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	uc002vew.3	-	10	1430	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ABCA12_uc002vev.3_Nonsense_Mutation_p.R86*|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	404					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.R404*(2)|p.R404Q(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	1	0	0
CD40	958	broad.mit.edu	37	20	44751805	44751805	+	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.chr20:44751805C>T	uc002xrg.1	+	4	521	c.444C>T	c.(442-444)gtC>gtT	p.V148V	CD40_uc002xrf.1_3'UTR|CD40_uc002xrh.1_Silent_p.V148V|CD40_uc002xrj.1_Intron|CD40_uc002xrk.1_Intron	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	148					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.V148V(2)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCTGCCCAGTCGGCTTCTTCT	0.532000									Immune Deficiency with Hyper-IgM				67	153					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35785377	35785377	+	Missense_Mutation	SNP	C	C	T	rs139862817	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.chr3:35785377C>T	uc011axy.2	+	16	2167	c.1955C>T	c.(1954-1956)aCg>aTg	p.T652M	ARPP21_uc003cga.3_Missense_Mutation_p.T632M|ARPP21_uc003cgb.3_Missense_Mutation_p.T651M|ARPP21_uc003cgf.3_Missense_Mutation_p.T487M|ARPP21_uc003cgg.3_Missense_Mutation_p.T174M|MIR128-2_uc011axz.1_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	651	Gln-rich.					cytoplasm	nucleic acid binding	p.T651M(2)		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						ACCTCAACCACGCAACAGTAC	0.478000													5	195					0	0	1	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	uc002bnj.2	+	13	1919	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ABHD2_uc002bnk.2_Missense_Mutation_p.Y334C	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	334						integral to membrane	carboxylesterase activity	p.Y334C(2)		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	1	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	uc010nmz.3	-	0	2859	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_uc004efw.4_Nonsense_Mutation_p.R395*|PCDH19_uc004efx.4_Nonsense_Mutation_p.R395*	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R395*(2)		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	1	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	uc004ccg.3	+	6	1307	c.952G>A	c.(952-954)Gac>Aac	p.D318N	GFI1B_uc010mzy.3_Missense_Mutation_p.D272N	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	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(4)		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	1	0	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	uc002yjb.1	+	9	1512	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	487						plasma membrane		p.G487E(2)		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	1	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	uc002vec.3	-	0	185	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	19					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	p.A19V(2)		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	1	0	0
PCDHAC2	56134	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	uc003lhx.2	+	0	1449	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.A483A|PCDHAC2_uc011dad.2_Silent_p.A483A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A483A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662000													6	210					0	0	1	0	0
RACGAP1P	83956	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	uc001rol.3	-	0		c.1279G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		ATCCACTTTGCTGACGAGGGG	0.433000													4	151					0	0	1	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	uc010ygn.2	-	1	1322	c.1095C>T	c.(1093-1095)caC>caT	p.H365H		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									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	1	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	uc001lbg.1	+	22	3459	c.3306A>C	c.(3304-3306)aaA>aaC	p.K1102N	TDRD1_uc001lbf.3_Missense_Mutation_p.K979N|TDRD1_uc001lbh.1_Missense_Mutation_p.K1089N|TDRD1_uc001lbi.1_Missense_Mutation_p.K1093N|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.K811N	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	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(2)|p.E1101D(1)|p.K1102T(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	1	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	uc010pzi.2	-	0	97	c.97G>A	c.(97-99)Gtt>Att	p.V33I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33I(2)		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	1	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	uc001vox.1	-	7	1072	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	NALCN_uc001voy.3_Missense_Mutation_p.R10C|NALCN_uc001voz.2_Missense_Mutation_p.R295C|NALCN_uc001vpa.2_Missense_Mutation_p.R295C	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	295						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R295C(2)|p.R295H(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	1	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	uc001kkp.3	-	3	257	c.212T>A	c.