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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCA12	26154	broad.mit.edu	37	2	215890474	215890474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:215890474G>A	ENST00000272895.7	-	11	1429	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.R86*|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	404					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.R404*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTTAAATCGTATTGTGGAC	0.348000													14	131					0	0	0.435327	0	0
ABHD2	11057	broad.mit.edu	37	15	89736470	89736470	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89736470A>G	ENST00000352732.5	+	10	1521	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	334						integral to membrane	carboxylesterase activity	p.Y334C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGATTTATGTTCCTCTC	0.408000													33	123					0	0	0.750413	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417068	105417068	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:105417068C>G	ENST00000333244.5	-	7	4839	c.4720G>C	c.(4720-4722)Ggg>Cgg	p.G1574R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1574						nucleus		p.G1574R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGGTGCCCTTTGAGGCCG	0.607000													10	657					0	0	0.411799	0	0
GFI1B	8328	broad.mit.edu	37	9	135866396	135866396	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:135866396G>A	ENST00000339463.3	+	11	1771	c.952G>A	c.(952-954)Gac>Aac	p.D318N	GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	318	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.D318N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCGCAAGGTGGACCTGCGGCG	0.652000													35	128					0	0	0.796494	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530234	80530234	+	Silent	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:80530234C>A	ENST00000295057.3	-	2	1367	c.711G>T	c.(709-711)tcG>tcT	p.S237S	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S237S|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	237						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.S237S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCAGGCAGAGCGAGTGCAGGG	0.577000										HNSCC(69;0.2)			4	158					0.00024832	0.000269207	0.150653	1	0
POTED	317754	broad.mit.edu	37	21	15011886	15011886	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr21:15011886G>A	ENST00000299443.5	+	10	1512	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	487						plasma membrane		p.G487E(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAACACTGGAATATCACAA	0.323000													3	66					0	0	0.307466	0	0
MYL1	4632	broad.mit.edu	37	2	211179711	211179711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:211179711G>A	ENST00000352451.3	-	1	203	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	19					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	p.A19V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		cggtgccggggctggggcAGC	0.502000													8	91					0	0	0.387290	0	0
IGLJ2	0	broad.mit.edu	37	22	23241829	23241829	+	RNA	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:23241829G>A	ENST00000390322.2	+	0	169																											CAAGCTGACCGTCCTAGGTGA	0.547000													7	95					0	0	0.307466	0	0
PCDHA10	0	broad.mit.edu	37	5	140237082	140237082	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140237082G>A	ENST00000307360.5	+	1	1449	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1												p.A483A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662000													6	210					0	0	0.248553	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457916	45457916	+	RNA	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:45457916C>T	ENST00000548424.1	+	0	448																											ATCCACTTTGCTGACGAGGGG	0.433000													4	151					0	0	0.150653	0	0
ZNF835	90485	broad.mit.edu	37	19	57175472	57175472	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:57175472G>A	ENST00000537055.2	-	2	1326	c.1095C>T	c.(1093-1095)caC>caT	p.H365H		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.H387H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCCGCAGTCGTGGCAGGGGT	0.701000													4	39					0	0	0.184627	0	0
TDRD1	56165	broad.mit.edu	37	10	115986961	115986961	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:115986961A>C	ENST00000251864.2	+	23	3459	c.3306A>C	c.(3304-3306)aaA>aaC	p.K1102N	TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1102					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K1102N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGTTGAGAAATGTTCTGAGA	0.343000													72	130					0	0	0.870114	0	0
OR2T33	391195	broad.mit.edu	37	1	248437020	248437020	+	Missense_Mutation	SNP	C	C	T	rs138653777		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:248437020C>T	ENST00000318021.2	-	1	118	c.97G>A	c.(97-99)Gtt>Att	p.V33I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-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)			GAGGTCAAAACGATACTCAGA	0.478000													5	171					0	0	0.307466	0	0
NALCN	259232	broad.mit.edu	37	13	101944634	101944634	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr13:101944634G>A	ENST00000251127.6	-	8	964	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	NALCN_ENST00000376196.3_Missense_Mutation_p.R295C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	295						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R295C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAACGCCAACGGGGAAAGCTG	0.468000													8	64					0	0	0.278610	0	0
