BET Inhibitor LY294002+Capivasertib,Capivasertib	SUBSTITUTES,
+1	11217230	11217230	C	T	7812685	C1483Y	CYS1483TYR	Missense Variant	376453	2475	MTOR	ENST00000361445.4:c.4448G>A, NC_000001.10:g.11217230C>T, NM_004958.3:c.4448G>A, NP_004949.1:p.Cys1483Tyr		MTOR	FRAP, FRAP1, FRAP2, MTOR, RAFT1, RAPT1, SKS	mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.	2475	PubMed: Baldo et al., 2008, PubMed: Guertin et al., 2007, PubMed: Porta et al., 2014	MTOR C1483Y		2.0																					EID1320	Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line MOLT16, with MTOR mutation C1483Y was hypersensitive to rapamycin treatment (IC50 of 0.75 nmol/L).	T-cell Acute Lymphoblastic Leukemia	D	SUPPORTS	PREDICTIVE		2	SENSITIVITYRESPONSE	PubMed: Grabiner et al., 2014	accepted	Sirolimus	
+1	11856378	11856378	G	A	4866096	A222V	RS1801133, C677T, ALA222VAL	Missense Variant	3520	4524	MTHFR	NM_005957.4:c.665C>T, NP_005948.3:p.Ala222Val, ENST00000376592.1:c.665G>A, NC_000001.10:g.11856378G>A		MTHFR	MTHFR		4524		MTHFR A222V		55.0																					EID1756,EID1757,EID669	Study of 1817 PCa cases and 2026 cancer free controls to clarify the association of (MTHFR)c.677C>T (and c.1298A>C ) of pancreatic cancer risk in a population of Han Chinese in Shanghai. Results indicated a lower risk for the heterozygous CT genotype and homozygous TT genotype carriers of (MTHFR)c.677C>T which had a significantly lower risk of developing pancreatic cancer compared with the wild-type CC genotype.|Patients with the wild type (C/C) MTHFR gene are 2.91 times (95% CI: [1.23, 6.89]) more likely to have a positive response to neoadjuvant CRT and  3.25 times more likely not to experience relapse (95% CI: [1.37, 7.72]) than patients with the heterozygous  MTHFR [rs1801133 (C>T)] mutation or  the homzygous (T/T).|The MTHFR C667T variant was associated with significantly lower relapse-free survival and overall survival in stomach cancer patients treated with 5-Fluorouracil-based therapies. 116 Chinese patients with histologically confirmed gastric cancer were used in this study, and all patients had radical surgery before treatment.	Pancreatic Cancer,Rectum Cancer,Stomach Cancer	B,B,B	SUPPORTS,SUPPORTS,SUPPORTS	PREDISPOSING,PREDICTIVE,PREDICTIVE	,,	4,4,3	PROTECTIVENESS,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE	PubMed: Wu et al., 2016|PubMed: Nikas et al., 2015|PubMed: Huang et al., 2009	accepted,accepted,accepted	,Fluorouracil,Fluorouracil	,,
+1	36933434	36933434	G	A	3094777	T618I	THR618ILE	Missense Variant	208339	1441	CSF3R	NP_724781.1:p.Thr618Ile, NM_156039.3:c.1853C>T, ENST00000373103.1:c.1853G>A, NC_000001.10:g.36933434G>A, NC_000001.11:g.36467833G>A		CSF3R	CD114, CSF3R, GCSFR, SCN7		1441		CSF3R T618I		14.0																					EID9072,EID6381,EID6380	Tarlock et al. (2020) report the incidence of CSF3R mutations in a large cohort of pediatric AML; CSF3R mutations almost always cooccured mutually exclusively with either CEBPA variants or t(8;21). The study demonstrated that CSF3R mutations had significant and variable prognostic effects when cooccurring with t(8;21) or CEBPA variants. Of note, those who carried CEBPA variants (CEBPA+) with a CSF3R variant (dual CSF3R+/CEBPA+) patients experienced poor outcomes with chemotherapy ((n = 12), EFS of 25% ± 25% for CSF3R+/CEBPA+ vs. (n= 18), 83% ± 18% for CSF3R+/t(8;21) patients (P < .001)) and very high relapse rates ((n = 12), RR of 75% ± 28% for CSF3R+/CEBPA+ vs. (n =13), 15% ± 21% forCSF3R+/t(8;21) (P = .003)). The CSF3R+/CEBPA+ patients had significantly higher RR and inferior EFS, OS was (n=12) 73% ± 26%, lower than that reported for the CSF3R+/t(8;21) patients with a reported OS of (n =18) 100% ± 0% (P = .026).|Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and constitutional symptoms.|Demonstrates that activating mutations in CSF3R are sufficient to drive a myeloproliferative disorder resembling aCML and CNL that is sensitive to pharmacologic JAK inhibition.	Acute Myeloid Leukemia,Chronic Neutrophilic Leukemia,Chronic Neutrophilic Leukemia	B,C,D	SUPPORTS,SUPPORTS,SUPPORTS	PROGNOSTIC,PREDICTIVE,PREDICTIVE	,,	4,4,4	POOR_OUTCOME,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE	PubMed: Tarlock et al., 2020|PubMed: Dao et al., 2014|PubMed: Fleischman et al., 2013	submitted,accepted,accepted	,Ruxolitinib,Ruxolitinib	,,
+1	115256528	115256528	T	G	1722183	Q61H	RS121913255, GLN61HIS	Missense Variant	375871	4893	NRAS	NM_002524.4:c.183A>C, NP_002515.1:p.Gln61His, NC_000001.10:g.115256528T>G, ENST00000369535.4:c.183A>C		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61H		5.0																					EID7333,EID2172,EID2173,EID2175,EID2176,EID3823,EID3690,EID2171,EID2174,EID7332	The researchers quantified ctDNA in time-intervals during the treatment of 6 patients with stage IV melanoma. The patient carrying the NRAS Q61H mutation was started on ipilimumab and responded well. As seen in figure 4, treatment led to a significant reduction in tumor burden, falling RECIST scores, and a rapid (86%) decline in ctDNA levels which correlates to a positive treatment response.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|In chemotherapy-resistant colorectal cancer patients treated with cetuximab-based therapy, NRAS mutations were associated with a lower objective response (7.7% vs. 38.1%, odds ratio (OR):0.14, 95% CI:0.007-0.70, P=0.013, univariate analysis; OR: 0.105, 95% CI:0.0056-0.582, P=0.0065, multivariate analysis) compared to wildtype NRAS patients. Patients with NRAS mutations but no KRAS mutations experienced reduced overall survival (HR:1.98, 95% CI:1.08-3.62, P=0.042, multivariate analysis).|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|In chemotherapy-resistant colorectal cancer patients treated with cetuximab-based therapy, NRAS mutations were associated with a lower objective response (7.7% vs. 38.1%, odds ratio (OR):0.14, 95% CI:0.007-0.70, P=0.013, univariate analysis; OR: 0.105, 95% CI:0.0056-0.582, P=0.0065, multivariate analysis) compared to wildtype NRAS patients. Patients with NRAS mutations but no KRAS mutations experienced reduced overall survival (HR:1.98, 95% CI:1.08-3.62, P=0.042, multivariate analysis).|In a retrospective study of 368 chemotherapy-refractory metastatic colorectal cancer, patients with a NRAS mutation (n=13) treated with cetuximab in combination with standard chemotherapy were associated with a lower response rate  (7.7%  vs 38.1% , OR: 0.14, 95% CI: 0.007-0.70, P=0.013) as compared to patients with wild-type NRAS (n=289).|One patient participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had a tumor which harbored NRAS Q61H was wildtype for KRAS, BRAF and PIK3CA. This patient was was a 73 year old male treated with cetuximab and irinotecan as 4th line therapy who experienced progressive disease and had PFS of 10 weeks and OS of 36 weeks.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|Mice that carried the Q61H variant had Malignant Pleural Mesothelioma and Lewis Lung Carincoma. The malignant cells where taken and each cell line was shown to readily promote lung colonization compared to NRAS WT cells. The NRAS variants drove lung metastasis via interaction with lung endothelial (CXCR1) and myeloid (CXCR2) receptors, which were required for colonization. However, the receptors were not required for tumor growth.	Melanoma,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Malignant Pleural Mesothelioma	B,C,C,C,C,C,C,D,D,D	SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,DIAGNOSTIC	,,,,,,,,,	4,,,,,,2,,,3	SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,POSITIVE	PubMed: Tsao et al., 2015|PubMed: Schubbert et al., 2007|PubMed: De Roock et al., 2010|PubMed: Schubbert et al., 2007|PubMed: De Roock et al., 2010|PubMed: De Roock et al., 2010|PubMed: De Roock et al., 2010|PubMed: Migliardi et al., 2012|PubMed: Migliardi et al., 2012|PubMed: Giannou et al., 2017	submitted,rejected,rejected,rejected,rejected,rejected,accepted,submitted,submitted,submitted	Ipilimumab,Dactolisib,Dactolisib,Selumetinib,Selumetinib,Cetuximab,Cetuximab+Irinotecan,Dactolisib,Selumetinib,	,,,,,,COMBINATION,,,
+1	115256529	115256529	T	A	6124658	Q61L	GLN61LEU, RS11554290	Missense Variant	375874	4893	NRAS	NP_002515.1:p.Gln61Leu, NC_000001.10:g.115256529T>A, NM_002524.4:c.182A>T, ENST00000369535.4:c.182A>T		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61L	NRAS Q61 mutations have been found in multiple myeloma, gastrointestinal stromal tumors, melanoma, and others. A melanoma patient harboring a mutation at this locus responded to treatment with the akylating agent temozolomide. However, in colorectal cancer patients, mutations at this locus have been shown to confer resistance to cetuximab. The prognostic impact of mutations at this locus is currently under study.	12.5																					EID2179,EID2182,EID3825,EID2181,EID22,EID2177,EID2180,EID3826,EID3018	NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|In a retrospective study of 44 malignant melanoma patients, NRAS Q61L was associated with acquired resistance to vemurafenib monotherapy in one patient with disease progressive tumors harboring NRAS Q61L and BRAF V600E (a known sensitizing mutation to vemurafenib) co-mutations, but no other genetic alterations.|Two patients participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had tumors which harbored NRAS Q61L and were wildtype for KRAS, BRAF and PIK3CA. Both patients experienced stable disease, which the authors classified as non-response. The two patients whose tumors harbored NRAS Q61L included a 53 year old female treated with cetuximab and irinotecan as a 6th line treatment who had PFS of 12 weeks and OS of 25 weeks; and a 64 year old female treated with cetuximab and ironotecan as a 3rd line therapy who had PFS of 12 weeks and OS of 46 weeks.|In a melanoma patient with NRAS Q61L mutation, treatment with temozolomide resulted in disease free survival of 14 months.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In an in vitro study, the YULOVY and YUFULO cell lines expressing NRAS Q61L were associated with reduced sensitivity to vemurafenib (PLX4032) treatment, as compared to cells expressing wild-type BRAF. Resistance was determined by assessing cellular proliferation.|Of the 4,562 patients with lung cancers, 30 showed NRAS mutations, which corresponded to 9 different amino acid substitutions. Cell lines were developed for 6 of these mutations and 5/6 were sensitivity to MEK inhibitors selumetinib and trametinib.  One of the cell lines was Q61L, two of the cel lines were Q61R, and three of the cell lines were Q61K.	Colorectal Cancer,Colorectal Cancer,Melanoma,Colorectal Cancer,Melanoma,Colorectal Cancer,Colorectal Cancer,Melanoma,Lung Non-small Cell Carcinoma	C,C,C,C,C,D,D,D,D	SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE	,,,,,,,,	,,,3,2,,,,2	SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,SENSITIVITYRESPONSE	PubMed: Schubbert et al., 2007|PubMed: Schubbert et al., 2007|PubMed: Shi et al., 2014|PubMed: De Roock et al., 2010|PubMed: Soon et al., 2011|PubMed: Migliardi et al., 2012|PubMed: Migliardi et al., 2012|PubMed: Halaban et al., 2010|PubMed: Ohashi et al., 2013	rejected,rejected,submitted,accepted,accepted,submitted,submitted,submitted,submitted	Dactolisib,Selumetinib,Vemurafenib,Cetuximab+Irinotecan,Temozolomide,Dactolisib,Selumetinib,Vemurafenib,Trametinib+Selumetinib	,,,COMBINATION,,,,,SUBSTITUTES
