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
CHD5	26038	broad.mit.edu	37	1	6172293	6172293	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:6172293T>G	uc001amb.2	-	34	5158	c.5047A>C	c.(5047-5049)Aat>Cat	p.N1683H	CHD5_uc001alz.2_Missense_Mutation_p.N540H|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1683					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGTCACCATTTTGCTGTGTT	0.512												
AIM1L	55057	broad.mit.edu	37	1	26658052	26658052	+	Silent	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:26658052G>A	uc001bmd.4	-	14	4392	c.4242C>T	c.(4240-4242)ggC>ggT	p.G1414G		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	369							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567												
WDR65	149465	broad.mit.edu	37	1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:43663300G>A	uc021omk.1	+	6	1345	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R389H|WDR65_uc001ciq.2_Missense_Mutation_p.R400H|WDR65_uc001cip.2_Missense_Mutation_p.R400H	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	400								p.R400H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458												
PTPRF	5792	broad.mit.edu	37	1	44069848	44069848	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:44069848C>T	uc001cjr.3	+	15	3365	c.3025C>T	c.(3025-3027)Ccg>Tcg	p.P1009S	PTPRF_uc001cjs.3_Missense_Mutation_p.P1000S|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.P569S|PTPRF_uc001cjv.3_Missense_Mutation_p.P469S|PTPRF_uc001cjw.3_Missense_Mutation_p.P235S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1009					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGGACCATGCCGGTGGAGCA	0.617												
TCHH	7062	broad.mit.edu	37	1	152080572	152080572	+	Missense_Mutation	SNP	T	T	A	rs71585886		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152080572T>A	uc009wne.1	-	2	5393	c.5121A>T	c.(5119-5121)agA>agT	p.R1707S	TCHH_uc001ezp.2_Missense_Mutation_p.R1707S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1707	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGAATTTTCTCTCTCGTT	0.587												
TCHH	7062	broad.mit.edu	37	1	152081047	152081047	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152081047C>T	uc009wne.1	-	2	4918	c.4646G>A	c.(4645-4647)cGg>cAg	p.R1549Q	TCHH_uc001ezp.2_Missense_Mutation_p.R1549Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1549	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACGCCGCTGTTGCCC	0.607												
OR2M2	391194	broad.mit.edu	37	1	248344068	248344068	+	Missense_Mutation	SNP	C	C	T	rs150685608		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:248344068C>T	uc010pzf.2	+	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.517												
C10orf113	387638	broad.mit.edu	37	10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:21435284G>A	uc001iqm.3	-	0	205	c.154C>T	c.(154-156)Cca>Tca	p.P52S	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.P52S	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443												
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:89711899C>T	uc001kfb.3	+	5	1549	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173C(69)|p.0?(37)|p.R173H(24)|p.R55fs*1(5)|p.?(4)|p.R173fs*10(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R173R(1)|p.R172W(1)|p.R172R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
DNMBP	23268	broad.mit.edu	37	10	101654794	101654794	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:101654794A>G	uc001kqj.2	-	10	3157	c.3065T>C	c.(3064-3066)gTa>gCa	p.V1022A	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.V310A|DNMBP_uc001kqh.2_Missense_Mutation_p.V654A	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1022	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTCTTCAAATACTTCATCTTT	0.353												
SORCS1	114815	broad.mit.edu	37	10	108389034	108389034	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:108389034C>T	uc001kyl.3	-	18	2770	c.2588G>A	c.(2587-2589)gGc>gAc	p.G863D	SORCS1_uc021pxw.1_Missense_Mutation_p.G863D|SORCS1_uc009xxs.3_Missense_Mutation_p.G863D|SORCS1_uc001kym.3_Missense_Mutation_p.G863D|SORCS1_uc001kyn.2_Missense_Mutation_p.G863D|SORCS1_uc001kyo.3_Missense_Mutation_p.G863D	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	863	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.G863D(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGGAAAATGCCCACGTTCTG	0.483												
RAB11FIP2	22841	broad.mit.edu	37	10	119798511	119798511	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:119798511T>C	uc001ldj.2	-	2	1677	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	RAB11FIP2_uc009xyz.2_Missense_Mutation_p.R413G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	413					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTGAAGCCCTGAATTTTGCT	0.343												
