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
GRIK3	2899	broad.mit.edu	37	1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:37282846G>A	ENST00000373091.3	-	13	1922	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R636C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	636					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCAATGATGCGTGTGGACAGG	0.562000													18	57					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754631	141754631	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:141754631G>A	ENST00000475668.2	+	27	3291	c.3237G>A	c.(3235-3237)gaG>gaA	p.E1079E	MGAM_ENST00000549489.2_Silent_p.E1079E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1079	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCACCCCTGAGGGTCAACTCT	0.448000													40	95					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445750	85445750	+	Missense_Mutation	SNP	C	C	T	rs146760470		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:85445750C>T	ENST00000316356.4	-	7	1186	c.622G>A	c.(622-624)Gca>Aca	p.A208T	SYTL2_ENST00000528231.1_Missense_Mutation_p.A207T|SYTL2_ENST00000524452.1_Missense_Mutation_p.A207T|SYTL2_ENST00000527523.1_Missense_Mutation_p.A159T|SYTL2_ENST00000389960.4_Missense_Mutation_p.A207T			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	207					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAAGTATCTGCGACAGTTGAC	0.358000													11	39					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236221	26236221	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:26236221C>G	ENST00000354667.4	-	6	737	c.569G>C	c.(568-570)aGa>aCa	p.R190T	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R178T	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	190	RRM 2.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CATTTCTTGTCTAGACAAAGC	0.333000			T	ETV1	prostate								39	96					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236812	140236812	+	Silent	SNP	G	G	A	rs148283153		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr5:140236812G>A	ENST00000307360.5	+	1	1179	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTTCCGTTCAAGCTGG	0.567000													43	140					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31844167	31844167	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr22:31844167C>T	ENST00000397525.1	-	13	2043	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATGGGTTTGCGCATGCCTTG	0.537000													4	124					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952259	33952259	+	RNA	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:33952259C>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TCTCGTCTGCCAGGGCTGGAC	0.592000													4	9					0.00024832	0.000255154	1	1	0
USP29	57663	broad.mit.edu	37	19	57640887	57640887	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:57640887C>A	ENST00000254181.4	+	4	1298	c.844C>A	c.(844-846)Caa>Aaa	p.Q282K	USP29_ENST00000598197.1_Missense_Mutation_p.Q282K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	282					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCACAGCAACTGCAGCA	0.463000													6	26					5.9392e-07	6.39606e-07	1	1	0
MAP2K1	5604	broad.mit.edu	37	15	66779609	66779609	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:66779609G>T	ENST00000307102.5	+	8	1470	c.939G>T	c.(937-939)ttG>ttT	p.L313F	MAP2K1_ENST00000566326.1_Missense_Mutation_p.L137F	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	313	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTTTTGAGTTGTTGGATTACA	0.403000													20	84					4.16121e-05	4.31533e-05	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35919265	35919265	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:35919265G>A	ENST00000490799.1	-	18	2597	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A	SLC26A8_ENST00000394602.2_Silent_p.A643A|SLC26A8_ENST00000355574.2_Silent_p.A748A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	748	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CGTTTTGAAAGGCATTGCATA	0.448000													12	52					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7951872	7951872	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:7951872G>A	ENST00000380183.4	+	14	2159	c.2020G>A	c.(2020-2022)Gtc>Atc	p.V674I	ALOX15B_ENST00000572022.1_Missense_Mutation_p.V662I|ALOX15B_ENST00000573359.1_Missense_Mutation_p.V600I|ALOX15B_ENST00000380173.2_Missense_Mutation_p.V645I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	674	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGAGAACAGCGTCTCCATCTA	0.582000													16	53					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669100	48669100	+	Splice_Site	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:48669100C>A	ENST00000352832.5	+	12	3012	c.2639_splice	c.e12-1	p.S880_splice	CACNA1G_ENST00000359106.5_Splice_Site_p.S880_splice|CACNA1G_ENST00000507896.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000354983.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000510115.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000502264.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000507510.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000507609.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000507336.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000514181.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000514079.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000358244.5_Splice_Site_p.S880_splice|CACNA1G_ENST00000505165.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000416767.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000442258.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000515765.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000360761.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000515411.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000515165.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000512389.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000513689.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000514717.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000503485.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000510366.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000513964.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000429973.2_Splice_Site_p.S880_splice	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	880					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCCCACAGCATCCTGGGCA	0.637000													10	29					1.58986e-06	1.69585e-06	1	1	0
