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
CDK12	51755	broad.mit.edu	37	17	37619371	37619371	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37619371G>A	ENST00000447079.4	+	1	1079		c.e1+1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACTCCCCAGGTGAGCTATTT	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			18	43					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193305	179193305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179193305C>T	ENST00000292599.3	+	2	1557	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	432					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATGGCAGCAGACGGGGCC	0.612000													5	278					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57550233	57550233	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:57550233T>C	ENST00000258214.2	-	7	1637	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	464										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CAGCTCCTTCTTGAGCTCCTC	0.667000													3	25					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56232402	56232402	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:56232402C>T	ENST00000322569.4	-	6	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	MMP19_ENST00000548629.1_Missense_Mutation_p.A272T|MMP19_ENST00000409200.3_Missense_Mutation_p.A213T	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	295	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGCATCATGGCATCCAGTTCA	0.607000													40	36					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62489335	62489335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:62489335G>A	ENST00000541428.1	-	16	1218	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	ASPH_ENST00000379454.4_Missense_Mutation_p.A382V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	382					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAATACCTGCGCCTTCCCATA	0.378000													37	62					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150667007	150667007	+	Missense_Mutation	SNP	C	C	T	rs142449284	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:150667007C>T	ENST00000335230.3	-	6	919	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	SLC36A3_ENST00000377713.3_Missense_Mutation_p.V211M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	170						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGGTCACGTGGGCTTTT	0.468000													5	45					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032024	197032024	+	Silent	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:197032024A>G	ENST00000367412.1	-	2	271	c.228T>C	c.(226-228)tgT>tgC	p.C76C		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	76	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTGTTGTACACGTGGTTT	0.378000													27	136					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													4	44					0.150653	0.15276	1	1	0
TRBV5-7	0	broad.mit.edu	37	7	142111685	142111685	+	RNA	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:142111685G>A	ENST00000390378.1	-	0	50																											CGTCCACTGGGCCTGTGGGAA	0.552000													7	302					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915939	72915939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:72915939C>T	ENST00000319642.1	-	2	1174	c.992G>A	c.(991-993)cGc>cAc	p.R331H		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	331					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCATCCTCGCGGCCCAGTCC	0.677000													6	339					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218520075	218520075	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:218520075T>C	ENST00000366929.4	+	1	499	c.32T>C	c.(31-33)aTc>aCc	p.I11T	TGFB2_ENST00000366930.4_Missense_Mutation_p.I11T	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	11					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTTCTGATCCTGCATCTG	0.443000													9	93					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800112	152800112	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:152800112G>T	ENST00000335123.2	+	1	164	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	55	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGCTCCAGCTCTGGGGGC	0.667000													12	80					1.15088e-07	1.35673e-07	1	1	0
FAM83C	128876	broad.mit.edu	37	20	33875239	33875239	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33875239C>T	ENST00000374408.3	-	4	1439	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	448										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGCCGGGAGCGAGGAAGCAG	0.647000													14	44					0	0	1	0	0
IGHV3OR16-9	0	broad.mit.edu	37	16	32077613	32077613	+	RNA	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:32077613G>A	ENST00000354689.6	+	0	228				RP11-1166P10.6_ENST00000566806.1_RNA																							ACAACGCCAAGAACTCACTGT	0.507000													70	898					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105150791	105150791	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:105150791G>A	ENST00000303694.5	+	3	708	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	90					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GACACGTGCCGAGCCAACAGC	0.582000													3	22					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177909845	177909845	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:177909845G>A	ENST00000308284.6	-	17	2116	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	676					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGTTTCTCTGCTAGCTGTGC	0.517000													6	27					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678240	66678240	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:66678240A>G	ENST00000360242.5	+	7	1450	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445A	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	445										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGCAGAACTGACTCATGCAAA	0.343000													9	42					0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600404	131600404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:131600404C>A	ENST00000436267.2	-	7	795	c.646G>T	c.(646-648)Gaa>Taa	p.E216*	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Nonsense_Mutation_p.E72*|CCBL1_ENST00000302586.3_Nonsense_Mutation_p.E122*			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	122					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)	AAAAAGGGTTCGATGATGATG	0.532000													17	303					2.23348e-06	2.53012e-06	1	1	0