SORBS1	10580	broad.mit.edu	37	10	97192294	97192294	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:97192294A>T	ENST00000371247.2	-	6	401	c.212T>A	c.(211-213)gTg>gAg	p.V71E	SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000361941.3_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	71					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.V71E(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCGGAGAGTCACCGCTCCCTT	0.517000													4	128					0	0	0.150653	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890815	31890815	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr20:31890815C>A	ENST00000253354.1	+	11	1236	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	359						extracellular space	lipid binding	p.Q359K(1)									CAAGGTGGCCCAACTGATCGT	0.532000													23	76					1.64293e-13	1.88693e-13	0.654019	1	0
COL17A1	1308	broad.mit.edu	37	10	105798243	105798243	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:105798243G>A	ENST00000353479.5	-	45	3281	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P	COL17A1_ENST00000369733.3_Silent_p.P952P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	997	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P997P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCCAGGGGGCCCTGGCG	0.602000													15	340					0	0	0.457914	0	0
ARPP21	10777	broad.mit.edu	37	3	35785388	35785388	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr3:35785388C>T	ENST00000187397.4	+	18	2419	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	ARPP21_ENST00000337271.5_Missense_Mutation_p.R636W|ARPP21_ENST00000444190.1_Missense_Mutation_p.R636W|ARPP21_ENST00000417925.1_Missense_Mutation_p.R656W|ARPP21_ENST00000458225.1_Missense_Mutation_p.R656W	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	655	Gln-rich.					cytoplasm	nucleic acid binding	p.R655W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAACAGTACCGGCCCATGGC	0.493000													5	193					0	0	0.184627	0	0
ZNF783	100289678	broad.mit.edu	37	7	148979201	148979201	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:148979201T>A	ENST00000434415.1	+	6	1571	c.1408T>A	c.(1408-1410)Tac>Aac	p.Y470N	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	470					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Y470N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGCCTGCCCCTACTGCGGCAA	0.706000													7	41					0	0	0.307466	0	0
PLP1	5354	broad.mit.edu	37	X	103045510	103045510	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:103045510G>A	ENST00000418604.1	+	8	1098	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Missense_Mutation_p.R238Q|PLP1_ENST00000303958.2_Missense_Mutation_p.R273Q	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	273					cell death|synaptic transmission	integral to membrane		p.R273Q(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTCATGGGCCGAGGCACCAAG	0.473000													9	153					0	0	0.335167	0	0
S100A7A	338324	broad.mit.edu	37	1	153391728	153391728	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:153391728C>T	ENST00000368729.4	+	3	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A	S100A7A_ENST00000329256.2_Silent_p.A83A|S100A7A_ENST00000368728.2_Silent_p.A83A	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	83	EF-hand 2.					cytoplasm	calcium ion binding	p.A83A(2)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACATAGCCGCAGACTACC	0.522000													6	104					0	0	0.217242	0	0
MSGN1	343930	broad.mit.edu	37	2	17998361	17998361	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:17998361C>A	ENST00000281047.3	+	1	599	c.576C>A	c.(574-576)agC>agA	p.S192R		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	192					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S192R(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCCCAGAGCGCGTGAGCTC	0.547000													6	66					0.0215528	0.0223225	0.217242	1	0
SNX29	92017	broad.mit.edu	37	16	12136844	12136844	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:12136844G>T	ENST00000566228.1	+	5	407	c.338G>T	c.(337-339)gGc>gTc	p.G113V	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding	p.G113V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCAGACGTGGGCCGGGGTCGC	0.652000													4	58					0.00909568	0.0095054	0.150653	1	0
IFNA10	3446	broad.mit.edu	37	9	21206631	21206631	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:21206631C>G	ENST00000357374.2	-	1	511	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	156					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.E156Q(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TATTTCCTCTCTATTAGATAA	0.448000													8	723					0	0	0.278610	0	0
TUBBP5	0	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347	by1000genomes	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191																		p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													5	126					0	0	0.278610	0	0
ACSM3	6296	broad.mit.edu	37	16	20792044	20792044	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:20792044G>C	ENST00000289416.5	+	5	1122	c.647G>C	c.(646-648)aGt>aCt	p.S216T	ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	216					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S216T(1)|p.L303V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGACATGCCAGTGACAGCCAC	0.428000													5	219					0	0	0.184627	0	0
HERPUD1	9709	broad.mit.edu	37	16	56976046	56976046	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:56976046A>G	ENST00000439977.2	+	7	1105	c.908A>G	c.(907-909)cAt>cGt	p.H303R	HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	303						endoplasmic reticulum membrane|integral to membrane	protein binding	p.H302R(1)|p.H303R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGAAGGCATCACGTTGGG	0.478000			T	ERG	prostate								10	263					0	0	0.411799	0	0
KLHL5	51088	broad.mit.edu	37	4	39064620	39064620	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:39064620T>G	ENST00000261425.3	+	2	500	c.348T>G	c.(346-348)agT>agG	p.S116R	KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R|KLHL5_ENST00000504108.1_Missense_Mutation_p.S162R|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	162						cytoplasm|cytoskeleton	actin binding	p.S162R(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGCACTAGTGAAGAAGAAA	0.418000													6	168					0	0	0.217242	0	0