CNKSR1	10256	broad.mit.edu	37	1	26510269	26510269	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26510269C>T	ENST00000531191.1	+	8	1036	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CNKSR1_ENST00000374253.5_Missense_Mutation_p.A275V|CNKSR1_ENST00000361530.6_Missense_Mutation_p.A268V			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	275	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAGCCAGCCGGACTCAGC	0.632000													4	98					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													3	74					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155205614	155205614	+	Missense_Mutation	SNP	C	C	T	rs121908311		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:155205614C>T	ENST00000428024.2	-	8	1487	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	GBA_ENST00000536770.1_Missense_Mutation_p.G303S|GBA_ENST00000427500.2_Missense_Mutation_p.G367S|GBA_ENST00000327247.5_Missense_Mutation_p.G416S|GBA_ENST00000368373.3_Missense_Mutation_p.G416S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	416					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCGGTCCAGCCGACCACATGG	0.547000									Gaucher disease type I				11	24					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131596044	131596044	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:131596044T>C	ENST00000436267.2	-	14	1615	c.1466A>G	c.(1465-1467)cAc>cGc	p.H489R	CCBL1_ENST00000320665.6_Missense_Mutation_p.H345R|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.H395R			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	395					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GCGGATATAGTGGTCAAAGTG	0.562000													29	51					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78286919	78286919	+	Silent	SNP	C	C	T	rs146200316		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:78286919C>T	ENST00000582970.1	+	15	2906	c.2763C>T	c.(2761-2763)aaC>aaT	p.N921N	RNF213_ENST00000508628.2_Silent_p.N970N|RNF213_ENST00000456466.1_Silent_p.N921N|RNF213_ENST00000319921.4_Silent_p.N921N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	921										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTACAAAGAACATGCTCACAT	0.468000													22	98					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33211203	33211203	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:33211203C>G	ENST00000396033.2	-	9	1245	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	ITGB1_ENST00000374956.4_Missense_Mutation_p.L370F|ITGB1_ENST00000423113.1_Missense_Mutation_p.L370F|ITGB1_ENST00000302278.3_Missense_Mutation_p.L370F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	370	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CATCAATGATCAACTGAATTA	0.323000													17	30					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32253484	32253484	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr22:32253484C>T	ENST00000400246.1	+	32	3351	c.3209C>T	c.(3208-3210)tCa>tTa	p.S1070L	DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1061L|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1061L|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S992L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S992L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1070L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1070L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S1061L			O75140	DEPD5_HUMAN	DEP domain containing 5	1061					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCGCCCAGTCAGCCGAGAGC	0.592000													8	11					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687662	21687662	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:21687662G>A	ENST00000398485.2	+	2	927	c.873G>A	c.(871-873)tcG>tcA	p.S291S	PAX1_ENST00000444366.2_Silent_p.S267S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	291					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCACACTCGGTCAGCAACA	0.677000													7	35					0	0	1	0	0
NKX6-2	84504	broad.mit.edu	37	10	134598434	134598434	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:134598434C>T	ENST00000368592.5	-	3	923	c.820G>A	c.(820-822)Ggg>Agg	p.G274R		NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN	NK6 homeobox 2	274						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		AAGGCGTCCCCCGCGCCGCCG	0.652000													10	20					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75286479	75286479	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:75286479G>A	ENST00000339859.4	-	15	2220	c.2120C>T	c.