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
ATXN2L	11273	broad.mit.edu	37	16	28845421	28845421	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:28845421C>T	ENST00000336783.4	+	16	2228	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.P687P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Silent_p.P693P|ATXN2L_ENST00000395547.2_Silent_p.P687P|ATXN2L_ENST00000570200.1_Silent_p.P687P|ATXN2L_ENST00000382686.4_Silent_p.P687P|ATXN2L_ENST00000340394.8_Silent_p.P687P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	687						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCCGGGGCCCCGGACTCATT	0.522000													9	71					0	0	0.00136819	0	0
RHOH	399	broad.mit.edu	37	4	40245228	40245228	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:40245228G>A	ENST00000381799.4	+	3	946	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RHOH_ENST00000505618.1_Silent_p.Q74Q	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	74	Interaction with ZAP70 (By similarity).				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGTCCTACCAGCAGGCAGACG	0.552000													9	36					0	0	0.000442599	0	0
MYO3A	53904	broad.mit.edu	37	10	26241128	26241128	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:26241128G>A	ENST00000265944.5	+	3	255	c.89G>A	c.(88-90)gGa>gAa	p.G30E	MYO3A_ENST00000376301.1_Missense_Mutation_p.G30E|MYO3A_ENST00000543632.1_Missense_Mutation_p.G30E|MYO3A_ENST00000376302.1_Missense_Mutation_p.G30E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	30	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTGGCAAAGGAACTTATGGG	0.323000													9	68					0	0	0.000274275	0	0
OR4K1	79544	broad.mit.edu	37	14	20404056	20404056	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:20404056C>T	ENST00000285600.4	+	1	290	c.231C>T	c.(229-231)gcC>gcT	p.A77A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTAACTTTGCCACCCCCAAGA	0.388000													18	134					0	0	0.00074312	0	0
FOXM1	2305	broad.mit.edu	37	12	2973634	2973634	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:2973634C>T	ENST00000342628.2	-	8	1231	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	FOXM1_ENST00000359843.3_Missense_Mutation_p.R373Q|FOXM1_ENST00000361953.3_Missense_Mutation_p.R358Q	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	373					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGAGCTGACCCGTGGTAGCAG	0.597000													7	36					0	0	0.000157383	0	0
EPHA1	2041	broad.mit.edu	37	7	143098582	143098582	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143098582C>T	ENST00000275815.3	-	3	353	c.267G>A	c.(265-267)ggG>ggA	p.G89G		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	89						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGCCTCCTCCCCGCGGTAGA	0.607000													30	98					0	0	0.000491102	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093971	100093971	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:100093971C>T	ENST00000284320.5	-	7	1566	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	373					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CATGCTGCCTCTTTTGATGAG	0.413000													27	133					0	0	0.000339439	0	0
PYGB	5834	broad.mit.edu	37	20	25274902	25274902	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:25274902C>T	ENST00000216962.4	+	18	2396	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	762					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TCAAGGACATCGTGAACATGC	0.592000											OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	48					0	0	0.000308642	0	0
CUBN	8029	broad.mit.edu	37	10	16911829	16911829	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:16911829G>A	ENST00000377833.4	-	59	9325	c.9260C>T	c.(9259-9261)cCc>cTc	p.P3087L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3087	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGGTGGAGGGAACCACATC	0.438000													7	37					0	0	8.12818e-05	0	0
KLK7	5650	broad.mit.edu	37	19	51483090	51483090	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:51483090G>A	ENST00000391807.1	-	5	661	c.560C>T	c.(559-561)tCc>tTc	p.S187F	CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.S187F|KLK7_ENST00000597707.1_Missense_Mutation_p.S115F|KLK7_ENST00000336317.4_Missense_Mutation_p.S74F	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	187	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GCACAGCATGGAATTTTCCAG	0.567000													3	3					0	0	6.4e-05	0	0
VWA8	23078	broad.mit.edu	37	13	42293798	42293798	+	Silent	SNP	T	T	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:42293798T>G	ENST00000379310.3	-	26	3113	c.3045A>C	c.(3043-3045)atA>atC	p.I1015I	VWA8_ENST00000281496.6_Silent_p.I1015I	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TGTTAATCAATATCTCCCTCA	0.393000													20	59					0	0	0.000586117	0	0
OTOGL	283310	broad.mit.edu	37	12	80704456	80704456	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:80704456G>A	ENST00000458043.2	+	29	3378	c.3372G>A	c.(3370-3372)aaG>aaA	p.K1124K	OTOGL_ENST00000547103.1_Silent_p.K1124K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTTATGCCAAGAAAGAATGCT	0.333000													11	72					0	0	0.00185496	0	0
PKD1L2	114780	broad.mit.edu	37	16	81222604	81222604	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:81222604C>T	ENST00000599697.1	-	10	1671		c.e10-1		PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTTATCTTTCTGCAAAAAAA	0.517000													19	56					0	0	0.00152264	0	0
WFS1	7466	broad.mit.edu	37	4	6296781	6296781	+	Silent	SNP	C	C	T	rs71524381		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:6296781C>T	ENST00000226760.1	+	7	896	c.726C>T	c.(724-726)atC>atT	p.I242I	WFS1_ENST00000503569.1_Silent_p.I242I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	242					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGAACTACATCGCGCTGGATG	0.592000													38	153					0	0	0.00148497	0	0