SEZ6L	23544	broad.mit.edu	37	22	26701985	26701985	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:26701985C>T	ENST00000529632.2	+	6	1585	c.1389C>T	c.(1387-1389)cgC>cgT	p.R463R	SEZ6L_ENST00000248933.6_Silent_p.R463R|SEZ6L_ENST00000403121.1_Silent_p.R236R|SEZ6L_ENST00000343706.4_Silent_p.R463R|SEZ6L_ENST00000360929.3_Silent_p.R463R|SEZ6L_ENST00000402979.1_Silent_p.R236R|SEZ6L_ENST00000404234.3_Silent_p.R463R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	463	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.R463R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCATCGGCCGCGTCCTCTCCC	0.567000													5	70					0	0	0.184627	0	0
PER1	5187	broad.mit.edu	37	17	8052022	8052022	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8052022C>A	ENST00000317276.4	-	8	1225	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000354903.5_Missense_Mutation_p.G314W	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	330					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G330W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGGGCCCCATCTGAGACC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					5	203					1.23904e-05	1.35593e-05	0.184627	1	0
HECW1	23072	broad.mit.edu	37	7	43484982	43484982	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:43484982C>T	ENST00000395891.2	+	11	2816	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	HECW1_ENST00000453890.1_Silent_p.D737D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.D737D(2)|p.D716D(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTCGCAAGACGACGAGGAGG	0.652000													76	122					0	0	0.870114	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633677	70633677	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:70633677C>T	ENST00000381269.2	-	2	2216	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R488H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R488H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R488H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R488H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	488					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R488H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCCTCTATGCGGACATTGCT	0.527000													10	295					0	0	0.335167	0	0
PCDH19	57526	broad.mit.edu	37	X	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:99662413G>A	ENST00000373034.4	-	1	2858	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R395*(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607000													7	125					0	0	0.248553	0	0
BACE1	23621	broad.mit.edu	37	11	117186309	117186309	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:117186309C>G	ENST00000313005.6	-	1	663	c.203G>C	c.(202-204)aGg>aCg	p.R68T	BACE1_ENST00000428381.2_Missense_Mutation_p.R68T|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	68					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	p.R68T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGACTTGCCCCTCAGGTTGTC	0.711000													12	31					0	0	0.479597	0	0
ADAM15	8751	broad.mit.edu	37	1	155028577	155028577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:155028577C>T	ENST00000356955.2	+	9	867	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R256*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R266*|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R240*|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R256*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R256*|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R256*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	256	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.R256*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGAATGTACGAGTGGCACT	0.627000													19	137					0	0	0.575678	0	0
SORCS3	22986	broad.mit.edu	37	10	106959827	106959827	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:106959827C>T	ENST00000369701.3	+	15	2307	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	694						integral to membrane	neuropeptide receptor activity	p.R694W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCTTCAGCCGGCATTGCAC	0.532000													7	214					0	0	0.248553	0	0
FAT2	2196	broad.mit.edu	37	5	150928993	150928993	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:150928993T>C	ENST00000261800.5	-	8	4664	c.4652A>G	c.(4651-4653)cAc>cGc	p.H1551R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1551	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.H1551R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGTGGGTGGAGGTTTCC	0.567000													7	94					0	0	0.248553	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								7	143					0	0	0.278610	0	0
TMEM56	148534	broad.mit.edu	37	1	95616924	95616924	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:95616924A>T	ENST00000370203.4	+	5	639	c.348A>T	c.(346-348)aaA>aaT	p.K116N	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	116	TLC.					integral to membrane		p.K116N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTGGTGACAAATTTTTTATAA	0.348000													7	188					0	0	0.248553	0	0
C2orf71	388939	broad.mit.edu	37	2	29296170	29296170	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:29296170G>A	ENST00000331664.5	-	1	957	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	320			R -> C.		response to stimulus|visual perception	photoreceptor outer segment		p.R320C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCAGGAGGCGTTCATCCACA	0.597000													38	246					0	0	0.804634	0	0