P4HA1	5033	broad.mit.edu	37	10	74804782	74804782	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:74804782T>C	ENST00000412021.2	-	10	1438	c.1105A>G	c.(1105-1107)Ata>Gta	p.I369V	P4HA1_ENST00000263556.3_Intron|P4HA1_ENST00000394890.2_Missense_Mutation_p.I369V|P4HA1_ENST00000307116.2_Missense_Mutation_p.I369V|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000373008.2_Intron	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	369						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCTGTTATTGGGTTTGAA	0.388000													9	53					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192240	41192240	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:41192240C>T	ENST00000220509.5	+	4	1563	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	408					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGAACCGCTTCGATCTGGCCA	0.632000													7	106					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038327	34038327	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34038327C>A	ENST00000382499.2	-	17	2187	c.2188G>T	c.(2188-2190)Gct>Tct	p.A730S	SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.A691S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	691	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCCCTGCAGCAAAGTGGCTA	0.428000													6	36					3.59834e-05	4.01353e-05	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20975100	20975100	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:20975100T>C	ENST00000261383.3	-	53	10105	c.10106A>G	c.(10105-10107)gAc>gGc	p.D3369G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3369					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGTAGCTTGTCCTTCTCAAA	0.488000													5	121					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104442877	104442877	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:104442877T>C	ENST00000297579.5	+	6	1395	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	221					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GACAGGAATATAGTACTGTAC	0.368000													66	113					0	0	1	0	0
ZBTB22	0	broad.mit.edu	37	6	33283001	33283001	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:33283001G>A	ENST00000431845.2	-	2	1844	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	ZBTB22_ENST00000418724.1_Missense_Mutation_p.R565C	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGTGCCGGCGCTCACAGTGT	0.672000													8	63					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011306	141011306	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:141011306C>T	ENST00000508812.1	+	5	2582	c.675C>T	c.(673-675)caC>caT	p.H225H	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Silent_p.H234H|ACPL2_ENST00000502783.1_Silent_p.H196H|ACPL2_ENST00000393007.1_Silent_p.H218H|ACPL2_ENST00000504264.1_Silent_p.H217H|ACPL2_ENST00000286353.4_Silent_p.H234H			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	234						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATTTCAGGCACCAGCCAAGTG	0.488000													5	60					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64897328	64897328	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:64897328G>C	ENST00000526060.1	-	14	1657	c.1465C>G	c.(1465-1467)Cga>Gga	p.R489G	SYVN1_ENST00000307289.6_Missense_Mutation_p.R438G|SYVN1_ENST00000377190.3_Missense_Mutation_p.R490G|SYVN1_ENST00000294256.8_Missense_Mutation_p.R489G			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	490					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCCAGAGCTCGTAGCTCCTCT	0.662000													16	37					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907408	11907408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:11907408C>T	ENST00000376480.3	-	2	310	c.212G>A	c.(211-213)gGg>gAg	p.G71E	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	71					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCAGCCCCCGCTTCTTC	0.602000													7	75					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245852063	245852063	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:245852063C>A	ENST00000366518.4	+	9	4739	c.4635C>A	c.(4633-4635)ggC>ggA	p.G1545G	KIF26B_ENST00000407071.2_Silent_p.G1926G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1926					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCGTGGGCGGCAGGTGCC	0.716000													10	21					0.0581538	0.060664	1	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12855601	12855601	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12855601C>A	ENST00000332296.7	+	4	984	c.881C>A	c.(880-882)cCc>cAc	p.P294H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P49H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	294										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGAACCCCTTGGAGAAC	0.463000													11	138					3.07112e-06	3.45203e-06	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576638	158576638	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:158576638A>G	ENST00000361284.1	+	1	410	c.410A>G	c.(409-411)aAt>aGt	p.N137S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCCACATGAATCCTACCCTC	0.512000													29	64					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46692051	46692051	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:46692051C>T	ENST00000239144.4	-	1	250	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	HOXB8_ENST00000576562.1_Missense_Mutation_p.V6I|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						AGTGAGTTGACGAAATAAGAG	0.592000													6	22					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50369276	50369276	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:50369276C>G	ENST00000315520.5	+	4	1008	c.671C>G	c.(670-672)gCc>gGc	p.A224G	AQP6_ENST00000551733.1_Missense_Mutation_p.A50G	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	224					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGATGGGAGCCCTCCTGGCC	0.637000													7	216					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70209171	70209171	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:70209171G>A	ENST00000269503.4	-	3	998	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Silent_p.D75D	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	75						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGACGGCGCCGTCCGCCGACG	0.706000													14	13					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187157946	187157946	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:187157946G>T	ENST00000264690.6	+	5	527	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.D114Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	114	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTGCCATCGAGACATTTATAA	0.373000													31	41					6.04164e-23	7.55205e-23	1	1	0
TDRKH	11022	broad.mit.edu	37	1	151748667	151748667	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:151748667C>T	ENST00000368822.1	-	8	1755	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	TDRKH_ENST00000368825.3_Silent_p.R329R|TDRKH_ENST00000368827.6_Silent_p.R374R|TDRKH_ENST00000440583.2_Silent_p.R150R|TDRKH_ENST00000368823.1_Silent_p.R370R|TDRKH_ENST00000368824.3_Silent_p.R374R|TDRKH_ENST00000458431.2_Silent_p.R374R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	374	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCGAGGACCCGGGCTCGAT	0.507000													7	76					0	0	1	0	0