ABHD16A	7920	broad.mit.edu	37	6	31659677	31659677	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:31659677G>A	ENST00000395952.3	-	8	807	c.645C>T	c.(643-645)acC>acT	p.T215T	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Silent_p.T182T	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	215						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGCGCCCTAGGGTGTGCGCCA	0.627000													42	38					0	0	0.000509022	0	0
CRTAP	10491	broad.mit.edu	37	3	33171502	33171502	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:33171502C>T	ENST00000320954.6	+	4	964	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Intron	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	289						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AGGAGGCTATCCGGTTGAGAA	0.383000													12	83					0	0	0.00185496	0	0
ROBO2	6092	broad.mit.edu	37	3	77600060	77600060	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:77600060C>T	ENST00000461745.1	+	8	2051	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	ROBO2_ENST00000332191.8_Missense_Mutation_p.S384F|ROBO2_ENST00000487694.3_Missense_Mutation_p.S400F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	384	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTCAACGTTCCGACGCGGGT	0.478000													12	38					0	0	0.000978159	0	0
OR11H4	390442	broad.mit.edu	37	14	20711150	20711150	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:20711150C>T	ENST00000315409.2	+	1	253	c.200C>T	c.(199-201)aCc>aTc	p.T67I		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTACTACACACCCCCATGTAC	0.438000													8	87					0	0	0.000157383	0	0
MYO7A	4647	broad.mit.edu	37	11	76910694	76910694	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:76910694G>A	ENST00000458637.2	+	35	4835	c.4568_splice	c.e35-1	p.R1523_splice	MYO7A_ENST00000409619.2_Splice_Site_p.R1512_splice|MYO7A_ENST00000409709.3_Silent_p.R1561R	NM_001127180.1	NP_001120652.1	Q13402	MYO7A_HUMAN	myosin VIIA	1561	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGTCCTGCAGGGGAGCGAAAA	0.637000													8	13					0	0	0.000673444	0	0
CD163L1	283316	broad.mit.edu	37	12	7585176	7585176	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:7585176G>A	ENST00000313599.3	-	4	659	c.602C>T	c.(601-603)tCt>tTt	p.S201F	CD163L1_ENST00000396630.1_Missense_Mutation_p.S201F|CD163L1_ENST00000416109.2_Missense_Mutation_p.S211F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	201	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAATAAAAGAAGATGGACA	0.468000													7	48					0	0	8.12818e-05	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546506	112546506	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:112546506C>A	ENST00000488794.1	-	5	664	c.75G>T	c.(73-75)atG>atT	p.M25I	CD200R1L_ENST00000448932.1_Missense_Mutation_p.M25I|CD200R1L_ENST00000398214.1_Missense_Mutation_p.M46I			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	46						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CATTTATATCCATCAGTACAG	0.383000													7	92					0.000274275	0.00171775	0.000274275	1	0
PBX4	80714	broad.mit.edu	37	19	19680375	19680375	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:19680375G>A	ENST00000251203.8	-	5	937	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	217							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCTGCTTGCTGAAATTCCGCC	0.522000													29	119					0	0	0.000409698	0	0
SF3B3	23450	broad.mit.edu	37	16	70599046	70599046	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:70599046C>T	ENST00000302516.5	+	19	2753	c.2542C>T	c.(2542-2544)Cct>Tct	p.P848S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	848					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGAAAACCTCCCTGAATCCAT	0.532000													15	48					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179558399	179558399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179558399C>T	ENST00000589042.1	-	119	31755	c.31531G>A	c.(31531-31533)Gaa>Aaa	p.E10511K	TTN_ENST00000342992.6_Missense_Mutation_p.E9267K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10194K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10194	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACAATTTCCTTTTGTACC	0.299000													6	32					0	0	8.12818e-05	0	0
KRT3	3850	broad.mit.edu	37	12	53189772	53189772	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:53189772G>A	ENST00000417996.2	-	1	129	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	KRT3_ENST00000309505.3_Missense_Mutation_p.R19C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	19	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ACAGCAGAGCGGCCGGAGAAA	0.622000													7	32					0	0	0.000274275	0	0
SEC31A	22872	broad.mit.edu	37	4	83765663	83765663	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:83765663C>T	ENST00000432794.1	-	21	2666		c.e21-1		SEC31A_ENST00000348405.4_Splice_Site|SEC31A_ENST00000508502.1_Splice_Site|SEC31A_ENST00000505984.1_Splice_Site|SEC31A_ENST00000448323.1_Splice_Site|SEC31A_ENST00000355196.2_Splice_Site|SEC31A_ENST00000509142.1_Splice_Site|SEC31A_ENST00000311785.7_Splice_Site|SEC31A_ENST00000326950.5_Splice_Site|SEC31A_ENST00000508479.1_Splice_Site|SEC31A_ENST00000443462.2_Splice_Site|SEC31A_ENST00000500777.2_Splice_Site|SEC31A_ENST00000264405.5_Splice_Site|SEC31A_ENST00000505472.1_Splice_Site|SEC31A_ENST00000395310.2_Splice_Site|SEC31A_ENST00000513858.1_Splice_Site			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)						COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GATTTTCTCCCTAAGAAACAA	0.418000													5	32					0	0	0.000602214	0	0
PDZRN3	23024	broad.mit.edu	37	3	73438978	73438978	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:73438978G>T	ENST00000263666.4	-	7	1519	c.1405C>A	c.(1405-1407)Cgc>Agc	p.R469S	PDZRN3_ENST00000479530.1_Missense_Mutation_p.R186S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R126S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R191S|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R126S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	469	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGGATAATGCGGTCTCCTTCT	0.468000													5	87					0.00116845	0.00727623	0.00116845	1	0