(2119-2121)tCg>tTg	p.S707L	USP54_ENST00000428547.1_Missense_Mutation_p.S557L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.S707L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	707					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTGCTGTGCGACTTTGGGAT	0.488000													16	42					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64966598	64966598	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:64966598C>T	ENST00000399262.2	-	10	5049	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1392N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1392N|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1429N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1611					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGACTTTATCATCTTTTACA	0.333000													11	23					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15669842	15669842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:15669842G>A	ENST00000281171.4	+	9	2061	c.1731G>A	c.(1729-1731)tgG>tgA	p.W577*	PTPRO_ENST00000543886.1_Nonsense_Mutation_p.W577*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.W577*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	577	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCAGAGTGGACCACCTACT	0.448000													20	76					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058397	53058397	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:53058397C>T	ENST00000359798.4	+	5	2408	c.2228C>T	c.(2227-2229)aCg>aTg	p.T743M		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGCAGCAAGACGTTCAGTCAG	0.458000													33	99					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710572	233710572	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:233710572C>G	ENST00000373566.3	+	27	3699	c.3502C>G	c.(3502-3504)Ctt>Gtt	p.L1168V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.L1168V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L1146V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L1167V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L1140V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L1146V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1146					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTTCATGCCCTTAATACGGC	0.448000													17	36					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891051	2891051	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr18:2891051C>A	ENST00000254528.3	+	4	1085	c.926C>A	c.(925-927)aCa>aAa	p.T309K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	309					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTGACCATGACAACCAACGAA	0.542000													25	87					4.26978e-12	4.68838e-12	1	1	0
DGKZ	8525	broad.mit.edu	37	11	46387882	46387882	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:46387882G>A	ENST00000454345.1	+	2	201	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000318201.8_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	26					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCAGCAGCGTGGGGCTGCC	0.706000													6	12					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149484847	149484847	+	RNA	SNP	G	G	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:149484847G>C	ENST00000378016.2	+	0	3669							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCCCCGCAGCAGCACTATG	0.657000													4	4					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102134198	102134198	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:102134198C>T	ENST00000369138.1	+	6	1411	c.921C>T	c.(919-921)ccC>ccT	p.P307P	GRIK2_ENST00000369137.3_Silent_p.P307P|GRIK2_ENST00000369134.4_Silent_p.P258P|GRIK2_ENST00000358361.3_Silent_p.P307P|GRIK2_ENST00000421544.1_Silent_p.P307P|GRIK2_ENST00000318991.6_Silent_p.P307P|GRIK2_ENST00000413795.1_Silent_p.P307P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	307					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTCCGAAACCCGATTCAGGTT	0.393000													15	54					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346803	71346803	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:71346803G>A	ENST00000413702.1	+	4	630	c.342G>A	c.(340-342)gtG>gtA	p.V114V	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.V114V|MUC7_ENST00000304887.5_Silent_p.V114V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	114	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCCATCTGTGACTTTCCCAT	0.433000													34	49					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31540540	31540540	+	Silent	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:31540540C>A	ENST00000389082.5	-	21	4086	c.3822G>T	c.(3820-3822)gtG>gtT	p.V1274V	DENND5B_ENST00000306833.6_Silent_p.V1309V|DENND5B_ENST00000536562.1_Silent_p.V1309V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1274						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTGGGTTACACATCCACTC	0.502000													5	17					0.0215528	0.0215528	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70681494	70681494	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:70681494T>A	ENST00000377844.4	-	1	1097	c.338A>T	c.(337-339)cAg>cTg	p.Q113L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	113					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGCTGGCTGCTGAGTGCCCTG	0.597000													13	49					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79319910	79319910	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:79319910G>A	ENST00000428286.1	-	8	7403	c.6203C>T	c.(6202-6204)gCa>gTa	p.A2068V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2427V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2427					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTATCTCTGCTGCTCTGCA	0.502000											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	27					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78212571	78212571	+	RNA	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572000													4	51					0	0	1	0	0
