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
CHEK2	11200	broad.mit.edu	37	22	29091787	29091787	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr22:29091787G>C	ENST00000544772.1	-	12	1943	c.507C>G	c.(505-507)taC>taG	p.Y169*	CHEK2_ENST00000403642.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000405598.1_Nonsense_Mutation_p.Y390*|CHEK2_ENST00000348295.3_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000402731.1_Nonsense_Mutation_p.Y361*|CHEK2_ENST00000382580.2_Nonsense_Mutation_p.Y433*|CHEK2_ENST00000382578.1_Nonsense_Mutation_p.Y299*|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Nonsense_Mutation_p.Y390*|CHEK2_ENST00000404276.1_Nonsense_Mutation_p.Y390*	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	390	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAGGCGCCAAGTAGGTGGGGG	0.423000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	95					0	0	0.335167	0	0
SP140	11262	broad.mit.edu	37	2	231135315	231135315	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:231135315G>A	ENST00000392045.3	+	15	1573	c.1459G>A	c.(1459-1461)Gca>Aca	p.A487T	SP140_ENST00000417495.3_Missense_Mutation_p.A373T|SP140_ENST00000486687.2_Missense_Mutation_p.A411T|SP140_ENST00000420434.3_Missense_Mutation_p.A460T|SP140_ENST00000350136.5_Missense_Mutation_p.A356T|SP140_ENST00000343805.6_Missense_Mutation_p.A427T	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	487					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTGGATATTGCAAACAACTC	0.308000													12	141					0	0	0.500413	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	239					0	0	0.150653	0	0
GYS1	2997	broad.mit.edu	37	19	49488755	49488755	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr19:49488755G>A	ENST00000323798.3	-	5	982	c.786C>T	c.(784-786)acC>acT	p.T262T	GYS1_ENST00000540532.1_Silent_p.T182T|GYS1_ENST00000541188.1_Silent_p.T182T|GYS1_ENST00000263276.6_Silent_p.T198T|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	262					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCTCGATGGCGGTGATCTGGG	0.582000													3	74					0	0	0.115264	0	0
PSMB7	5695	broad.mit.edu	37	9	127177679	127177679	+	Missense_Mutation	SNP	G	G	A	rs143961480		TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:127177679G>A	ENST00000536392.1	-	1	42	c.26C>T	c.(25-27)cCa>cTa	p.P9L	PSMB7_ENST00000259457.3_Missense_Mutation_p.P9L			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						TCCAACTGGTGGAGCATACAC	0.607000											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	76					0	0	0.115264	0	0
XRN2	22803	broad.mit.edu	37	20	21346221	21346221	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr20:21346221G>A	ENST00000377191.3	+	26	2430	c.2335G>A	c.(2335-2337)Gca>Aca	p.A779T	XRN2_ENST00000430571.2_Missense_Mutation_p.A703T|XRN2_ENST00000539513.1_Missense_Mutation_p.A725T	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	779					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AAAGCCAGCAGCAGTACTGAA	0.438000													3	103					0	0	0.115264	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	67					0	0	0.150653	0	0
GON4L	54856	broad.mit.edu	37	1	155796629	155796629	+	Splice_Site	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:155796629C>T	ENST00000437809.1	-	3	818	c.697_splice	c.e3+1	p.M232_splice	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Splice_Site_p.M232_splice|GON4L_ENST00000271883.5_Splice_Site_p.M232_splice|GON4L_ENST00000368331.1_Splice_Site_p.M232_splice			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	232					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGCCTACCCATTGGAATGA	0.383000													5	77					0	0	0.217242	0	0
PTCH1	5727	broad.mit.edu	37	9	98229625	98229625	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:98229625G>A	ENST00000430669.2	-	15	2720	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	PTCH1_ENST00000429896.2_Missense_Mutation_p.T627M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T627M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T777M|PTCH1_ENST00000418258.1_Missense_Mutation_p.T627M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T712M|PTCH1_ENST00000331920.6_Missense_Mutation_p.T778M			Q13635	PTC1_HUMAN	patched 1	778					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.T778M(2)|p.T777M(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAATGTCCGTAAGGTCCAG	0.473000													4	152					0	0	0.150653	0	0
E2F3	1871	broad.mit.edu	37	6	20402610	20402610	+	Silent	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741000													3	75					0	0	0.115264	0	0