OBSCN	84033	broad.mit.edu	37	1	228491568	228491568	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:228491568C>T	ENST00000570156.2	+	52	14005	c.13931C>T	c.(13930-13932)gCt>gTt	p.A4644V	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1334V|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3687	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGCCTGGCTGTGGAGGAC	0.577000													16	46					0	0	0.000422831	0	0
KCNH1	3756	broad.mit.edu	37	1	210857365	210857365	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:210857365C>T	ENST00000367007.4	-	11	2316	c.2147G>A	c.(2146-2148)aGa>aAa	p.R716K	KCNH1_ENST00000271751.4_Missense_Mutation_p.R743K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	743	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGTCGGAATCTCTGGAAGAG	0.582000													8	45					0	0	0.000978159	0	0
ABCC10	89845	broad.mit.edu	37	6	43413674	43413674	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:43413674C>T	ENST00000244533.3	+	13	3643	c.3284C>T	c.(3283-3285)aCc>aTc	p.T1095I	ABCC10_ENST00000372530.4_Missense_Mutation_p.T1123I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1123	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACAGGGGCCACCTACAGGTGT	0.617000													24	15					0	0	0.000878237	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142144055	142144055	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:142144055G>A	ENST00000390373.2	-	0	29																											GGAGAGAAAAGGCCACACAGC	0.602000													8	66					0	0	0.000442599	0	0
KDR	3791	broad.mit.edu	37	4	55955063	55955063	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:55955063C>T	ENST00000263923.4	-	26	3777	c.3482G>A	c.(3481-3483)gGa>gAa	p.G1161E	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1161	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGAGATTTCCCAAATGTTC	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	25					0	0	0.000673444	0	0
GATA3	2625	broad.mit.edu	37	10	8100409	8100409	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:8100409G>A	ENST00000379328.3	+	3	951	c.383G>A	c.(382-384)gGg>gAg	p.G128E	GATA3_ENST00000346208.3_Missense_Mutation_p.G128E|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	128					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGCTCCCCGGGGCCCCTCTCC	0.721000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						10	53					0	0	0.000978159	0	0
KIAA1524	57650	broad.mit.edu	37	3	108300998	108300998	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:108300998C>A	ENST00000295746.8	-	4	485	c.409G>T	c.(409-411)Ggt>Tgt	p.G137C	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	137						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATATTGGCACCAGAATAGAAA	0.249000													8	199					0.000978159	0.00610862	0.000978159	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291321	141291321	+	Silent	SNP	G	G	A	rs147374365	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:141291321G>A	ENST00000247452.3	-	3	800	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	151	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGAGCAGGAACTCCACTA	0.483000										HNSCC(46;0.14)			39	52					0	0	0.00111076	0	0
JMY	133746	broad.mit.edu	37	5	78610164	78610164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:78610164C>T	ENST00000396137.4	+	9	2611	c.2149C>T	c.(2149-2151)Caa>Taa	p.Q717*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	717					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TCCTGTTCTCCAAGAGGATCA	0.443000													16	36					0	0	0.000422831	0	0
GPR137	56834	broad.mit.edu	37	11	64055269	64055269	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:64055269C>T	ENST00000539851.1	+	4	951	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	GPR137_ENST00000377702.4_Missense_Mutation_p.H162Y|GPR137_ENST00000411458.1_Missense_Mutation_p.H220Y|GPR137_ENST00000438980.2_Missense_Mutation_p.H162Y|GPR137_ENST00000313074.3_Missense_Mutation_p.H162Y	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	162						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGTGCTCTCCCATCGGCGCCG	0.667000													21	37					0	0	0.000375601	0	0
TENM3	55714	broad.mit.edu	37	4	183659601	183659601	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:183659601G>A	ENST00000511685.1	+	18	3406	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	TENM3_ENST00000406950.2_Missense_Mutation_p.E1095K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.E1095*(1)									GACTCTGTGGGAAAAGAGGAC	0.468000													45	182					0	0	0.000781405	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955495	12955495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:12955495G>A	ENST00000235347.4	-	2	263	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	62										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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)		GGGAGGCTGAGGAAGGGCCAG	0.582000													27	56					0	0	0.001512	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337236	42337236	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:42337236G>A	ENST00000262418.6	-	7	705	c.550C>T	c.(550-552)Cct>Tct	p.P184S	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	184					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)		GGCTGTGAAGGATCCCCAGAG	0.622000													16	43					0	0	0.000422831	0	0
PCDH10	57575	broad.mit.edu	37	4	134071430	134071430	+	Silent	SNP	T	T	C	rs75753256	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:134071430T>C	ENST00000264360.4	+	1	961	c.135T>C	c.(133-135)atT>atC	p.I45I		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	45	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTCTGGACATTACAAAACTTT	0.522000													17	92					0	0	0.00152264	0	0