FOS	2353	broad.mit.edu	37	14	75745804	75745804	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:75745804T>C	ENST00000303562.4	+	1	328	c.119T>C	c.(118-120)aTg>aCg	p.M40T	FOS_ENST00000555242.1_Missense_Mutation_p.M40T|FOS_ENST00000556324.2_3'UTR|FOS_ENST00000554617.1_Missense_Mutation_p.M40T|FOS_ENST00000535987.1_Missense_Mutation_p.M40T	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	40					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		TTCTCCAGCATGGGCTCGCCT	0.692000													14	51					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239756	21239756	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:21239756T>C	ENST00000380222.2	-	1	222	c.179A>G	c.(178-180)gAa>gGa	p.E60G		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	60					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			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGGGGAAATTCAAAGTCATG	0.473000													4	168					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670684	131670684	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:131670684A>T	ENST00000259324.5	+	3	1764	c.1241A>T	c.(1240-1242)gAc>gTc	p.D414V	LRRC8A_ENST00000372600.4_Missense_Mutation_p.D414V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.D414V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	414					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGGACGCTGGACAAGCTCCGG	0.592000													21	100					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204034488	204034488	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:204034488A>G	ENST00000449802.1	+	38	6262	c.5929A>G	c.(5929-5931)Agc>Ggc	p.S1977G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1977							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAAATATATAGCCGACTGTT	0.333000													3	55					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	330229	330229	+	Missense_Mutation	SNP	C	C	T	rs141229734		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:330229C>T	ENST00000343164.4	-	15	1746	c.1694G>A	c.(1693-1695)cGt>cAt	p.R565H	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R473H	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	565					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CATGAGCTGACGGATTCTCTG	0.652000													5	35					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40710554	40710554	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:40710554G>A	ENST00000373198.3	-	31	4541	c.4306C>T	c.(4306-4308)Cgt>Tgt	p.R1436C	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1414C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGTTGTTACGCAGTGTTTTC	0.507000													20	60					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105892032	105892032	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:105892032C>T	ENST00000393359.2	-	8	2076	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	TGFBRAP1_ENST00000258449.1_Silent_p.L550L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	550					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CACTTTTCTGCAGGACCCAAT	0.463000													4	70					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169342916	169342916	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:169342916C>T	ENST00000511577.1	-	17	2636	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	DDX60L_ENST00000505890.1_Missense_Mutation_p.A797T|DDX60L_ENST00000260184.7_Missense_Mutation_p.A797T			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	797	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACTACCTTTGCGGGTGCAACG	0.458000													4	161					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630787	140630787	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr8:140630787C>T	ENST00000520439.1	-	2	902	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	KCNK9_ENST00000303015.1_Missense_Mutation_p.R280Q			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	280						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCGGCTGGGCCGCGGCTCCTC	0.647000													23	72					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96310926	96310926	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:96310926C>T	ENST00000344280.3	-	4	842	c.285G>A	c.(283-285)ccG>ccA	p.P95P		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	95										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCTAGGAATCGGAGCAGGAC	0.388000													11	32					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479402	25479402	+	RNA	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:25479402G>A	ENST00000453082.2	+	0	1891				SNORD115-35_ENST00000365122.1_RNA	NR_003343.1																						TTGGGTCAATGATGAGAACCT	0.493000													51	234					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702781	60702781	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:60702781G>A	ENST00000005286.4	+	10	2050	c.1897G>A	c.(1897-1899)Gac>Aac	p.D633N	TMEM132A_ENST00000453848.2_Missense_Mutation_p.D632N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	632	Binds to HSPA5/GRP78 (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTGACGGACGACAAGGTCTC	0.652000													6	15					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73990667	73990667	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:73990667G>T	ENST00000358602.4	-	18	3571	c.3455C>A	c.(3454-3456)aCa>aAa	p.T1152K	ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1039K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T901K|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1152					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGAGTGGTGTGTCCTTGGT	0.458000													29	61					7.11191e-15	8.04579e-15	1	1	0
