Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
NPHP4	261734	broad.mit.edu	37	1	5965822	5965822	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:5965822C>T	uc001alq.2	-	13	1901	c.1633G>A	c.(1633-1635)Ggt>Agt	p.G545S	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	545					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGAGATACCGGCCTCCAAC	0.582												
PUM1	9698	broad.mit.edu	37	1	31479941	31479941	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:31479941C>G	uc001bsi.1	-	3	554	c.441G>C	c.(439-441)ttG>ttC	p.L147F	PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	147					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTTTACCTGGCAAGAGCTGCT	0.393												
IQCC	55721	broad.mit.edu	37	1	32671870	32671870	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:32671870G>A	uc009vua.2	+	1	445	c.398G>A	c.(397-399)cGc>cAc	p.R133H	IQCC_uc001bum.2_Missense_Mutation_p.R53H|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank	NM_001160042	NP_001153514	Q4KMZ1	IQCC_HUMAN	Homo sapiens IQ motif containing C (IQCC), transcript variant 1, mRNA.	53										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGAGGGCCGCATTCCCAGG	0.612												
POLR3C	10623	broad.mit.edu	37	1	145608488	145608488	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:145608488C>T	uc001eog.3	-	2	401	c.358G>A	c.(358-360)Gtt>Att	p.V120I	RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.V107I|POLR3C_uc009wix.3_Missense_Mutation_p.V107I	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	107				SA -> CT (in Ref. 1; AAB63675).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			AGCTCCTCAACAATCAGCTCT	0.493												
C1orf129	80133	broad.mit.edu	37	1	170961347	170961347	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:170961347C>T	uc010plz.2	+	11	1225	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	C1orf129_uc001ghg.3_Silent_p.S357S|C1orf129_uc009wvy.3_Silent_p.S164S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	357							binding	p.A356V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAGGCGAGCGTGGCCCCTC	0.493												
RYR2	6262	broad.mit.edu	37	1	237604756	237604756	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:237604756C>T	uc001hyl.1	+	12	1263	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	381	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S379S(1)|p.V380V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGTGAAATCCGTGAGAATGG	0.348												
PLD5	200150	broad.mit.edu	37	1	242383388	242383388	+	Missense_Mutation	SNP	C	C	T	rs140243407	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:242383388C>T	uc001hzn.2	-	5	864	c.637G>A	c.(637-639)Gct>Act	p.A213T	PLD5_uc021pll.1_Missense_Mutation_p.A121T|PLD5_uc001hzl.4_Missense_Mutation_p.A151T|PLD5_uc001hzm.4_Missense_Mutation_p.A5T|PLD5_uc001hzo.2_Missense_Mutation_p.A121T	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	213						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGTTGTAAGCGGTCATGTTC	0.577												
OR2B11	127623	broad.mit.edu	37	1	247614785	247614785	+	Missense_Mutation	SNP	G	G	A	rs149375684	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:247614785G>A	uc010pyx.2	-	0	500	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T167M(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAATTGCACCGTCAGGACCAC	0.592												
ADAMTS14	140766	broad.mit.edu	37	10	72517795	72517795	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:72517795C>T	uc001jrg.3	+	19	3024	c.3024C>T	c.(3022-3024)tgC>tgT	p.C1008C	ADAMTS14_uc001jrh.3_Silent_p.C1005C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1005	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGGCATTGCGAGGGGGATA	0.667												
EIF3A	8661	broad.mit.edu	37	10	120801816	120801816	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:120801816C>G	uc001ldu.3	-	18	3362	c.3216G>C	c.(3214-3216)ggG>ggC	p.G1072G	EIF3A_uc010qsu.2_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1072	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATCATCCAACCCTCGCCTGG	0.637												
DHX32	55760	broad.mit.edu	37	10	127527726	127527726	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:127527726G>C	uc001ljf.1	-	8	2216	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc001ljc.4_Intron|BCCIP_uc010quj.2_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	575						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAGTTGAGGAAGTAATCAC	0.453												