FAM5C	0	broad.mit.edu	37	1	190129985	190129985	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:190129985T>A	ENST00000367462.3	-	7	1228	c.997A>T	c.(997-999)Aat>Tat	p.N333Y	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.N231Y	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		333						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGGAAATAATTCATAGGTAGC	0.299000													17	44					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21110078	21110078	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:21110078C>T	ENST00000269221.3	+	17	1691	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Silent_p.L479L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	527	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCACGTCCTCAGCGACTCCA	0.403000													37	242					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784292	160784292	+	Silent	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:160784292C>G	ENST00000263285.5	+	4	843	c.813C>G	c.(811-813)ctC>ctG	p.L271L	LY9_ENST00000368041.2_Silent_p.L231L|LY9_ENST00000341032.4_Silent_p.L271L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	271	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGCACTCCCAGCCTGCC	0.547000													28	74					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41282353	41282353	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:41282353C>T	ENST00000357137.4	+	4	710	c.626C>T	c.(625-627)cCc>cTc	p.P209L	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P186L|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P209L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	209					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGATGAGGCCCTCACATGCA	0.458000													37	56					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092708	39092708	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:39092708G>A	ENST00000209718.3	-	2	572	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	50	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCAGCTCCGCGTGGTGAAG	0.687000													7	147					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|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	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		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)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	58					0	0	1	0	0
EMX1	2016	broad.mit.edu	37	2	73145426	73145426	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:73145426G>A	ENST00000258106.6	+	1	823	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						CTCCTTCTTCGGCGCCCAGCA	0.706000													5	41					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202227	56202227	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:56202227A>T	ENST00000361673.3	-	5	5405	c.5192T>A	c.(5191-5193)aTt>aAt	p.I1731N		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1731							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGACAAAATTTTCTTCTT	0.488000													19	108					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328565	48328565	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:48328565C>A	ENST00000319988.1	+	1	791	c.791C>A	c.(790-792)gCt>gAt	p.A264D		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCACCCTGGCTGCTGACAAA	0.478000													6	167					0.0381472	0.0400822	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139391807	139391807	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:139391807C>T	ENST00000277541.6	-	34	6459	c.6384G>A	c.(6382-6384)ccG>ccA	p.P2128P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2128					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			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)		TGCCCCCCAGCGGGGCTCCGT	0.706000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	61					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155119202	155119202	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrX:155119202T>C	ENST00000286448.6	+	2	238	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	VAMP7_ENST00000460621.1_Missense_Mutation_p.F25L|VAMP7_ENST00000262640.6_Missense_Mutation_p.F25L|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	25	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAGGAAACTTCCTGGAGGT	0.453000													15	69					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564645	179564645	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179564645C>T	ENST00000393371.2	-	2	541	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R82Q			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	82	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGACCCGGGCCAGGAG	0.637000													7	48					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074327	143074327	+	Silent	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:143074327A>G	ENST00000367603.2	-	10	8000	c.7258T>C	c.(7258-7260)Ttg>Ctg	p.L2420L	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Silent_p.L2420L|HIVEP2_ENST00000012134.2_Silent_p.L2420L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAAAGTCCAACTGCTTGTCA	0.428000													10	246					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432774	117432774	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:117432774C>T	ENST00000160373.3	-	4	567	c.476G>A	c.(475-477)cGc>cAc	p.R159H	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	159										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCCTCAAGGCGGGCAGCCAG	0.507000													8	110					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906107	5906107	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:5906107G>T	ENST00000316987.2	+	1	607	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCATTAAGATCAACATAA	0.453000													13	161					2.27111e-07	2.65573e-07	1	1	0
IL27RA	9466	broad.mit.edu	37	19	14150414	14150414	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:14150414G>C	ENST00000263379.2	+	3	438	c.313G>C	c.(313-315)Gtc>Ctc	p.V105L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	105					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAAACTCCTTGTCTGGGGCAC	0.607000													29	91					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265435	10265435	+	Splice_Site	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:10265435C>A	ENST00000418404.3	-	4	668	c.505_splice	c.e4+1	p.D169_splice	MYH13_ENST00000570743.1_Splice_Site_p.D169_splice|MYH13_ENST00000252172.4_Splice_Site_p.D169_splice			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	169	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTACTCACCAGTCAGCATG	0.468000													8	188					1.58986e-06	1.82961e-06	1	1	0
CAMK4	814	broad.mit.edu	37	5	110814199	110814199	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:110814199G>T	ENST00000282356.4	+	9	1220	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CAMK4_ENST00000512453.1_Missense_Mutation_p.K274N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	274	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAAATGCCAAGGACTTGGTAA	0.303000													9	35					0.000274275	0.000301287	1	1	0