OR2A5	393046	broad.mit.edu	37	7	143747902	143747902	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:143747902G>A	ENST00000408906.2	+	1	442	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGTCATCATGAGATGGGGAG	0.512000													7	441					0	0	0.278610	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815106	89815106	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:89815106G>C	ENST00000315948.6	-	3	595	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	151					cell wall macromolecule catabolic process	integral to membrane		p.L151V(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTGTAAGCAAGAGAATCATTA	0.393000													4	197					0	0	0.150653	0	0
MYH1	4619	broad.mit.edu	37	17	10405105	10405105	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:10405105G>T	ENST00000226207.5	-	25	3329	c.3235C>A	c.(3235-3237)Caa>Aaa	p.Q1079K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1079						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.Q1079K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCAAGTTGTTGTTTGTCA	0.343000													11	78					0.000673444	0.000723329	0.361761	1	0
OR6N1	128372	broad.mit.edu	37	1	158736387	158736387	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:158736387A>T	ENST00000335094.2	-	1	105	c.86T>A	c.(85-87)cTc>cAc	p.L29H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L29H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGCAACAAGAGGAAGAGATA	0.502000													4	88					0	0	0.150653	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008837	45008837	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr13:45008837A>G	ENST00000458659.2	-	3	3637	c.3147T>C	c.(3145-3147)ccT>ccC	p.P1049P	TSC22D1_ENST00000261489.2_Silent_p.P120P|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1049					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.P1049P(2)|p.P120P(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GGGTGGTGGCAGGGGGGGAGC	0.642000													6	32					0	0	0.575678	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	108					0	0	0.150653	0	0
DHX34	9704	broad.mit.edu	37	19	47876082	47876082	+	Missense_Mutation	SNP	G	G	A	rs146830596	byFrequency	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:47876082G>A	ENST00000328771.4	+	8	2213	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	622						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.A622T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCCGCAGCGCCCAGAGCAG	0.657000													10	68					0	0	0.361761	0	0
AIM2	9447	broad.mit.edu	37	1	159038445	159038445	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:159038445T>G	ENST00000368130.4	-	3	597	c.309A>C	c.(307-309)caA>caC	p.Q103H	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	103					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.Q103H(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TCATTTCAGCTTGACTTAGTG	0.408000													7	266					0	0	0.278610	0	0
LAMA1	284217	broad.mit.edu	37	18	7034620	7034620	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:7034620C>T	ENST00000389658.3	-	14	2002	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	637	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.V637M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTAACCACGTTTAGGTAC	0.408000													5	205					0	0	0.217242	0	0
CSAG4	0	broad.mit.edu	37	X	151896701	151896701	+	RNA	SNP	G	G	T	rs139874720	by1000genomes	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:151896701G>T	ENST00000361201.4	-	0	239					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						AGTGaaggcaggccagcaggc	0.493000													7	76					0.00198382	0.00211122	0.248553	1	0
EYS	346007	broad.mit.edu	37	6	66205045	66205045	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:66205045T>C	ENST00000503581.1	-	4	796	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000370621.3_Missense_Mutation_p.I87V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	87					response to stimulus|visual perception	extracellular region	calcium ion binding	p.I87V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTACAAGGATATCTCCTAAT	0.363000													7	228					0	0	0.278610	0	0
GABRG1	2565	broad.mit.edu	37	4	46099328	46099328	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:46099328G>A	ENST00000295452.4	-	2	310	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T48M(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTTGTTCACCGTTAAATCCTC	0.343000													14	291					0	0	0.457914	0	0
NKPD1	284353	broad.mit.edu	37	19	45656261	45656261	+	Silent	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:45656261C>A	ENST00000317951.4	-	4	1433	c.1434G>T	c.(1432-1434)acG>acT	p.T478T	NKPD1_ENST00000438936.2_Silent_p.T256T|NKPD1_ENST00000429338.1_Silent_p.T256T|NKPD1_ENST00000589776.1_Silent_p.T256T	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1									p.T256T(1)		endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGGACAGCAGCGTGTTGATGG	0.672000													3	12					0.115264	0.118324	0.115264	1	0
BRD1	23774	broad.mit.edu	37	22	50217746	50217746	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50217746T>C	ENST00000216267.8	-	1	706	c.220A>G	c.(220-222)Aac>Gac	p.N74D	BRD1_ENST00000404760.1_Missense_Mutation_p.N74D|BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	74					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.N74D(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTGTTGCTGTTGCACTCACTC	0.473000													6	200					0	0	0.248553	0	0
MAD1L1	8379	broad.mit.edu	37	7	1855777	1855777	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:1855777G>A	ENST00000406869.1	-	19	2643	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R696C|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R696C|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R604C			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	696					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.R696C(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTGTCCTGGCGCCGCAGGTGC	0.672000													7	105					0	0	0.248553	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693267	69693267	+	Splice_Site	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:69693267G>A	ENST00000265403.7	+	5	1334		c.e5+1		UGT2B10_ENST00000458688.2_Splice_Site	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10						lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.?(4)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGATCCTTCGTGAGTAGAAC	0.383000													12	210					0	0	0.435327	0	0