ELF5	2001	broad.mit.edu	37	11	34515184	34515184	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:34515184C>T	uc001mvo.1	-	2	457	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	ELF5_uc021qft.1_Intron|ELF5_uc001mvp.2_Missense_Mutation_p.C66Y|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Missense_Mutation_p.C66Y	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	76	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTGGTCGCAGCAGAACTGGAG	0.527											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR5D13	390142	broad.mit.edu	37	11	55541628	55541628	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55541628A>T	uc010ril.2	+	0	715	c.715A>T	c.(715-717)Act>Tct	p.T239S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCGCCAGAAAACTTTCTCCAC	0.418												
OR5L2	26338	broad.mit.edu	37	11	55594866	55594866	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55594866C>A	uc001nhy.1	+	0	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTCCACACCCCCGTGTACTT	0.468										HNSCC(27;0.073)		
OR5W2	390148	broad.mit.edu	37	11	55681471	55681471	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55681471C>G	uc010rir.2	-	0	588	c.588G>C	c.(586-588)gaG>gaC	p.E196D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAACACTAACTCATTGACCT	0.383												
OR9G9	504191	broad.mit.edu	37	11	56468275	56468275	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468275A>T	uc010rjn.2	+	0	412	c.412A>T	c.(412-414)Aag>Tag	p.K138*	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CATGTCCATAAAGCTGTGTGC	0.493												
OR9G9	504191	broad.mit.edu	37	11	56468515	56468515	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468515C>A	uc010rjn.2	+	0	652	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GGCCTCCTACCTCTTTATCAT	0.532												
HTR3B	9177	broad.mit.edu	37	11	113815368	113815368	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:113815368C>G	uc001pok.3	+	7	1119	c.981C>G	c.(979-981)ctC>ctG	p.L327L	HTR3B_uc001pol.3_Silent_p.L316L	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	327					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCAAATTCCTCCATGATGAGC	0.557												
MAP3K12	7786	broad.mit.edu	37	12	53875972	53875972	+	Missense_Mutation	SNP	C	C	T	rs149876591		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:53875972C>T	uc001sdn.2	-	12	2604	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	MAP3K12_uc001sdm.2_Missense_Mutation_p.R745H	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	745					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAGTGACTGGCGCATGTTCAG	0.512											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CUX2	23316	broad.mit.edu	37	12	111748125	111748125	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:111748125C>T	uc001tsa.2	+	14	1693	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	513	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTTCTATGGCGCCAAGCCCC	0.741												
TMEM132B	114795	broad.mit.edu	37	12	125834741	125834741	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:125834741C>G	uc001uhe.1	+	1	804	c.796C>G	c.(796-798)Cca>Gca	p.P266A	TMEM132B_uc021rgl.1_Missense_Mutation_p.P156A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	266						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTGGTCTACCCAACCCAAGA	0.577												
TBC1D4	9882	broad.mit.edu	37	13	75933904	75933904	+	Splice_Site	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr13:75933904C>T	uc001vjl.1	-	3	1517	c.1170_splice	c.e3+1	p.Q390_splice	TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	390	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGATACATACCTGAGAACAA	0.313												
SERPINA1	5265	broad.mit.edu	37	14	94849558	94849558	+	Missense_Mutation	SNP	G	G	A	rs140814100		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr14:94849558G>A	uc001ycy.4	-	3	571	c.17C>T	c.(16-18)tCg>tTg	p.S6L	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.S6L|SERPINA1_uc010auy.3_Missense_Mutation_p.S6L|SERPINA1_uc001ycz.4_Missense_Mutation_p.S6L|SERPINA1_uc010auz.3_Missense_Mutation_p.S6L|SERPINA1_uc010ava.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydb.4_Missense_Mutation_p.S6L|SERPINA1_uc010avb.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydc.4_Missense_Mutation_p.S6L|SERPINA1_uc010auw.3_Missense_Mutation_p.S6L|SERPINA1_uc010aux.3_Missense_Mutation_p.S6L|SERPINA1_uc001yda.1_Missense_Mutation_p.S6L	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	6					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GATGCCCCACGAGACAGAAGA	0.612												