+1	115256529	115256529	T	C	5697943	Q61R	GLN61ARG, RS11554290	Missense Variant	13900	4893	NRAS	NM_002524.4:c.182A>G, NP_002515.1:p.Gln61Arg, NC_000001.10:g.115256529T>C, ENST00000369535.4:c.182A>G		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61R	NRAS Q61 mutations have been found in multiple myeloma, gastrointestinal stromal tumors, melanoma, and others. A melanoma patient harboring a mutation at this locus responded to treatment with the akylating agent temozolomide. However, in colorectal cancer patients, mutations at this locus have been shown to confer resistance to cetuximab. The prognostic impact of mutations at this locus is currently under study.	10.0																					EID2185,EID2188,EID3829,EID23,EID2184,EID2186,EID3828,EID3830,EID3831,EID3019	NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|In a retrospective study of 44 malignant melanoma patients, NRAS Q61R was associated with acquired resistance to vemurafenib monotherapy in three patients with disease progressive tumors harboring NRAS Q61R and BRAF V600E (a known sensitizing mutation to vemurafenib) co-mutations, but no other genetic alterations.|In a melanoma patient with Q61R mutation, treatment with temozolomide resulted in overall survival of 16 months.|Five patients participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had tumors which harbored NRAS Q61R and were wildtype for KRAS, BRAF and PIK3CA. Overall, one patient experienced stable disease, and the other four experienced progressive disease.The five patients whose tumors harbored NRAS Q61R included a 65 year old male treated with cetuximab monotherapy as a 3rd line treatment who experienced progressive disease and had PFS of 6 weeks and OS of 41 weeks; a 47 year old female treated with cetuximab and ironotecan as a 5th line therapy who experienced progressive disease and had PFS of 4 weeks and OS of 10 weeks; a 60 year old female treated with cetuximab and ironotecan as a 3rd line therapy who experienced stable disease and had PFS of 24 weeks and OS of 38 weeks; a 47 year old female treated with cetuximab and ironotecan as a 3rd line therapy who experienced progressive disease and had PFS of 14 weeks and OS of 18 weeks; and a 77 year old male treated with cetuximab monotherapy as a 1st line therapy who experienced progressive disease and had PFS of 7 weeks and OS of 67 weeks.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In an in vitro study of single-cell clones derived from a cutaneous melanoma patient expressing a BRAF V600E mutation (a known sensitizing mutation to vemurafenib) and NRAS Q61R co-mutations, NRAS Q61R mutation was associated with resistance to vemurafenib treatment (IC50: >1000 nmol/L). Resistance was determined by assessing cell viability.|In an in vitro study, a HTH7 cell line expressing NRAS Q61R demonstrated reduced sensitivity to vemurafenib treatment, compared to BRAF V600E expressing cells (8505C, SWI1736, BHT101 and BCPAP). Sensitivity was determined by assessing cell proliferation (HTH7, EC50: greater or equal to 1000nM vs. 8505C, EC50: 57nM; SWI1736, EC50: 29nM; BHT101, EC50: 97nM; BCPAP, EC50: 78nM), and MAPK1 and MAP2K1 phosphorylation.|Of the 4,562 patients with lung cancers, 30 showed NRAS mutations, which corresponded to 9 different amino acid substitutions. Cell lines were developed for 6 of these mutations and 5/6 were sensitivity to MEK inhibitors selumetinib and trametinib.  One of the cell lines was Q61L, two of the cell lines were Q61R, and three of the cell lines were Q61K.	Colorectal Cancer,Colorectal Cancer,Melanoma,Melanoma,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Skin Melanoma,Thyroid Gland Carcinoma,Lung Non-small Cell Carcinoma	C,C,C,C,C,D,D,D,D,D	SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE	,,,,,,,,,	,,,2,2,,,,,2	SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,SENSITIVITYRESPONSE,RESISTANCE,SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE,RESISTANCE,SENSITIVITYRESPONSE	PubMed: Schubbert et al., 2007|PubMed: Schubbert et al., 2007|PubMed: Shi et al., 2014|PubMed: Soon et al., 2011|PubMed: De Roock et al., 2010|PubMed: Migliardi et al., 2012|PubMed: Migliardi et al., 2012|PubMed: Romano et al., 2013|PubMed: Salerno et al., 2010|PubMed: Ohashi et al., 2013	rejected,rejected,submitted,accepted,accepted,submitted,submitted,submitted,submitted,submitted	Selumetinib,Dactolisib,Vemurafenib,Temozolomide,Cetuximab,Dactolisib,Cetuximab,Vemurafenib,Vemurafenib,Trametinib+Selumetinib	,,,,,,,,,SUBSTITUTES
+1	115256530	115256530	G	T	5972779	Q61K	GLN61LYS, RS121913254	Missense Variant	73058	4893	NRAS	NM_002524.4:c.181C>A, NP_002515.1:p.Gln61Lys, NC_000001.10:g.115256530G>T, ENST00000369535.4:c.181C>A		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS Q61K		24.5																					EID2194,EID3833,EID7678,EID2190,EID2195,EID3835,EID2191,EID2189,EID8933,EID2196,EID3834,EID3836,EID3837,EID3838,EID3839,EID7169,EID7172,EID1002,EID2192,EID2908,EID1474,EID1475,EID2907	"In 11 melanoma patients harboring BRAF mutations, one patient with a Q61K NRAS mutation acquired resistance to the BRAF inhibitor vemurafenib. Q61K and/or A146T NRAS  mutations have also shown resistance to BRAF inhibitors in vitro. However, the combination of BRAF and MEK inhibitors have successfully hindered cell growth in cell lines with these mutations.|In 11 melanoma patients harboring BRAF mutations, one patient with a Q61K NRAS mutation acquired resistance to the BRAF inhibitor vemurafenib. Q61K and/or A146T NRAS  mutations have also shown resistance to BRAF inhibitors in vitro. However, the combination of BRAF and MEK inhibitors have successfully hindered cell growth in cell lines with these mutations.|In a retrospective study, authors analyzed BRAF V600 mutated melanoma metastases derived from 10 patients treated with the combination of dabrafenib and trametinib for resistance mechanisms and genetic correlates of response.
+An acquired resistance mechanism activating the MAPK pathway was identified in 9 tumors; BRAF amplification (n=4), MEK1/2 mutation (n=3), NRAS mutations (n=3). Among them, mutual exclusive alterations were BRAF amplification (n=4), MEK2 C125S (n=1), and NRAS Q61K (n=2).|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|In a retrospective study of 44 malignant melanoma patients, NRAS Q61K was associated with acquired resistance to vemurafenib monotherapy in two patients with disease progressive tumors harboring NRAS Q61K and BRAF V600E (a known sensitizing mutation to vemurafenib) co-mutations, but no other genetic alterations.|In 11 melanoma patients harboring BRAF mutations, one patient with a Q61K NRAS mutation acquired resistance to the BRAF inhibitor vemurafenib. Q61K and/or A146T NRAS mutations have also shown resistance to BRAF inhibitors in vitro. However, the combination of BRAF and MEK inhibitors have successfully hindered cell growth in cell lines with these mutations.|Four patients participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had tumors which harbored NRAS Q61K and were wildtype for KRAS, BRAF and PIK3CA. One patient experienced partial response and three patients experienced progressive disease. The four patients whose tumors harbored NRAS Q61K included an 80 year old male treated with cetuximab and irinotecan as a 3rd line treatment who experienced progressive disease and had PFS of 6 weeks and OS of 43 weeks; a 51 year old male treated with cetuximab and ironotecan as a 3rd line therapy who experienced a partial response and had PFS of 24 weeks and OS of 54 weeks; a 64 year old male treated with cetuximab and ironotecan as a 5th line therapy who experienced progressive disease and had PFS of 8 weeks and OS of 33 weeks; and a 65 year old female treated with cetuximab, oxaliplatin and 5FU as a 2nd line therapy who experienced progressive disease and had PFS of 31 weeks and OS of 50 weeks.|One 56 year old female with advanced recurrent low grade serous ovarian cancer with NRAS Q61K mutation had a partial response to trametinib, with short follow-up.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In an in vitro study, a M249 cell line expressing BRAF V600E (a known sensitizing mutation to vemurafenib) and NRAS Q61K co-mutations, demonstrated resistance to vemurafenib treatment (GI50: > 10 �mol/L) compared to parental M249 cells expressing BRAF V600E and wild-type NRAS. Resistance was determined by assessing cell viability and phosphorylation of MAP2K1/2 and MAPK3/1.|In an in vitro study, a M249 R4 cell line expressing BRAF V600E (a known sensitizing mutation to vemurafenib) and NRAS Q61K co-mutations demonstrated acquired resistance to vemurafenib treatment. Resistance was determined by assessing cell survival.|In an in vitro study of single-cell clones derived from a cutaneous melanoma patient expressing a BRAF V600E mutation (a known sensitizing mutation to vemurafenib) and NRAS Q61K co-mutations, NRAS Q61K mutation was associated with resistance to vemurafenib treatment (IC50: >1000 nmol/L). Resistance was determined by assessing cell viability.|In an in vitro study, a PC-9 cell line expressing NRAS Q61K mutation demonstrated decreased sensitivity to erlotinib treatment compared to PC-9 cells expressing NRAS wild-type. Sensitivity was determined by performing cell growth-inhibition assays.|Established a novel mouse model for melanoma that shows for the first time that over expression of a mutant form of human N-ras (N-RasQ61K) in melanocytes results in a hyper pigmented skin phenotype and increases the formation of melanoma lesions and favors the acquisition of a metastatic behavior on an INK4a background.|Recent studies in mouse have also shown that NRAS Q61K is capable of promoting melanoma formation and cooperates with INK4A loss to accelerate tumor onset.|In-vitro study in 5 neuroblastoma cell lines (2 with NRAS Q61K mutation). The combination of mTOR and MEK Inhibitors synergistically blocked cell growth in NRAS mutant but not wild type cell lines. Single agent MEK inhibition (AZD6244/selumetinib, MEK162 or PD0325901) and single agent mTOR inhibition (Everolimus or AZD8055) also blocked cell growth in NRAS mutant cell lines, whereas single agent PI3K inhibitors or MEK Inhibitors in combination with PIK3CA/AKT inhibitors did not show synergistic effects.|In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring mutations in KRAS, NRAS, BRAF, or PIK3CA and implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone. NRAS mutations were in 4/40 tumors (three Q61K, one G12D).|NRAS mutations define a distinct subset of lung cancers (∼1%) with potential sensitivity to MEK inhibitors. Although NRAS mutations are more common in current/former smokers, the types of mutations are not those classically associated with smoking.|Preclinical study in melanoma cell lines. NRAS Q61K, in addition to the BRAF V600E mutation was associated with resistance to vemurafenib but sensitivity to AZD6244 (selumetinib) in vitro in the acquired resistant cell line M249-AR4 and in the patient-derived acquired resistant cell line M376.|Preclinical study in melanoma cell lines. NRAS Q61K, in addition to the BRAF V600E mutation was associated with resistance to vemurafenib but sensitivity to AZD6244 (selumetinib) in vitro in the acquired resistant cell line M249-AR4 and in the patient-derived acquired resistant cell line M376.|Of the 4,562 patients with lung cancers, 30 showed NRAS mutations, which corresponded to 9 different amino acid substitutions. Cell lines were developed for 6 of these mutations (one harboring Q61L, two Q61R, and three Q61K mutations) and 5/6 were sensitive to MEK inhibitors selumetinib and trametinib. One Q61K line was not sensitive to these inhibitors."	Colorectal Cancer,Colorectal Cancer,Melanoma,Colorectal Cancer,Colorectal Cancer,Melanoma,Melanoma,Colorectal Cancer,Ovary Serous Adenocarcinoma,Colorectal Cancer,Colorectal Cancer,Melanoma,Melanoma,Skin Melanoma,Lung Non-small Cell Carcinoma,Melanoma,Melanoma,Neuroblastoma,Colorectal Cancer,Lung Cancer,Skin Melanoma,Skin Melanoma,Lung Non-small Cell Carcinoma	B,B,B,C,C,C,C,C,C,D,D,D,D,D,D,D,D,D,D,D,D,D,D	SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDISPOSING,PREDISPOSING,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE	,,,,,,,,,,,,,,,,,,,,,,	,,4,,,,4,3,2,,,,,,,4,4,3,3,3,2,2,2	SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE,RESISTANCE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE,RESISTANCE,RESISTANCE,RESISTANCE,LIKELY_PATHOGENIC,LIKELY_PATHOGENIC,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE	PubMed: Nazarian et al., 2010|PubMed: Nazarian et al., 2010|PubMed: Long et al., 2014|PubMed: Schubbert et al., 2007|PubMed: Schubbert et al., 2007|PubMed: Shi et al., 2014|PubMed: Nazarian et al., 2010|PubMed: De Roock et al., 2010|PubMed: Champer et al., 2019|PubMed: Migliardi et al., 2012|PubMed: Migliardi et al., 2012|PubMed: Nazarian et al., 2010|PubMed: Shi et al., 2012|PubMed: Romano et al., 2013|PubMed: Ohashi et al., 2012|PubMed: Ackermann et al., 2005|PubMed: Dovey et al., 2009|PubMed: Kiessling et al., 2016|PubMed: Migliardi et al., 2012|PubMed: Ohashi et al., 2013|PubMed: Atefi et al., 2011|PubMed: Atefi et al., 2011|PubMed: Ohashi et al., 2013	submitted,submitted,submitted,rejected,rejected,submitted,submitted,accepted,accepted,submitted,submitted,submitted,submitted,submitted,submitted,submitted,submitted,accepted,accepted,rejected,accepted,accepted,accepted	Dactolisib,Cetuximab,Dabrafenib+Trametinib,Selumetinib,Dactolisib,Vemurafenib,Vemurafenib,Cetuximab+Chemotherapy,Trametinib,Dactolisib,Cetuximab,Vemurafenib,Vemurafenib,Vemurafenib,Erlotinib,,,Everolimus+Binimetinib,Dactolisib+Selumetinib,Trametinib+Selumetinib,Vemurafenib,Selumetinib,Trametinib+Selumetinib	,,COMBINATION,,,,,COMBINATION,,,,,,,,,,COMBINATION,COMBINATION,,,,SUBSTITUTES