CNTROB	116840	broad.mit.edu	37	17	7842864	7842864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7842864G>T	ENST00000380262.3	+	8	1886	c.961G>T	c.(961-963)Gag>Tag	p.E321*	CNTROB_ENST00000565740.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000563694.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.E321*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	321					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCTGAGGTTGGAGGCAGAACA	0.582000													24	110					1.42536e-11	1.73678e-11	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													4	50					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18709695	18709695	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:18709695G>A	ENST00000392386.3	-	3	607	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	138	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGATGTTGACGGGTTTCTCTG	0.632000													15	78					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417976	105417976	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105417976G>A	ENST00000333244.5	-	7	3931	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1271						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCAGCTTGGGGCCCCTGAC	0.622000													6	220					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358721	72358721	+	Silent	SNP	G	G	A	rs150053969		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:72358721G>A	ENST00000441259.1	-	3	916	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PRF1_ENST00000373209.2_Silent_p.N252N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	252	MACPF.		N -> S (in FHL2; dbSNP:rs28933375).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTCCACCTCGTTGTCCGTGA	0.637000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				11	69					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241713007	241713007	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241713007G>T	ENST00000366559.4	+	3	466	c.155G>T	c.(154-156)aGa>aTa	p.R52I	KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R52I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	52					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	p.R52I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ACACGTGGAAGAAGCATTAAC	0.423000													25	92					1.33986e-20	1.66051e-20	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105405095	105405095	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105405095C>A	ENST00000333244.5	-	7	16812	c.16693G>T	c.(16693-16695)Gat>Tat	p.D5565Y	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D563Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5565						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTGGAGATCTCCAGAAATG	0.502000													5	32					1	1	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	31					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816063	23816063	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:23816063C>T	ENST00000264867.2	-	8	1162	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	348					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTCCGGCCCTTTCTTGGT	0.532000													26	53					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921640	130921640	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:130921640G>T	ENST00000261655.4	-	10	1965	c.1802C>A	c.(1801-1803)cCa>cAa	p.P601Q	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P509Q|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P509Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	601	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACTTGCTAATGGCTTTGATTG	0.652000													4	14					0.00024832	0.000274858	1	1	0
ZMYM4	9202	broad.mit.edu	37	1	35884163	35884163	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:35884163C>T	ENST00000314607.6	+	29	4509	c.4429C>T	c.(4429-4431)Ctg>Ttg	p.L1477L	ZMYM4_ENST00000373297.2_Silent_p.L1388L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1477					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGTTTTACCTGTCAAAATG	0.413000													4	50					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700314	33700314	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:33700314G>A	ENST00000336934.5	-	7	2102	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	STARD13_ENST00000399365.3_Silent_p.G544G|STARD13_ENST00000255486.4_Silent_p.G654G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	662					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGAGAGGAACGCCAAAGACAG	0.488000													26	158					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681558	44681558	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:44681558G>C	ENST00000381176.4	-	4	481	c.349C>G	c.(349-351)Ctt>Gtt	p.L117V		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	117						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TAATACAAAAGGTCCAGAACC	0.532000													53	268					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24617597	24617597	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:24617597G>A	ENST00000324103.6	+	3	790	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	157	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGCTGCTTCGGACAGAGCTC	0.547000													12	38					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25481559	25481559	+	Missense_Mutation	SNP	C	C	T	rs140736402	by1000genomes	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:25481559C>T	ENST00000278886.6	-	8	1022	c.949G>A	c.(949-951)Gat>Aat	p.D317N	NINL_ENST00000422516.1_Missense_Mutation_p.D317N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	317					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGAACCATCGTCAATGCTG	0.582000													5	64					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	803627	803627	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:803627G>A	ENST00000356948.6	+	3	529	c.106G>A	c.(106-108)Gct>Act	p.A36T	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.A36T|PTBP1_ENST00000394601.4_Missense_Mutation_p.A36T	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	36					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAACTCGGCTTCTGCAGG	0.547000													4	125					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122700259	122700259	+	Silent	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:122700259T>C	ENST00000306467.5	-	18	2815	c.2511A>G	c.(2509-2511)gcA>gcG	p.A837A	CEP120_ENST00000306481.6_Silent_p.A811A|CEP120_ENST00000328236.5_Silent_p.A837A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	837						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TAGACTTAGTTGCAGATTCCA	0.338000													13	63					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736000													3	21					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	993363	993363	+	Silent	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:993363C>T	ENST00000537687.1	+	18	5221	c.4578C>T	c.(4576-4578)agC>agT	p.S1526S	WNK1_ENST00000340908.4_Silent_p.S859S|WNK1_ENST00000530271.2_Silent_p.S1764S|WNK1_ENST00000315939.6_Silent_p.S1266S|WNK1_ENST00000535572.1_Silent_p.S1019S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1266					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCCAGAAAGCCGATTACGAG	0.408000													4	139					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85799876	85799876	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:85799876G>T	ENST00000521268.1	+	8	1828	c.723G>T	c.(721-723)ctG>ctT	p.L241L	RALYL_ENST00000522455.1_Silent_p.L241L|RALYL_ENST00000523850.1_Silent_p.L168L|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Silent_p.L230L|RALYL_ENST00000517638.1_Silent_p.L254L|RALYL_ENST00000521695.1_Silent_p.L241L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	241							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTCTAGTGCTGATCCAAGAGG	0.498000													15	108					4.7546e-09	5.69767e-09	1	1	0