SLC12A1	6557	broad.mit.edu	37	15	48566793	48566793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:48566793G>A	uc001zwn.4	+	19	2644	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	SLC12A1_uc010uew.1_Missense_Mutation_p.V616M|SLC12A1_uc010bem.3_Missense_Mutation_p.V810M|SLC12A1_uc001zwq.4_Missense_Mutation_p.V581M|SLC12A1_uc001zwr.4_Missense_Mutation_p.V537M	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	810					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGAGATTGGCGTGGTTATAGT	0.383												
ISLR2	57611	broad.mit.edu	37	15	74425374	74425374	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:74425374C>T	uc002axd.3	+	3	1048	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ISLR2_uc002axe.3_Silent_p.G93G|ISLR2_uc010bjg.3_Silent_p.G93G|ISLR2_uc010bjf.3_Silent_p.G93G|ISLR2_uc021sqe.1_Silent_p.G93G	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	93					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGGAGCCAGGCGCACTGGCCG	0.637												
PCSK6	5046	broad.mit.edu	37	15	101968175	101968175	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:101968175G>T	uc002bxa.2	-	6	1056	c.742C>A	c.(742-744)Cgt>Agt	p.R248S	PCSK6_uc010bpd.3_Missense_Mutation_p.R119S|PCSK6_uc002bwy.3_Missense_Mutation_p.R248S|PCSK6_uc010bpe.3_Missense_Mutation_p.R245S|PCSK6_uc002bxb.2_Missense_Mutation_p.R248S|PCSK6_uc002bxc.1_Missense_Mutation_p.R248S|PCSK6_uc002bxd.1_Missense_Mutation_p.R248S|PCSK6_uc002bxe.3_Missense_Mutation_p.R248S|PCSK6_uc002bxg.1_Missense_Mutation_p.R248S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	249	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCGCACAACGAGTGCCGTGT	0.512												
UBN1	29855	broad.mit.edu	37	16	4909917	4909917	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:4909917G>A	uc002cyb.3	+	5	958	c.619G>A	c.(619-621)Gac>Aac	p.D207N	UBN1_uc010uxw.2_Missense_Mutation_p.D207N|UBN1_uc002cyc.3_Missense_Mutation_p.D207N	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	207	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAAAAAGATGACACTTATGA	0.443												
SLC12A3	6559	broad.mit.edu	37	16	56928513	56928513	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:56928513C>T	uc002ekd.4	+	21	2648	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	SLC12A3_uc010ccm.3_Silent_p.F864F|SLC12A3_uc010ccn.3_Silent_p.F872F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	864					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCGTGTGTTCGTAGGCGGCC	0.582												
CPNE7	27132	broad.mit.edu	37	16	89656340	89656340	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:89656340G>A	uc002fnp.3	+	12	1452	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	CPNE7_uc002fnq.3_Missense_Mutation_p.R366Q	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	441	VWFA.				lipid metabolic process		transporter activity	p.R441G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTTGGAGCCCGGATCCCTCCC	0.622												
TRPV2	51393	broad.mit.edu	37	17	16321183	16321183	+	Splice_Site	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:16321183G>A	uc002gpy.3	+	2	599	c.200_splice	c.e2+1	p.S67_splice	TRPV2_uc002gpz.3_Splice_Site	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	67	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGTGCCAGGTGAGACAGCA	0.617												
EFCAB5	374786	broad.mit.edu	37	17	28434861	28434861	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:28434861G>A	uc002het.3	+	22	4523	c.4331G>A	c.(4330-4332)cGa>cAa	p.R1444Q	EFCAB5_uc010cse.3_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.3_Missense_Mutation_p.R795Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1444							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GATCATTCCCGAACTGAAGTA	0.308												
ERBB2	2064	broad.mit.edu	37	17	37884124	37884124	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:37884124C>A	uc002hso.3	+	26	3833	c.3595C>A	c.(3595-3597)Ccc>Acc	p.P1199T	ERBB2_uc010cwa.3_Missense_Mutation_p.P1184T|ERBB2_uc002hsm.3_Missense_Mutation_p.P1169T|ERBB2_uc002hsp.3_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.3_3'UTR|ERBB2_uc010wek.2_Missense_Mutation_p.P923T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	1199					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTACTTGACACCCCAGGGAGG	0.622		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)		
AOC3	8639	broad.mit.edu	37	17	41003669	41003669	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:41003669G>A	uc002ibv.3	+	0	469	c.309G>A	c.(307-309)ctG>ctA	p.L103L		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	103					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTTGCAGCTGCCTCCCAAGG	0.672												