SNHG14	0	broad.mit.edu	37	15	25230184	25230184	+	RNA	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr15:25230184G>A	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						ACTATCTGCAGGAATTTATTT	0.373000													3	61					0	0	0.115264	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			85	172					0	0	0.870114	0	0
DIRAS2	0	broad.mit.edu	37	9	93375575	93375575	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:93375575C>A	ENST00000375765.3	-	2	923	c.535G>T	c.(535-537)Gac>Tac	p.D179Y		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	179					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.D179N(1)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TTTTTCCCGTCGATCTGGAGA	0.547000													3	58					0.115264	0.123123	0.115264	1	0
PCDHGB4	0	broad.mit.edu	37	5	140768722	140768722	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:140768722A>G	ENST00000519479.1	+	1	1271	c.1271A>G	c.(1270-1272)gAt>gGt	p.D424G	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCAACAGATCGGGGCAAG	0.448000													7	191					0	0	0.278610	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67211930	67211930	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67211930G>A	ENST00000290881.7	-	7	2160	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	KIAA0895L_ENST00000561621.1_Silent_p.C408C|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561679.1_Silent_p.L257L|KIAA0895L_ENST00000563902.1_Silent_p.L412L			Q68EN5	K895L_HUMAN	KIAA0895-like	412										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AGTGAGGTCAGCAACGGGAAA	0.607000													3	88					0	0	0.115264	0	0
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000405486.1_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562000													4	45					0	0	0.150653	0	0
PDE1A	0	broad.mit.edu	37	2	183387037	183387037	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:183387037G>T	ENST00000435564.1	-	1	267	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.Q23K|PDE1A_ENST00000331935.6_Missense_Mutation_p.Q23K|PDE1A_ENST00000456212.1_Missense_Mutation_p.Q23K|PDE1A_ENST00000410103.1_Missense_Mutation_p.Q23K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	23					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTTCAGTCTGTTCTCCTGTA	0.398000													23	123					5.61819e-17	6.77064e-17	0.693898	1	0
CROCCP2	0	broad.mit.edu	37	1	16957414	16957414	+	RNA	SNP	C	C	T	rs2296161	by1000genomes	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:16957414C>T	ENST00000412962.1	-	0	264																											AAGTGCAGGGCGGAGAGAATC	0.706000													3	27					0	0	0.115264	0	0
PRPF3	9129	broad.mit.edu	37	1	150307507	150307507	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:150307507G>A	ENST00000324862.6	+	7	995	c.830G>A	c.(829-831)cGc>cAc	p.R277H	PRPF3_ENST00000414970.2_Missense_Mutation_p.R228H|PRPF3_ENST00000543398.1_Missense_Mutation_p.R142H|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	277					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGACACACCGCATGCCTACT	0.458000													3	51					0	0	0.115264	0	0
PRPF38B	55119	broad.mit.edu	37	1	109235326	109235326	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:109235326C>T	ENST00000370025.4	+	1	382	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PRPF38B_ENST00000370021.1_5'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.A38V|PRPF38B_ENST00000467302.1_3'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	38					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ACCAAGCCGGCGGTCTCCGGC	0.667000													4	49					0	0	0.150653	0	0
MCTP2	55784	broad.mit.edu	37	15	94858758	94858758	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr15:94858758G>A	ENST00000357742.4	+	3	529	c.528_splice	c.e3-1	p.V177_splice	MCTP2_ENST00000543482.1_Splice_Site_p.V177_splice|MCTP2_ENST00000451018.3_Splice_Site_p.V177_splice|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	177					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATCTGTGCAGGTACCGGGGGA	0.512000													3	39					0	0	0.150653	0	0
KDM6B	23135	broad.mit.edu	37	17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr17:7750709G>C	ENST00000254846.5	+	10	1585	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_ENST00000448097.2_Missense_Mutation_p.S399T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	399	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S399T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672000													4	167					0	0	0.150653	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:90162555C>T	ENST00000567960.1	+	0	1291				TUBB8P7_ENST00000564451.1_RNA																							ATGCCACGGCCGAGGAGGAGG	0.522000													4	192					0	0	0.217242	0	0