ZNF781	163115	broad.mit.edu	37	19	38160483	38160483	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:38160483G>A	ENST00000358582.4	-	4	1315	c.567C>T	c.(565-567)ctC>ctT	p.L189L	ZNF781_ENST00000590008.1_Silent_p.L189L|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CTCTGGTGTTGAGTAAGTGTT	0.368000													12	68					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785550	209785550	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:209785550C>A	ENST00000009105.1	+	11	1574	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	CAMK1G_ENST00000361322.2_Silent_p.A443A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	443			A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation).			Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCAAAAAGGCCAACAAAAAAC	0.527000													8	56					0.00307968	0.0033078	1	1	0
ZNF587	84914	broad.mit.edu	37	19	58370783	58370783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:58370783C>T	ENST00000339656.5	+	3	1185	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*	ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q334*|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q292*	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATCTTTTGGTCAAAAGGGTAA	0.443000													32	75					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113782	94113782	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:94113782A>T	ENST00000243673.2	-	4	976	c.805T>A	c.(805-807)Tgt>Agt	p.C269S	GPR83_ENST00000539203.2_Missense_Mutation_p.C227S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	269						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCATATTACACAGCCACAGT	0.522000													26	25					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380242	147380242	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:147380242T>C	ENST00000240986.4	+	2	213	c.160T>C	c.(160-162)Tgc>Cgc	p.C54R	GJA8_ENST00000369235.1_Missense_Mutation_p.C54R	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	54					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGACTTCGTGTGCAACACCCA	0.592000													5	60					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395392	94395392	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:94395392A>G	ENST00000267594.5	+	3	1254	c.947A>G	c.(946-948)cAc>cGc	p.H316R	FAM181A_ENST00000556222.1_Missense_Mutation_p.H254R|FAM181A_ENST00000557000.2_Missense_Mutation_p.H254R|FAM181A_ENST00000557719.1_Missense_Mutation_p.H254R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	316										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAGCTGGCGCACCTCTGCAAG	0.667000													15	57					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337674	33337674	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33337674T>C	ENST00000374796.2	-	10	4894	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	NCOA6_ENST00000359003.2_Missense_Mutation_p.N775S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	775	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGATGGACTGTTGTTCACAGG	0.557000													10	57					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140267046	140267046	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:140267046T>G	ENST00000275884.6	-	8	2036	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	DENND2A_ENST00000537639.1_Missense_Mutation_p.K540T|DENND2A_ENST00000496613.1_Missense_Mutation_p.K540T|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	540										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCCGGGACTTCACGTTGAC	0.562000													11	76					0	0	1	0	0
VDAC1	7416	broad.mit.edu	37	5	133326754	133326754	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:133326754G>A	ENST00000265333.3	-	4	453	c.209C>T	c.(208-210)aCg>aTg	p.T70M	VDAC1_ENST00000395044.3_Missense_Mutation_p.T70M|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T70M	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	70					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTCTGTAAACGTCAGGCCGTA	0.458000													20	124					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206760350	206760350	+	Silent	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:206760350T>C	ENST00000338603.2	+	7	1224	c.1167T>C	c.(1165-1167)taT>taC	p.Y389Y	RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000355294.4_3'UTR|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	0	SARAH.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCAGatttatttgtattatt	0.463000													7	27					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7137547	7137547	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7137547C>T	ENST00000005340.5	-	1	317	c.35G>A	c.(34-36)gGg>gAg	p.G12E	DVL2_ENST00000575458.1_Missense_Mutation_p.G12E	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	12	DIX.|Poly-Gly.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTTCGTCTCCCCAACCCCACC	0.667000													8	100					0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99901591	99901591	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:99901591C>T	ENST00000301981.3	+	8	986	c.746C>T	c.(745-747)tCa>tTa	p.S249L	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.S180L|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S249L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	249										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCCTTTTCATCAGGGCAGCGA	0.488000											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	16					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	44					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148786095	148786095	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:148786095G>T	ENST00000336498.3	+	6	824	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	195	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAAGTTTGAGTTTGTGGAAC	0.378000													14	41					3.27435e-08	3.89165e-08	1	1	0