KIF2B	84643	broad.mit.edu	37	17	51901522	51901522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:51901522delC	uc002iua.2	+	0	1284	c.1128delC	c.(1126-1128)gtcfs	p.V376fs	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	376	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGCAAGTCCTTGAGGATG	0.468												
GALNT1	2589	broad.mit.edu	37	18	33257555	33257555	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:33257555G>A	uc010dmu.3	+	4	368	c.315_splice	c.e4-1	p.G105_splice	GALNT1_uc002kyz.4_Splice_Site_p.G45_splice|GALNT1_uc002kzb.3_Splice_Site_p.G105_splice	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	105					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TTGTCTCTAGGTGTAAAACAA	0.383												
PARD6G	84552	broad.mit.edu	37	18	77918374	77918374	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:77918374C>T	uc002lny.3	-	2	577	c.411G>A	c.(409-411)ccG>ccA	p.P137P	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.	137	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGAAGTCGCGCGGGAGGCCGA	0.731												
C3	718	broad.mit.edu	37	19	6680227	6680227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6680227G>T	uc002mfm.3	-	35	4460	c.4398C>A	c.(4396-4398)taC>taA	p.Y1466*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1466					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.Y1466*(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTACATTAAAGTATTGGTGAA	0.542												
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6913826C>T	uc002mfw.3	+	10	1323	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_uc010dvc.3_Missense_Mutation_p.R429W|EMR1_uc010dvb.3_Missense_Mutation_p.R377W|EMR1_uc010xji.2_Missense_Mutation_p.R288W|EMR1_uc010xjj.2_Missense_Mutation_p.R252W	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	429	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498												
GMIP	51291	broad.mit.edu	37	19	19745707	19745707	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:19745707C>T	uc002nnd.3	-	16	1898	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	GMIP_uc010xrb.2_Missense_Mutation_p.R568H|GMIP_uc010xrc.2_Missense_Mutation_p.R565H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	594	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGCTCCACACGGACCCGGGA	0.592												
CD22	933	broad.mit.edu	37	19	35837554	35837554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:35837554G>A	uc010edt.3	+	13	2582	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	CD22_uc010edu.3_Missense_Mutation_p.R745Q|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R656Q|CD22_uc010xst.2_Missense_Mutation_p.R661Q|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	833					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTCGGGGAGCGGCCTCAGGCA	0.547												
SIPA1L3	23094	broad.mit.edu	37	19	38633315	38633315	+	Silent	SNP	G	G	T	rs142547881		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:38633315G>T	uc002ohk.3	+	11	4007	c.3498G>T	c.(3496-3498)tcG>tcT	p.S1166S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCCCGGTTCGGCCACCTACG	0.557											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LGALS13	29124	broad.mit.edu	37	19	40097889	40097889	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:40097889C>T	uc002omb.3	+	3	370	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	110	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TACGCATTTACGGCTTTGTCC	0.463												
RUVBL2	10856	broad.mit.edu	37	19	49507675	49507675	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:49507675G>A	uc002plr.1	+	4	278	c.265_splice	c.e4+1	p.G89_splice	RUVBL2_uc010yab.2_Splice_Site_p.G89_splice|RUVBL2_uc002pls.1_Splice_Site|RUVBL2_uc010emn.1_Splice_Site_p.G44_splice	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	89					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCGCCATGGGTAAGAAACC	0.582												
ZNF534	147658	broad.mit.edu	37	19	52942496	52942496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:52942496C>T	uc002pzk.3	+	3	1889	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Nonsense_Mutation_p.R595*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACACCTTGCGCGACATAGGAA	0.423												
ZSCAN5B	342933	broad.mit.edu	37	19	56701664	56701664	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:56701664C>T	uc010ygh.2	-	3	1020	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	340					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTGACTGACCGGGCCCGCAG	0.542												