NKG7	4818	broad.mit.edu	37	19	51875069	51875069	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:51875069G>A	ENST00000221978.5	-	4	639	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	NKG7_ENST00000600427.1_Missense_Mutation_p.H74Y|NKG7_ENST00000595217.1_3'UTR	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	154						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGCCACAGTGAGCACCCAGG	0.587000													78	197					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060949	111060949	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:111060949G>T	ENST00000369771.2	-	1	848	c.461C>A	c.(460-462)cCa>cAa	p.P154Q		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	154						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AACATTGGCTGGGCGCCGAAT	0.448000													20	60					1.56452e-12	1.73492e-12	1	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820453	179820453	+	Missense_Mutation	SNP	G	G	A	rs145359130		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:179820453G>A	ENST00000367612.3	-	4	467	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	27						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGTCTCCTGCGCCTGAGAATT	0.373000													12	28					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71418542	71418542	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:71418542C>T	ENST00000392650.3	-	15	1929	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	SDK2_ENST00000388726.3_Silent_p.V643V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	643	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTTGGGGTCCACACTGGCCA	0.577000													35	93					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110019530	110019530	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:110019530C>T	ENST00000369872.3	+	4	603	c.387C>T	c.(385-387)acC>acT	p.T129T	SYPL2_ENST00000401021.3_Silent_p.T129T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	129	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCTTCTATACCATGGCTGCCC	0.547000													13	52					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77242030	77242030	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:77242030G>A	ENST00000426126.2	+	15	2174	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.E509K|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	509					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACTCCACTGTGAGACCACTTA	0.428000													6	14					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534212	90534212	+	RNA	SNP	A	A	G	rs654472	by1000genomes	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:90534212A>G	ENST00000602681.1	+	0	958																											CCAGTGTCCAACAGGGCGGAG	0.582000													5	153					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26898043	26898043	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26898043G>A	ENST00000374168.2	+	18	1848	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R549Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R554Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R574Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	565	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAACAGCTGCGGGCTGAGAAT	0.577000													11	29					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131817922	131817922	+	Silent	SNP	G	G	A	rs114567124	by1000genomes	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:131817922G>A	ENST00000359827.3	-	31	6437	c.5475C>T	c.(5473-5475)agC>agT	p.S1825S	PLXNA4_ENST00000321063.4_Silent_p.S1825S			Q9HCM2	PLXA4_HUMAN	plexin A4	1825						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTTGGTCGCTGATGGCTG	0.507000													31	67					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56482918	56482918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:56482918C>A	ENST00000370765.6	-	23	6021	c.5914G>T	c.(5914-5916)Gag>Tag	p.E1972*	DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1371					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGTTTGTCTCATCAAAAGTT	0.438000													24	52					1.10513e-12	1.23775e-12	1	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560303	44560303	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr18:44560303C>T	ENST00000332567.4	-	1	1685	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	445					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAATCAGCGCCGGCCGCCTGC	0.592000													34	89					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97117484	97117484	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:97117484C>T	ENST00000371247.2	-	23	2221	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SORBS1_ENST00000393949.1_Missense_Mutation_p.E648K|SORBS1_ENST00000371239.1_Missense_Mutation_p.E455K|SORBS1_ENST00000277982.5_Missense_Mutation_p.E700K|SORBS1_ENST00000353505.5_Missense_Mutation_p.E529K|SORBS1_ENST00000371227.4_Missense_Mutation_p.E632K|SORBS1_ENST00000306402.6_Missense_Mutation_p.E425K|SORBS1_ENST00000347291.4_Missense_Mutation_p.E490K|SORBS1_ENST00000371249.2_Missense_Mutation_p.E516K|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371241.1_Missense_Mutation_p.E384K|SORBS1_ENST00000361941.3_Missense_Mutation_p.E678K|SORBS1_ENST00000371245.3_Missense_Mutation_p.E529K|SORBS1_ENST00000371246.2_Missense_Mutation_p.E700K|SORBS1_ENST00000354106.3_Missense_Mutation_p.E648K|SORBS1_ENST00000607232.1_Missense_Mutation_p.E445K			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	678					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			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)		ATTTGTCTCTCATTCTCCAAG	0.458000													8	22					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124359414	124359414	+	Silent	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr8:124359414T>C	ENST00000287394.5	-	16	2237	c.2130A>G	c.(2128-2130)caA>caG	p.Q710Q	ATAD2_ENST00000521903.1_Silent_p.Q28Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAACAGTGTTTTGCAGGAGTG	0.433000													27	48					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								6	77					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531385	43531385	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:43531385G>A	ENST00000430334.3	-	7	1966	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.D522D	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	611	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTCAGCTTCGTCCTGGGAGG	0.652000													19	41					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510594	5510594	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:5510594T>C	ENST00000322641.5	+	1	680	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGCCATTTCCTATGGCTT	0.502000													4	155					0	0	1	0	0