+1	115258744	115258744	C	T	6207786	G13D	GLY13ASP, RS121434596	Missense Variant	13901	4893	NRAS	NM_002524.4:c.38G>A, NP_002515.1:p.Gly13Asp, NC_000001.10:g.115258744C>T, ENST00000369535.4:c.38G>A		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G13D	While the NRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still debated.	5.0																					EID21,EID3840	Likely due to increased reliance of mutant NRAS on HSP90 for stabilization, inhibition of HSP90 by 17-AAG was shown to be effective in a patient with metastatic malignant melanoma with an NRAS G13D mutation.|In an in vitro study, an OXCO-2 cell line expressing NRAS G13D mutation demonstrated acquired resistance after low level cetuximab exposure compared to OXCO-2 parental cells expressing NRAS wild-type. Sensitivity was determined by assessing cell viability.	Melanoma,Colorectal Cancer	C,D	SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE	,	2,	SENSITIVITYRESPONSE,RESISTANCE	PubMed: Banerji et al., 2008|PubMed: Misale et al., 2014	accepted,submitted	Tanespimycin,Cetuximab	,
+1	115258745	115258745	C	A	8610247	G13C	RS121434595, GLY13CYS	Missense Variant	40471	4893	NRAS	NM_002524.4:c.37G>T, NP_002515.1:p.Gly13Cys, NC_000001.10:g.115258745C>A, ENST00000369535.4:c.37G>T		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G13C		0.0																					EID2199,EID2202,EID2197,EID2200	NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.	Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer	C,C,D,D	SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE	,,,	,,,	SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE	PubMed: Schubbert et al., 2007|PubMed: Schubbert et al., 2007|PubMed: Migliardi et al., 2012|PubMed: Migliardi et al., 2012	rejected,rejected,submitted,submitted	Dactolisib,Selumetinib,Dactolisib,Selumetinib	,,,
+1	115258745	115258745	C	G	4068622	G13R	RS121434595, GLY13ARG	Missense Variant	13899	4893	NRAS	NM_002524.4:c.37G>C, NP_002515.1:p.Gly13Arg, NC_000001.10:g.115258745C>G, ENST00000369535.4:c.37G>C		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G13R		5.0																					EID2205,EID2208,EID3843,EID3844,EID2204,EID3842,EID2203	NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|In a retrospective study of 30 metastatic melanoma patients, a patient harboring NRAS G13R mutation was reported to be resistant to vemurafenib treatment. The patient was initially found to harbor a BRAF V600E mutation (a known vemurafenib sensitizing mutation) and had achieved a partial response with vemurafenib monotherapy prior to acquiring resistance.|In a retrospective study of 44 malignant melanoma patients, NRAS G13R was associated with acquired resistance to vemurafenib monotherapy in one patient with disease progressive tumors harboring NRAS G13R and BRAF V600E (a known sensitizing mutation to vemurafenib) co-mutations, but no other genetic alterations.|One patient participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had a tumor which harbored NRAS G13R, was wildtype for KRAS, BRAF and PIK3CA, and had individual response data. This patient was was a 68 year old male treated with cetuximab + irinotecan as 3rd line therapy who experienced stable disease (PFS: 18 weeks; OS: 34 weeks). Authors considered stable disease as both clinical benefit and non response.|One patient participating in a large retrospective study of cetuximab in metastatic, treatment refractory colorectal cancer had a tumor which harbored NRAS G13R, was wildtype for KRAS, BRAF and PIK3CA, and had individual response data. This patient was was a 50 year old male treated with panitumumab monotherapy as 3rd line therapy (discontinued for toxic/biochemical reasons) who experienced stable disease (PFS: 22 weeks; OS: 74 weeks). Authors considered stable disease as both clinical benefit and non-response|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.	Colorectal Cancer,Colorectal Cancer,Melanoma,Melanoma,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer	C,C,C,C,C,C,D	SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE	,,,,,,	,,,,1,1,	SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE,RESISTANCE,RESISTANCE,SENSITIVITYRESPONSE	PubMed: Schubbert et al., 2007|PubMed: Schubbert et al., 2007|PubMed: Rizos et al., 2014|PubMed: Shi et al., 2014|PubMed: De Roock et al., 2010|PubMed: De Roock et al., 2010|PubMed: Migliardi et al., 2012	rejected,rejected,submitted,submitted,accepted,accepted,submitted	Dactolisib,Selumetinib,Vemurafenib,Vemurafenib,Cetuximab+Irinotecan,Panitumumab,Dactolisib	,,,,COMBINATION,,
+1	115258747	115258747	C	A	3068176	G12V	RS121913237	Missense Variant	40470	4893	NRAS	NM_002524.4:c.35G>T, NP_002515.1:p.Gly12Val, NC_000001.10:g.115258747C>A, ENST00000369535.4:c.35G>T		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G12V		0.0																					EID4465	In an in vitro study, a DiFi colorectal cancer cell line stably expressing NRAS G12V mutation demonstrated resistance to cetuximab treatment compared to DiFi cells expressing wild-type NRAS. Resistance was determined by assessing clonogenic survival.	Colorectal Cancer	D	SUPPORTS	PREDICTIVE			RESISTANCE	PubMed: Kasper et al., 2013	submitted	Cetuximab	
+1	115258747	115258747	C	T	8858113	G12D	RS121913237, GLY12ASP	Missense Variant	39648	4893	NRAS	NM_002524.4:c.35G>A, NP_002515.1:p.Gly12Asp, NC_000001.10:g.115258747C>T, ENST00000369535.4:c.35G>A		NRAS	ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS, NRAS1, NS6	Mutations in the RAS family of proteins have frequently been observed across cancer types. The amino acid positions G12, G13 and Q61 account for the overwhelming majority of these mutations. The isoforms, despite their raw similarity, also behave very differently when expressed in non-native tissue types, likely due to differences in the C-terminal hyper-variable regions. Mis-regulation of isoform expression has been shown to be a driving event in cancer, as well as missense mutations at the three hotspots previously mentioned. While highly recurrent in cancer, targeting these RAS mutants has also been very elusive, and has not yet become common practice in the clinic.	4893		NRAS G12D		7.5																					EID3693,EID2000,EID2003,EID2002,EID1998,EID3691,EID3692	In a retrospective study of 148 treatment naive metastatic colorectal cancer patients, patients with RAS mutations (n=10), including KRAS A146T, KRAS G13D, NRAS G12D and NRAS Q179*, treated with FOLFOX4 plus cetuximab were associated with decreased overall survival (16.3mo vs. 28.5mo, HR:0.43, 95% CI:0.20-0.89, P=0.020) and decreased progression free survival (7.2mo vs. 9.7mo, HR:0.56, 95% CI:0.27-1.16, P=0.11), as compared to patients with wild-type KRAS and NRAS.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|NRAS mutations have also been observed in melanoma and biliary tract, bladder, cervix, liver, lung, myeloid leukemia, ovarian, pancreatic, and thyroid cancer.|One patient participating in a large retrospective trial of cetuximab in metastatic, treatment refractory colorectal cancer had a tumor which harbored NRAS G12D and was wild type for KRAS, PIK3CA, and BRAF. This patient was a 64 year old male treated with cetuximab and irinotecan as 5th line therapy who experienced stable disease and had PFS of 64 weeks and OS of 84 weeks.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.|In an in vitro study, an OXCO-2 cell line expressing NRAS G12D mutation demonstrated acquired resistance after low level cetuximab exposure compared to OXCO-2 parental cells expressing NRAS wild-type. Sensitivity was determined by assessing cell viability.|In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combination of the MEK inhibitor AZD6244 and the PI3K/mTor inhibitor BEZ235 resulted in disease stabilization. Mean tumor growth was lower in the tumors treated with AZD6244+ BEZ235 (+77% vs. +267%, P=1E-6) compared to AZD6244 alone and (+77% vs. +222%, P=0.0014) BEZ235 alone.	Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer,Colorectal Cancer	B,C,C,C,D,D,D	SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS,SUPPORTS	PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE,PREDICTIVE	,,,,,,	,,,3,,,	RESISTANCE,SENSITIVITYRESPONSE,SENSITIVITYRESPONSE,RESISTANCE,SENSITIVITYRESPONSE,RESISTANCE,RESISTANCE	PubMed: Kaczirek et al., 2015|PubMed: Schubbert et al., 2007|PubMed: Schubbert et al., 2007|PubMed: De Roock et al., 2010|PubMed: Migliardi et al., 2012|PubMed: Misale et al., 2014|PubMed: Migliardi et al., 2012	accepted,rejected,rejected,accepted,submitted,submitted,submitted	Cetuximab,Dactolisib,Selumetinib,Cetuximab+Irinotecan,Dactolisib,Cetuximab,Cetuximab	,,,COMBINATION,,,
diff --git a/example_files/civic_test_out/metadata.txt b/example_files/civic_test_out/metadata.txt
index fc170d5..5eb359d 100644
--- a/example_files/civic_test_out/metadata.txt
+++ b/example_files/civic_test_out/metadata.txt
@@ -1,6 +1,6 @@
-CIViC query date: 2023-05-30
+CIViC query date: 2024-09-09
 CIViCpy version: 3.0.0
 Search mode: exact
 Reference genome: GRCh37
 Filtered out synonymous & low impact variants based on VEP annotation
-Input File: /Users/students/Documents/work_dir/querynator/example_files/example.vcf
\ No newline at end of file
+Input File: /home-link/zxmgc83/querynator/example_files/example.vcf
\ No newline at end of file
diff --git a/example_files/civic_test_out/vcf_files/civic_test_out.filtered_variants.vcf b/example_files/civic_test_out/vcf_files/civic_test_out.filtered_variants.vcf
index af4f458..bea0de7 100644
--- a/example_files/civic_test_out/vcf_files/civic_test_out.filtered_variants.vcf
+++ b/example_files/civic_test_out/vcf_files/civic_test_out.filtered_variants.vcf
@@ -8,93 +8,93 @@
 ##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|FLAGS|VARIANT_CLASS|SYMBOL_SOURCE|HGNC_ID|CANONICAL|MANE_SELECT|MANE_PLUS_CLINICAL|TSL|APPRIS|CCDS|ENSP|SWISSPROT|TREMBL|UNIPARC|UNIPROT_ISOFORM|GENE_PHENO|SIFT|PolyPhen|DOMAINS|miRNA|AF|AFR_AF|AMR_AF|EAS_AF|EUR_AF|SAS_AF|AA_AF|EA_AF|gnomAD_AF|gnomAD_AFR_AF|gnomAD_AMR_AF|gnomAD_ASJ_AF|gnomAD_EAS_AF|gnomAD_FIN_AF|gnomAD_NFE_AF|gnomAD_OTH_AF|gnomAD_SAS_AF|MAX_AF|MAX_AF_POPS|FREQS|CLIN_SIG|SOMATIC|PHENO|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS">
 ##INFO=<ID=QID,Number=.,Type=String,Description="Querynator ID">
 #CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
-1	11169361	.	C	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7471426
-1	11169375	.	A	C	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6977019
-1	11169377	.	T	A	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9270899
-1	11174420	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6016378
-1	11182179	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7742149
-1	11184573	.	G	A	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8430932
-1	11184573	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=4454314
-1	11184574	.	A	T	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6145484
-1	11184580	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7962649
-1	11187094	.	G	T	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=4231866
-1	11187857	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=3041185
-1	11188519	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1437984
-1	11217229	.	G	C	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8537967
-1	11217230	.	C	A	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2837772
-1	11217230	.	C	T	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1568206
-1	11217231	.	A	G	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5749613
-1	11217299	.	A	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7256876
-1	11856378	.	G	A	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=3099550
-1	16458722	.	C	T	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=1023724
-1	16464489	.	C	G	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=9694369
-1	16464489	.	C	T	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=9039863
-1	23235518	.	G	A	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5111242