RPS5	6193	broad.mit.edu	37	19	58904370	58904370	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:58904370G>T	uc002qsn.3	+	2	208	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S		NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	46					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GGAGAAGTATGCCAAGTACCT	0.557												
CLIP4	79745	broad.mit.edu	37	2	29386734	29386734	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:29386734C>G	uc002rmv.3	+	12	1811	c.1572C>G	c.(1570-1572)ggC>ggG	p.G524G	CLIP4_uc002rmu.3_Silent_p.G524G|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	524	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AACCCCATGGCAAGAATGATG	0.388												
ACTG2	72	broad.mit.edu	37	2	74128551	74128551	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:74128551G>A	uc002sjw.3	+	1	235	c.113G>A	c.(112-114)cGc>cAc	p.R38H	ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010yrn.2_Missense_Mutation_p.R38H|ACTG2_uc010fey.3_Missense_Mutation_p.R38H	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	38					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						ATTGTGGGCCGCCCTCGCCAC	0.637												
CNTNAP5	129684	broad.mit.edu	37	2	125547685	125547685	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:125547685A>T	uc010flu.3	+	17	3323	c.2959A>T	c.(2959-2961)Aat>Tat	p.N987Y	CNTNAP5_uc002tno.3_Missense_Mutation_p.N986Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	986	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGATTGCACCAATTCACCTTA	0.552												
CDCA7	83879	broad.mit.edu	37	2	174231123	174231123	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:174231123G>A	uc002uic.1	+	7	1279	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	CDCA7_uc002uid.1_Missense_Mutation_p.R304H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	304					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTTCGAAACCGTTATGGTGAA	0.557												
OSBPL6	114880	broad.mit.edu	37	2	179238622	179238622	+	Silent	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:179238622T>G	uc002uly.3	+	15	2020	c.1476T>G	c.(1474-1476)ggT>ggG	p.G492G	OSBPL6_uc002ulw.3_Silent_p.G400G|OSBPL6_uc002ulx.3_Silent_p.G467G|OSBPL6_uc010zfe.2_Silent_p.G436G|OSBPL6_uc002ulz.3_Silent_p.G431G|OSBPL6_uc002uma.3_Silent_p.G471G	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	467					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGCAGGCTGGTGAGCAAATCC	0.438												
IRS1	3667	broad.mit.edu	37	2	227661504	227661504	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:227661504T>C	uc021vxn.1	-	0	1951	c.1951A>G	c.(1951-1953)Aga>Gga	p.R651G	IRS1_uc002voh.4_Missense_Mutation_p.R651G	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	651					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGATGGCGTCTGATGGGATTG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF16B	55614	broad.mit.edu	37	20	16407806	16407806	+	Missense_Mutation	SNP	C	C	A	rs76483902		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:16407806C>A	uc002wpg.2	-	14	1714	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	KIF16B_uc010gch.2_Missense_Mutation_p.G519W|KIF16B_uc010gci.2_Missense_Mutation_p.G519W|KIF16B_uc010gcj.2_Missense_Mutation_p.G519W	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	519	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTGGGACCCACTCAGGGGT	0.428												
DIDO1	11083	broad.mit.edu	37	20	61542712	61542712	+	Missense_Mutation	SNP	C	C	T	rs138139875		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:61542712C>T	uc002ydr.2	-	2	565	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	DIDO1_uc002yds.2_Missense_Mutation_p.G85S|DIDO1_uc002ydt.2_Missense_Mutation_p.G85S|DIDO1_uc002ydu.2_Missense_Mutation_p.G85S|DIDO1_uc002ydv.2_Missense_Mutation_p.G85S|DIDO1_uc002ydw.2_Missense_Mutation_p.G85S|DIDO1_uc002ydx.2_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	85					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCTGCCGCGGCGCCGC	0.701												
COL6A1	1291	broad.mit.edu	37	21	47412280	47412280	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr21:47412280A>T	uc002zhu.1	+	17	1342	c.1240A>T	c.(1240-1242)Aac>Tac	p.N414Y		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	414	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ATCCCAGGGGAACCCAGGACC	0.637												