SELT	51714	broad.mit.edu	37	3	150321156	150321156	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:150321156C>T	ENST00000471696.1	+	1	82	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000477889.1_5'UTR	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		3					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TAAGATGAGGCTTCTGCTGCT	0.632000													10	22					0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68113731	68113731	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:68113731G>A	ENST00000261783.3	+	6	891	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	237					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CATTTGATCTGCTGATTGGCA	0.378000													9	31					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37234241	37234241	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:37234241C>T	ENST00000233099.5	-	29	4824	c.4729G>A	c.(4729-4731)Gct>Act	p.A1577T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1577T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1577							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGATTTAGCACTACCCACT	0.353000													34	61					0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68113732	68113732	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:68113732C>T	ENST00000261783.3	+	6	892	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	238					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	ATTTGATCTGCTGATTGGCAA	0.378000													9	30					0	0	1	0	0
SORD	6652	broad.mit.edu	37	15	45357482	45357482	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:45357482G>A	ENST00000267814.9	+	5	619	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	SORD_ENST00000558580.1_Missense_Mutation_p.V126I	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	147					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TCCTGACAATGTCACCTTTGA	0.483000													66	67					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055131	94055131	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:94055131G>A	ENST00000297268.6	+	44	3376	c.2905G>A	c.(2905-2907)Gtg>Atg	p.V969M		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	969					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.V969M(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCATGGCCCCGTGGGTCCTGC	0.537000										HNSCC(75;0.22)			6	17					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862212	122862212	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:122862212C>T	ENST00000358808.2	-	3	535	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CLIP1_ENST00000537178.1_Silent_p.K127K|CLIP1_ENST00000361654.4_Silent_p.K127K|CLIP1_ENST00000540338.1_Silent_p.K127K|CLIP1_ENST00000302528.7_Silent_p.K127K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	127					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGCTTGCACCTTCCTTGTTA	0.522000													17	82					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23345211	23345211	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:23345211G>A	ENST00000359591.4	+	5	1745	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	LRP10_ENST00000546834.1_Missense_Mutation_p.D352N	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	352	LDL-receptor class A 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGATGAGGAGGACTGCCCAGG	0.652000													11	15					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409623	30409623	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:30409623G>A	ENST00000320159.2	+	2	1428	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	351				R -> H (in Ref. 2; AAH41388).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AAACACCTCCGCACCCACAGT	0.652000													28	54					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615351	36615351	+	Missense_Mutation	SNP	C	C	T	rs144012817	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:36615351C>T	ENST00000311485.3	-	2	529	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	123					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTCTGTGCAGCGAAAAGTAAC	0.398000									Familial Hemophagocytic Lymphohistiocytosis				20	66					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28877426	28877426	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:28877426G>T	ENST00000282397.4	-	30	4146	c.3895C>A	c.(3895-3897)Cac>Aac	p.H1299N	FLT1_ENST00000543394.1_Missense_Mutation_p.H322N|FLT1_ENST00000540678.1_Missense_Mutation_p.H517N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1299					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCGCTGACGTGCCCACAGCTG	0.547000													14	46					1.05317e-09	1.1452e-09	1	1	0