-1	36933434	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=1843490
-1	36933444	.	T	C	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=7601092
-1	43814978	.	A	T	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=8596770
-1	43814979	.	G	A	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=1249634
-1	43815009	.	G	T	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=1748987
-1	65312347	.	C	A	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=2943511
-1	65312382	.	G	A	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=4667166
-1	65312418	.	G	T	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=4741743
-1	115256528	.	T	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5307369
-1	115256528	.	T	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8103256
-1	115256528	.	TT	CA	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=6322980
-1	115256528	.	TT	CC	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=9938830
-1	115256529	.	T	A	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4234228
-1	115256529	.	T	C	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2952738
-1	115256529	.	TG	CT	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=5528543
-1	115256529	.	T	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9729328
-1	115256530	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8702958
-1	115256530	.	G	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8769993
-1	115256530	.	G	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1787986
-1	115258730	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1649110
-1	115258744	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3724085
-1	115258744	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5287325
-1	115258744	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5465086
-1	115258745	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4337967
-1	115258745	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7718445
-1	115258745	.	C	T	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8562107
-1	115258747	.	C	A	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5160928
-1	115258747	.	C	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1756127
-1	115258747	.	C	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7082271
-7	55221821	.	GC	AA	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=9008057
-7	55221822	.	C	A	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8672053
-9	80409488	.	T	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3544386
-9	80409488	.	TG	AA	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=2247412
-10	43609077	.	CTTCCCTGAGGAGGAGAAGTGCTTCTGC	C	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=5007181
-11	534289	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=3870484
-11	8457665	.	A	C	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=9183020
-11	32417908	.	C	CACCGTACA	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=4409274
-11	65830499	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=7429539
-11	65830884	.	A	G	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1425686
-11	67352689	.	A	G	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=5212851
-11	108218044	.	A	C	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=6461551
-13	48955550	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6953377
-13	49027168	.	C	T	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=9275585
-13	49037877	.	G	T	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=5621194
-13	49039164	.	G	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=3266565
-14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=1783186
-14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=9210916
-14	105246551	.	C	T	.	.	DISEASE=breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma;PMID=23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||;QID=3230540
-14	105246551	.	C	T	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=3149839
-16	3788617	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=7926910
-16	3788618	.	G	A	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=3506786
-16	3788618	.	G	C	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2113036
-16	69745145	.	G	A	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=5881134
-16	81946260	.	C	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=6361049
-16	81962183	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=5731517
-16	81962183	.	A	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=3018682
-17	7577022	.	G	A	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=3968765
-17	7577081	.	T	A	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8778489
-17	7577081	.	T	C	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=3667906
-17	7577081	.	T	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=9093916
-17	7577082	.	C	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=5912627
-18	48604787	.	G	T	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=3998155
-19	1207021	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=4085030
-20	57484421	.	G	T	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=6021448
-20	57484596	.	A	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=8476417
-21	36231783	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=2003124
-22	41565529	.	G	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=2663389
-X	100611164	.	C	G	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5533193
+1	11169361	.	C	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6053166
+1	11169375	.	A	C	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7385648
+1	11169377	.	T	A	.	.	DISEASE=uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,renal_clear_cell_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6873403
+1	11174420	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=2998329
+1	11182179	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24622468,24622468,24622468,24622468,24622468,24622468,24622468;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6107666
+1	11184573	.	G	A	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1029281
+1	11184573	.	G	T	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,renal_carcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=24631838,24631838,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24631838,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4782|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6414403
+1	11184574	.	A	T	.	.	DISEASE=colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,uterine_corpus_endometrial_carcinoma,skin_melanoma,cervix_carcinoma,papillary_renal_cell_carcinoma,renal_clear_cell_carcinoma,glioblastoma_multiforme;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs951621444|4781|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs951621444||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5373216
+1	11184580	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||4775|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9920047
+1	11187094	.	G	T	.	.	DISEASE=thyroid_carcinoma,thyroid_carcinoma;PMID=25295501,25295501;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||2261|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||;QID=7774031
+1	11187857	.	C	T	.	.	DISEASE=urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=24625776,24625776,24625776,24625776,24625776,24625776,24625776;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding|||||||||||1498|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=6478070
+1	11188519	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=26490311,26490311,26490311,26490311,26490311,26490311;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000919716|promoter_flanking_region||||||||||rs769607787||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|ANGPTL7|ENSG00000171819|Transcript|ENST00000376819|protein_coding||||||||||rs769607787|836|1||SNV|HGNC|HGNC:24078|YES|NM_021146.4||1|P1|CCDS128.1|ENSP00000366015|O43827.150||UPI0000035976|||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||28/57||||||||rs769607787||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1030844
+1	11217229	.	G	C	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=9400897
+1	11217230	.	C	A	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=1145875
+1	11217230	.	C	T	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=7812685
+1	11217231	.	A	G	.	.	DISEASE=renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer,renal_clear_cell_carcinoma,glioblastoma_multiforme,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=5953806
+1	11217299	.	A	G	.	.	DISEASE=renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma,renal_carcinoma;PMID=24631838,24631838,24631838,24631838,24631838,24631838,24631838;CSQ=G|intron_variant|MODIFIER|MTOR|ENSG00000198793|Transcript|ENST00000361445|protein_coding||19/57||||||||||-1||SNV|HGNC|HGNC:3942|YES|NM_004958.4||1|P1|CCDS127.1|ENSP00000354558|P42345.222||UPI000012ABD3||1|||||||||||||||||||||||||||||||||;QID=8794798
+1	11856378	.	G	A	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=18704422,18704422,18704422,18704422,18704422,18704422;CSQ=A|downstream_gene_variant|MODIFIER|NPPB|ENSG00000120937|Transcript|ENST00000376468|protein_coding|||||||||||1086|-1||SNV|HGNC|HGNC:7940|YES|NM_002521.3||1|P1|CCDS140.1|ENSP00000365651|P16860.200||UPI00000350A5|||||||||||||||||||||||||||||||||||;QID=4866096
+1	16458722	.	C	T	.	.	DISEASE=cortical_senile_cataract,cortical_senile_cataract,cortical_senile_cataract;PMID=19649315,19649315,19649315;CSQ=T|upstream_gene_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA|||||||||||2226|1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||7/7||||||||||1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=1409915
+1	16464489	.	C	G	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=G|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript|||||||||||2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding|||||||||||4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||;QID=3787948
+1	16464489	.	C	T	.	.	DISEASE=lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma,lung_squamous_cell_carcinoma;PMID=20360610,20360610,20360610,20360610,20360610,20360610,20360610;CSQ=T|downstream_gene_variant|MODIFIER|CROCCP3|ENSG00000080947|Transcript|ENST00000263511|processed_transcript||||||||||rs1173827986|2947|-1||SNV|HGNC|HGNC:29405||||1|||||||||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|NECAP2|ENSG00000157191|Transcript|ENST00000337132|protein_coding||||||||||rs1173827986|4411|1||SNV|HGNC|HGNC:25528|YES|NM_018090.5||1|P1|CCDS173.1|ENSP00000338746|Q9NVZ3.153||UPI000006F33F|Q9NVZ3-1||||||||||||||||||||||||||||||||||,T|intron_variant&non_coding_transcript_variant|MODIFIER|LINC01772|ENSG00000226029|Transcript|ENST00000457898|lncRNA||1/1||||||||rs1173827986||1||SNV|HGNC|HGNC:52562|YES|||2|||||||||||||||||||||||||||||||||||||||||;QID=4113186
+1	23235518	.	G	A	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=18682749,18682749,18682749;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5005615
+1	36933434	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia,acute_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23634996,23634996,23634996,23656643,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643,23634996,23656643;CSQ=A|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=3094777
+1	36933444	.	T	C	.	.	DISEASE=chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia,chronic_myeloid_leukemia;PMID=23656643,23656643,23656643,23656643,23656643,23656643,23656643;CSQ=C|intron_variant|MODIFIER|GRIK3|ENSG00000163873|Transcript|ENST00000373091|protein_coding||1/15||||||||||-1||SNV|HGNC|HGNC:4581|YES|NM_000831.4||1|P1|CCDS416.1|ENSP00000362183|Q13003.191||UPI000013E311|Q13003-1||||||||||||||||||||||||||||||||||;QID=5094077
+1	43814978	.	A	T	.	.	DISEASE=chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease;PMID=21228032,21228032,21228032,21228032,21228032,21228032,21228032,21228032;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=5663482
+1	43814979	.	G	A	.	.	DISEASE=hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,chronic_myeloproliferative_disease,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,hemorrhagic_thrombocythemia,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,chronic_myeloproliferative_disease,myelofibrosis,myelofibrosis;PMID=18451306,18528423,18451306,19608689,18528423,19608689,20151976,20151976,18451306,18451306,18528423,23970983,18528423,18528423,20151976,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,23970983,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18528423,19608689,18451306,20151976,18451306,18528423,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976,18451306,18528423,19608689,20151976,18451306,18528423,23970983,18528423,20151976;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=3569866