HIRA	7290	broad.mit.edu	37	22	19318996	19318996	+	Silent	SNP	A	A	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:19318996A>G	uc002zpf.1	-	24	3241	c.3021T>C	c.(3019-3021)tgT>tgC	p.C1007C	HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.2_Silent_p.C963C	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	1007	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.C1007F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTGTTCCTGACACTCGGTGA	0.617												
VPREB1	7441	broad.mit.edu	37	22	22599423	22599423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:22599423C>T	uc002zvx.1	+	1	138	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	38	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		AACCACAATCCGCCTCACCTG	0.632												
EOMES	8320	broad.mit.edu	37	3	27761789	27761789	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:27761789G>A	uc003cdy.3	-	1	909	c.909C>T	c.(907-909)aaC>aaT	p.N303N	EOMES_uc003cdx.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	303					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTCCGTTTATGTTGAAGCTCA	0.532												
ZNF197	10168	broad.mit.edu	37	3	44685661	44685661	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:44685661C>G	uc003cnm.3	+	5	3245	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	1013					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTGAGGAATTCTCTTGGCTAC	0.363												
ITIH3	3699	broad.mit.edu	37	3	52840313	52840313	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:52840313C>T	uc003dfv.2	+	17	1983	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	649					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACCAGTGGACGGGGATCCCC	0.582												
EPHA3	2042	broad.mit.edu	37	3	89468496	89468496	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:89468496T>A	uc003dqy.3	+	10	2255	c.2030T>A	c.(2029-2031)tTt>tAt	p.F677Y	EPHA3_uc021xbf.1_Missense_Mutation_p.F677Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	677	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGGACAGTTTGACCACCCC	0.413										TSP Lung(6;0.00050)		
ADCY5	111	broad.mit.edu	37	3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:123166426G>A	uc003egh.2	-	0	967	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	323					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGCGCTGCGTGGCTGCGGC	0.687												
TRH	7200	broad.mit.edu	37	3	129694827	129694827	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:129694827G>A	uc003enc.3	+	1	729	c.168G>A	c.(166-168)cgG>cgA	p.R56R		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	56					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TCTTCCTCCGGGAAAACATCC	0.672												
MBNL1	4154	broad.mit.edu	37	3	152018103	152018103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:152018103delA	uc003ezm.3	+	0	910	c.121delA	c.(121-123)aaafs	p.K41fs	MBNL1_uc003ezh.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	41					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACATCCTTCGAAAAGCTGCCA	0.403												
DGKG	1608	broad.mit.edu	37	3	186015248	186015248	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:186015248T>G	uc003fqa.3	-	4	872	c.335A>C	c.(334-336)aAt>aCt	p.N112T	DGKG_uc003fqb.3_Missense_Mutation_p.N112T|DGKG_uc003fqc.3_Missense_Mutation_p.N112T|DGKG_uc011brx.2_Missense_Mutation_p.N112T	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	112					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGGTGGCATTATCTGCATT	0.458												
TLR6	10333	broad.mit.edu	37	4	38829222	38829222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:38829222G>A	uc010ifg.2	-	1	1994	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TLR6_uc003gtm.3_Missense_Mutation_p.R625W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	625					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCTGCGCCGAGTCTGGGTC	0.512												
UGT2B10	7365	broad.mit.edu	37	4	69696459	69696459	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:69696459C>G	uc003hee.3	+	5	1474	c.1449C>G	c.(1447-1449)acC>acG	p.T483T	UGT2B10_uc011cam.2_Silent_p.T399T	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	483					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACAACCTCACCTGGTTCCAGT	0.483												
PROL1	58503	broad.mit.edu	37	4	71275346	71275346	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:71275346G>T	uc003hfi.3	+	2	475	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTCTTTCCGGGTTATCCAAA	0.398												
AFM	173	broad.mit.edu	37	4	74365895	74365895	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:74365895G>A	uc003hhb.3	+	11	1628	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	533	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTCACGCAGACATGTG	0.393												