(211-213)gTg>gAg	p.V71E	SORBS1_uc001kkn.3_Missense_Mutation_p.V27E|SORBS1_uc001kkm.3_Missense_Mutation_p.V59E|SORBS1_uc001kko.3_Missense_Mutation_p.V71E|SORBS1_uc001kkq.3_Missense_Mutation_p.V71E|SORBS1_uc001kkr.3_Missense_Mutation_p.V39E|SORBS1_uc001kks.3_Missense_Mutation_p.V39E|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Missense_Mutation_p.V71E|SORBS1_uc001kkv.3_Missense_Mutation_p.V39E|SORBS1_uc001kkw.3_Missense_Mutation_p.V71E|SORBS1_uc010qoe.2_Missense_Mutation_p.V39E|SORBS1_uc010qof.1_Missense_Mutation_p.V39E|SORBS1_uc001kkx.1_Missense_Mutation_p.V39E	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	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	SH3/SH2 adaptor activity|actin binding|insulin receptor binding	p.V71E(3)|p.A70V(1)		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	1	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	uc002wyw.1	+	10	1236	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K	BPIFB1_uc002wyx.1_Non-coding_Transcript	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	359						extracellular space	lipid binding	p.Q359K(1)									CAAGGTGGCCCAACTGATCGT	0.532000													23	76					0	0	1	0	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	uc001kxr.3	-	44	3160	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	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(2)		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	1	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	uc011axy.2	+	16	2178	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	ARPP21_uc003cga.3_Missense_Mutation_p.R636W|ARPP21_uc003cgb.3_Missense_Mutation_p.R655W|ARPP21_uc003cgf.3_Missense_Mutation_p.R491W|ARPP21_uc003cgg.3_Missense_Mutation_p.R178W|MIR128-2_uc011axz.1_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	655	Gln-rich.					cytoplasm	nucleic acid binding	p.R655W(2)		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	1	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	uc011kuo.2	+	5	1571	c.1408T>A	c.(1408-1410)Tac>Aac	p.Y470N	AF035281_uc003wfr.4_Intron	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	470					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Y470N(2)		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	1	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	uc010nov.3	+	7	1098	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.R273Q|PLP1_uc004elj.3_Missense_Mutation_p.R238Q|PLP1_uc011msf.2_Missense_Mutation_p.R218Q|PLP1_uc010nox.3_Missense_Mutation_p.R227Q	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	273					cell death|synaptic transmission	integral to membrane		p.R273Q(4)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTCATGGGCCGAGGCACCAAG	0.473000													9	153					0	0	1	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	uc001fbt.1	+	2	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	83	EF-hand 2.					cytoplasm	calcium ion binding	p.A83A(4)		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	1	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	uc009xdc.3	+	13	2070	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L	DTL_uc010ptb.2_Silent_p.L544L|DTL_uc001hiz.4_Silent_p.L315L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	586					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding	p.L586L(2)		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	1	0	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	uc003zoq.1	-	0	512	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	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(2)		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	1	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	uc004dbg.3	+	2	523	c.294C>T	c.(292-294)agC>agT	p.S98S	PDK3_uc004dbh.3_Silent_p.S98S	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	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(3)		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	1	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	uc010vba.2	+	4	809	c.734G>C	c.(733-735)aGt>aCt	p.S245T	ACSM3_uc002dhq.3_Missense_Mutation_p.S216T|ACSM3_uc002dhr.3_Missense_Mutation_p.S216T|ERI2_uc002dhs.3_Missense_Mutation_p.L303V	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	216				T -> S (in Ref. 1; BAA03853).	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	1	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	uc002eke.1	+	6	1317	c.908A>G	c.(907-909)cAt>cGt	p.H303R	HERPUD1_uc002ekf.1_Missense_Mutation_p.H302R|HERPUD1_uc002ekg.1_Missense_Mutation_p.H278R|HERPUD1_uc010cco.1_Missense_Mutation_p.I312V|HERPUD1_uc010ccp.1_Missense_Mutation_p.H205R|HERPUD1_uc002ekh.1_Missense_Mutation_p.H121R	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	303						endoplasmic reticulum membrane|integral to membrane	protein binding	p.H303R(2)|p.H302R(1)|p.L302M(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	1	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	uc003gtr.2	+	0	769	c.486T>G	c.(484-486)agT>agG	p.S162R	KLHL5_uc003gtp.3_Missense_Mutation_p.S116R|KLHL5_uc003gtq.3_Intron|KLHL5_uc003gts.3_Missense_Mutation_p.S162R|KLHL5_uc003gtt.3_Missense_Mutation_p.S162R	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	162						cytoplasm|cytoskeleton	actin binding	p.S162R(2)		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	1	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	uc003acb.3	+	5	1585	c.1389C>T	c.(1387-1389)cgC>cgT	p.R463R	SEZ6L_uc003acd.3_Silent_p.R463R|SEZ6L_uc011akd.2_Silent_p.R463R|SEZ6L_uc003ace.3_Silent_p.R463R|SEZ6L_uc011akc.2_Silent_p.R463R|SEZ6L_uc003acc.3_Silent_p.R463R|SEZ6L_uc003acf.1_Silent_p.R236R|SEZ6L_uc010gvc.1_Silent_p.R236R	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	463	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.R463R(2)		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	1	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	uc002gkd.3	-	7	1226	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.G314W	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	330					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G330W(2)		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					0	0	1	0	0