OR5D18	219438	broad.mit.edu	37	11	55587401	55587401	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:55587401T>C	ENST00000333976.4	+	1	316	c.296T>C	c.(295-297)gTa>gCa	p.V99A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V99A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTAGGATGCGTAGTACAATTC	0.428000													9	502					0	0	0.335167	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971518	34971518	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:34971518G>A	ENST00000242315.3	+	2	305	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	75							calcium ion binding	p.G75S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGTAGTGCCGGCCGCGCAGC	0.652000													67	103					0	0	0.870114	0	0
HTT	3064	broad.mit.edu	37	4	3148562	3148562	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:3148562G>A	ENST00000355072.5	+	25	3327	c.3182G>A	c.(3181-3183)aGc>aAc	p.S1061N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1061					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.S1061N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTAGGAAGAGCTGTACCGTT	0.468000													14	637					0	0	0.435327	0	0
SPRY3	10251	broad.mit.edu	37	X	155003970	155003970	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:155003970T>A	ENST00000302805.2	+	2	868	c.437T>A	c.(436-438)aTc>aAc	p.I146N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	146					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.I146N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACCTCTTCATCTGTGAGGAA	0.612000													7	221					0	0	0.248553	0	0
OR4D6	219983	broad.mit.edu	37	11	59225135	59225135	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:59225135C>G	ENST00000300127.2	+	1	725	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N234K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AGGGGCGGAACAAGGCCCTCT	0.587000													4	149					0	0	0.150653	0	0
TNFSF12	8742	broad.mit.edu	37	17	7460486	7460486	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:7460486G>C	ENST00000293825.6	+	7	832	c.569G>C	c.(568-570)cGc>cCc	p.R190P	TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000462811.1_3'UTR|TNFSF12_ENST00000557233.1_Intron	NM_003809.2	NP_003800.1			tumor necrosis factor (ligand) superfamily, member 12									p.R190H(1)|p.R190P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTGGCCCTGCGCTGCCTGGAG	0.657000													28	45					0	0	0.681144	0	0
AVPR1A	0	broad.mit.edu	37	12	63543828	63543828	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:63543828A>G	ENST00000299178.2	-	1	894	c.789T>C	c.(787-789)ggT>ggC	p.G263G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	263					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G263G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGAAGGCCACACCCGCTTGCT	0.587000													11	273					0	0	0.361761	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423299	47423299	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:47423299G>A	ENST00000404338.3	+	1	1367	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	456	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.R456H(3)									GAAGAGGCCCGTAGTTTTATT	0.413000													4	73					0	0	0.150653	0	0
PDK3	5165	broad.mit.edu	37	X	24516991	24516991	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:24516991C>T	ENST00000441463.2	+	3	294	c.294C>T	c.(292-294)agC>agT	p.S98S	PDK3_ENST00000379162.4_Silent_p.S98S|PDK3_ENST00000493226.1_3'UTR	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	98					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.S98S(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAATAAGAGCCCTGAGGATC	0.323000													31	14					0	0	0.740014	0	0
AK1	203	broad.mit.edu	37	9	130630299	130630299	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:130630299G>A	ENST00000373176.1	-	7	725	c.573C>T	c.(571-573)gaC>gaT	p.D191D	AK1_ENST00000373156.1_Silent_p.D191D|AK1_ENST00000223836.10_Silent_p.D207D|RP11-203J24.9_ENST00000476274.2_RNA	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	191					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	p.D191D(2)		endometrium(1)|prostate(1)	2						ACTTTAGGGCGTCCAGGTGGG	0.667000													10	102					0	0	0.387290	0	0
SPTBN2	6712	broad.mit.edu	37	11	66469126	66469126	+	Silent	SNP	G	G	A	rs144636685		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:66469126G>A	ENST00000533211.1	-	16	3076	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A	SPTBN2_ENST00000529997.1_Silent_p.A915A|SPTBN2_ENST00000309996.2_Silent_p.A915A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	915					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.A915A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTAACTGCTCGGCAATGTCAT	0.572000													7	260					0	0	0.248553	0	0
ZNF208	7757	broad.mit.edu	37	19	22154452	22154452	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.L1000L(2)|p.L1128L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTAAGGATTGAGA	0.373000													4	190					0	0	0.150653	0	0
PCDHGA10	0	broad.mit.edu	37	5	140794395	140794395	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140794395G>A	ENST00000398610.2	+	1	1653	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.S551S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGTCGTTGAGCCTGT	0.597000													10	329					0	0	0.387290	0	0