CERS6	253782	broad.mit.edu	37	2	169417809	169417809	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:169417809G>A	ENST00000305747.6	+	3	971	c.384G>A	c.(382-384)acG>acA	p.T128T	CERS6_ENST00000392687.4_Silent_p.T128T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	128						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGCCAAGCACGCTGACGAGGT	0.448000													71	48					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241912941	241912941	+	Missense_Mutation	SNP	C	C	T	rs76254601	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241912941C>T	ENST00000366552.2	+	13	1864	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	WDR64_ENST00000437684.2_Missense_Mutation_p.R553C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	553										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTGCCTACGACGCCTCATTTT	0.532000													29	83					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228379	21228379	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:21228379G>A	ENST00000233242.1	-	26	11488	c.11361C>T	c.(11359-11361)ccC>ccT	p.P3787P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3787					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTTTACCTCGGGGAGTGTTG	0.398000													94	103					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170843819	170843819	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:170843819C>T	ENST00000436636.2	-	17	2239	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	TNIK_ENST00000475336.1_Missense_Mutation_p.R548H|TNIK_ENST00000369326.5_Missense_Mutation_p.R603H|TNIK_ENST00000470834.1_Missense_Mutation_p.R603H|TNIK_ENST00000341852.6_Missense_Mutation_p.R548H|TNIK_ENST00000284483.8_Missense_Mutation_p.R632H|TNIK_ENST00000357327.5_Missense_Mutation_p.R603H|TNIK_ENST00000538048.1_Missense_Mutation_p.R577H|TNIK_ENST00000460047.1_Missense_Mutation_p.R577H|TNIK_ENST00000488470.1_Missense_Mutation_p.R577H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	632	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATCTCCACGCGGTGGGAGGT	0.577000													40	63					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12030871	12030871	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12030871A>G	ENST00000196061.4	+	17	1927	c.1900A>G	c.(1900-1902)Agg>Ggg	p.R634G	PLOD1_ENST00000376369.3_Missense_Mutation_p.R681G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	634					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTACTACACCAGGGTGGGCAA	0.607000													3	36					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186648456	186648456	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:186648456G>T	ENST00000367468.5	-	2	303	c.167C>A	c.(166-168)aCa>aAa	p.T56K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	56					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AAACTTACGTGTTGAGCAGTT	0.428000													4	64					0.150653	0.15276	1	1	0
TUB	7275	broad.mit.edu	37	11	8120328	8120328	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:8120328T>C	ENST00000305253.4	+	10	1428	c.1187T>C	c.(1186-1188)tTc>tCc	p.F396S	TUB_ENST00000534099.1_Missense_Mutation_p.F347S|TUB_ENST00000299506.2_Missense_Mutation_p.F341S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	341					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCACCAAGTTCACTGTTTAT	0.502000											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	144					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264042	48264042	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48264042G>T	ENST00000225964.5	-	48	3891	c.3773C>A	c.(3772-3774)aCc>aAc	p.T1258N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1258	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GTCACGGCAGGTGCGGGCGGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						16	148					4.7546e-09	5.69767e-09	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60435606	60435606	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:60435606T>G	ENST00000400324.4	-	22	2892	c.2672A>C	c.(2671-2673)gAa>gCa	p.E891A	DIAPH3_ENST00000267215.4_Missense_Mutation_p.E891A|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E845A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E821A|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E891A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E880A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	891	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTACTTCTCTTCACATATTTC	0.368000													7	58					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823024	70823024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:70823024G>A	ENST00000353151.3	-	5	654	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	215				TQPLAPVHN -> PEPSTTZABH (in Ref. 6; AA sequence).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCAAGTGGCTGAGTCACAGGG	0.463000													4	54					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:167095768G>A	ENST00000361200.2	+	6	1566	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R467H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGGCGCCGCGCAGACTCG	0.652000													3	33					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359718	52359718	+	Silent	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:52359718C>A	ENST00000356297.4	-	12	1471	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	PXDNL_ENST00000543296.1_Silent_p.G457G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	457	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGGAGCTGCCCTCCTGCAA	0.517000													6	111					0.00198382	0.00214667	1	1	0
QKI	9444	broad.mit.edu	37	6	163899929	163899929	+	Splice_Site	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:163899929G>T	ENST00000361752.3	+	3	953		c.e3+1		QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000361195.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TAAAAAAAAGGTAAGTCCTTG	0.348000													9	42					0.00829132	0.00884001	1	1	0
CPXM1	56265	broad.mit.edu	37	20	2775056	2775056	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:2775056C>T	ENST00000380605.2	-	14	2049	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	662					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTCAGCAGACGCCAATAATC	0.602000													9	43					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126783459	126783459	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:126783459G>A	ENST00000373615.4	+	4	1548	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	270						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AAGCGCATGCGCACGTCCTTC	0.572000													7	92					0	0	1	0	0