+1	43815009	.	G	T	.	.	DISEASE=hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer,hematologic_cancer;PMID=16834459,16834459,16834459,16834459,16834459,16834459,16834459;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000355698|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|ST3GAL3|ENSG00000126091|Transcript|ENST00000347631|protein_coding||4/11||||||||||1||SNV|HGNC|HGNC:10866|YES|NM_006279.5||5|P4|CCDS492.1|ENSP00000317192|Q11203.192||UPI000000D7A9|Q11203-1|1|||||||||||||||||||||||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000284989|Transcript|ENST00000645057|nonsense_mediated_decay||18/25||||||||||1||SNV|||YES||||P1||ENSP00000494063||A0A2R8Y4U1.10|UPI000D197852|||||||||||||||||||||||||||||||||||;QID=1618987
+1	65312347	.	C	A	.	.	DISEASE=polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,polycythemia_vera,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_leukemia,polycythemia_vera,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_leukemia;PMID=16239216,21436584,21680795,16239216,19139102,19470474,19838194,21680795,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,21680795,19139102,19470474,19838194,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102,16239216,21436584,21680795,19139102,16239216,21436584,21680795,19139102,19470474,19838194,21680795,19139102;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=6045410
+1	65312382	.	G	A	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=22955920,22955920,22955920,22955920,22955920,22955920,22955920;CSQ=A|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=1220581
+1	65312418	.	G	T	.	.	DISEASE=acute_lymphocytic_leukemia,acute_lymphocytic_leukemia,acute_lymphocytic_leukemia;PMID=20167706,20167706,20167706;CSQ=T|intron_variant|MODIFIER|DNAJC6|ENSG00000116675|Transcript|ENST00000371069|protein_coding||1/18||||||||||1||SNV|HGNC|HGNC:15469|YES|NM_001256864.2||1|P4|CCDS58004.1|ENSP00000360108|O75061.176||UPI000022AE8A|O75061-2|1|||||||||||||||||||||||||||||||||;QID=6896577
+1	115256528	.	T	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,19657110,8120410,16291983,18390968,20130576,20179705,22761467,23076151,23076151,19657110,23414587,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,23076151,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23076151,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,23076151,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=9731192
+1	115256528	.	T	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,19657110,23515407,23076151,23076151,19657110,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,23076151,25157968,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,23076151,25157968,23076151,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,19657110,25157968,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,23076151,19657110,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1722183
+1	115256528	.	TT	CA	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,20406486,25157968,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,20149136,20406486,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,20149136,20406486,25157968;CSQ=CA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=3180750
+1	115256528	.	TT	CC	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898;CSQ=CC|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=4823564
+1	115256529	.	T	A	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,12460918,18948947,23515407,20149136,20406486,20149136,20406486,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,20149136,25157968,20406486,25157968,20149136,20406486,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20149136,20406486,12460918,2674680,8120410,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,25157968,21576590,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16291983,18390968,18948947,20130576,20179705,22761467,23414587,23515407,23538902,23569304,23614898,20149136,20406486,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6124658
+1	115256529	.	T	C	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,2278970,23538902,23569304,23614898,3122217,16434492,19075190,22407852,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,2278970,3122217,16434492,19075190,22407852,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,25157968,21576590,23515407,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,16273091,2674680,8120410,12460918,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,2278970,3122217,16434492,19075190,22407852,25157968,21576590,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5697943
+1	115256529	.	TG	CT	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=CT|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=1156000
+1	115256529	.	T	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,melanoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,24370118,25157968,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,24370118,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,24370118,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=2016662
+1	115256530	.	G	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=23076151,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968,23076151,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3672366
+1	115256530	.	G	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,25157968,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968,2674680,8120410,16291983,18390968,20130576,20179705,22761467,23414587,23538902,23569304,23614898,25157968;CSQ=C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1119177
+1	115256530	.	G	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,colorectal_cancer,thyroid_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,thyroid_cancer,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,thyroid_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma,thyroid_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,thyroid_cancer,thyroid_cancer,melanoma,melanoma,colorectal_cancer,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,thyroid_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,neuroblastoma,skin_melanoma,thyroid_carcinoma,multiple_myeloma,colorectal_cancer,acute_myeloid_leukemia,uterine_corpus_endometrial_carcinoma,lung_adenocarcinoma,chronic_lymphocytic_leukemia,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,ovarian_serous_cystadenocarcinoma,nasopharynx_carcinoma,hepatocellular_carcinoma,brain_glioma,chromophobe_adenocarcinoma,glioblastoma_multiforme,adrenocortical_carcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,12460918,16273091,17384584,17699718,18948947,19255327,19773371,20619739,20736745,21305640,21729679,21829508,23406027,23515407,19657110,19657110,21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,22761467,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,18948947,19255327,19773371,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,2674680,8120410,12460918,16273091,16291983,17384584,17699718,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,17384584,17699718,2674680,8120410,12460918,16273091,16291983,18390968,18948947,19255327,19773371,20130576,20179705,20619739,20736745,21107323,21305640,21729679,21829508,22761467,23406027,23414587,23515407,23538902,23569304,23614898,19657110,26821351,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5972779
+1	115258730	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24918823,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968,24918823,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8564411
+1	115258744	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,cancer,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,cancer,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=1564247
+1	115258744	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8743971
+1	115258744	.	C	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,acute_myeloid_leukemia,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,23431193,19657110,19657110,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,23431193,25157968,18375819,23431193,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,19657110,23431193,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,23431193,16291983,18390968,20130576,20179705,23414587,19657110,2674680,8120410,25157968,18375819,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16291983,18390968,20130576,20179705,23414587,23431193,19657110,25157968,18375819,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6207786
+1	115258745	.	C	A	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,25157968,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,18390968,20130576,20179705,23414587,2674680,8120410,16291983,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8610247
+1	115258745	.	C	G	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,multiple_myeloma,acute_myeloid_leukemia,skin_melanoma,colorectal_cancer,myelodysplastic_syndrome,gastric_adenocarcinoma,medulloblastoma,non-Hodgkin_lymphoma,urinary_bladder_urothelial_carcinoma;PMID=20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,22962325,25157968,2674680,8120410,16291983,18390968,20130576,22962325,25157968,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22962325,2674680,8120410,16291983,18390968,20130576,20179705,23414587,25157968,2674680,8120410,16291983,18390968,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,8120410,16291983,18390968,2674680,20130576,20179705,23414587,22962325,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4068622
+1	115258745	.	C	T	.	.	DISEASE=stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer,stomach_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=6685248
+1	115258747	.	C	A	.	.	DISEASE=melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,colorectal_cancer,melanoma,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,19657110,25157968,21829508,23414587,20619739,20736745,21305640,21729679,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,2674680,8120410,16273091,16291983,17699718,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,18390968,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,2674680,8120410,16273091,16291983,17699718,19657110,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=3068176
+1	115258747	.	C	G	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,21305640,21729679,21829508,23414587,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,23515407,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4304909
+1	115258747	.	C	T	.	.	DISEASE=melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma,melanoma,melanoma,non-small_cell_lung_carcinoma,colorectal_cancer,melanoma,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,melanoma,melanoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,melanoma,non-small_cell_lung_carcinoma,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,colorectal_cancer,skin_melanoma,acute_myeloid_leukemia,multiple_myeloma,uterine_corpus_endometrial_carcinoma,myelodysplastic_syndrome,gastric_adenocarcinoma;PMID=2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,2278970,3122217,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,20130576,20179705,20619739,20736745,21305640,21729679,21829508,16434492,19075190,23414587,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,23515407,19657110,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,20179705,20619739,20736745,21305640,21729679,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,2278970,3122217,16434492,19075190,19657110,22144181,22407852,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,2674680,8120410,12460918,16273091,16291983,17699718,18390968,18948947,20130576,20179705,20619739,20736745,21305640,21729679,21829508,23414587,23515407,22144181,22407852,25157968,2278970,3122217,16434492,19075190,19657110,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=8858113
+7	55221821	.	GC	AA	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=9093309