GRM5	2915	broad.mit.edu	37	11	88780659	88780659	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr11:88780659G>A	uc001pcq.3	-	0	582	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	GRM5_uc009yvm.3_Missense_Mutation_p.R128C|GRM5_uc009yvn.2_Missense_Mutation_p.R128C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	128					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R128H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCCACACAGCGTACCAAGCCT	0.522												
ANO4	121601	broad.mit.edu	37	12	101480464	101480464	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr12:101480464C>T	uc010svm.1	+	16	2135	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	ANO4_uc001thw.2_Silent_p.F486F|ANO4_uc001thx.2_Silent_p.F521F|ANO4_uc001thy.2_Silent_p.F41F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	521						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCCGTGTTCGGGATCGTCA	0.517										HNSCC(74;0.22)		
EML1	2009	broad.mit.edu	37	14	100363508	100363508	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr14:100363508G>A	uc001ygr.3	+	7	830	c.761G>A	c.(760-762)cGt>cAt	p.R254H	EML1_uc010avt.1_Missense_Mutation_p.R222H|EML1_uc010tww.2_Missense_Mutation_p.R223H|EML1_uc001ygq.3_Missense_Mutation_p.R254H|EML1_uc001ygs.3_Missense_Mutation_p.R235H	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	235						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CGAGACTGCCGTAACAACCTG	0.468												
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr15:78403609C>T	uc010ums.1	-	2	417	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_uc002bdb.1_Silent_p.S32S|CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	32							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612												
ACSM2B	348158	broad.mit.edu	37	16	20570756	20570756	+	Missense_Mutation	SNP	A	A	G	rs74479331		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr16:20570756A>G	uc002dhj.4	-	3	401	c.191T>C	c.(190-192)cTc>cCc	p.L64P	ACSM2B_uc002dhk.4_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.L64P(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCTTGGGAGTCGCTTGCC	0.512												
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Frame_Shift_Del	DEL	G	G	-	rs28934574		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:7577094delG	uc002gim.2	-	7	1038	c.844delC	c.(844-846)cggfs	p.R282fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
KRTAP4-8	728224	broad.mit.edu	37	17	39254021	39254021	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:39254021C>T	uc010wfo.2	-	0	355	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	106	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						cagctggacacacagcagctg	0.672												
SGCA	6442	broad.mit.edu	37	17	48245006	48245006	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:48245006G>A	uc002iqi.3	+	2	257	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.3_Missense_Mutation_p.R74Q|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	74			R -> W (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.P73P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GACCTGCCCCGGTGGCTCCGC	0.657												
ARHGAP28	79822	broad.mit.edu	37	18	6859897	6859897	+	Splice_Site	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr18:6859897G>T	uc002knc.3	+	5	3781	c.570_splice	c.e5+1	p.V190_splice	ARHGAP28_uc002kne.3_Splice_Site_p.V83_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.V65_splice|ARHGAP28_uc002knf.3_Splice_Site_p.V74_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	65					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGACTCTGTGGTAAGTCATCC	0.428												
SIGLEC11	114132	broad.mit.edu	37	19	50462137	50462137	+	Missense_Mutation	SNP	C	C	A	rs142292396	byFrequency	TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:50462137C>A	uc010ybh.2	-	6	1217	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G376C	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.R376S(1)|p.R376R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGGATGTGCCGTTCCCGAGG	0.662												
KLK15	55554	broad.mit.edu	37	19	51329907	51329907	+	Silent	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:51329907G>A	uc002ptl.3	-	3	619	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Intron|KLK15_uc002pto.3_Silent_p.G195G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Intron|KLK15_uc010eod.3_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	196	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCCCTCCGCGCCTGCACACA	0.582												