LOC389765	389765	broad.mit.edu	37	9	88430887	88430887	+	RNA	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.chr9:88430887G>C	uc004aog.2	+	1		c.226G>C								Homo sapiens kinesin family member 27 pseudogene (LOC389765), non-coding RNA.																		TGCCAAGGAAGAAATACCAGT	0.348000													3	90					0	0	1	0	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	uc003tid.1	+	10	2816	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	HECW1_uc011kbi.1_Silent_p.D737D	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	737					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.D737D(2)|p.L737L(1)|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	1	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	uc001xly.3	-	1	2217	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SLC8A3_uc001xlw.3_Missense_Mutation_p.R488H|SLC8A3_uc001xlx.3_Missense_Mutation_p.R488H|SLC8A3_uc001xlz.3_Missense_Mutation_p.R488H|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	488					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R488H(2)		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	1	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	uc001pqz.3	-	0	664	c.203G>C	c.(202-204)aGg>aCg	p.R68T	BACE1_uc001pqw.3_Missense_Mutation_p.R68T|BACE1_uc001pqx.3_Missense_Mutation_p.R68T|BACE1_uc001pqy.3_Missense_Mutation_p.R68T|BACE1_uc001pra.1_Missense_Mutation_p.R68T	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	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(2)		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	1	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	uc001fgr.1	+	8	867	c.766C>T	c.(766-768)Cga>Tga	p.R256*	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Nonsense_Mutation_p.R240*|ADAM15_uc010peu.1_Nonsense_Mutation_p.R273*|ADAM15_uc001fgx.1_Nonsense_Mutation_p.R256*|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Nonsense_Mutation_p.R256*|ADAM15_uc001fgs.1_Nonsense_Mutation_p.R256*|ADAM15_uc010pev.1_Nonsense_Mutation_p.R266*|ADAM15_uc001fgu.1_Nonsense_Mutation_p.R256*|ADAM15_uc001fgv.1_Nonsense_Mutation_p.R256*|ADAM15_uc001fgw.1_Nonsense_Mutation_p.R256*	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	256	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.R256*(2)		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	1	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	uc001kyi.1	+	14	2307	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	694						integral to membrane	neuropeptide receptor activity	p.R694W(2)|p.R694R(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	1	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	uc003lue.4	-	7	4665	c.4652A>G	c.(4651-4653)cAc>cGc	p.H1551R		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1551	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.H1551R(2)		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	1	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	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	1	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	uc021oqe.1	+	4	724	c.348A>T	c.(346-348)aaA>aaT	p.K116N	TMEM56_uc001drd.4_Missense_Mutation_p.K116N|TMEM56_uc001drb.3_Missense_Mutation_p.K116N	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	116	TLC.					integral to membrane		p.K116N(2)		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	1	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	uc002rmt.2	-	0	958	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	320			R -> C.		response to stimulus|visual perception	photoreceptor outer segment		p.R320C(2)		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	1	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	uc003kjr.3	-	2	599	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	151					cell wall macromolecule catabolic process	integral to membrane		p.L151V(2)		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	1	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	uc002gmo.3	-	24	3329	c.3235C>A	c.(3235-3237)Caa>Aaa	p.Q1079K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1079						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.Q1079K(2)		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	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53700067	53700067	+	Missense_Mutation	SNP	G	G	T	rs150319735	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.chr12:53700067G>T	uc001scp.4	+	4	780	c.728G>T	c.(727-729)cGg>cTg	p.R243L	C12orf10_uc009zmx.3_Missense_Mutation_p.R192L|C12orf10_uc001scq.4_Missense_Mutation_p.R128L	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.	