+7	55221822	.	C	A	.	.	DISEASE=glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma,glioblastoma_multiforme,brain_glioma,head_and_neck_squamous_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=7486864
+9	80409488	.	T	C	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,18719078,19078957,21083380,1328859,2549426,22733540,22808163,22653968,22253748,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163,1328859,2549426,18719078,19078957,21083380,22253748,22653968,22733540,22808163;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=5195869
+9	80409488	.	TG	AA	.	.	DISEASE=uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma,uveal_melanoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=AA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000884064|promoter_flanking_region||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||,AA|intergenic_variant|MODIFIER|||||||||||||||||||substitution|||||||||||||||||||||||||||||||||||||||||||||||;QID=7012828
+10	43609077	.	CTTCCCTGAGGAGGAGAAGTGCTTCTGC	C	.	.	DISEASE=thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma,thyroid_medullary_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=-|upstream_gene_variant|MODIFIER|CAP1P2|ENSG00000232004|Transcript|ENST00000417455|processed_pseudogene|||||||||||2827|-1||deletion|HGNC|HGNC:31970|YES||||||||||||||||||||||||||||||||||||||||||||,-|intron_variant|MODIFIER|ZNF485|ENSG00000198298|Transcript|ENST00000361807|protein_coding||3/4||||||||||1||deletion|HGNC|HGNC:23440|YES|NM_145312.4||1|P1|CCDS7205.2|ENSP00000354694|Q8NCK3.156|A0A024R7T5.55|UPI00000717FE|Q8NCK3-1||||||||||||||||||||||||||||||||||;QID=4193251
+11	534289	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,skin_squamous_cell_carcinoma,salivary_gland_adenoid_cystic_carcinoma,pancreas_adenocarcinoma,lung_adenocarcinoma,colorectal_cancer,uterine_corpus_endometrial_carcinoma,gastric_adenocarcinoma,multiple_myeloma,uterine_carcinosarcoma,cervix_carcinoma,ovarian_serous_cystadenocarcinoma,breast_cancer,acute_myeloid_leukemia,esophageal_carcinoma,skin_melanoma,papillary_renal_cell_carcinoma,glioblastoma_multiforme,thyroid_carcinoma,prostate_adenocarcinoma,nasopharynx_carcinoma,myelodysplastic_syndrome,hepatocellular_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000035647|promoter||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||||SNV||||||||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|upstream_gene_variant|MODIFIER|LRRC56|ENSG00000161328|Transcript|ENST00000270115|protein_coding||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|3238|1||SNV|HGNC|HGNC:25430|YES|NM_198075.4||1|P1|CCDS7700.1|ENSP00000270115|Q8IYG6.140||UPI000007425F||1||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|downstream_gene_variant|MODIFIER||ENSG00000254739|Transcript|ENST00000526431|lncRNA||||||||||rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299|4630|1||SNV|||YES|||2||||||||||||||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||,T|missense_variant|MODERATE|HRAS|ENSG00000174775|Transcript|ENST00000311189|protein_coding|2/6||||248/1070|34/570|12/189|G/S|Ggc/Agc|rs104894229&CM053283&CM061797&COSV54236795&COSV54236828&COSV54237299||-1||SNV|HGNC|HGNC:5173|YES|NM_005343.4||1|P1|CCDS7698.1|ENSP00000309845|P01112.258|X5D945.62|UPI0000001251|P01112-1|1|deleterious(0.02)|benign(0.383)|PDB-ENSP_mappings:121p.A&PDB-ENSP_mappings:1aa9.A&PDB-ENSP_mappings:1agp.A&PDB-ENSP_mappings:1bkd.R&PDB-ENSP_mappings:1clu.A&PDB-ENSP_mappings:1crp.A&PDB-ENSP_mappings:1crq.A&PDB-ENSP_mappings:1crr.A&PDB-ENSP_mappings:1ctq.A&PDB-ENSP_mappings:1gnp.A&PDB-ENSP_mappings:1gnq.A&PDB-ENSP_mappings:1gnr.A&PDB-ENSP_mappings:1he8.B&PDB-ENSP_mappings:1iaq.A&PDB-ENSP_mappings:1iaq.B&PDB-ENSP_mappings:1iaq.C&PDB-ENSP_mappings:1ioz.A&PDB-ENSP_mappings:1jah.A&PDB-ENSP_mappings:1jai.A&PDB-ENSP_mappings:1k8r.A&PDB-ENSP_mappings:1lf0.A&PDB-ENSP_mappings:1lf5.A&PDB-ENSP_mappings:1lfd.B&PDB-ENSP_mappings:1lfd.D&PDB-ENSP_mappings:1nvu.Q&PDB-ENSP_mappings:1nvu.R&PDB-ENSP_mappings:1nvv.Q&PDB-ENSP_mappings:1nvv.R&PDB-ENSP_mappings:1nvw.Q&PDB-ENSP_mappings:1nvw.R&PDB-ENSP_mappings:1nvx.Q&PDB-ENSP_mappings:1nvx.R&PDB-ENSP_mappings:1p2s.A&PDB-ENSP_mappings:1p2t.A&PDB-ENSP_mappings:1p2u.A&PDB-ENSP_mappings:1p2v.A&PDB-ENSP_mappings:1plj.A&PDB-ENSP_mappings:1plk.A&PDB-ENSP_mappings:1pll.A&PDB-ENSP_mappings:1q21.A&PDB-ENSP_mappings:1qra.A&PDB-ENSP_mappings:1rvd.A&PDB-ENSP_mappings:1wq1.R&PDB-ENSP_mappings:1xcm.A&PDB-ENSP_mappings:1xd2.A&PDB-ENSP_mappings:1xd2.B&PDB-ENSP_mappings:1xj0.A&PDB-ENSP_mappings:1zvq.A&PDB-ENSP_mappings:1zw6.A&PDB-ENSP_mappings:221p.A&PDB-ENSP_mappings:2c5l.A&PDB-ENSP_mappings:2c5l.B&PDB-ENSP_mappings:2ce2.X&PDB-ENSP_mappings:2cl0.X&PDB-ENSP_mappings:2cl6.X&PDB-ENSP_mappings:2cl7.X&PDB-ENSP_mappings:2clc.X&PDB-ENSP_mappings:2cld.X&PDB-ENSP_mappings:2evw.X&PDB-ENSP_mappings:2lcf.A&PDB-ENSP_mappings:2lwi.A&PDB-ENSP_mappings:2n42.A&PDB-ENSP_mappings:2n46.A&PDB-ENSP_mappings:2q21.A&PDB-ENSP_mappings:2quz.A&PDB-ENSP_mappings:2rga.A&PDB-ENSP_mappings:2rgb.A&PDB-ENSP_mappings:2rgc.A&PDB-ENSP_mappings:2rgd.A&PDB-ENSP_mappings:2rge.A&PDB-ENSP_mappings:2rgg.A&PDB-ENSP_mappings:2uzi.R&PDB-ENSP_mappings:2vh5.R&PDB-ENSP_mappings:2x1v.A&Gene3D:3.40.50.300&PDB-ENSP_mappings:3ddc.A&PDB-ENSP_mappings:3i3s.R&PDB-ENSP_mappings:3k8y.A&PDB-ENSP_mappings:3k9l.A&PDB-ENSP_mappings:3k9l.B&PDB-ENSP_mappings:3k9l.C&PDB-ENSP_mappings:3k9n.A&PDB-ENSP_mappings:3kkm.A&PDB-ENSP_mappings:3kkn.A&PDB-ENSP_mappings:3kud.A&PDB-ENSP_mappings:3l8y.A&PDB-ENSP_mappings:3l8z.A&PDB-ENSP_mappings:3lbh.A&PDB-ENSP_mappings:3lbi.A&PDB-ENSP_mappings:3lbn.A&PDB-ENSP_mappings:3lo5.A&PDB-ENSP_mappings:3lo5.C&PDB-ENSP_mappings:3lo5.E&PDB-ENSP_mappings:3oiu.A&PDB-ENSP_mappings:3oiv.A&PDB-ENSP_mappings:3oiw.A&PDB-ENSP_mappings:3rry.A&PDB-ENSP_mappings:3rrz.A&PDB-ENSP_mappings:3rs0.A&PDB-ENSP_mappings:3rs2.A&PDB-ENSP_mappings:3rs3.A&PDB-ENSP_mappings:3rs4.A&PDB-ENSP_mappings:3rs5.A&PDB-ENSP_mappings:3rs7.A&PDB-ENSP_mappings:3rsl.A&PDB-ENSP_mappings:3rso.A&PDB-ENSP_mappings:3tgp.A&PDB-ENSP_mappings:421p.A&PDB-ENSP_mappings:4dlr.A&PDB-ENSP_mappings:4dls.A&PDB-ENSP_mappings:4dlt.A&PDB-ENSP_mappings:4dlu.A&PDB-ENSP_mappings:4dlv.A&PDB-ENSP_mappings:4dlw.A&PDB-ENSP_mappings:4dlx.A&PDB-ENSP_mappings:4dly.A&PDB-ENSP_mappings:4dlz.A&PDB-ENSP_mappings:4efl.A&PDB-ENSP_mappings:4efm.A&PDB-ENSP_mappings:4efn.A&PDB-ENSP_mappings:4g0n.A&PDB-ENSP_mappings:4g3x.A&PDB-ENSP_mappings:4k81.B&PDB-ENSP_mappings:4k81.D&PDB-ENSP_mappings:4k81.F&PDB-ENSP_mappings:4k81.H&PDB-ENSP_mappings:4l9s.A&PDB-ENSP_mappings:4l9w.A&PDB-ENSP_mappings:4nyi.Q&PDB-ENSP_mappings:4nyi.R&PDB-ENSP_mappings:4nyj.Q&PDB-ENSP_mappings:4nyj.R&PDB-ENSP_mappings:4nym.Q&PDB-ENSP_mappings:4nym.R&PDB-ENSP_mappings:4q21.A&PDB-ENSP_mappings:4rsg.A&PDB-ENSP_mappings:4uru.R&PDB-ENSP_mappings:4urv.R&PDB-ENSP_mappings:4urw.R&PDB-ENSP_mappings:4urx.R&PDB-ENSP_mappings:4ury.R&PDB-ENSP_mappings:4urz.R&PDB-ENSP_mappings:4us0.R&PDB-ENSP_mappings:4us1.R&PDB-ENSP_mappings:4us2.R&PDB-ENSP_mappings:4xvq.A&PDB-ENSP_mappings:4xvr.A&PDB-ENSP_mappings:521p.A&PDB-ENSP_mappings:5b2z.A&PDB-ENSP_mappings:5b30.A&PDB-ENSP_mappings:5e95.A&PDB-ENSP_mappings:5p21.A&PDB-ENSP_mappings:5vbe.A&PDB-ENSP_mappings:5vbz.A&PDB-ENSP_mappings:5vbz.B&PDB-ENSP_mappings:5vbz.C&PDB-ENSP_mappings:5wdo.A&PDB-ENSP_mappings:5wdp.A&PDB-ENSP_mappings:5wdq.A&PDB-ENSP_mappings:5wfo.Q&PDB-ENSP_mappings:5wfo.R&PDB-ENSP_mappings:5wfp.Q&PDB-ENSP_mappings:5wfp.R&PDB-ENSP_mappings:5wfq.Q&PDB-ENSP_mappings:5wfq.R&PDB-ENSP_mappings:5wfr.Q&PDB-ENSP_mappings:5wfr.R&PDB-ENSP_mappings:5wpl.A&PDB-ENSP_mappings:5wpl.D&PDB-ENSP_mappings:5wpl.G&PDB-ENSP_mappings:5wpl.J&PDB-ENSP_mappings:5x9s.A&PDB-ENSP_mappings:5zc6.A&PDB-ENSP_mappings:621p.A&PDB-ENSP_mappings:6amb.A&PDB-ENSP_mappings:6axg.B&PDB-ENSP_mappings:6axg.D&PDB-ENSP_mappings:6axg.F&PDB-ENSP_mappings:6axg.H&PDB-ENSP_mappings:6axg.J&PDB-ENSP_mappings:6axg.L&PDB-ENSP_mappings:6bvi.A&PDB-ENSP_mappings:6bvi.C&PDB-ENSP_mappings:6bvj.A&PDB-ENSP_mappings:6bvj.C&PDB-ENSP_mappings:6bvk.A&PDB-ENSP_mappings:6bvk.C&PDB-ENSP_mappings:6bvl.A&PDB-ENSP_mappings:6bvl.C&PDB-ENSP_mappings:6bvm.A&PDB-ENSP_mappings:6bvm.C&PDB-ENSP_mappings:6cuo.A&PDB-ENSP_mappings:6cuo.C&PDB-ENSP_mappings:6cup.A&PDB-ENSP_mappings:6cup.C&PDB-ENSP_mappings:6cur.A&PDB-ENSP_mappings:6cur.C&PDB-ENSP_mappings:6d55.A&PDB-ENSP_mappings:6d55.C&PDB-ENSP_mappings:6d56.A&PDB-ENSP_mappings:6d56.C&PDB-ENSP_mappings:6d59.A&PDB-ENSP_mappings:6d59.C&PDB-ENSP_mappings:6d5e.A&PDB-ENSP_mappings:6d5e.C&PDB-ENSP_mappings:6d5g.A&PDB-ENSP_mappings:6d5g.C&PDB-ENSP_mappings:6d5h.A&PDB-ENSP_mappings:6d5h.C&PDB-ENSP_mappings:6d5j.A&PDB-ENSP_mappings:6d5j.C&PDB-ENSP_mappings:6d5l.A&PDB-ENSP_mappings:6d5l.C&PDB-ENSP_mappings:6d5m.Q&PDB-ENSP_mappings:6d5m.R&PDB-ENSP_mappings:6d5v.Q&PDB-ENSP_mappings:6d5v.R&PDB-ENSP_mappings:6d5w.Q&PDB-ENSP_mappings:6d5w.R&PDB-ENSP_mappings:6dzh.A&PDB-ENSP_mappings:6dzh.B&PDB-ENSP_mappings:6dzh.C&PDB-ENSP_mappings:6e6c.A&PDB-ENSP_mappings:6e6p.A&PDB-ENSP_mappings:6e6p.B&PDB-ENSP_mappings:6e6p.C&PDB-ENSP_mappings:6mqt.A&PDB-ENSP_mappings:6mqt.B&PDB-ENSP_mappings:6mqt.C&PDB-ENSP_mappings:6mqt.D&PDB-ENSP_mappings:6mqt.E&PDB-ENSP_mappings:6mqt.F&PDB-ENSP_mappings:6mqt.G&PDB-ENSP_mappings:6mqt.H&PDB-ENSP_mappings:6ntc.A&PDB-ENSP_mappings:6ntd.A&PDB-ENSP_mappings:6q21.A&PDB-ENSP_mappings:6q21.B&PDB-ENSP_mappings:6q21.C&PDB-ENSP_mappings:6q21.D&PDB-ENSP_mappings:6v94.A&PDB-ENSP_mappings:6v94.C&PDB-ENSP_mappings:6v9f.A&PDB-ENSP_mappings:6v9f.C&PDB-ENSP_mappings:6v9j.A&PDB-ENSP_mappings:6v9j.C&PDB-ENSP_mappings:6v9l.A&PDB-ENSP_mappings:6v9l.C&PDB-ENSP_mappings:6v9m.A&PDB-ENSP_mappings:6v9m.C&PDB-ENSP_mappings:6v9n.A&PDB-ENSP_mappings:6v9n.C&PDB-ENSP_mappings:6v9o.A&PDB-ENSP_mappings:6v9o.C&PDB-ENSP_mappings:6zj0.A&PDB-ENSP_mappings:6zl3.A&PDB-ENSP_mappings:721p.A&PDB-ENSP_mappings:7dph.A&PDB-ENSP_mappings:7dpj.A&PDB-ENSP_mappings:7jhp.A&PDB-ENSP_mappings:7l0f.A&PDB-ENSP_mappings:7l0f.E&PDB-ENSP_mappings:7l0f.G&PDB-ENSP_mappings:7l0f.L&PDB-ENSP_mappings:7l0g.A&PDB-ENSP_mappings:7l0g.B&PDB-ENSP_mappings:7l0g.E&PDB-ENSP_mappings:7l0g.G&PDB-ENSP_mappings:821p.A&AFDB-ENSP_mappings:AF-P01112-F1.A&Pfam:PF00071&Prints:PR00449&PROSITE_profiles:PS51419&PROSITE_profiles:PS51420&PROSITE_profiles:PS51421&PANTHER:PTHR24070&PANTHER:PTHR24070:SF385&SMART:SM00173&SMART:SM00174&SMART:SM00175&Superfamily:SSF52540&TIGRFAM:TIGR00231&CDD:cd04138&Low_complexity_(Seg):seg|||||||||||||||||||||1KG_ALL:T:NA|pathogenic&likely_pathogenic|0&0&0&1&1&1|1&1&1&1&1&1|25741868&24033266&23757202&26619011&22499344&25157968&17384584&16372351&16835863&16170316&16443854&21850009&16329078&19255327&19773371&22683711&23406027&24129065&11150980&16478791&16881968&16969868&17054105&17412879&18039947&18978862&19206176&19371735&19382114&19669404&20660566&22087699&22317973&22926243&24224811&22495892&31394527&16155195&25914166&23429430&34013078|||||;QID=7489632
+11	8457665	.	A	C	.	.	DISEASE=pancreatic_cancer,pancreatic_cancer,pancreatic_cancer;PMID=20581473,20581473,20581473;CSQ=C|intron_variant|MODIFIER|STK33|ENSG00000130413|Transcript|ENST00000687296|protein_coding||8/15||||||||||-1||SNV|HGNC|HGNC:14568|YES|NM_001352389.2|||P1|CCDS7789.1|ENSP00000509322|||UPI000004496E|||||||||||||||||||||||||||||||||||;QID=9126193
+11	32417908	.	C	CACCGTACA	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364,24374862,24422723,24521058,24659740,24667279,24671364;CSQ=ACCGTACA|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000955104|promoter_flanking_region||||||||||||||insertion|||||||||||||||||||||||||||||||||||||||||||||||,ACCGTACA|intron_variant|MODIFIER|WT1|ENSG00000184937|Transcript|ENST00000452863|protein_coding||3/9||||||||||-1||insertion|HGNC|HGNC:12796|YES|NM_024426.6||1|||ENSP00000415516|P19544.246|A0A0A0MT54.46|UPI0001A61559|P19544-7|1|||||||||||||||||||||||||||||||||;QID=9364077
+11	65830499	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,skin_melanoma,hepatocellular_carcinoma,breast_cancer;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3464|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=8957818
+11	65830884	.	A	G	.	.	DISEASE=breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma,breast_cancer,chronic_lymphocytic_leukemia,pancreas_adenocarcinoma,myelodysplastic_syndrome,medulloblastoma,acute_myeloid_leukemia,renal_clear_cell_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|intron_variant&non_coding_transcript_variant|MODIFIER|CFL1|ENSG00000172757|Transcript|ENST00000527752|processed_transcript||1/3||||||||||-1||SNV|HGNC|HGNC:1874||||5|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNX32|ENSG00000172803|Transcript|ENST00000308342|protein_coding|||||||||||3079|1||SNV|HGNC|HGNC:26423|YES|NM_152760.3||1|P1|CCDS8113.2|ENSP00000310620|Q86XE0.141||UPI000000DAEA|Q86XE0-1||||||||||||||||||||||||||||||||||;QID=1715869