BRSK1	84446	broad.mit.edu	37	19	55814187	55814187	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:55814187G>C	uc002qkf.3	+	11	1155	c.1028G>C	c.(1027-1029)gGc>gCc	p.G343A	BRSK1_uc021vbs.1_Missense_Mutation_p.G327A|BRSK1_uc002qkg.3_Missense_Mutation_p.G327A|BRSK1_uc002qkh.3_Missense_Mutation_p.G22A|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	327	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.G327D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCATCACTGGGCTGCTTCAGG	0.682												
C2orf89	129293	broad.mit.edu	37	2	85051138	85051138	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:85051138G>A	uc010ysl.2	-	5	1362	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	C2orf89_uc002sou.4_Missense_Mutation_p.R376W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	425						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCTGTGACCGCCTCCGCTTC	0.652												
SCN9A	6335	broad.mit.edu	37	2	167055444	167055444	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:167055444C>T	uc010fpl.3	-	26	6013	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1902	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAGCGGTAACGTCTATAAGC	0.363												
PDE1A	5136	broad.mit.edu	37	2	183066517	183066517	+	Splice_Site	SNP	C	C	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:183066517C>G	uc002uos.3	-	10	1035	c.951_splice	c.e10-1	p.R317_splice	PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.3_Splice_Site_p.R301_splice|PDE1A_uc002uou.3_Splice_Site_p.R283_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	317	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCGAAGATCCCTGCAGAGTCA	0.363												
PASK	23178	broad.mit.edu	37	2	242054741	242054741	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:242054741C>T	uc002wao.2	-	12	3293	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	PASK_uc010zol.2_Missense_Mutation_p.A868T|PASK_uc010zom.2_Missense_Mutation_p.A1019T|PASK_uc010fzl.2_Missense_Mutation_p.A1054T|PASK_uc010zon.2_Missense_Mutation_p.A835T|PASK_uc021vzf.1_Missense_Mutation_p.A1054T|PASK_uc002wap.3_Missense_Mutation_p.A597T|PASK_uc002waq.3_Missense_Mutation_p.A1054T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1054	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATAGAATTGCGATCTCTAAA	0.433												
TM9SF4	9777	broad.mit.edu	37	20	30745712	30745712	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:30745712G>A	uc002wxj.2	+	13	1680	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	TM9SF4_uc010zts.1_Missense_Mutation_p.R389H|TM9SF4_uc002wxk.2_Missense_Mutation_p.R465H	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	482						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AACCCTGTGCGCACCAACCAG	0.587												
MC3R	4159	broad.mit.edu	37	20	54824428	54824428	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:54824428G>A	uc002xxb.2	+	0	641	c.529G>A	c.(529-531)Gtg>Atg	p.V177M		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	214					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTCTGTGGCGTGGTGTTCAT	0.562												
HUNK	30811	broad.mit.edu	37	21	33370854	33370854	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr21:33370854G>A	uc002yph.3	+	10	1862	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	501					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTTGGCTGCCGCAATATTTTC	0.527												
OR5H6	79295	broad.mit.edu	37	3	97983628	97983628	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr3:97983628G>C	uc003dsi.1	+	0	500	c.500G>C	c.(499-501)gGt>gCt	p.G167A		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCATTTATAGGTGGCCTTCTT	0.348												
REST	5978	broad.mit.edu	37	4	57797807	57797807	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:57797807C>T	uc003hch.3	+	3	3130	c.2783C>T	c.(2782-2784)aCg>aTg	p.T928M	REST_uc003hci.3_Missense_Mutation_p.T928M|REST_uc010ihf.3_Missense_Mutation_p.T602M	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	928					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTTGAATACGCCAGAGGGT	0.413												
NDST4	64579	broad.mit.edu	37	4	115997685	115997685	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:115997685T>A	uc003ibu.3	-	1	1187	c.508A>T	c.(508-510)Aac>Tac	p.N170Y	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	170	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTAAGCTGTTCTCATTGGCT	0.368												