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:1593386A>C	uc010itg.1	-	1	151	c.74T>G	c.(73-75)gTg>gGg	p.V25G	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTGGCCATTCACGTGCCTCAG	0.597												
ADAMTS16	170690	broad.mit.edu	37	5	5146486	5146486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:5146486C>T	uc003jdl.3	+	2	557	c.419C>T	c.(418-420)cCg>cTg	p.P140L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	140					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P140L(3)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACTTTACCGCCAGAGGAC	0.522												
RICTOR	253260	broad.mit.edu	37	5	38972038	38972038	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:38972038C>T	uc003jlo.2	-	10	935	c.913G>A	c.(913-915)Gga>Aga	p.G305R	RICTOR_uc003jlp.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	305					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCAGAATTTCCAGGTTTACAT	0.299												
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
ATP10B	23120	broad.mit.edu	37	5	160047524	160047524	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:160047524C>T	uc003lym.1	-	14	3093	c.2246G>A	c.(2245-2247)cGc>cAc	p.R749H	ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.3_Missense_Mutation_p.R307H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	749					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGGCAGGCGCACAGTCAC	0.612												
ALDH5A1	7915	broad.mit.edu	37	6	24502755	24502755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:24502755G>A	uc003nef.3	+	1	387	c.359G>A	c.(358-360)aGg>aAg	p.R120K	ALDH5A1_uc003neg.3_Missense_Mutation_p.R120K	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	120					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TTGCAGGAGAGGAGTTCATTA	0.343												
PTCHD4	442213	broad.mit.edu	37	6	47976593	47976593	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:47976593C>A	uc011dwm.2	-	1	718	c.684G>T	c.(682-684)aaG>aaT	p.K228N	PTCHD4_uc011dwn.2_5'UTR|PTCHD4_uc003ozf.2_Missense_Mutation_p.K228N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	228						integral to membrane	hedgehog receptor activity										GGATGCTGGTCTTATGAAAGT	0.522												
RHAG	6005	broad.mit.edu	37	6	49574864	49574864	+	Silent	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:49574864T>G	uc003ozk.4	-	8	1200	c.1138_splice	c.e8+1	p.G380_splice	RHAG_uc010jzl.3_Splice_Site_p.G380_splice|RHAG_uc010jzm.3_Splice_Site_p.R339_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	380			G -> V (in RHN).		carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TATGCTGACCTGTCATCAGAC	0.398												
GSTA4	2941	broad.mit.edu	37	6	52850344	52850344	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:52850344T>G	uc003pbf.3	-	3	327	c.177A>C	c.(175-177)gaA>gaC	p.E59D	GSTA4_uc003pbd.3_5'UTR	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	59	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	p.E59K(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TCCCGTCAATTTCAACCATGG	0.468												
AMD1	262	broad.mit.edu	37	6	111210086	111210086	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:111210086G>A	uc003puk.1	+	2	546	c.224G>A	c.(223-225)aGa>aAa	p.R75K	AMD1_uc011eay.1_Missense_Mutation_p.R6K|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.R46K|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	75					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTCTCCAAGAGACGTTTCATT	0.393												
CCDC129	223075	broad.mit.edu	37	7	31614192	31614192	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:31614192T>C	uc011kae.2	+	6	524	c.512T>C	c.(511-513)gTg>gCg	p.V171A	CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tcj.1_Missense_Mutation_p.V145A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	145										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATAGATCCAGTGGAGATTCTC	0.443												
NPTX2	4885	broad.mit.edu	37	7	98254242	98254242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:98254242G>A	uc003upl.2	+	2	829	c.652G>A	c.(652-654)Gcc>Acc	p.A218T		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	218					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCAATAGCGCCTTTAAGTC	0.582												
SRRT	51593	broad.mit.edu	37	7	100481735	100481736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:100481735_100481736insG	uc003uwy.2	+	5	899_900	c.632_633insG	c.(631-633)cagfs	p.Q211fs	SRRT_uc010lhl.1_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.Q211fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.Q211fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	211					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGCGTCGGCAGGAGGCCCGGG	0.569												