IGLV7-46	0	broad.mit.edu	37	22	22724333	22724333	+	RNA	SNP	T	T	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:22724333T>C	ENST00000390295.2	+	0	263																											CAACAAACACTCCTGGACACC	0.562000													5	29					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257856	158257856	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:158257856T>A	ENST00000296526.7	+	11	2126	c.1801T>A	c.(1801-1803)Tcc>Acc	p.S601T	GRIA2_ENST00000393815.2_Missense_Mutation_p.S554T|GRIA2_ENST00000264426.9_Missense_Mutation_p.S601T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554T|GRIA2_ENST00000449365.1_Missense_Mutation_p.S554T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	601					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCTCTGGTTTTCCTTGGGTGC	0.428000													22	137					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418650	105418650	+	Silent	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105418650G>A	ENST00000333244.5	-	7	3257	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1046						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.617000													36	181					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5214707	5214707	+	Silent	SNP	G	G	A	rs144200009	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:5214707G>A	ENST00000372412.4	-	29	4595	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D	PTPRS_ENST00000262963.6_Silent_p.D1433D|PTPRS_ENST00000587303.1_Silent_p.D1453D|PTPRS_ENST00000353284.2_Silent_p.D1006D|PTPRS_ENST00000348075.2_Silent_p.D1415D|PTPRS_ENST00000357368.4_Silent_p.D1453D|PTPRS_ENST00000592099.1_Silent_p.D1006D|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.D1415D			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1453	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ACCGGTAGCCGTCCACGTAGT	0.612000													3	34					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17835965	17835965	+	Silent	SNP	T	T	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:17835965T>G	ENST00000324096.4	+	4	562	c.411T>G	c.(409-411)ccT>ccG	p.P137P	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.P111P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	137	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCTTCTCGCCTCACCACTTCC	0.607000													5	121					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636284	44636284	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:44636284A>G	ENST00000262894.6	+	5	1797	c.1517A>G	c.(1516-1518)cAc>cGc	p.H506R	ZNF225_ENST00000590612.1_Missense_Mutation_p.H506R|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGTAGAGTCCACAGTGGAGAA	0.378000													13	98					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657000													12	141					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747660	167747660	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:167747660C>G	ENST00000470487.1	-	10	2030	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q419H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	447	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						gctgctgttcctgctgccgta	0.647000													19	92					0	0	1	0	0
PANK3	79646	broad.mit.edu	37	5	167995897	167995897	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:167995897T>A	ENST00000239231.6	-	2	451	c.135A>T	c.(133-135)ttA>ttT	p.L45F		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	45					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GAATACTTTTTAAACTCTCAA	0.413000													8	115					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577338	109577338	+	Missense_Mutation	SNP	C	C	A	rs142445607	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:109577338C>A	ENST00000338432.7	+	2	247	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	ACACB_ENST00000377848.3_Missense_Mutation_p.P43Q|ACACB_ENST00000377854.5_Missense_Mutation_p.P43Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	43					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACCTCATCCCGAGCCAGGAG	0.542000													5	142					0.000602214	0.00065655	1	1	0
SLC10A2	6555	broad.mit.edu	37	13	103701641	103701641	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:103701641C>A	ENST00000245312.3	-	5	1513	c.917G>T	c.(916-918)gGa>gTa	p.G306V		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	306					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCCTTACATCCTAAGAATAT	0.428000													20	87					3.51602e-12	4.32053e-12	1	1	0
SLC4A1	6521	broad.mit.edu	37	17	42333044	42333044	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:42333044G>T	ENST00000262418.6	-	14	1952	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	599	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGCTGACCTTGCCAGGGAAAT	0.577000													8	62					3.09899e-07	3.59482e-07	1	1	0
GPR156	165829	broad.mit.edu	37	3	119962486	119962486	+	Splice_Site	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:119962486C>T	ENST00000464295.1	-	3	679		c.e3+1		GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156							integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGCTGCTTACCTGTTCTTCC	0.433000													56	79					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101505340	101505340	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:101505340G>A	ENST00000392979.3	+	23	2558		c.e23-1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATTTGAATAGGAATTTGGTA	0.333000										HNSCC(74;0.22)			17	36					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12673405	12673405	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:12673405C>A	ENST00000262127.2	-	12	2164	c.1939G>T	c.(1939-1941)Gtt>Ttt	p.V647F	CEP76_ENST00000423709.2_Missense_Mutation_p.V572F|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	647					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGATCCAAACAGCACATGCA	0.378000													20	95					1.87028e-06	2.13536e-06	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47426763	47426763	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:47426763C>G	ENST00000426342.1	-	9	1755	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P	MDGA2_ENST00000399232.2_Missense_Mutation_p.A635P|MDGA2_ENST00000439988.2_Missense_Mutation_p.A566P|MDGA2_ENST00000357362.3_Missense_Mutation_p.A337P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	566					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTGGATAGGCTCTCAGTACT	0.473000													20	73					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263140	48263140	+	Splice_Site	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48263140G>A	ENST00000225964.5	-	50	4365	c.4248_splice	c.e50+1	p.T1416_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1416	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGCACTCACCGTGCAGCCATC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						11	59					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102484976	102484976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:102484976C>T	ENST00000321521.9	+	8	1438	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R289*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Nonsense_Mutation_p.R289*			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	289					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAATGCACGAGAGAAATT	0.378000													12	58					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417821	54417821	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:54417821A>C	ENST00000391767.1	+	3	476	c.264A>C	c.(262-264)gaA>gaC	p.E88D	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88D|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88D			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	88					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTGACGGAAAACACGGAGA	0.547000													9	59					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690150	75690150	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:75690150G>A	ENST00000300086.4	+	3	938	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	281	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						AACTATGTGTGATGATGATCC	0.433000													34	55					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409473	105409473	+	Silent	SNP	G	G	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105409473G>T	ENST00000333244.5	-	7	12434	c.12315C>A	c.(12313-12315)gcC>gcA	p.A4105A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4105						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGCTCTCGGGGCCTGGACGT	0.577000													147	233					1.33848e-58	1.68764e-58	1	1	0