LMF2	91289	broad.mit.edu	37	22	50941923	50941923	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50941923C>T	ENST00000216080.5	-	14	2114	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	LMF2_ENST00000474879.2_Missense_Mutation_p.R674H|LMF2_ENST00000380796.3_Missense_Mutation_p.R561H			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	674						endoplasmic reticulum membrane|integral to membrane		p.R649H(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTGGCCTGCGCTTCTCCCC	0.662000													6	34					0	0	0.217242	0	0
KCNB2	9312	broad.mit.edu	37	8	73480433	73480433	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:73480433A>T	ENST00000523207.1	+	2	1052	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	155					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E155V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGAGGCGAGAGGCAGAGACT	0.453000													9	185					0	0	0.307466	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717457	13717457	+	Silent	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:13717457G>T	ENST00000609686.1	-	13	2924	c.2715C>A	c.(2713-2715)gcC>gcA	p.A905A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A905A(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCATGTTCTTGGCCGTGCGCA	0.592000													17	326					1.33834e-09	1.52203e-09	0.557998	1	0
RSAD1	55316	broad.mit.edu	37	17	48557076	48557076	+	Silent	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:48557076T>C	ENST00000258955.2	+	2	307	c.222T>C	c.(220-222)tgT>tgC	p.C74C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	74					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	p.C74C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCAGAAGTGTCTGGTGACCG	0.597000											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	86					0	0	0.361761	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792523	8792523	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8792523C>T	ENST00000447110.1	-	9	952	c.828G>A	c.(826-828)ggG>ggA	p.G276G	PIK3R5_ENST00000581552.1_Silent_p.G276G|PIK3R5_ENST00000584803.1_Silent_p.G276G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	276				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus		p.G276G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGTGGAGCTTCCCTGGTTTTG	0.592000													17	48					0	0	0.500413	0	0
ATP7B	540	broad.mit.edu	37	13	52513267	52513267	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr13:52513267G>C	ENST00000242839.4	-	17	3775	c.3619C>G	c.(3619-3621)Cac>Gac	p.H1207D	ATP7B_ENST00000418097.2_Missense_Mutation_p.H1142D|ATP7B_ENST00000344297.5_Missense_Mutation_p.H1000D|ATP7B_ENST00000417240.2_Missense_Mutation_p.H418D|ATP7B_ENST00000448424.2_Missense_Mutation_p.H1129D|ATP7B_ENST00000400366.3_Missense_Mutation_p.H1096D|ATP7B_ENST00000400370.3_Missense_Mutation_p.H777D	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1207			H -> R (in dbSNP:rs7334118).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.H1207D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCAGCGTGTGCACAGCCAGG	0.582000									Wilson disease				4	97					0	0	0.184627	0	0
SPATA19	219938	broad.mit.edu	37	11	133712384	133712384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:133712384G>A	ENST00000299140.3	-	5	487	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SPATA19_ENST00000532889.1_Nonsense_Mutation_p.R145*	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	145					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.R145*(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCTTACCTTCGTCTCACCTGC	0.527000													8	198					0	0	0.307466	0	0
TIGD3	220359	broad.mit.edu	37	11	65123520	65123520	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:65123520G>C	ENST00000309880.5	+	2	448	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E81Q(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGGATCGACGAGGCTCTGCT	0.627000													9	172					0	0	0.307466	0	0
FOXF2	2295	broad.mit.edu	37	6	1390758	1390758	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:1390758G>A	ENST00000259806.1	+	1	690	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	192					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.R192R(1)		large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCCGCCGCCGGCCGCGCGGCT	0.706000													4	135					0	0	0.150653	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642976	1642976	+	Silent	SNP	A	A	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:1642976A>C	ENST00000399682.1	-	1	392	c.348T>G	c.(346-348)ggT>ggG	p.G116G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	116	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662000													6	37					0	0	0.693898	0	0
MIR758	0	broad.mit.edu	37	14	101492436	101492436	+	RNA	SNP	A	A	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:101492436A>T	ENST00000390227.1	+	0	80					NR_030406.1																						AACCCTCAGTATCTAATGCCC	0.507000													8	226					0	0	0.307466	0	0
RHD	6007	broad.mit.edu	37	1	25617207	25617207	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:25617207G>A	ENST00000328664.4	+	3	566	c.411G>A	c.(409-411)gcG>gcA	p.A137A	RHD_ENST00000417538.2_Silent_p.A137A|RHD_ENST00000568195.1_Silent_p.A137A|RHD_ENST00000342055.5_Silent_p.A137A|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Silent_p.A137A|RHD_ENST00000357542.4_Silent_p.A137A|RHD_ENST00000423810.2_Silent_p.A137A	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	137						integral to plasma membrane		p.A137A(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAACTTGGCGCAGTTGGTGG	0.557000													4	73					0	0	0.150653	0	0
MEOX2	4223	broad.mit.edu	37	7	15725595	15725595	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:15725595C>T	ENST00000262041.5	-	1	842	c.433G>A	c.(433-435)Gcg>Acg	p.A145T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	145					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A145T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCCCCGGCGCGCACGCGGCC	0.711000													5	219					0	0	0.217242	0	0