243								p.R243L(2)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						CTGCCAGCCCGGGCCTTGGTG	0.532000													6	273					0	0	1	0	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	uc010piq.2	-	0	86	c.86T>A	c.(85-87)cTc>cAc	p.L29H		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L29H(2)		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	1	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	uc001uzn.4	-	2	3638	c.3147T>C	c.(3145-3147)ccT>ccC	p.P1049P	TSC22D1_uc001uzo.2_Intron|TSC22D1_uc001uzm.4_Silent_p.P120P|TSC22D1_uc021riz.1_Silent_p.P62P|TSC22D1_uc021rja.1_Silent_p.P62P	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	1049					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.P1049P(4)|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	1	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	uc010xyn.2	+	7	2213	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T	DHX34_uc010elc.1_Missense_Mutation_p.A537T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	622						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.A622T(2)		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	1	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	uc001ftj.1	-	2	554	c.309A>C	c.(307-309)caA>caC	p.Q103H		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	103					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.Q103H(2)		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	1	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	uc002knm.3	-	13	2003	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	LAMA1_uc010wzj.2_Missense_Mutation_p.V113M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	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(2)		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	1	0	0
MAGEA12	4111	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	uc004fgb.3	-	2		c.288C>A						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGaaggcaggccagcaggc	0.493000													7	76					0	0	1	0	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	uc011dxu.1	-	3	797	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	EYS_uc003peq.3_Missense_Mutation_p.I87V|EYS_uc003per.1_Missense_Mutation_p.I87V|EYS_uc021zbn.1_Missense_Mutation_p.I87V|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	87					response to stimulus|visual perception	extracellular region	calcium ion binding	p.I87V(3)		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	1	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	uc003gxb.3	-	1	295	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T48M(8)|p.T48T(2)		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	1	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	uc010xxi.2	-	3	1434	c.1434G>T	c.(1432-1434)acG>acT	p.T478T	NKPD1_uc021uvt.1_Silent_p.T256T	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.									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	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14535392	14535392	+	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.chr11:14535392C>A	uc001mll.3	-	6	748	c.403G>T	c.(403-405)Ggt>Tgt	p.G135C	PSMA1_uc010rcp.1_Intron|PSMA1_uc001mlk.3_Missense_Mutation_p.G129C	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	129					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity	p.G135C(1)		large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AGACCAACACCATATGGTCTC	0.308000													3	69					0	0	1	0	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	uc011arg.2	-	0	234	c.220A>G	c.(220-222)Aac>Gac	p.N74D	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.N74D|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.N74D	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	74					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.N74D(2)		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	1	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	uc003slh.1	-	18	2352	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C	MAD1L1_uc003sle.1_Missense_Mutation_p.R425C|MAD1L1_uc003slf.1_Missense_Mutation_p.R696C|MAD1L1_uc003slg.1_Missense_Mutation_p.R696C|MAD1L1_uc010ksh.1_Missense_Mutation_p.R696C|MAD1L1_uc003sli.1_Missense_Mutation_p.R604C|MAD1L1_uc003sld.1_Missense_Mutation_p.R152C	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	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(3)		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	1	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	uc003hee.3	+	5	1332	c.1307_splice	c.e5+1	p.S436_splice	UGT2B10_uc011cam.2_Splice_Site_p.S352_splice	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	436					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	1	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	uc010rin.2	+	0	296	c.296T>C	c.(295-297)gTa>gCa	p.V99A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V99A(2)		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	1	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	uc003zvq.3	+	1	401	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	KIAA1045_uc003zvr.3_Missense_Mutation_p.G75S	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	75							calcium ion binding	p.G75S(2)		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	1	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	uc021xkv.1	+	24	3327	c.3182G>A	c.(3181-3183)aGc>aAc	p.S1061N		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1061					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.S1061N(2)		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	1	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	uc022cio.1	+	0	437	c.437T>A	c.(436-438)aTc>aAc	p.I146N	SPRY3_uc004fnq.1_Missense_Mutation_p.I146N	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	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	1	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	uc010rku.2	+	0	702	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N234K(2)		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	1	0	0