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1363509	1363510	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:1363509_1363510insT	ENST00000446702.2	+	8	1564_1565	c.937_938insT	c.(937-939)tttfs	p.F313fs	CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.F241fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F313fs			Q9UQ52	CNTN6_HUMAN	contactin 6	313					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGTCAACTCATTTTTTATGGT	0.351													34	80	---	---	---	---					
ITPR1	3708	broad.mit.edu	37	3	4808388	4808388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:4808388delA	ENST00000354582.6	+	44	6024	c.5674delA	c.(5674-5676)aafs	p.K1893fs	ITPR1_ENST00000357086.4_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.K1845fs|ITPR1_ENST00000443694.2_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.K1860fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1908					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)		CCCATCACGGAAAAAAGGTAA	0.428													7	35	---	---	---	---					
ADAM29	11086	broad.mit.edu	37	4	175898787	175898788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:175898787_175898788insA	ENST00000359240.3	+	5	2781_2782	c.2111_2112insA	c.(2110-2112)aaafs	p.K704fs	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.K704fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	704					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTAAACCAATAAAAAAGCAGC	0.342													8	53	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7190821	7190825	+	RNA	DEL	CCATA	CCATA	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:7190821_7190825delCCATA	ENST00000606573.1	-	0	703																											TGACATGCAGCCATACATGTCTCAG	0.498													8	13	---	---	---	---					
TSTD2	158427	broad.mit.edu	37	9	100389704	100389705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:100389704_100389705insT	ENST00000341170.4	-	2	522_523	c.140_141insA	c.(139-141)aaafs	p.K47fs	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	47										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						ACGAGTATTTCTTTTTTGTACT	0.342													23	70	---	---	---	---					
GPAM	57678	broad.mit.edu	37	10	113920533	113920534	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:113920533_113920534insA	ENST00000348367.4	-	16	1784_1785	c.1587_1588insT	c.(1585-1590)tcaagafs	p.R530fs	GPAM_ENST00000423155.1_Frame_Shift_Ins_p.R530fs|GPAM_ENST00000369425.1_Frame_Shift_Ins_p.R530fs			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	530					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACTACATCTTCTGAATTTCCTG	0.446													18	45	---	---	---	---					
ZDHHC24	254359	broad.mit.edu	37	11	66307206	66307206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:66307206delG	ENST00000310442.3	-	3	883	c.649delC	c.(649-651)atfs	p.H217fs	ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	217	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGCATCCCATGGAAGAGCAGC	0.652													12	26	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													7	8	---	---	---	---					
CRIP1	1396	broad.mit.edu	37	14	105954583	105954583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105954583delG	ENST00000330233.7	+	2	1064	c.121delG	c.(121-123)ggfs	p.G42fs	CRIP1_ENST00000409393.2_Frame_Shift_Del_p.G42fs|CRIP1_ENST00000551180.1_Frame_Shift_Del_p.W9fs|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.G42fs			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	42	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCTGACCTCTGGGGGCCACGC	0.652													10	94	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595	by1000genomes	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)del	p.GQGQ199del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	199	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783													4	4	---	---	---	---					
RPL19	6143	broad.mit.edu	37	17	37357515	37357517	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37357515_37357517delAAG	ENST00000579260.1	+	2	452_454	c.49_51delAAG	c.(49-51)del	p.K19del	RPL19_ENST00000225430.4_In_Frame_Del_p.K21del|RPL19_ENST00000579374.1_In_Frame_Del_p.K18del|RPL19_ENST00000582193.1_In_Frame_Del_p.K19del			P84098	RL19_HUMAN	ribosomal protein L19	21					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CCGCTGTGGCAAGAAGAAGGTCT	0.493													18	127	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37627847	37627860	+	Frame_Shift_Del	DEL	ACTCACTCAAAGAC	ACTCACTCAAAGAC	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37627847_37627860delACTCACTCAAAGAC	ENST00000447079.4	+	2	1795_1808	c.1762_1775delACTCACTCAAAGAC	c.(1762-1776)afs	p.THSKT588fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.THSKT588fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	588					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCCTTCTACTCACTCAAAGACATCTGCTGTG	0.491			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			78	170	---	---	---	---					
SON	6651	broad.mit.edu	37	21	34922689	34922689	+	Frame_Shift_Del	DEL	G	G	-	rs140536115		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34922689delG	ENST00000356577.4	+	3	1627	c.1152delG	c.(1150-1152)ccfs	p.P384fs	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Frame_Shift_Del_p.P384fs|SON_ENST00000300278.4_Frame_Shift_Del_p.P384fs|SON_ENST00000290239.6_Frame_Shift_Del_p.P384fs	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	384					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGGAGTTGCCGGGGCCACCTG	0.642													24	103	---	---	---	---					
ZDHHC8P1	0	broad.mit.edu	37	22	23742494	23742495	+	RNA	INS	-	-	G			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:23742494_23742495insG	ENST00000255890.4	-	0	714_715																											GGGCAGTGCATGGGGGGGCAAA	0.663													7	22	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37480809	37480809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:37480809delG	ENST00000381792.2	-	9	1184	c.1044delC	c.(1042-1044)ccfs	p.P348fs	TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.P357fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.P357fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	357	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGTAGTAGCTGGGGAAGTACG	0.637													2	4	---	---	---	---					