DEPDC1	55635	broad.mit.edu	37	1	68943612	68943612	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:68943612T>G	ENST00000456315.2	-	11	2270	c.2156A>C	c.(2155-2157)tAc>tCc	p.Y719S	DEPDC1_ENST00000370966.5_Missense_Mutation_p.Y435S	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	719					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACAGTATGAGTAAGTTGGCAA	0.333000													41	97					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:534286C>G	ENST00000417302.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TTGCCCACACCGCCGGCGCCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			6	43					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687656	5687656	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:5687656G>T	ENST00000327087.8	-	22	2333	c.2262C>A	c.(2260-2262)ttC>ttA	p.F754L	ANO2_ENST00000356134.5_Missense_Mutation_p.F755L|ANO2_ENST00000546188.1_Missense_Mutation_p.F755L			Q9NQ90	ANO2_HUMAN	anoctamin 2	759						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.F754F(1)|p.F755F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGAGGCCACGAAGAGGGTGA	0.552000													9	18					3.86212e-05	4.04259e-05	1	1	0
SCML1	6322	broad.mit.edu	37	X	17771493	17771493	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chrX:17771493G>A	ENST00000380043.3	+	7	1218	c.890G>A	c.(889-891)gGa>gAa	p.G297E	SCML1_ENST00000380041.3_Missense_Mutation_p.G324E|SCML1_ENST00000380045.3_Missense_Mutation_p.G203E|SCML1_ENST00000398080.1_Missense_Mutation_p.G203E	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	324	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTTAAACAAGGAAAATGCTTT	0.448000													14	11					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:42052633G>A	ENST00000219905.7	+	20	7485	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q|MGA_ENST00000570161.1_Missense_Mutation_p.R2435Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2396	Helix-loop-helix motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R2484Q(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAGCGGCGGCGGCGTGGTGAA	0.438000													26	101					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150117082	150117082	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:150117082G>A	ENST00000369128.5	+	14	1840	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000369130.3_3'UTR			Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	0					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGTTGTTAGAACTCATCTC	0.507000													3	12					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67333315	67333315	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:67333315C>T	ENST00000304372.5	-	6	992	c.937G>A	c.(937-939)Gga>Aga	p.G313R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	313						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTCGGCTTCCGTCTAGCGTG	0.597000													27	57					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291632	33291632	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:33291632G>A	ENST00000280979.4	+	13	4783	c.4613G>A	c.(4612-4614)cGc>cAc	p.R1538H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1538					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAATGGATCGCATTTCATAT	0.378000													24	52					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													4	48					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85403074	85403074	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:85403074C>T	ENST00000258888.5	+	8	4806	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1547	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGTGTGTATCGGTGCACCAT	0.687000													13	49					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27878340	27878340	+	Missense_Mutation	SNP	C	C	T	rs144777795		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:27878340C>T	ENST00000374011.2	-	6	1255	c.287G>A	c.(286-288)cGc>cAc	p.R96H	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.R96H	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	96	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTGGGGCAGCGGGCCTGTGA	0.711000													34	72					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117631445	117631445	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:117631445G>A	ENST00000369466.3	+	13	2227	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	728	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCTTTGCTTCGAATAGCCTGG	0.468000													23	72					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31542369	31542369	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:31542369A>T	ENST00000389082.5	-	20	3794	c.3530T>A	c.(3529-3531)aTt>aAt	p.I1177N	DENND5B_ENST00000306833.6_Missense_Mutation_p.I1212N|DENND5B_ENST00000536562.1_Missense_Mutation_p.I1212N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1177	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGATTTCTGAATAAGGACATC	0.368000													7	13					0	0	1	0	0
SPACA7	122258	broad.mit.edu	37	13	113030772	113030772	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:113030772C>T	ENST00000283550.3	+	1	140	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	25			R -> W (in a colorectal cancer sample; somatic mutation).			extracellular region		p.R25W(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AACTGAGCTCCGGCCGAGAAC	0.607000													10	8					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071996	73071996	+	RNA	SNP	T	T	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chrX:73071996T>A	ENST00000429829.1	-	0	592					NR_001564.2																						AGAAAATTTTTAAAAAGCAGA	0.458000													7	7					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17610502	17610502	+	Silent	SNP	G	G	A	rs143484132		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:17610502G>A	ENST00000377813.1	-	9	3018	c.2715C>T	c.(2713-2715)gcC>gcT	p.A905A	RRBP1_ENST00000246043.4_Silent_p.A905A|RRBP1_ENST00000455029.2_Silent_p.A246A|RRBP1_ENST00000377807.2_Silent_p.A472A|RRBP1_ENST00000360807.4_Silent_p.A472A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	905					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGCCTTCTCGGCATCCGCCC	0.711000													10	33					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134825395	134825395	+	Missense_Mutation	SNP	G	G	T	rs143323362	by1000genomes	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:134825395G>T	ENST00000398015.3	+	4	1281	c.911G>T	c.