POLG	5428	broad.mit.edu	37	15	89871740	89871740	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89871740G>A	ENST00000268124.5	-	6	1530	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	POLG_ENST00000442287.2_Silent_p.D399D	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	399					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.D399D(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGGCCCACACGTCCTGGGCAC	0.607000								DNA polymerases (catalytic subunits)					39	45					0	0	0.840704	0	0
FKBP4	2288	broad.mit.edu	37	12	2910444	2910444	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:2910444G>T	ENST00000001008.4	+	9	1381	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	398	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.Q398H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TGTGCCAGCAGCGGATCCGAA	0.567000													37	195					4.92203e-23	5.70955e-23	0.819951	1	0
CCDC171	203238	broad.mit.edu	37	9	15744747	15744747	+	Silent	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:15744747A>G	ENST00000380701.3	+	17	2854	c.2526A>G	c.(2524-2526)ggA>ggG	p.G842G	CCDC171_ENST00000297641.3_Silent_p.G842G	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	842								p.G842G(1)|p.G109G(1)									TGTGCACAGGAGAGCCCCAAG	0.398000													34	57					0	0	0.779181	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280114	39280114	+	Silent	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:39280114T>C	ENST00000394014.1	-	1	305	c.261A>G	c.(259-261)agA>agG	p.R87R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	87	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.R87R(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGTCTGCAGCAGC	0.677000													4	98					0	0	0.387290	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572844	38572844	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:38572844G>T	ENST00000222345.6	+	3	1148	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	213					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.M213I(1)		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)			TGCAGGGCATGCCCGAGCAGA	0.721000													4	148					1.23904e-05	1.35593e-05	0.184627	1	0
NLRP4	147945	broad.mit.edu	37	19	56369349	56369349	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:56369349C>T	ENST00000301295.6	+	3	1012	c.590C>T	c.(589-591)cCg>cTg	p.P197L	NLRP4_ENST00000346986.5_Missense_Mutation_p.P197L|NLRP4_ENST00000587891.1_Missense_Mutation_p.P122L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	197	NACHT.						ATP binding	p.P197L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGGAGTTGCCGCCAACGAGT	0.517000													89	103					0	0	0.870114	0	0
HOOK2	29911	broad.mit.edu	37	19	12878871	12878871	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:12878871G>A	ENST00000264827.5	-	12	1341	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R391C	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	391	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.R391C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCAGGTTGCGGCATTCAAAT	0.572000													5	281					0	0	0.184627	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913571	77913571	+	Missense_Mutation	SNP	G	G	A	rs144237768		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:77913571G>A	ENST00000321110.1	-	2	642	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding|zinc ion binding	p.A116V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTGGAGGCGCCAGGGACTC	0.627000													5	49					0	0	0.217242	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844094	128844094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:128844094C>A	ENST00000310343.9	-	20	2955	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	986					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.E637*(2)|p.E986*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGCAATTCTACTTCTTCA	0.478000													6	215					1.06961e-07	1.20461e-07	0.278610	1	0
GDF6	392255	broad.mit.edu	37	8	97156855	97156855	+	Missense_Mutation	SNP	G	G	A	rs140782427		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:97156855G>A	ENST00000287020.5	-	2	1403	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	435					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.A435V(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATTATTGCCCGCGTCGATGTA	0.602000													7	56					0	0	0.248553	0	0
CASP1	834	broad.mit.edu	37	11	104899864	104899864	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:104899864G>C	ENST00000533400.1	-	7	1028	c.993C>G	c.(991-993)tgC>tgG	p.C331W	CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	331					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.C331W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTGTGGAAGAGCAGAAAGCGA	0.408000													13	106					0	0	0.457914	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603105	138603105	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:138603105C>G	ENST00000440172.1	-	2	1315	c.1267G>C	c.(1267-1269)Gcc>Ccc	p.A423P	KIAA1549_ENST00000422774.1_Missense_Mutation_p.A423P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	423						integral to membrane		p.A423P(1)|p.A373P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGTGCAGGCCGCACACCAA	0.562000			O	BRAF	pilocytic astrocytoma								57	80					0	0	0.870114	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682000													14	154					0	0	0.500413	0	0
CDH13	1012	broad.mit.edu	37	16	83704517	83704517	+	Silent	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:83704517G>C	ENST00000566620.1	+	9	1514	c.1224G>C	c.(1222-1224)ggG>ggC	p.G408G	CDH13_ENST00000428848.3_Silent_p.G369G|CDH13_ENST00000268613.10_Silent_p.G455G	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.G408G(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAAACCCCGGGCAGAGCTTTG	0.502000													10	221					0	0	0.361761	0	0