AVPR1A	552	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	uc001sro.1	-	0	2763	c.789T>C	c.(787-789)ggT>ggC	p.G263G		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	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(2)		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	1	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	uc004bsm.4	-	6	726	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	191					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|adenylate kinase activity|protein binding	p.D191D(3)		endometrium(1)|prostate(1)	2						ACTTTAGGGCGTCCAGGTGGG	0.667000													10	102					0	0	1	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	uc001ojd.3	-	14	2817	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	915					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.A915A(2)		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	1	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	uc010ekv.3	+	0	1367	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	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	1	0	0
PCDHGC5	56097	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	uc003lkl.2	+	0	1653	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.S551S|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	549	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S551S(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGTCGTTGAGCCTGT	0.597000													10	329					0	0	1	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	uc003blp.2	-	13	2052	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	LMF2_uc003blo.2_Missense_Mutation_p.R649H	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	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	1	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	uc003xzb.3	+	1	1052	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	155					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E155V(2)|p.R154L(1)|p.R154Q(1)|p.E155Q(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	1	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	uc001rbt.2	-	12	2894	c.2715C>A	c.(2713-2715)gcC>gcA	p.A905A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	905					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.A905A(3)		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					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	A	G	rs1057378	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.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000													3	36					0	0	1	0	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	uc002iqw.1	+	1	278	c.222T>C	c.(220-222)tgT>tgC	p.C74C	RSAD1_uc010wmp.2_Silent_p.C74C|RSAD1_uc010wmq.1_Intron	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	74					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	p.C74C(2)		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	1	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	uc002glt.3	-	8	895	c.828G>A	c.(826-828)ggG>ggA	p.G276G	PIK3R5_uc010vuz.2_Silent_p.G276G|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	276				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus		p.G276G(3)		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	1	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	uc001vfw.2	-	16	3776	c.3619C>G	c.(3619-3621)Cac>Gac	p.H1207D	ATP7B_uc001vfy.2_Missense_Mutation_p.H1096D|ATP7B_uc010adv.2_Missense_Mutation_p.H777D|ATP7B_uc001vfx.2_Missense_Mutation_p.H1000D|ATP7B_uc010tgt.1_Missense_Mutation_p.H1142D|ATP7B_uc010tgu.1_Missense_Mutation_p.H1159D|ATP7B_uc010tgv.1_Missense_Mutation_p.H1129D|ATP7B_uc001vfv.2_Missense_Mutation_p.H479D|ATP7B_uc010tgs.1_Missense_Mutation_p.H418D	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	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(2)		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	1	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	uc001qgv.1	-	4	484	c.433C>T	c.(433-435)Cga>Tga	p.R145*		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	145					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.R145*(2)|p.R145Q(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	1	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	uc021qlj.1	+	0	241	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	TIGD3_uc001odo.4_Missense_Mutation_p.E81Q	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E81Q(2)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGGATCGACGAGGCTCTGCT	0.627000													9	172					0	0	1	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	uc009ycy.1	-	1	330	c.243T>G	c.(241-243)ggT>ggG	p.G81G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	176	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	1	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	uc010yjt.2	+	0	576	c.576C>A	c.(574-576)agC>agA	p.S192R		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	192					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S192R(2)		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	0	1	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	uc009vro.3	+	2	469	c.411G>A	c.(409-411)gcG>gcA	p.A137A	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Silent_p.A137A|RHD_uc001bjz.3_Silent_p.A137A|RHD_uc001bkc.3_Silent_p.A137A|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Silent_p.A137A|RHD_uc001bkb.3_Silent_p.A137A|RHD_uc009vrn.3_Silent_p.A137A|RHD_uc009vrp.3_Silent_p.A137A			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	137						integral to plasma membrane		p.A137A(2)		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	1	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	uc003stc.3	-	0	714	c.433G>A	c.(433-435)Gcg>Acg	p.A145T		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	145					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A145T(2)		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	1	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	uc002bns.4	-	5	1479	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	POLG_uc002bnr.4_Silent_p.D399D	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	399					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.D399D(2)		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	1	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	uc001qkz.3	+	8	1392	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	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(4)		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					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107099378	107099378	+	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.chr14:107099378G>A	uc021ser.1	-	105		c.4710C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTCAGGGACCCCCCAG	0.567000													4	92					0	0	1	0	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	uc011lmu.2	+	15	2661	c.2550A>G	c.(2548-2550)ggA>ggG	p.G850G	CCDC171_uc010mih.1_Silent_p.G850G|CCDC171_uc003zmd.3_Silent_p.G842G|CCDC171_uc003zme.3_Silent_p.G757G|CCDC171_uc003zmf.1_Silent_p.G150G	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	842								p.G842G(1)|p.G109G(1)									TGTGCACAGGAGAGCCCCAAG	0.398000													34	57					0	0	1	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	uc002hwa.3	-	0	306	c.261A>G	c.(259-261)agA>agG	p.R87R		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	87	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.R87R(6)		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	1	0	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	uc002qmd.4	+	2	1012	c.590C>T	c.(589-591)cCg>cTg	p.P197L	NLRP4_uc002qmf.3_Missense_Mutation_p.P122L|NLRP4_uc010etf.3_Missense_Mutation_p.P28L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	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	1	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	uc022bzi.1	-	0	347	c.347C>T	c.(346-348)gCg>gTg	p.A116V	ZCCHC5_uc004edc.1_Missense_Mutation_p.A116V	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	116	Pro-rich.						nucleic acid binding|zinc ion binding	p.A116A(2)|p.A116V(2)		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	1	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	uc009zcp.3	-	19	2956	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ARHGAP32_uc009zcq.2_Nonsense_Mutation_p.E946*|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Nonsense_Mutation_p.E637*	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	986					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome 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					0	0	1	0	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	uc003yhp.3	-	1	1404	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	435					BMP signaling pathway|activin receptor 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(2)|p.D434E(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	1	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	uc001pim.4	-	6	993	c.993C>G	c.(991-993)tgC>tgG	p.C331W	CASP1_uc001pig.3_Missense_Mutation_p.C238W|CASP1_uc021qpq.1_Missense_Mutation_p.C310W|CASP1_uc021qpr.1_Intron|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.C331W|CASP1_uc021qpt.1_Missense_Mutation_p.C238W|CASP1_uc010rve.2_Missense_Mutation_p.C331W|CASP1_uc010rvf.2_Missense_Mutation_p.C238W|CASP1_uc010rvg.2_Missense_Mutation_p.C310W|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.C310W|CASP1_uc021qpu.1_Missense_Mutation_p.C238W|CASP1_uc021qpv.1_Missense_Mutation_p.C310W|CASP1_uc021qpw.1_Intron|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.C331W|CASP1_uc009yxj.3_Missense_Mutation_p.C176W|CASP1_uc010rvk.2_Missense_Mutation_p.C292W	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	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	1	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	uc011kql.2	-	1	1316	c.1267G>C	c.(1267-1269)Gcc>Ccc	p.A423P	KIAA1549_uc011kqj.2_Missense_Mutation_p.A423P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	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	1	0	0
PCDHGC5	56097	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	uc003ljk.2	+	0	2069	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.T628T	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	630	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T628T(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682000													14	154					0	0	1	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	uc010vns.2	+	9	1629	c.1365G>C	c.(1363-1365)ggG>ggC	p.G455G	CDH13_uc002fgx.3_Silent_p.G408G|CDH13_uc010vnt.2_Silent_p.G154G|CDH13_uc010vnu.2_Silent_p.G369G	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	408	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|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|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|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	1	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	uc002xrm.2	-	1	738	c.339C>T	c.(337-339)gaC>gaT	p.D113D	CDH22_uc010ghk.1_Silent_p.D113D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	113	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D113D(2)|p.I112I(2)|p.D113N(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	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592860	158592860	+	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.chr1:158592860G>A	uc001fst.1	-	42	6232	c.6033C>T	c.(6031-6033)gcC>gcT	p.A2011A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2011					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2011V(6)|p.A2011A(4)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCAGAGCGGCATAACGCT	0.478000													279	376					0	0	1	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	uc001pdj.4	+	0	3074	c.3057C>A	c.(3055-3057)gtC>gtA	p.V1019V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	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	0	1	0	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	uc001iei.1	+	0	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F150F(2)		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	1	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	uc001jhz.2	+	6	1121	c.968G>A	c.(967-969)cGt>cAt	p.R323H	CHAT_uc001jhv.1_Missense_Mutation_p.R205H|CHAT_uc001jhx.1_Missense_Mutation_p.R205H|CHAT_uc001jhy.1_Missense_Mutation_p.R205H|CHAT_uc001jia.2_Missense_Mutation_p.R241H|CHAT_uc010qgs.1_Missense_Mutation_p.R205H	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	323					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R323H(4)		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	1	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	uc002hjf.4	+	2	1170	c.1053G>C	c.(1051-1053)ttG>ttC	p.L351F	SLFN5_uc010wcg.2_Missense_Mutation_p.L351F	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	351					cell differentiation		ATP binding	p.L351F(2)		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	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	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	uc001cqo.1	-	8		c.1253_1255delAAC								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AAAAAAAAAAGTTGTTTTAAGAC	0.409													7	162	---	---	---	---					
ZNF638	27332	broad.mit.edu	37	2	71582900	71582900	+	Frame_Shift_Del	DEL	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	uc002shx.3	+	2	1692	c.1369delT	c.(1369-1371)ttafs	p.L457fs	ZNF638_uc010fec.2_Frame_Shift_Del_p.L563fs|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Frame_Shift_Del_p.L457fs|ZNF638_uc002shz.3_Frame_Shift_Del_p.L457fs|ZNF638_uc002shy.3_Frame_Shift_Del_p.L457fs|ZNF638_uc002sia.3_Frame_Shift_Del_p.L457fs|ZNF638_uc002sib.1_Frame_Shift_Del_p.L457fs	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	457					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide 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	-	-			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	uc003kyh.3	-	4	578_580	c.567_569delGAA	c.(565-570)aagaaa>aaa	p.189_190KK>K	ZCCHC10_uc003kyg.3_In_Frame_Del_p.167_168KK>K|ZCCHC10_uc011cxl.2_In_Frame_Del_p.153_154KK>K	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	189	Poly-Lys.						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	---	---	---	---					
ATP5A1	498	broad.mit.edu	37	18	43668136	43668137	+	Frame_Shift_Ins	INS	-	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.chr18:43668136_43668137insT	uc002lbr.1	-	5	827_828	c.737_738insA	c.(736-738)tatfs	p.Y246fs	ATP5A1_uc010dnl.1_Frame_Shift_Ins_p.Y196fs|ATP5A1_uc002lbs.1_Frame_Shift_Ins_p.Y196fs|ATP5A1_uc002lbt.1_Frame_Shift_Ins_p.Y246fs	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	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|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|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	-	-			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	uc004dzh.2	-	20	3568_3569	c.3389_3390delAT	c.(3388-3390)tatfs	p.Y1130fs	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_uc004dzj.2_Frame_Shift_Del_p.Y1118fs	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	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	---	---	---	---					