CELF2	10659	broad.mit.edu	37	10	11299727	11299727	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr10:11299727G>A	ENST00000379261.4	+	5	501	c.409G>A	c.(409-411)Gga>Aga	p.G137R	CELF2_ENST00000537122.1_Missense_Mutation_p.G26R|CELF2_ENST00000354440.2_Missense_Mutation_p.G113R|CELF2_ENST00000427450.1_Missense_Mutation_p.G113R|CELF2_ENST00000450189.1_Missense_Mutation_p.G144R|CELF2_ENST00000354897.3_Missense_Mutation_p.G113R|CELF2_ENST00000416382.2_Missense_Mutation_p.G137R|CELF2_ENST00000399850.3_Missense_Mutation_p.G113R|CELF2_ENST00000315874.3_Missense_Mutation_p.G113R|CELF2_ENST00000542579.1_Missense_Mutation_p.G144R|CELF2_ENST00000417956.2_Missense_Mutation_p.G113R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	137	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATTGTTCATAGGAATGGTATC	0.418000													10	72					0	0	0.387290	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130825338	130825338	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:130825338C>A	ENST00000509018.1	-	15	1946	c.1741G>T	c.(1741-1743)Gta>Tta	p.V581L	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V581L|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V296L|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V581L|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V581L|FNIP1_ENST00000514667.1_Missense_Mutation_p.V631L|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V581L|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V581L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	581	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGTCCATTTACTTCCATAATC	0.259000													3	34					0.115264	0.123123	0.115264	1	0
QPRT	23475	broad.mit.edu	37	16	29708392	29708392	+	Missense_Mutation	SNP	G	G	A	rs147793931	byFrequency	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:29708392G>A	ENST00000395384.4	+	3	786	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Missense_Mutation_p.V61M	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	209					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCAGGAGGCCGTGCAGGCAGC	0.657000													3	31					0	0	0.150653	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734288	12734288	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:12734288A>G	ENST00000380682.1	+	15	2216	c.1710A>G	c.(1708-1710)atA>atG	p.I570M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	570					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGCCCAGATAACATACATAG	0.468000													10	201					0	0	0.361761	0	0
PNCK	139728	broad.mit.edu	37	X	152936612	152936612	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:152936612G>A	ENST00000393831.2	-	8	1151	c.717C>T	c.(715-717)agC>agT	p.S239S	PNCK_ENST00000447676.2_Silent_p.S299S|PNCK_ENST00000370150.1_Silent_p.S216S|PNCK_ENST00000340888.3_Silent_p.S216S|PNCK_ENST00000370142.1_Silent_p.S239S|PNCK_ENST00000370145.4_Silent_p.S233S	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	216	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGGGTCGCTCTCGTCGT	0.602000													51	124					0	0	0.870114	0	0
DISC1	27185	broad.mit.edu	37	1	231885806	231885806	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr1:231885806C>T	ENST00000439617.2	+	4	1305	c.1252C>T	c.(1252-1254)Cgt>Tgt	p.R418C	DISC1_ENST00000539444.1_Missense_Mutation_p.R418C|DISC1_ENST00000602281.1_Missense_Mutation_p.R418C|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.R418C|DISC1_ENST00000537876.1_Missense_Mutation_p.R418C|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.R418C|DISC1_ENST00000602873.1_Missense_Mutation_p.R68C|DISC1_ENST00000366636.4_Missense_Mutation_p.R418C	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	418	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCCTTGCGCCGTGGGGCCAC	0.527000													5	94					0	0	0.217242	0	0
ITPR1	3708	broad.mit.edu	37	3	4824425	4824425	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr3:4824425G>C	ENST00000354582.6	+	49	6815	c.6465_splice	c.e49+1	p.Q2155_splice	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Splice_Site_p.Q2107_splice|ITPR1_ENST00000443694.2_Splice_Site_p.Q2155_splice|ITPR1_ENST00000423119.2_Splice_Site_p.Q2122_splice|ITPR1_ENST00000357086.4_Splice_Site_p.Q2122_splice|ITPR1_ENST00000302640.8_Splice_Site_p.Q2155_splice			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2170					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TAGCCCATCAGGTATGATCTC	0.527000													4	42					0	0	0.184627	0	0