SLC26A4	5172	broad.mit.edu	37	7	107350617	107350617	+	Silent	SNP	A	A	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:107350617A>G	uc003vep.3	+	18	2432	c.2208A>G	c.(2206-2208)caA>caG	p.Q736Q	SLC26A4_uc011kmb.2_Silent_p.Q323Q|SLC26A4_uc011kmc.2_Silent_p.Q297Q|SLC26A4_uc011kmd.2_Silent_p.Q305Q	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	736					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGAAATCTCAAGAGGGTCAAG	0.363									Pendred syndrome			
SHH	6469	broad.mit.edu	37	7	155599026	155599026	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599026C>T	uc003wmk.1	-	1	677	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	176			Missing (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTGGACTCGTAGTACACC	0.652												
SHH	6469	broad.mit.edu	37	7	155599041	155599041	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599041C>T	uc003wmk.1	-	1	662	c.511G>A	c.(511-513)Gac>Aac	p.D171N	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	171			D -> H (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACACCCAGTCGAAGCCGGCC	0.652												
DLC1	10395	broad.mit.edu	37	8	12952442	12952442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:12952442C>T	uc003wwm.2	-	11	3796	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	DLC1_uc003wwk.1_Missense_Mutation_p.V681I|DLC1_uc003wwl.1_Missense_Mutation_p.V715I|DLC1_uc011kxx.1_Missense_Mutation_p.V607I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1118	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGGACTTGACCCCCGATTTT	0.507												
ELP3	55140	broad.mit.edu	37	8	28017799	28017799	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:28017799G>A	uc003xgo.4	+	12	1459	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	ELP3_uc003xgn.4_Silent_p.L422L|ELP3_uc011las.2_Silent_p.L318L|ELP3_uc011lat.2_Silent_p.L318L|ELP3_uc011laq.2_Silent_p.L365L|ELP3_uc011lar.2_Silent_p.L345L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	437	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAACATTCTTGTCATACGAAG	0.383												
CHD7	55636	broad.mit.edu	37	8	61764695	61764695	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:61764695A>T	uc003xue.3	+	28	6275	c.5783A>T	c.(5782-5784)cAg>cTg	p.Q1928L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1928					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGGCAACAGATGAGGCAA	0.527												
SLCO5A1	81796	broad.mit.edu	37	8	70744582	70744582	+	Silent	SNP	G	G	A	rs145247874		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:70744582G>A	uc003xyl.3	-	1	1034	c.327C>T	c.(325-327)tcC>tcT	p.S109S	SLCO5A1_uc010lzb.3_Silent_p.S109S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	109						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGCCAAGGCGGAGGACACCG	0.622											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RIMS2	9699	broad.mit.edu	37	8	105160868	105160868	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:105160868G>C	uc003yls.3	+	22	3421	c.3180G>C	c.(3178-3180)atG>atC	p.M1060I	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	489					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGACAAATGGGCATATCAG	0.433										HNSCC(12;0.0054)		
SLC24A2	25769	broad.mit.edu	37	9	19786746	19786746	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:19786746A>C	uc003zoa.2	-	0	272	c.119T>G	c.(118-120)tTa>tGa	p.L40*	SLC24A2_uc003zob.2_Nonsense_Mutation_p.L40*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	40					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.V39V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAAAAGGCCTAAGACTCGAAT	0.438												
TESK1	7016	broad.mit.edu	37	9	35609460	35609460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:35609460G>A	uc003zxa.3	+	9	1938	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*	TESK1_uc010mks.3_Nonsense_Mutation_p.W374*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	534					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCCCTGGAACCGGGCCC	0.692												
P2RY4	5030	broad.mit.edu	37	X	69479145	69479145	+	Silent	SNP	G	G	A	rs146718292	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chrX:69479145G>A	uc004dxz.1	-	0	510	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	110					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAGCGGACGAACTTGCAGA	0.542