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
MYOM3	127294	broad.mit.edu	37	1	24419567	24419567	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:24419567C>T	ENST00000330966.7	-	10	1125	c.963G>A	c.(961-963)aaG>aaA	p.K321K	MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.K320K			Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627000													7	38					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942720	154942720	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:154942720C>T	ENST00000448116.2	-	1	503	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.V95I	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	95				V -> D (in Ref. 2; AAB49972).	activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGCCCCTACGATCCCCTCC	0.687000													9	106					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	122					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	293076	293076	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:293076C>T	ENST00000409479.1	+	7	1523	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409548.2_Intron			Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	419					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGACACCTCACGTGTGCCAGC	0.612000													13	114					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38157097	38157097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:38157097G>A	ENST00000317025.8	-	15	3140	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	875					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GAATGGTCCTGAACTATCAGC	0.393000			T	NUP98	AML								10	47					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728369	104728369	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423000													16	51					0	0	1	0	0
GRIN2A	0	broad.mit.edu	37	16	10273944	10273944	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:10273944C>T	ENST00000396573.2	-	3	634	c.325G>A	c.(325-327)Gta>Ata	p.V109I	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	109					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCTGGGCTACGGCCTCCTGG	0.612000													11	108					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812119	109812119	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:109812119C>T	ENST00000271332.3	+	21	6947	c.6886C>T	c.(6886-6888)Cgg>Tgg	p.R2296W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2296					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTTCTGCCCCGGGCCCTGGA	0.592000													4	91					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294000													3	46					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600022	3600022	+	Silent	SNP	G	G	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr5:3600022G>C	ENST00000302006.3	+	2	1012	c.960G>C	c.(958-960)gcG>gcC	p.A320A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTCGCTGGCGGAGACAGCCA	0.786000													2	7					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832183	39832183	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572000													10	57					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCGGGTCATTTTCAAAGAC	0.403000													13	115					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934381	38934381	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr19:38934381C>T	ENST00000355481.4	+	5	500	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000359596.3_Silent_p.S123S|RYR1_ENST00000360985.3_Silent_p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCACCTCCCGCTCCATGA	0.647000													9	93					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:14304154G>A	ENST00000571589.1	+	4	381	c.209G>A	c.(208-210)gGc>gAc	p.G70D	MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000341243.5_Missense_Mutation_p.G59D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493000													9	81					0	0	1	0	0
POLR2J4	0	broad.mit.edu	37	7	44012847	44012847	+	RNA	SNP	G	G	A	rs144729196	by1000genomes	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:44012847G>A	ENST00000427076.1	-	0	969					NR_003655.2																						AAGCCACAGCGTGGAAGGTGG	0.612000													3	24					0	0	1	0	0
HMGN2P46	0	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													6	21					5.18039e-06	5.43941e-06	1	1	0
GMCL1	64395	broad.mit.edu	37	2	70068104	70068104	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr2:70068104G>A	ENST00000282570.3	+	4	763	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	171	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCACTGTATCGAGATGATGTC	0.388000													4	48					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	by1000genomes	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr9:43625382G>A	ENST00000332857.6	-	4	3333	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTGTGAATAGGGGGAAACAT	0.483000													6	135					0	0	1	0	0
CSAG4	0	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													5	127					1.23904e-05	1.26926e-05	1	1	0
LRRC37A11P	0	broad.mit.edu	37	17	37188037	37188037	+	RNA	SNP	A	A	G	rs34112047	by1000genomes	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:37188037A>G	ENST00000425901.2	+	0	1879					NR_033753.2																						GCCAGGATCAAGCTCAGCATC	0.512000													3	54					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:56558126C>G	ENST00000394023.3	-	29	3448	c.3343G>C	c.(3343-3345)Gtt>Ctt	p.V1115L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1079	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662000													7	108					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72495650	72495650	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:72495650G>A	ENST00000477973.1	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438000													4	32					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607000													11	87					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18313152	18313152	+	Silent	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:18313152T>C	ENST00000396253.3	-	15	2397	c.1935A>G	c.(1933-1935)ggA>ggG	p.G645G	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433000									Hermansky-Pudlak syndrome				11	123					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:84628962G>A	ENST00000284136.6	-	17	2171	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	710					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCTCAACCGTGACTCAGCC	0.488000													6	100					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:144681434T>C	ENST00000321385.3	+	1	1361	c.1214T>C	c.(1213-1215)cTc>cCc	p.L405P	TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	454					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667000													6	25					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473000													6	42					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532000													11	89					0	0	1	0	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159818785	159818785	+	RNA	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:159818785G>A	ENST00000497452.1	-	0	517																											CAGCCTCTTCGAAGACAAAAA	0.493000													7	222					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S|SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338000													3	28					0.115264	0.115264	1	1	0
CHAT	1103	broad.mit.edu	37	10	50835782	50835782	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr10:50835782G>A	ENST00000395562.2	+	8	1285	c.816G>A	c.(814-816)acG>acA	p.T272T	CHAT_ENST00000337653.2_Silent_p.T354T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000455728.2_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000339797.1_Silent_p.T236T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			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)	GCCTGCTGACGTCTGACGGGA	0.592000													7	71					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862844	31862844	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:31862844C>T	ENST00000396184.3	-	15	1629	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PDE1C_ENST00000321453.7_Silent_p.S475S|PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396191.1_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	475	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGCATCTGACGAGCTGATGC	0.438000													7	60					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728369	104728369	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423000													16	51					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24419567	24419567	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:24419567C>T	ENST00000330966.7	-	10	1125	c.963G>A	c.(961-963)aaG>aaA	p.K321K	MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627000													7	38					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942720	154942720	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:154942720C>T	ENST00000448116.2	-	1	503	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.V95I|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	95				V -> D (in Ref. 2; AAB49972).	activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGCCCCTACGATCCCCTCC	0.687000													9	106					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	293076	293076	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr11:293076C>T	ENST00000409479.1	+	7	1523	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409548.2_Intron			Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	419					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGACACCTCACGTGTGCCAGC	0.612000													13	114					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38157097	38157097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr8:38157097G>A	ENST00000317025.8	-	15	3140	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*	WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	875					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GAATGGTCCTGAACTATCAGC	0.393000			T	NUP98	AML								10	47					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	111					0	0	1	0	0
GRIN2A	0	broad.mit.edu	37	16	10273944	10273944	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr16:10273944C>T	ENST00000396573.2	-	3	634	c.325G>A	c.(325-327)Gta>Ata	p.V109I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	109					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCTGGGCTACGGCCTCCTGG	0.612000													11	108					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812119	109812119	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:109812119C>T	ENST00000271332.3	+	21	6947	c.6886C>T	c.(6886-6888)Cgg>Tgg	p.R2296W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2296					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTTCTGCCCCGGGCCCTGGA	0.592000													4	91					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294000													3	46					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832183	39832183	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000559234.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572000													10	57					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCGGGTCATTTTCAAAGAC	0.403000													13	115					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934381	38934381	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr19:38934381C>T	ENST00000355481.4	+	5	500	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000359596.3_Silent_p.S123S|RYR1_ENST00000360985.3_Silent_p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCACCTCCCGCTCCATGA	0.647000													9	93					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr16:14304154G>A	ENST00000571589.1	+	4	381	c.209G>A	c.(208-210)gGc>gAc	p.G70D	MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D|MKL2_ENST00000341243.5_Missense_Mutation_p.G59D|MKL2_ENST00000574045.1_Missense_Mutation_p.G70D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493000													9	81					0	0	1	0	0
POLR2J4	0	broad.mit.edu	37	7	44012847	44012847	+	RNA	SNP	G	G	A	rs144729196	by1000genomes	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:44012847G>A	ENST00000427076.1	-	0	969					NR_003655.2																						AAGCCACAGCGTGGAAGGTGG	0.612000													3	24					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73056936	73056936	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:73056936C>T	ENST00000261180.4	+	19	3132	c.3036C>T	c.(3034-3036)gaC>gaT	p.D1012D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1012					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTACCAAGACGAGCTTTTCC	0.388000													6	66					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70068104	70068104	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr2:70068104G>A	ENST00000282570.3	+	4	763	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	171	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCACTGTATCGAGATGATGTC	0.388000													4	48					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607000													11	87					0	0	1	0	0
LRRC37A11P	0	broad.mit.edu	37	17	37188037	37188037	+	RNA	SNP	A	A	G	rs34112047	by1000genomes	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr17:37188037A>G	ENST00000425901.2	+	0	1879					NR_033753.2																						GCCAGGATCAAGCTCAGCATC	0.512000													3	54					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:56558126C>G	ENST00000394023.3	-	29	3448	c.3343G>C	c.(3343-3345)Gtt>Ctt	p.V1115L	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1079	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662000													7	108					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72495650	72495650	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr3:72495650G>A	ENST00000477973.1	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438000													4	32					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18313152	18313152	+	Silent	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr11:18313152T>C	ENST00000396253.3	-	15	2397	c.1935A>G	c.(1933-1935)ggA>ggG	p.G645G	HPS5_ENST00000349215.3_Silent_p.G759G|HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433000									Hermansky-Pudlak syndrome				11	123					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:84628962G>A	ENST00000284136.6	-	17	2171	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	710					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCTCAACCGTGACTCAGCC	0.488000													6	100					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr8:144681434T>C	ENST00000321385.3	+	1	1361	c.1214T>C	c.(1213-1215)cTc>cCc	p.L405P	TIGD5_ENST00000504548.2_Missense_Mutation_p.L454P			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	454					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667000													6	25					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473000													6	42					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000541565.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532000													11	89					0	0	1	0	0
CTD-2049J23.2	0	broad.mit.edu	37	3	159818785	159818785	+	RNA	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr3:159818785G>A	ENST00000497452.1	-	0	517																											CAGCCTCTTCGAAGACAAAAA	0.493000													7	222					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S|SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338000													3	28					0.115264	0.115264	1	1	0
CHAT	1103	broad.mit.edu	37	10	50835782	50835782	+	Silent	SNP	G	G	A			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr10:50835782G>A	ENST00000395562.2	+	8	1285	c.816G>A	c.(814-816)acG>acA	p.T272T	CHAT_ENST00000351556.3_Silent_p.T236T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000455728.2_Silent_p.T236T|CHAT_ENST00000339797.1_Silent_p.T236T|CHAT_ENST00000337653.2_Silent_p.T354T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			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)	GCCTGCTGACGTCTGACGGGA	0.592000													7	71					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862844	31862844	+	Silent	SNP	C	C	T			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:31862844C>T	ENST00000396184.3	-	15	1629	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000396191.1_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S|PDE1C_ENST00000321453.7_Silent_p.S475S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	475	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGCATCTGACGAGCTGATGC	0.438000													7	60					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21266775	21266783	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs17240441		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr2:21266775_21266783delGCAGCGCCA	ENST00000233242.1	-	1	162_170	c.35_43delTGGCGCTGC	c.(34-45)cct>c	p.LALP12del	APOB_ENST00000399256.4_In_Frame_Del_p.LALP12del	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	12				Missing (in Ref. 5; AAB60718/CAA28420).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	agcagcgcaggcagcgccagcagcgccag	0.794													2	4	---	---	---	---					
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)cfs	p.L418fs	FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.530													3	3	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													10	120	---	---	---	---					
NAA25	80018	broad.mit.edu	37	12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cta>ct	p.LL621del		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399													8	65	---	---	---	---					
HEATR5A	25938	broad.mit.edu	37	14	31841095	31841095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr14:31841095delG	ENST00000543095.2	-	13	2066	c.1882delC	c.(1882-1884)acfs	p.H628fs	HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	622							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCACCACAGTGGGAAACAAAG	0.408													2	4	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs45603533	by1000genomes	TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													8	15	---	---	---	---					
APOB	338	broad.mit.edu	37	2	21266775	21266783	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs17240441		TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr2:21266775_21266783delGCAGCGCCA	ENST00000233242.1	-	1	162_170	c.35_43delTGGCGCTGC	c.(34-45)cct>c	p.LALP12del	APOB_ENST00000399256.4_In_Frame_Del_p.LALP12del	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	12				Missing (in Ref. 5; AAB60718/CAA28420).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	agcagcgcaggcagcgccagcagcgccag	0.794													2	4	---	---	---	---					
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)cfs	p.L418fs	FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.530													3	3	---	---	---	---					
NAA25	80018	broad.mit.edu	37	12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cta>ct	p.LL621del		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399													8	65	---	---	---	---					
HEATR5A	25938	broad.mit.edu	37	14	31841095	31841095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr14:31841095delG	ENST00000543095.2	-	13	2066	c.1882delC	c.(1882-1884)acfs	p.H628fs	HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs|HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.H622fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	622							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCACCACAGTGGGAAACAAAG	0.408													2	4	---	---	---	---