GEMIN5	25929	broad.mit.edu	37	5	154315560	154315560	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr5:154315560C>A	ENST00000285873.7	-	3	425	c.350G>T	c.(349-351)tGg>tTg	p.W117L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	117					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCGAGGAGACCAATGTAATGT	0.328000													8	41					0.0581538	0.0650768	0.335167	1	0
OR4K5	79317	broad.mit.edu	37	14	20389468	20389468	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr14:20389468A>C	ENST00000315915.4	+	1	728	c.703A>C	c.(703-705)Aag>Cag	p.K235Q		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCAATGGCAAAGGCATTTTC	0.418000													21	541					0	0	0.608945	0	0
UBASH3B	84959	broad.mit.edu	37	11	122680513	122680513	+	Silent	SNP	G	G	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr11:122680513G>A	ENST00000284273.5	+	14	2244	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	623	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GAATATGGCAGCTGACAGATC	0.443000													3	110					0	0	0.150653	0	0
SLC12A4	6560	broad.mit.edu	37	16	67979074	67979074	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:67979074C>A	ENST00000422611.2	-	22	3127	c.3088G>T	c.(3088-3090)Gtc>Ttc	p.V1030F	SLC12A4_ENST00000572037.1_Missense_Mutation_p.V980F|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V1022F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V997F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.V1028F|SLC12A4_ENST00000316341.3_Missense_Mutation_p.V1028F	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1028					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGACAATGACTTCATTGAGC	0.577000													4	146					0.00116845	0.00137292	0.217242	1	0
AC093642.5	0	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299													4	8	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	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)					2	4	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													4	4	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)ggc>g	p.EG210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.							p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													7	75	---	---	---	---					
AL162419.1	0	broad.mit.edu	37	9	4378426	4378427	+	RNA	INS	-	-	T			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr9:4378426_4378427insT	ENST00000408803.1	-	0	67_68																											GTTTGTTTATATTTTTTTCTTT	0.307													2	4	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gafs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													7	541	---	---	---	---					
DGKZ	8525	broad.mit.edu	37	11	46387931	46387933	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr11:46387931_46387933delCCT	ENST00000454345.1	+	2	250_252	c.125_127delCCT	c.(124-129)gcc>g	p.AS42del	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	42					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)		GCTGGGCAGGCCTCCTCCTCACT	0.759													6	3	---	---	---	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:677579_677580insC	ENST00000535977.1	+	7	1025_1026	c.803_804insC	c.(802-804)accfs	p.T268fs	RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													7	135	---	---	---	---					
CTD-2547E10.2	0	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													3	4	---	---	---	---					
AFG3L1P	0	broad.mit.edu	37	16	90053824	90053824	+	RNA	DEL	G	G	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr16:90053824delG	ENST00000437774.1	+	0	731					NR_003226.1																						aggtggaggaggtggaggagg	0.622													2	4	---	---	---	---					
HOXB7	3217	broad.mit.edu	37	17	46685277	46685277	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chr17:46685277delT	ENST00000239165.7	-	2	679	c.581delA	c.(580-582)agfs	p.K194fs	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	194				K -> N (in Ref. 7; AAB19469).		nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CTTGTTCTCCTTTTTCCACTT	0.592													8	497	---	---	---	---					
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A3PT-01A-12D-A21Z-08	TCGA-BJ-A3PT-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08d1b350-92cd-4a94-91f6-68734dd228f7	ca1e236e-e01e-44f2-931b-0840aa54a37f	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)tgfs	p.L496fs	HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453													16	433	---	---	---	---					