KLKB1	3818	broad.mit.edu	37	4	187173239	187173239	+	Missense_Mutation	SNP	C	C	A	rs61733605		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:187173239C>A	uc003iyy.3	+	10	1284	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	KLKB1_uc011clc.2_Missense_Mutation_p.Q203K|KLKB1_uc011cld.2_Missense_Mutation_p.Q367K	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	405	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTGGCCCTGGCAGGTGAGCCT	0.542												
RAB3C	115827	broad.mit.edu	37	5	57913622	57913622	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:57913622C>T	uc003jrp.3	+	1	274	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CATCTGCATTCGTCAGCACAG	0.383												
MAP1B	4131	broad.mit.edu	37	5	71493036	71493036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:71493036delA	uc003kbw.4	+	4	4095	c.3854delA	c.(3853-3855)gagfs	p.E1285fs	MAP1B_uc010iyw.1_Frame_Shift_Del_p.E1302fs|MAP1B_uc010iyx.1_Frame_Shift_Del_p.E1159fs|MAP1B_uc010iyy.1_Frame_Shift_Del_p.E1159fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1285						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACGCCCAATGAGATTAAAGTC	0.527												
SV2C	22987	broad.mit.edu	37	5	75428035	75428035	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:75428035C>A	uc003kei.1	+	1	594	c.460C>A	c.(460-462)Ctt>Att	p.L154I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	154					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCAGTGGGCCCTTTTCTTCGT	0.527												
GABRA1	2554	broad.mit.edu	37	5	161324208	161324208	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:161324208C>T	uc010jiw.3	+	10	1619	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	GABRA1_uc010jix.3_Missense_Mutation_p.P384L|GABRA1_uc010jiy.3_Missense_Mutation_p.P384L|GABRA1_uc003lyx.4_Missense_Mutation_p.P384L|GABRA1_uc010jiz.3_Missense_Mutation_p.P384L|GABRA1_uc010jja.3_Missense_Mutation_p.P384L|GABRA1_uc010jjb.3_Missense_Mutation_p.P384L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	384					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P384Q(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGGGGCGACCCGGGCTTAGCC	0.458												
PKHD1	5314	broad.mit.edu	37	6	51910930	51910930	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:51910930C>T	uc003pah.1	-	23	2740	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	PKHD1_uc003pai.3_Missense_Mutation_p.D822N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	822					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGAAGTCATCGGCATTATTC	0.443												
EZR	7430	broad.mit.edu	37	6	159192358	159192358	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:159192358G>A	uc003qrt.4	-	7	1092	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	EZR_uc011efr.2_5'Flank|EZR_uc011efs.2_Missense_Mutation_p.R261C|EZR_uc003qru.4_Missense_Mutation_p.R293C	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	293	FERM.|Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGCGGCGCATATACAAC	0.572			T	ROS1	NSCLC							
FAM126A	84668	broad.mit.edu	37	7	22985627	22985627	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:22985627G>A	uc003svm.4	-	10	1402	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FAM126A_uc003svn.4_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	383						cytoplasm|membrane	signal transducer activity	p.R383Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTCCTGACCGTCTGTGGTTC	0.438												
AMPH	273	broad.mit.edu	37	7	38516566	38516566	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:38516566G>A	uc003tgu.3	-	5	616	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	AMPH_uc003tgv.3_Missense_Mutation_p.R134C	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	134	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGGCGATGCGATTCTGTCAA	0.522												
ABCA13	154664	broad.mit.edu	37	7	48287865	48287865	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:48287865G>T	uc003toq.2	+	13	1713	c.1689G>T	c.(1687-1689)tgG>tgT	p.W563C	ABCA13_uc010kyr.2_Missense_Mutation_p.W66C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	563					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATTACTTGGCACAAAAATA	0.388												
TRPV6	55503	broad.mit.edu	37	7	142572296	142572296	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:142572296T>A	uc003wbx.2	-	10	1629	c.1400A>T	c.(1399-1401)tAc>tTc	p.Y467F	TRPV6_uc003wbw.1_Missense_Mutation_p.Y253F|TRPV6_uc010lou.1_Missense_Mutation_p.Y338F	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	467					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCGGGCGAAGTACATGACGTT	0.582												