CDH22	64405	broad.mit.edu	37	20	44869813	44869813	+	Silent	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr20:44869813G>A	ENST00000372262.3	-	2	739	c.339C>T	c.(337-339)gaC>gaT	p.D113D	CDH22_ENST00000537909.1_Silent_p.D113D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	113	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D113D(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTGTCAGCTCGTCGATCAGGA	0.627000													7	43					0	0	0.278610	0	0
FAT3	120114	broad.mit.edu	37	11	92088335	92088335	+	Silent	SNP	C	C	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:92088335C>A	ENST00000298047.6	+	1	3074	c.3057C>A	c.(3055-3057)gtC>gtA	p.V1019V	FAT3_ENST00000541502.1_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000409404.2_Silent_p.V1019V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1019	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1019V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCGGCCTGTCTCTCTGTCAT	0.463000										TCGA Ovarian(4;0.039)			4	82					0.00909568	0.0095054	0.150653	1	0
OR2T6	254879	broad.mit.edu	37	1	248551359	248551359	+	Silent	SNP	C	C	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:248551359C>T	ENST00000355728.2	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F150F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTTGGTTCGGTGGGGCTT	0.557000													7	79					0	0	0.248553	0	0
CHAT	1103	broad.mit.edu	37	10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:50835688G>A	ENST00000395562.2	+	8	1191	c.722G>A	c.(721-723)cGt>cAt	p.R241H	CHAT_ENST00000455728.2_Missense_Mutation_p.R205H|CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000337653.2_Missense_Mutation_p.R323H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	323					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R323H(2)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AATTTCCGCCGTCTCAGTGAG	0.512000													10	380					0	0	0.387290	0	0
DTL	51514	broad.mit.edu	37	1	212274088	212274088	+	Silent	SNP	T	T	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:212274088T>C	ENST00000366991.4	+	14	2070	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.L544L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	586					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	p.L586L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAATCTTCATTTGGATCTGTG	0.453000													16	169					0	0	0.479597	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803746	142803746	+	RNA	SNP	A	A	G			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:142803746A>G	ENST00000423385.1	-	0	1219																											actatggattagagctgatta	0.393000													4	16					0	0	0.184627	0	0
SLFN5	162394	broad.mit.edu	37	17	33588030	33588030	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:33588030G>C	ENST00000299977.4	+	3	1201	c.1053G>C	c.(1051-1053)ttG>ttC	p.L351F	SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	351					cell differentiation		ATP binding	p.L351F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGTTGAGTTTGTCATCTGCCA	0.468000													13	281					0	0	0.479597	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2																						AAAAAAAAAAGTTGTTTTAAGAC	0.409													7	160	---	---	---	---					
AC007246.3	0	broad.mit.edu	37	2	39723084	39723085	+	RNA	INS	-	-	CTTC	rs76729915	by1000genomes	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:39723084_39723085insCTTC	ENST00000449569.1	+	0	282				AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000422128.1_RNA	NR_037875.1																						tctttctttttcttccttcctt	0.351													3	5	---	---	---	---					
ZNF638	27332	broad.mit.edu	37	2	71582900	71582900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:71582900delT	ENST00000409544.1	+	3	1999	c.1369delT	c.(1369-1371)ttafs	p.L457fs	ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	457					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGTCGACAGTTACGTCAACA	0.289													7	74	---	---	---	---					
ZCCHC10	54819	broad.mit.edu	37	5	132334285	132334287	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:132334285_132334287delTTC	ENST00000324170.3	-	4	567_569	c.501_503delGAA	c.(499-504)aagaaa>aaa	p.167_168KK>K	ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_In_Frame_Del_p.189_190KK>K|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.183_184KK>K|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.153_154KK>K	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	189	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTTCTTTTTCTTCTTCTTTG	0.419													7	109	---	---	---	---					
STAG3L4	0	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423													2	4	---	---	---	---					
RP11-526P5.2	0	broad.mit.edu	37	10	2561172	2561173	+	RNA	INS	-	-	C	rs34717268	by1000genomes	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:2561172_2561173insC	ENST00000438753.1	+	0	207																											aagaagaagGGGGGGGGAGGAG	0.381													3	4	---	---	---	---					
ATP5A1	498	broad.mit.edu	37	18	43668136	43668137	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:43668136_43668137insT	ENST00000593152.2	-	6	1126_1127	c.587_588insA	c.(586-588)tatfs	p.Y196fs	ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.Y224fs|ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.Y246fs|ATP5A1_ENST00000398752.6_Frame_Shift_Ins_p.Y246fs	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	246					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CAATAGCAACATAAATACAGTA	0.347													43	229	---	---	---	---					
ZMYM3	9203	broad.mit.edu	37	X	70463721	70463722	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:70463721_70463722delAT	ENST00000373998.1	-	21	4050_4051	c.3353_3354delAT	c.(3352-3354)tatfs	p.Y1118fs	ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1130					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGTCAGGTTCATATCGTTCACC	0.495													53	26	---	---	---	---					