+11	67352689	.	A	G	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=19922504,19922504,19922504,19922504,19922504,19922504;CSQ=G|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000264515|promoter||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER||ENSG00000274251|Transcript|ENST00000613900|lncRNA|||||||||||940|1||SNV|||YES|||3|||||||||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH|POLD4|ENSG00000175482|Transcript|ENST00000312419|protein_coding||3/3||||||||||-1||SNV|HGNC|HGNC:14106|YES|NM_021173.5||1|P1|CCDS8158.1|ENSP00000311368|Q9HCU8.159|A0A024R5D7.50|UPI0000129741|Q9HCU8-1||||||||||||||||||||||||||||||||||,G|splice_donor_variant|HIGH||ENSG00000256514|Transcript|ENST00000543494|protein_coding||3/3||||||||||-1||SNV|||YES|||3|P1||ENSP00000480527||A0A087WWV3.31|UPI00001FAD87|||||||||||||||||||||||||||||||||||,G|intron_variant&non_coding_transcript_variant|MODIFIER|RAD9A|ENSG00000172613|Transcript|ENST00000622583|processed_transcript||2/3||||||||||1||SNV|HGNC|HGNC:9827||||2|||||||||||||||||||||||||||||||||||||||||;QID=2669371
+11	108218044	.	A	C	.	.	DISEASE=prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer,prostate_cancer;PMID=26510020,26510020,26510020,26510020,26510020,26510020;CSQ=C|intron_variant|MODIFIER|NPAT|ENSG00000149308|Transcript|ENST00000278612|protein_coding||1/17||||||||||-1||SNV|HGNC|HGNC:7896|YES|NM_002519.3||1|P1|CCDS41710.1|ENSP00000278612|Q14207.135||UPI00001FA306|||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|ATM|ENSG00000149311|Transcript|ENST00000683488|retained_intron|||||||||||5000|1||SNV|HGNC|HGNC:795||||||||||||1|||||||||||||||||||||||||||||||||;QID=7068648
+13	48955550	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4625945
+13	49027168	.	C	T	.	.	DISEASE=retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma,retinoblastoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000978453|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=5469126
+13	49037877	.	G	T	.	.	DISEASE=lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma,lung_small_cell_carcinoma;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||;QID=2778514
+13	49039164	.	G	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|intron_variant|MODIFIER|FNDC3A|ENSG00000102531|Transcript|ENST00000492622|protein_coding||2/25||||||||||1||SNV|HGNC|HGNC:20296|YES|NM_001079673.2||1|P4|CCDS41886.1|ENSP00000417257|Q9Y2H6.176|A0A024RDT9.39|UPI0000229601|Q9Y2H6-1||||||||||||||||||||||||||||||||||,T|downstream_gene_variant|MODIFIER|RAD17P2|ENSG00000223724|Transcript|ENST00000451754|processed_pseudogene|||||||||||4915|-1||SNV|HGNC|HGNC:9809|YES||||||||||||||||||||||||||||||||||||||||||||;QID=3628149
+14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=8638274
+14	105243048	.	G	T	.	.	DISEASE=melanoma,melanoma,melanoma,melanoma,melanoma,melanoma;PMID=24265152,24265152,24265152,24265152,24265152,24265152;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=9543021
+14	105246551	.	C	T	.	.	DISEASE=breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma,breast_cancer,breast_cancer,melanoma;PMID=23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930,23888070,26351323,24735930;CSQ=T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||;QID=4525874
+14	105246551	.	C	T	.	.	DISEASE=colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,lung_adenocarcinoma,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,lung_small_cell_carcinoma,breast_cancer,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,prostate_cancer,breast_cancer,prostate_cancer,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,breast_cancer,breast_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,endometrial_adenocarcinoma,osteosarcoma,meningioma,non-small_cell_lung_carcinoma,lung_adenocarcinoma,lung_small_cell_carcinoma,colorectal_cancer,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,breast_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,non-small_cell_lung_carcinoma,colorectal_cancer,breast_cancer,breast_cancer,prostate_cancer,prostate_cancer,colorectal_cancer,lung_small_cell_carcinoma,lung_adenocarcinoma,non-small_cell_lung_carcinoma,meningioma,osteosarcoma,endometrial_adenocarcinoma,breast_cancer,prostate_cancer,breast_cancer,lung_adenocarcinoma,colorectal_cancer,thyroid_carcinoma,gastric_adenocarcinoma,prostate_adenocarcinoma,cervix_carcinoma,skin_melanoma,lung_squamous_cell_carcinoma,hepatocellular_carcinoma,head_and_neck_squamous_cell_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,18256540,18392055,18504432,18611285,20233444,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,20453058,17611497,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,17611497,17611497,23728071,17611497,18256540,18392055,22980975,18504432,18611285,24657128,20453058,21464312,22722839,23700467,23934607,22610119,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18504432,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,17611497,17611497,17611497,18256540,18392055,18504432,18611285,20233444,20453058,21464312,22610119,22722839,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,22980975,24657128,23700467,23934607,22610119,21464312,22722839,19418217,18504432,19487299,18611285,20233444,20453058,17611497,17611497,17611497,18256540,18392055,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,20233444,18392055,18504432,18611285,17611497,17611497,17611497,18256540,20453058,21464312,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,19418217,19487299,21512767,22538770,22722201,23237847,19853286,24190505,23348505,23728071,22980975,24657128,23700467,23934607,18611285,20233444,17611497,17611497,18256540,18392055,18504432,17611497,20453058,21464312,22610119,22722839,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|upstream_gene_variant|MODIFIER|BTBD6|ENSG00000184887|Transcript|ENST00000392554|protein_coding|||||||||||1982|1||SNV|HGNC|HGNC:19897|YES|NM_001387567.1||1|A2||ENSP00000376337|Q96KE9.154||UPI0000EE3528|Q96KE9-1||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|BRF1|ENSG00000185024|Transcript|ENST00000547530|protein_coding||5/17||||||||||-1||SNV|HGNC|HGNC:11551|YES|NM_001519.4||1|P1|CCDS10001.1|ENSP00000448387|Q92994.183||UPI0000136C55|Q92994-1|1|||||||||||||||||||||||||||||||||;QID=8857106
+16	3788617	.	C	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=2701476
+16	3788618	.	G	A	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=4063141
+16	3788618	.	G	C	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma,head_and_neck_squamous_cell_carcinoma,medulloblastoma,hepatocellular_carcinoma,urinary_bladder_urothelial_carcinoma,gastric_adenocarcinoma,skin_melanoma,lung_squamous_cell_carcinoma,glioblastoma_multiforme,colorectal_cancer,cervix_carcinoma,salivary_gland_adenoid_cystic_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000998516|enhancer||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,C|intron_variant|MODIFIER|CREBBP|ENSG00000005339|Transcript|ENST00000262367|protein_coding||5/30||||||||||-1||SNV|HGNC|HGNC:2348|YES|NM_004380.3||1|P1|CCDS10509.1|ENSP00000262367|Q92793.248||UPI0000000620|Q92793-1|1|||||||||||||||||||||||||||||||||;QID=5093896
+16	69745145	.	G	A	.	.	DISEASE=lung_cancer,lung_cancer,lung_cancer,lung_cancer,lung_cancer;PMID=21964527,21964527,21964527,21964527,21964527;CSQ=A|downstream_gene_variant|MODIFIER|NQO1-DT|ENSG00000262136|Transcript|ENST00000575838|lncRNA|||||||||||2582|1||SNV|HGNC|HGNC:55344|YES|||5|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|NOB1|ENSG00000141101|Transcript|ENST00000268802|protein_coding||7/8||||||||||-1||SNV|HGNC|HGNC:29540|YES|NM_014062.3||1|P1|CCDS10884.1|ENSP00000268802|Q9ULX3.171||UPI0000034E10|||||||||||||||||||||||||||||||||||;QID=9938401
+16	81946260	.	C	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000088553|promoter_flanking_region||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||,T|synonymous_variant|LOW|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|31/33||||3748/8666|3567/3798|1189/1265|V|gtC/gtT|||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||Gene3D:2.60.40.150&AFDB-ENSP_mappings:AF-P16885-F1.A&PIRSF:PIRSF000952&PANTHER:PTHR10336&PANTHER:PTHR10336:SF25||||||||||||||||||||||||||||||;QID=1149171
+16	81962183	.	A	C	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=C|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||,C|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||;QID=7634266
+16	81962183	.	A	T	.	.	DISEASE=chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia,chronic_lymphocytic_leukemia;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=T|3_prime_UTR_variant|MODIFIER|PLCG2|ENSG00000197943|Transcript|ENST00000564138|protein_coding|33/33||||8164/8666|||||||1||SNV|HGNC|HGNC:9066|YES|NM_002661.5||1|P1|CCDS42204.1|ENSP00000482457|P16885.236||UPI00001411F7||1|||||||||||||||||||||||||||||||||,T|non_coding_transcript_exon_variant|MODIFIER|RN7SKP176|ENSG00000260682|Transcript|ENST00000363673|misc_RNA|1/1||||258/318|||||||1||SNV|HGNC|HGNC:45900|YES|||||||||||||||miRNA_loop|||||||||||||||||||||||||||||;QID=4202408
+17	7577022	.	G	A	.	.	DISEASE=colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer,colorectal_cancer,head_and_neck_cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||70|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2616|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay||15/20||||||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2175|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4946|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||933|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|intron_variant&non_coding_transcript_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA||5/11||||||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|intron_variant|MODIFIER|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding||5/10||||||||||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||||||||||||||||||||||||||||||||;QID=3331753
+17	7577081	.	T	A	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=A|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,A|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtA|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,A|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,A|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,A|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=8273467
+17	7577081	.	T	C	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=C|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,C|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,C|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtC|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,C|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,C|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,C|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=9063457
+17	7577081	.	T	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2234|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4887|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||874|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|synonymous_variant|LOW|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||557/1758|540/1221|180/406|V|gtT/gtG|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||||PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||556/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||129|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2557|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2609/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||;QID=4523468