ARHGEF5	7984	broad.mit.edu	37	7	144062310	144062310	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:144062310G>A	uc003wel.3	+	1	2666	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	ARHGEF5_uc003wek.3_Missense_Mutation_p.E850K|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	850					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCTCCCACCGAACCACCCCC	0.587												
ZNF786	136051	broad.mit.edu	37	7	148768162	148768162	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:148768162C>T	uc003wfh.2	-	3	1839	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	ZNF786_uc011kuk.1_Missense_Mutation_p.G531R|ZNF786_uc003wfi.2_Missense_Mutation_p.G482R	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACACTCCCCGCACGAGAAC	0.632												
HTR5A	3361	broad.mit.edu	37	7	154875908	154875908	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:154875908G>A	uc003wlu.1	+	1	849	c.785G>A	c.(784-786)cGc>cAc	p.R262H		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	262			R -> C (in a colorectal cancer sample; somatic mutation).			integral to plasma membrane	serotonin receptor activity	p.R262C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCACGGTCCGCCACGCCACC	0.607												
TEX15	56154	broad.mit.edu	37	8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:30701172G>A	uc003xil.3	-	0	5362	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1788										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343												
TRIM55	84675	broad.mit.edu	37	8	67040581	67040581	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:67040581G>T	uc003xvv.3	+	1	437	c.211G>T	c.(211-213)Gca>Tca	p.A71S	TRIM55_uc003xvu.3_Missense_Mutation_p.A71S|TRIM55_uc003xvw.3_Missense_Mutation_p.A71S|TRIM55_uc003xvx.3_Missense_Mutation_p.A71S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	71						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TACCACCATGGCATCAGGGGG	0.493												
ZHX2	22882	broad.mit.edu	37	8	123965254	123965254	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:123965254A>C	uc022bag.1	+	0	1504	c.1504A>C	c.(1504-1506)Acc>Ccc	p.T502P	ZHX2_uc003ypk.1_Missense_Mutation_p.T502P	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	502						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGTCCACATCACCAGCGAATC	0.572												
FER1L6	654463	broad.mit.edu	37	8	125110086	125110086	+	Silent	SNP	C	C	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:125110086C>A	uc003yqw.3	+	36	5051	c.4845C>A	c.(4843-4845)atC>atA	p.I1615I	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1615	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGAGAATATCTTCACAGGCC	0.408												
RAD23B	5887	broad.mit.edu	37	9	110084381	110084383	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:110084381_110084383delACA	uc004bde.3	+	6	1193_1195	c.799_801delACA	c.(799-801)acadel	p.T269del	RAD23B_uc011lwa.2_In_Frame_Del_p.T269del|RAD23B_uc022blj.1_In_Frame_Del_p.T197del|RAD23B_uc011lwb.2_In_Frame_Del_p.T248del	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	269	Poly-Thr.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCAACAACTACAACAACAAGTT	0.468								Direct reversal of damage;Nucleotide excision repair (NER)				
PTPN3	5774	broad.mit.edu	37	9	112153417	112153417	+	Splice_Site	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:112153417C>T	uc004bed.2	-	21	2218	c.2106_splice	c.e21+1	p.N702_splice	PTPN3_uc004beb.2_Splice_Site_p.N571_splice|PTPN3_uc004bec.2_Splice_Site_p.N526_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.N657_splice|PTPN3_uc011lwh.1_Splice_Site_p.N548_splice|PTPN3_uc011lwd.1_Splice_Site_p.N170_splice|PTPN3_uc011lwe.1_Splice_Site_p.N415_splice|PTPN3_uc011lwf.1_Splice_Site_p.N370_splice	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	702	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTAACTTACGTTCACGTAA	0.458												
ARSF	416	broad.mit.edu	37	X	2994636	2994636	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:2994636A>C	uc022brz.1	+	3	345	c.209A>C	c.(208-210)cAg>cCg	p.Q70P	ARSF_uc004cre.2_Missense_Mutation_p.Q70P|ARSF_uc004crf.2_Missense_Mutation_p.Q70P	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	70						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGACTGACTCAGCACATCTCT	0.637												
PHKA1	5255	broad.mit.edu	37	X	71821869	71821869	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:71821869C>T	uc004eax.4	-	27	3345	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H	PHKA1_uc004eay.4_Intron|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	1015					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1015C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGACAGTCTACGAAATTCCAC	0.358												