(910-912)cGg>cTg	p.R304L	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	304	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R304Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCACCTGTCGGACCGGTTAT	0.592000													10	27					0.000442599	0.000450647	1	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46388200	46388200	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:46388200T>C	ENST00000302165.3	-	1	1176	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		ACCACAGGGGTATTCGGTGAA	0.617000													15	38					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678390	87678390	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:87678390C>T	ENST00000284262.2	+	2	1151	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	303					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCGGCGTGAGCCAGCGCTCGG	0.672000													13	49					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412375	139412375	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:139412375C>T	ENST00000277541.6	-	8	1345	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	424	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E424K(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGCATGCTCGCAGGGGTTG	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			26	63					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25924598	25924598	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:25924598C>G	ENST00000356865.6	-	21	4501	c.4390G>C	c.(4390-4392)Gat>Cat	p.D1464H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1464					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTTGTCCATCTGCAAGCTGC	0.577000													44	48					0	0	1	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122695	43122695	+	Missense_Mutation	SNP	G	G	A	rs143806708		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:43122695G>A	ENST00000344697.2	-	2	574	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	GTDC2_ENST00000441964.1_Missense_Mutation_p.R77C	NM_032806.4	NP_116195.2																					CGGCAGATGCGGTCTGTGTGC	0.612000													22	45					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953381	25953381	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:25953381G>A	ENST00000356865.6	-	11	2522	c.2411C>T	c.(2410-2412)gCg>gTg	p.A804V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	804					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTTCCGCCGCATACACGTT	0.567000													4	137					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177049	44177049	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:44177049T>C	ENST00000360029.3	-	2	1463	c.1180A>G	c.(1180-1182)Aaa>Gaa	p.K394E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	394						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGTGCTTTTTTAGAGGGGCGA	0.507000										HNSCC(17;0.042)			54	107					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887287	26887288	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26887287_26887288insCT	ENST00000374168.2	+	15	1440_1441	c.1286_1287insCT	c.(1285-1287)ttcfs	p.F429fs	RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.F418fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.F337fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.F438fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.F337fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.F413fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	429	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGGGCTCCTACTCTGAGTGCA	0.559													19	81	---	---	---	---					
SELRC1	65260	broad.mit.edu	37	1	53163987	53163990	+	Frame_Shift_Del	DEL	CATG	CATG	-			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:53163987_53163990delCATG	ENST00000371538.3	-	1	48_51	c.9_12delCATG	c.(7-12)ggfs	p.GM3fs		NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	3							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GGAAGTCCACCATGCCGGCCATGG	0.672													27	82	---	---	---	---					
FOSL2	2355	broad.mit.edu	37	2	28634913	28634922	+	Frame_Shift_Del	DEL	TAGCCCCGAG	TAGCCCCGAG	-	rs146012402	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:28634913_28634922delTAGCCCCGAG	ENST00000264716.4	+	4	1442_1451	c.579_588delTAGCCCCGAG	c.(577-588)atfs	p.ISPE193fs	FOSL2_ENST00000379619.1_Frame_Shift_Del_p.ISPE185fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.ISPE154fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	193					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGTGCAAGATTAGCCCCGAGGAGCGCCGAT	0.629													28	70	---	---	---	---					
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGATGAGGCGAAAAAAAAGGA	0.388													7	184	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629341	187629342	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:187629341_187629342insTA	ENST00000441802.2	-	2	1849_1850	c.1640_1641insTA	c.(1639-1641)tcgfs	p.S547fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	547	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCCCGGCGGTACGGCAAGCC	0.465										HNSCC(5;0.00058)			16	41	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					6	10	---	---	---	---					
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcg>tc	p.SS13del	MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	13	Poly-Ser.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655													7	62	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaa>ga	p.EE916del	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													7	187	---	---	---	---