+17	7577082	.	C	G	.	.	DISEASE=lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,lung_adenocarcinoma,breast_cancer,gastric_adenocarcinoma,head_and_neck_squamous_cell_carcinoma,skin_melanoma,lung_small_cell_carcinoma,hepatocellular_carcinoma,skin_squamous_cell_carcinoma,colorectal_cancer,pancreas_adenocarcinoma,ovarian_serous_cystadenocarcinoma,brain_glioma,acute_myeloid_leukemia,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=G|3_prime_UTR_variant&NMD_transcript_variant|MODIFIER|SENP3-EIF4A1|ENSG00000277957|Transcript|ENST00000614237|nonsense_mediated_decay|16/21||||2610/3519|||||||1|cds_start_NF|SNV|HGNC|HGNC:49182|YES|||2|P1||ENSP00000483614||A0A087X0R7.35|UPI0004620C63|||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|CD68|ENSG00000129226|Transcript|ENST00000250092|protein_coding|||||||||||2556|1||SNV|HGNC|HGNC:1693|YES|NM_001251.3||1|P1|CCDS11114.1|ENSP00000250092|P34810.180||UPI000013CCA1|P34810-1||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORD10|ENSG00000238917|Transcript|ENST00000459579|snoRNA|||||||||||130|1||SNV|HGNC|HGNC:32706|YES||||||||||||||||||||||||||||||||||||||||||||,G|missense_variant|MODERATE|EIF4A1|ENSG00000161960|Transcript|ENST00000293831|protein_coding|6/11||||558/1758|541/1221|181/406|L/V|Ctg/Gtg|||1||SNV|HGNC|HGNC:3282|YES|NM_001416.4||1|P1|CCDS11113.1|ENSP00000293831|P60842.194||UPI000000411B|P60842-1||deleterious(0)|possibly_damaging(0.773)|PDB-ENSP_mappings:2g9n.A&PDB-ENSP_mappings:2g9n.B&PDB-ENSP_mappings:2zu6.A&PDB-ENSP_mappings:2zu6.C&PDB-ENSP_mappings:2zu6.D&PDB-ENSP_mappings:2zu6.F&Gene3D:3.40.50.300&PDB-ENSP_mappings:3eiq.A&PDB-ENSP_mappings:3eiq.D&PDB-ENSP_mappings:5zbz.A&PDB-ENSP_mappings:5zc9.A&PDB-ENSP_mappings:6zmw.j&AFDB-ENSP_mappings:AF-P60842-F1.A&Pfam:PF00270&PROSITE_patterns:PS00039&PROSITE_profiles:PS51192&PANTHER:PTHR24031&PANTHER:PTHR24031:SF625&SMART:SM00487&Superfamily:SSF52540&CDD:cd18046||||||||||||||||||||||||||||||,G|non_coding_transcript_exon_variant|MODIFIER||ENSG00000264772|Transcript|ENST00000581621|lncRNA|6/12||||557/4554|||||||1||SNV|||YES|||2|||||||||||||||||||||||||||||||||||||||||,G|upstream_gene_variant|MODIFIER|SNORA67|ENSG00000277985|Transcript|ENST00000384423|snoRNA|||||||||||873|1||SNV|HGNC|HGNC:10224|YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER||ENSG00000233223|Transcript|ENST00000655859|lncRNA|||||||||||4886|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||,G|downstream_gene_variant|MODIFIER|SNORA48|ENSG00000209582|Transcript|ENST00000386847|snoRNA|||||||||||2235|1||SNV|HGNC|HGNC:32641|YES||||||||||||||||||||||||||||||||||||||||||||;QID=2445381
+18	48604787	.	G	T	.	.	DISEASE=colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer,colorectal_cancer;PMID=8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767,8898652,9679244,10479724,10775259,12821112,14715079,17994767;CSQ=T|intron_variant|MODIFIER|CTIF|ENSG00000134030|Transcript|ENST00000256413|protein_coding||1/11||||||||||1||SNV|HGNC|HGNC:23925|YES|NM_014772.3||1|A1|CCDS11935.1|ENSP00000256413|O43310.155|A0A024R259.54|UPI00001397BF|O43310-1||||||||||||||||||||||||||||||||||;QID=2499035
+19	1207021	.	C	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000581654|promoter||||||||||rs137853079&COSV58821891&COSV58822627||||SNV|||||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|synonymous_variant|LOW|STK11|ENSG00000118046|Transcript|ENST00000326873|protein_coding|1/10||||1244/3293|108/1302|36/433|Y|taC/taT|rs137853079&COSV58821891&COSV58822627||1||SNV|HGNC|HGNC:11389|YES|NM_000455.5||1|P1|CCDS45896.1|ENSP00000324856|Q15831.224|A0A0S2Z4D1.34|UPI0000136105|Q15831-1|1|||AFDB-ENSP_mappings:AF-Q15831-F1.A&PANTHER:PTHR43895&PANTHER:PTHR43895:SF25||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||,T|downstream_gene_variant|MODIFIER|HMGB2P1|ENSG00000267736|Transcript|ENST00000591146|transcribed_processed_pseudogene||||||||||rs137853079&COSV58821891&COSV58822627|3179|1||SNV|HGNC|HGNC:39174|YES||||||||||||||||||||||||1.613e-05|0|0|0|0|0.0001405|8.919e-06|0|0|0.0001405|gnomAD_FIN|1KG_ALL:T:NA|likely_benign|0&1&1|1&1&1|10362809|||||;QID=7990793
+20	57484421	.	G	T	.	.	DISEASE=pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma,pancreas_adenocarcinoma,colorectal_cancer,gastric_adenocarcinoma,lung_adenocarcinoma,hepatocellular_carcinoma,breast_cancer,skin_melanoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,adrenocortical_carcinoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3538|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=3743567
+20	57484596	.	A	T	.	.	DISEASE=cancer,cancer,cancer,cancer,cancer,cancer,cancer;PMID=25157968,25157968,25157968,25157968,25157968,25157968,25157968;CSQ=T|downstream_gene_variant|MODIFIER|HMGB1P1|ENSG00000124097|Transcript|ENST00000522557|protein_coding|||||||||||3363|-1||SNV|HGNC|HGNC:4993|YES||||P1||ENSP00000508468|B2RPK0.92||UPI0000073747|||||||||||||||||||||||||||||||||||;QID=4176343
+21	36231783	.	G	A	.	.	DISEASE=acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia,acute_myeloid_leukemia;PMID=10508512,10508512,10508512,10508512,10508512,10508512,10508512,10508512;CSQ=A|intron_variant|MODIFIER|DOP1B|ENSG00000142197|Transcript|ENST00000691173|protein_coding||14/36||||||||||1||SNV|HGNC|HGNC:1291|YES|NM_001320714.2|||P1|CCDS13643.1|ENSP00000509598|||UPI000013D876|||||||||||||||||||||||||||||||||||;QID=7280589
+22	41565529	.	G	T	.	.	DISEASE=head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma,head_and_neck_squamous_cell_carcinoma,cervix_carcinoma,lung_squamous_cell_carcinoma,esophageal_carcinoma,urinary_bladder_urothelial_carcinoma,medulloblastoma;PMID=26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011,26619011;CSQ=T|intron_variant|MODIFIER|CSDC2|ENSG00000172346|Transcript|ENST00000306149|protein_coding||1/3||||||||||1||SNV|HGNC|HGNC:30359|YES|NM_014460.4||1|P1|CCDS14019.1|ENSP00000302485|Q9Y534.149||UPI000006D88D|||||||||||||||||||||||||||||||||||,T|upstream_gene_variant|MODIFIER||ENSG00000286491|Transcript|ENST00000664614|lncRNA|||||||||||4597|-1||SNV|||YES||||||||||||||||||||||||||||||||||||||||||||;QID=9058027
+X	100611164	.	C	G	.	.	DISEASE=breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer,breast_cancer;PMID=24869598,24869598,24869598,24869598,24869598,24869598,24869598;CSQ=G|intergenic_variant|MODIFIER|||||||||||||||||||SNV|||||||||||||||||||||||||||||||||||||||||||||||;QID=4307699
diff --git a/querynator/query_api/civic_api.py b/querynator/query_api/civic_api.py
index 60ab0e8..43e7485 100644
--- a/querynator/query_api/civic_api.py
+++ b/querynator/query_api/civic_api.py
@@ -159,7 +159,7 @@ def append_to_dict(dict1, dict2):
                 dict1[key].append(value)
             else:
                 if dict1[key] == "":
-                    dict1[key] = dict2[key]
+                    dict1[key] = [dict2[key]]
                 else:
                     dict1[key] = [dict1[key], dict2[key]]
 
@@ -417,12 +417,12 @@ def get_evidence_information_from_variant(variant_obj, diseases):
                     "evidence_level": evidence.evidence_level,
                     "evidence_support": evidence.evidence_direction,
                     "evidence_type": evidence.evidence_type,
-                    "evidence_phenotypes": ", ".join([i.name for i in evidence.phenotypes]),
+                    "evidence_phenotypes": "+".join([i.name for i in evidence.phenotypes]),
                     "evidence_rating": evidence.rating,
                     "evidence_significance": evidence.significance,
                     "evidence_source": evidence.source.name,
                     "evidence_status": evidence.status,
-                    "evidence_therapies": ", ".join([i.name for i in evidence.therapies]),
+                    "evidence_therapies": "+".join([i.name for i in evidence.therapies]),
                     "evidence_therapy_interaction_type": evidence.therapy_interaction_type,
                 }
             except IndexError:
diff --git a/querynator/report_scripts/combine_cgi.py b/querynator/report_scripts/combine_cgi.py
index f40f3d0..006be1d 100644
--- a/querynator/report_scripts/combine_cgi.py
+++ b/querynator/report_scripts/combine_cgi.py
@@ -293,7 +293,9 @@ def link_biomarkers(biomarkers_df, logger):
 
 def get_highest_evidence(row, biomarkers_linked):
     """
-    get highest associated CGI evidence of the current alteration (A-D) from the biomarkers datafrane
+    get highest associated CGI evidence of the current alteration (A-D) from the biomarkers dataframe.
+
+    consider evidence matched on gene, alteration and cancer type, as well as off-label use (level A evidence for different cancer is level C evidence for this cancer).
 
     :param row: row of a pandas DataFrame
     :type row: pandas Series
@@ -308,10 +310,8 @@ def get_highest_evidence(row, biomarkers_linked):
         if row["Protein Change_CGI"].startswith("*"):
             row["Protein Change_CGI"] = row["Protein Change_CGI"].replace("*", "\*")
 
-        # highest evidence level has lowest char value (A<B<C<D)
-        max_evidence_level = biomarkers_linked.loc[
-            (biomarkers_linked["alterations_link"].str.contains(row["Protein Change_CGI"]))
-        ]["Evidence"].min()
+        curr_alteration_msk = biomarkers_linked["alterations_link"].str.contains(row["Protein Change_CGI"])
+        max_evidence_level = biomarkers_linked.loc[curr_alteration_msk, "Evidence"].min()
 
         return max_evidence_level
 
@@ -342,6 +342,30 @@ def check_wildtypes(biomarkers: pd.DataFrame, vcf: pd.DataFrame, logger) -> None
     return
 
 
+def filter_biomarkers(biomarkers_df: pd.DataFrame, logger) -> pd.DataFrame:
+    """
+    adapt biomarkers to only consider
+    - "complete" biomarkers (gene, alteration)
+    - matches between alteration & biomarker (gene, alteration, cancer type)
+    - off-label use (level A evidence for different cancer is level C evidence for this cancer)
+
+    :biomarkers_df : the dataframe containing the cgi result 'biomarkers.tsv'
+    :logger        : the logger
+    :return        : the adapted biomarkers dataframe
+    """
+    complete_biom_msk = biomarkers_df.BioM == "complete"
+    match_msk = biomarkers_df["Match"] == "YES"
+    off_label_msk = ~match_msk & (biomarkers_df["Evidence"] == "A")
+    filter = complete_biom_msk & (match_msk | off_label_msk)
+
+    biomarkers_df.loc[off_label_msk, "Evidence"] = "C"
+    biomarkers_df["alterations_link"] = biomarkers_df["alterations_link"].astype(str)
+
+    logger.info(f"CGI: filtered {(~filter).sum()} irrelevant biomarkers, {filter.sum()} remaining")
+
+    return biomarkers_df.loc[filter]
+
+
 def combine_cgi(cgi_path, outdir, logger):
     """
     Command to combine the cgi results with the vcf's VEP annotation
@@ -369,19 +393,14 @@ def combine_cgi(cgi_path, outdir, logger):
     alterations_df = read_modify_alterations(alterations_path)
     merged_df = merge_alterations_vep(vep_df, alterations_df)
 
-    # link alterations in biomarkers
+    # link alterations in biomarkers & filter
     biomarkers_df = link_biomarkers(biomarkers_df, logger)
-    biomarkers_df.to_csv(f"{outdir}/combined_files/biomarkers_linked.tsv", sep="\t", index=False)
+    biomarkers_df = filter_biomarkers(biomarkers_df, logger)
+    biomarkers_df.to_csv(f"{outdir}/combined_files/biomarkers_linked_filtered.tsv", sep="\t", index=False)
 
     check_wildtypes(biomarkers_df, vep_df, logger)
 
     # add CGI evidence col to merged_df
-
-    # adapt biomarkers to only consider "complete" matches between alteration & biomarker
-    biomarkers_df = biomarkers_df[biomarkers_df.BioM == "complete"]
-    # biomarkers_linked["alterations_link"] = biomarkers_linked["alterations_link"].astype(str)
-    biomarkers_df["alterations_link"] = biomarkers_df["alterations_link"].apply(str)
-    # add CGI evidence col
     merged_df["evidence_CGI"] = merged_df.apply(lambda x: get_highest_evidence(x, biomarkers_df), axis=1)
     # write merged to report dir
     merged_df.to_csv(f"{outdir}/combined_files/alterations_vep.tsv", sep="\t", index=False)
diff --git a/querynator/report_scripts/create_report.py b/querynator/report_scripts/create_report.py
index b3e26ca..47832fa 100644
--- a/querynator/report_scripts/create_report.py
+++ b/querynator/report_scripts/create_report.py
@@ -705,7 +705,7 @@ def create_report_htmls(outdir, basename, civic_path, logger):
 
     # read in files
     vep_civic_cgi_merge = pd.read_csv(f"{outdir}/combined_files/civic_cgi_vep.tsv", sep="\t")
-    biomarkers_df = pd.read_csv(f"{outdir}/combined_files/biomarkers_linked.tsv", sep="\t")
+    biomarkers_df = pd.read_csv(f"{outdir}/combined_files/biomarkers_linked_filtered.tsv", sep="\t")
     metadata_civic = f"{civic_path}/metadata.txt"  # read reference genome from metadata file
     # get path to save individual reports
     report_path = f"{os.path.abspath(outdir)}/report/variant_reports"
diff --git a/setup.py b/setup.py
index af65539..7b238b9 100644
--- a/setup.py
+++ b/setup.py
@@ -4,7 +4,7 @@
 
 from setuptools import find_packages, setup
 
-VERSION = "0.5.4"
+VERSION = "0.5.5"
 
 with open("README.rst") as readme_file:
     readme = readme_file.read()