TRIML2	205860	broad.mit.edu	37	4	189020158	189020158	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:189020158G>A	ENST00000536972.1	-	5	899	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000512729.1_Intron			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	0	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATACTGGAATGAATTTTATTT	0.428000													6	16					0	0	0.00116845	0	0
CRY2	1408	broad.mit.edu	37	11	45882453	45882453	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:45882453C>T	ENST00000443527.2	+	4	607	c.585C>T	c.(583-585)gcC>gcT	p.A195A	CRY2_ENST00000417225.2_Silent_p.A113A|CRY2_ENST00000473199.1_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	174					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCTTTCAGGCCATCATCAGCC	0.577000													13	75					0	0	0.000219431	0	0
TLL2	7093	broad.mit.edu	37	10	98180793	98180793	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:98180793C>T	ENST00000357947.3	-	7	1068	c.843G>A	c.(841-843)atG>atA	p.M281I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	281	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCCCAGCTTCCATTTTTAAGA	0.478000													8	59					0	0	0.000274275	0	0
GNAT3	346562	broad.mit.edu	37	7	80108245	80108245	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:80108245C>T	ENST00000398291.3	-	4	466	c.373G>A	c.(373-375)Gag>Aag	p.E125K	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	125					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTATTACCTCAGCCAGTTGA	0.438000													27	123					0	0	0.001512	0	0
FBN1	2200	broad.mit.edu	37	15	48703468	48703468	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:48703468C>T	ENST00000316623.5	-	66	8790	c.8335G>A	c.(8335-8337)Gaa>Aaa	p.E2779K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2779					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAAGGAGTTCTAGGATTCGA	0.413000													21	92					0	0	0.00188189	0	0
ANXA10	11199	broad.mit.edu	37	4	169060698	169060698	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:169060698G>A	ENST00000359299.3	+	3	348	c.162G>A	c.(160-162)atG>atA	p.M54I		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	54							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAAGGATGATGATTGCAGAGG	0.418000													11	35					0	0	0.00136819	0	0
FRMD7	90167	broad.mit.edu	37	X	131212865	131212865	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:131212865C>T	ENST00000298542.4	-	12	1355	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	FRMD7_ENST00000464296.1_Missense_Mutation_p.E379K|FRMD7_ENST00000370879.1_Missense_Mutation_p.E274K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	394					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGAatgctccagctcagtt	0.483000													28	77					0	0	0.000339439	0	0
GRIA2	2891	broad.mit.edu	37	4	158254447	158254447	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:158254447G>A	ENST00000296526.7	+	8	1422	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	GRIA2_ENST00000507898.1_Missense_Mutation_p.G319E|GRIA2_ENST00000449365.1_Missense_Mutation_p.G319E|GRIA2_ENST00000264426.9_Missense_Mutation_p.G366E|GRIA2_ENST00000393815.2_Missense_Mutation_p.G319E	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	366					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)	GACCAGAATGGAAAAAGAATA	0.363000													5	49					0	0	0.00116845	0	0
SBK2	646643	broad.mit.edu	37	19	56041206	56041206	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:56041206C>T	ENST00000413299.1	-	4	978	c.941G>A	c.(940-942)aGg>aAg	p.R314K	SBK2_ENST00000344158.3_Missense_Mutation_p.R314K	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	314	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGCGCTCCTCCTTCGGGGGTG	0.761000													7	34					0	0	0.000157383	0	0
CNTN5	53942	broad.mit.edu	37	11	100170035	100170035	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:100170035C>T	ENST00000524871.1	+	20	2817	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.P843S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P843S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P769S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P843S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	843	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGTGTCCCTCCTCTTACTCC	0.423000													19	71					0	0	0.00152264	0	0
OR52K2	119774	broad.mit.edu	37	11	4471175	4471175	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:4471175C>T	ENST00000325719.4	+	1	651	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTATGGCATCGCTGTGGCCA	0.512000													52	124					0	0	0.000781405	0	0
DIDO1	11083	broad.mit.edu	37	20	61542525	61542525	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:61542525T>C	ENST00000266070.4	-	3	765	c.440A>G	c.(439-441)gAc>gGc	p.D147G	DIDO1_ENST00000354665.4_Missense_Mutation_p.D147G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D147G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D147G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D147G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D147G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D147G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D147G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D147G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	147					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCATCGTGGTCATCCCCTCC	0.577000													5	46					0	0	0.000602214	0	0
DDX26B	203522	broad.mit.edu	37	X	134706811	134706811	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:134706811G>A	ENST00000370752.4	+	11	1693	c.1359G>A	c.(1357-1359)gtG>gtA	p.V453V	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	453										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTAAAGTGAAAAATCATT	0.358000													17	21					0	0	0.00074312	0	0
IL10RA	3587	broad.mit.edu	37	11	117870008	117870008	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:117870008G>A	ENST00000227752.3	+	7	1509	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	IL10RA_ENST00000541785.1_Silent_p.L443L|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.L314L	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	463						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CAGGCTGCCTGGAGGAAGAAT	0.582000													13	44					0	0	0.000219431	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058153	152058153	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:152058153C>T	ENST00000368806.1	-	3	2069	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	669							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATCTCTATTTCCAGGGACTTT	0.512000													18	104					0	0	0.00188189	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827622	14827622	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:14827622C>T	ENST00000261170.3	-	8	1157	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	341					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTCCATTTTCAAGAAATATC	0.358000													24	101					0	0	0.00047179	0	0
TLR4	7099	broad.mit.edu	37	9	120475443	120475443	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:120475443C>T	ENST00000355622.6	+	3	1138	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	TLR4_ENST00000394487.4_Missense_Mutation_p.P306L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	346					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGACAGTTTCCCACATTGAAA	0.358000													14	82					0	0	0.000219431	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057317	9057317	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:9057317G>A	ENST00000383836.3	-	15	2204	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.P569S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	593	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTTTCCTTAGGAAAGAGTGGG	0.388000			T	RAF1	pilocytic astrocytoma								17	56					0	0	0.000566183	0	0
PDZRN4	29951	broad.mit.edu	37	12	41587940	41587940	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:41587940G>A	ENST00000402685.2	+	3	801	c.793G>A	c.(793-795)Gga>Aga	p.G265R		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	265	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTTAGAAAATGGACCTGCTGA	0.338000													11	52					0	0	0.00185496	0	0
LRRC48	83450	broad.mit.edu	37	17	17896134	17896134	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:17896134C>T	ENST00000313838.8	+	7	879	c.500C>T	c.(499-501)cCt>cTt	p.P167L	LRRC48_ENST00000584166.1_Missense_Mutation_p.P167L|LRRC48_ENST00000399182.1_Missense_Mutation_p.P167L|LRRC48_ENST00000399187.1_Missense_Mutation_p.P167L|LRRC48_ENST00000411504.2_Missense_Mutation_p.P167L	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	167	LRRCT.					cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCTAGGAACCCTATCTCTGAG	0.537000													9	22					0	0	0.000442599	0	0
SPEF2	79925	broad.mit.edu	37	5	35779292	35779292	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:35779292A>G	ENST00000440995.2	+	30	4276	c.4276A>G	c.(4276-4278)Agc>Ggc	p.S1426G	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1431G|SPEF2_ENST00000303129.4_5'UTR			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1431					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTTATTTAAGCCAAGAAGA	0.373000													19	54					0	0	0.00188189	0	0
ANK3	288	broad.mit.edu	37	10	61831494	61831494	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:61831494G>A	ENST00000280772.1	-	37	9336	c.9145C>T	c.(9145-9147)Cct>Tct	p.P3049S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3049					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAGAATCAGGAGATTTGGTG	0.448000													20	69					0	0	0.00121646	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879485	94879485	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:94879485C>T	ENST00000289495.5	+	8	2464	c.2248C>T	c.(2248-2250)Ctc>Ttc	p.L750F	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L750F|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L750F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L772F|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.L750F|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L750F	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	750	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAATGAGCATCTCAAAGAGAC	0.388000										HNSCC(28;0.073)			10	51					0	0	0.000978159	0	0
ADCY10	55811	broad.mit.edu	37	1	167852768	167852768	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:167852768C>T	ENST00000367848.1	-	9	1148	c.651G>A	c.(649-651)gaG>gaA	p.E217E	ADCY10_ENST00000367851.4_Silent_p.E309E|ADCY10_ENST00000545172.1_Silent_p.E156E			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	309					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGGGCCTATCTCTTCTGCTT	0.433000													16	88					0	0	0.00074312	0	0
LVRN	206338	broad.mit.edu	37	5	115336309	115336309	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:115336309C>T	ENST00000357872.4	+	9	1725	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	AQPEP_ENST00000395528.2_Missense_Mutation_p.S51F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		534					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAGACATTTTCCTACTCAAAC	0.343000													7	68					0	0	0.000274275	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255358	140255358	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140255358G>A	ENST00000398631.2	+	1	301	c.301G>A	c.(301-303)Gag>Aag	p.E101K	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGCGCGGAGTGCAGTAT	0.562000													20	182					0	0	0.00152264	0	0
ATP2A2	488	broad.mit.edu	37	12	110788103	110788103	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:110788103T>G	ENST00000308664.6	+	21	3661	c.2987T>G	c.(2986-2988)cTg>cGg	p.L996R	ATP2A2_ENST00000395494.2_3'UTR	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	0					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCAGCAATACTGGAGTAACCG	0.413000													9	45					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9061972	9061972	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9061972C>T	ENST00000397910.4	-	3	25677	c.25474G>A	c.(25474-25476)Gaa>Aaa	p.E8492K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8494	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGCACTTTCTGCTGATTCT	0.498000													29	126					0	0	0.000692331	0	0
MYH8	4626	broad.mit.edu	37	17	10293783	10293783	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:10293783G>A	ENST00000403437.2	-	40	5896	c.5802C>T	c.(5800-5802)atC>atT	p.I1934I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1934					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTCTGCACTGATTTTTGTGT	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				24	140					0	0	0.000878237	0	0
TECTA	7007	broad.mit.edu	37	11	121038915	121038915	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:121038915G>A	ENST00000392793.1	+	19	6010	c.5739G>A	c.(5737-5739)aaG>aaA	p.K1913K	TECTA_ENST00000264037.2_Silent_p.K1913K			O75443	TECTA_HUMAN	tectorin alpha	1913	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTTGTGAAGCCTATGCTAA	0.428000													11	92					0	0	0.000308642	0	0
OR9G1	390174	broad.mit.edu	37	11	56468589	56468589	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:56468589C>T	ENST00000312153.1	+	1	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.S242S(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CATGCTCCTCCCACCTGACCT	0.478000													19	234					0	0	0.000586117	0	0
TOP2A	7153	broad.mit.edu	37	17	38568043	38568043	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:38568043T>C	ENST00000423485.1	-	8	975	c.817A>G	c.(817-819)Atg>Gtg	p.M273V		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	273					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCAAATACATGTCCACATAA	0.333000													10	40					0	0	0.000219431	0	0
CSMD3	114788	broad.mit.edu	37	8	113293492	113293492	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:113293492G>C	ENST00000297405.5	-	59	9663	c.9419C>G	c.(9418-9420)tCc>tGc	p.S3140C	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3100C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2971C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3070C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3140	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCATGCAGGAATAAATGAC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	51					0	0	0.00195071	0	0
SEPT14	346288	broad.mit.edu	37	7	55863612	55863612	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:55863612C>T	ENST00000388975.3	-	10	1409	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	431					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTATTATTTCTTACGATGTT	0.373000													15	79					0	0	0.000422831	0	0
KLK5	25818	broad.mit.edu	37	19	51451958	51451958	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:51451958G>A	ENST00000336334.3	-	5	1016	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	KLK5_ENST00000593428.1_Missense_Mutation_p.P222S|KLK5_ENST00000391809.2_Missense_Mutation_p.P222S	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	222	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ATCTGTCTCGGGTAAGCATCC	0.498000													9	47					0	0	0.000673444	0	0
MARCH10	162333	broad.mit.edu	37	17	60814083	60814083	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:60814083C>T	ENST00000544856.2	-	7	1521	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.R382R|MARCH10_ENST00000583600.1_Silent_p.R420R|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Silent_p.R382R			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	382							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TAGCAGATTCCCTATCAGGCA	0.537000													20	140					0	0	0.000586117	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433367	73433367	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:73433367C>T	ENST00000263666.4	-	10	2464	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	PDZRN3_ENST00000479530.1_Missense_Mutation_p.E501K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E441K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E506K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E441K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	784							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGATGCCCTCCGCCGCTCTC	0.647000													5	21					0	0	0.00116845	0	0
C1orf127	148345	broad.mit.edu	37	1	11008189	11008189	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:11008189G>A	ENST00000377004.4	-	12	2002	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	C1orf127_ENST00000377008.4_Missense_Mutation_p.S501F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	519										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACTTGGGGTGGAGAATGTGGC	0.642000													21	26					0	0	0.00152264	0	0
ALDH3A2	224	broad.mit.edu	37	17	19575037	19575037	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:19575037C>T	ENST00000176643.6	+	9	1657	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	ALDH3A2_ENST00000339618.4_Missense_Mutation_p.S404F|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.S404F|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.S404F|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.S404F|ALDH3A2_ENST00000571163.1_Intron			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	404					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	ATTTCAGGTTCCAGTGGGATG	0.413000													17	74					0	0	0.000958276	0	0
TENM3	55714	broad.mit.edu	37	4	183673135	183673135	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:183673135G>A	ENST00000511685.1	+	20	3935	c.3812G>A	c.(3811-3813)aGa>aAa	p.R1271K	TENM3_ENST00000406950.2_Missense_Mutation_p.R1271K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GACGAGGCGAGATGTGGGGAT	0.478000													5	20					0	0	0.00116845	0	0
ASH1L	55870	broad.mit.edu	37	1	155340630	155340630	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:155340630G>A	ENST00000368346.3	-	11	7131	c.6492C>T	c.(6490-6492)ccC>ccT	p.P2164P	ASH1L_ENST00000392403.3_Silent_p.P2159P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2164	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGCTTTTAGGGGCTCTTTGG	0.453000													19	53					0	0	0.00188189	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598496	151598496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:151598496G>A	ENST00000362032.4	+	3	270	c.165G>A	c.(163-165)tgG>tgA	p.W55*	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	55						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGAAGAACTGGAACAGCAGTA	0.408000													28	137					0	0	0.001512	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435860	5435860	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:5435860C>T	ENST00000380419.3	-	4	998	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	TUBAL3_ENST00000479328.1_Missense_Mutation_p.A281T	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	321					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AGGCAGCAGGCCATGTACTTC	0.532000													8	40					0	0	0.000157383	0	0
ASMTL	8623	broad.mit.edu	37	X	1546837	1546837	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:1546837G>A	ENST00000534940.1	-	7	738	c.513C>T	c.(511-513)atC>atT	p.I171I	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Silent_p.I213I|ASMTL_ENST00000381317.3_Silent_p.I229I|ASMTL_ENST00000416733.2_Silent_p.I153I	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	229	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGCGGCCGGGATGGAGTCGT	0.677000													10	33					0	0	0.000673444	0	0
PDE6B	5158	broad.mit.edu	37	4	650079	650079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:650079C>T	ENST00000255622.6	+	8	1148	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	PDE6B_ENST00000429163.2_Nonsense_Mutation_p.Q90*|PDE6B_ENST00000496514.1_Nonsense_Mutation_p.Q369*	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	369	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTTCAAATTTCAGGTATCTGT	0.353000													17	84					0	0	0.000958276	0	0
OR13F1	138805	broad.mit.edu	37	9	107266793	107266793	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:107266793A>C	ENST00000334726.2	+	1	339	c.250A>C	c.(250-252)Aac>Cac	p.N84H		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATGCTGGCAAACTTTGTTTC	0.517000													17	79					0	0	0.00074312	0	0
UBAP2	55833	broad.mit.edu	37	9	33960857	33960857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:33960857C>T	ENST00000379239.4	-	7	569	c.32G>A	c.(31-33)tGg>tAg	p.W11*	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Silent_p.V255V|UBAP2_ENST00000379238.1_Silent_p.V255V|UBAP2_ENST00000360802.1_Silent_p.V255V|UBAP2_ENST00000418786.2_Silent_p.V202V			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	0										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCCACTCTTCCACAGAATTCT	0.363000													13	51					0	0	0.000219431	0	0
NME8	51314	broad.mit.edu	37	7	37927957	37927957	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:37927957G>A	ENST00000199447.4	+	15	1698	c.1326G>A	c.(1324-1326)agG>agA	p.R442R	NME8_ENST00000440017.1_Silent_p.R442R|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	442	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCGCTGAAAGGGAAATACAGC	0.378000													14	54					0	0	0.000308642	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762107	101762107	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:101762107C>T	ENST00000334289.3	-	9	1665	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	357	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CCATTGAATTCCAGTTGCAAG	0.383000													33	148					0	0	0.000814825	0	0
COL4A6	1288	broad.mit.edu	37	X	107422663	107422663	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:107422663G>A	ENST00000334504.7	-	26	2370	c.2137C>T	c.(2137-2139)Cct>Tct	p.P713S	COL4A6_ENST00000538570.1_Missense_Mutation_p.P713S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P714S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P713S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P714S	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	714	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CGAGGTCCAGGAAATCCTAAA	0.473000									Alport syndrome with Diffuse Leiomyomatosis				5	16					0	0	0.00116845	0	0
PAX7	5081	broad.mit.edu	37	1	19062399	19062399	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:19062399C>T	ENST00000375375.3	+	8	2027	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	PAX7_ENST00000400661.3_Missense_Mutation_p.P475S|PAX7_ENST00000420770.2_Intron	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	477					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGGCGTCCCCCGTCCCCAT	0.622000			T	FOXO1A	alveolar rhabdomyosarcoma								7	23					0	0	8.12818e-05	0	0
GPHB5	122876	broad.mit.edu	37	14	63784486	63784486	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:63784486G>A	ENST00000539258.1	-	0	134							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GGTTCCCACTGGAGGCACCGA	0.612000													9	40					0	0	0.000308642	0	0
TNN	63923	broad.mit.edu	37	1	175052944	175052944	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:175052944G>A	ENST00000239462.4	+	5	1220	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	369	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCTTGACGTGGAGTGGGAAA	0.567000													9	38					0	0	0.00136819	0	0
C1orf27	54953	broad.mit.edu	37	1	186375273	186375273	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:186375273C>T	ENST00000367470.3	+	11	1226	c.990C>T	c.(988-990)tcC>tcT	p.S330S	C1orf27_ENST00000419367.3_Silent_p.S321S|C1orf27_ENST00000432021.3_Silent_p.S330S|C1orf27_ENST00000287859.6_Silent_p.S353S	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	353						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TTCCTGGATCCACTGTAATGT	0.353000													19	75					0	0	0.00152264	0	0
SPRR1B	6699	broad.mit.edu	37	1	153005041	153005041	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:153005041C>T	ENST00000307098.4	+	2	285	c.220C>T	c.(220-222)Cct>Tct	p.P74S	SPRR1B_ENST00000392661.3_Missense_Mutation_p.P58S	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	74	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGCCCTGCCCTTCAATAGT	0.627000													11	48					0	0	0.00185496	0	0
BMPER	168667	broad.mit.edu	37	7	34118707	34118707	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:34118707C>T	ENST00000297161.2	+	13	1691	c.1317C>T	c.(1315-1317)cgC>cgT	p.R439R	BMPER_ENST00000426693.1_Silent_p.R439R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	439	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCACCGTGCGCTGGAACGGCT	0.662000													7	41					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179442498C>T	ENST00000589042.1	-	323	68879	c.68655G>A	c.(68653-68655)tcG>tcA	p.S22885S	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAGACTTCGAAGGTAGAT	0.393000													14	98					0	0	0.000308642	0	0
RABGAP1	23637	broad.mit.edu	37	9	125835866	125835866	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:125835866G>A	ENST00000373647.4	+	16	2153	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_Silent_p.K12K	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	673	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TTCTGGTCAAGATCATGTTTG	0.443000													25	150					0	0	0.000586117	0	0
ASTN2	23245	broad.mit.edu	37	9	119568093	119568093	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:119568093C>T	ENST00000313400.4	-	13	2314	c.2214G>A	c.(2212-2214)gtG>gtA	p.V738V	ASTN2_ENST00000373996.3_Silent_p.V734V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.V687V			O75129	ASTN2_HUMAN	astrotactin 2	738	EGF-like 3.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTACTCCTCCACGCAACTGT	0.478000													20	92					0	0	0.00121646	0	0
ZNF425	155054	broad.mit.edu	37	7	148801467	148801467	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:148801467G>A	ENST00000378061.2	-	4	1628	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	499					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCGCCGCAGGGAAACTCCTT	0.632000													8	33					0	0	0.00136819	0	0
DOCK10	55619	broad.mit.edu	37	2	225666704	225666704	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:225666704A>G	ENST00000409592.3	-	40	4417	c.4304T>C	c.(4303-4305)tTa>tCa	p.L1435S	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1441S			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1441							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATTATAGGTAAAGTTTGTGA	0.368000													40	91					0	0	0.00128727	0	0
STK36	27148	broad.mit.edu	37	2	219558013	219558013	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:219558013G>A	ENST00000295709.3	+	17	2373	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	STK36_ENST00000440309.1_Silent_p.R698R|STK36_ENST00000392106.2_Silent_p.R698R|STK36_ENST00000392105.3_Silent_p.R698R	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	698					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCCAGCTCAGGCCATCCCTCA	0.483000													7	47					0	0	8.12818e-05	0	0
GPR50	9248	broad.mit.edu	37	X	150348275	150348275	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:150348275G>A	ENST00000218316.3	+	2	289	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	74					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGTGGCCGATATGCTGGT	0.498000													58	116					0	0	0.000781405	0	0
PROP1	5626	broad.mit.edu	37	5	177421179	177421179	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:177421179C>T	ENST00000308304.2	-	2	578	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	90					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTACTGGTTCCTCCCAAAGG	0.662000													30	55					0	0	0.000409698	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552525	1552525	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:1552525C>T	ENST00000381605.4	-	3	656	c.592G>A	c.(592-594)Gac>Aac	p.D198N	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	198	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGCGGGGTCCACGTTGGTC	0.557000													11	62					0	0	0.000308642	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197549	39197549	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:39197549G>C	ENST00000306271.4	-	1	164	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	34			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament		p.S34C(6)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGGAGCTGGTCTC	0.612000													5	73					0	0	0.00116845	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000541972.1_Silent_p.F1053F|CD163_ENST00000432237.2_Silent_p.F1065F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000													25	96					0	0	0.000720815	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378908	142378908	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:142378908G>A	ENST00000390398.3	+	0	213																											CAAGATCCAGGAATGGAACTA	0.438000													15	86					0	0	0.000308642	0	0
WDR31	114987	broad.mit.edu	37	9	116079162	116079162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:116079162C>T	ENST00000374193.4	-	11	1217	c.971G>A	c.(970-972)gGa>gAa	p.G324E	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Missense_Mutation_p.G199E|WDR31_ENST00000341761.4_Missense_Mutation_p.G323E	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	324										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGGTCCTGATCCATCCAGAGA	0.483000													11	34					0	0	0.00136819	0	0
KANK4	163782	broad.mit.edu	37	1	62713245	62713245	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:62713245C>T	ENST00000371153.4	-	9	3160	c.2782G>A	c.(2782-2784)Gat>Aat	p.D928N	KANK4_ENST00000354381.3_Missense_Mutation_p.D300N|KANK4_ENST00000371150.1_Missense_Mutation_p.D284N|KANK4_ENST00000317477.4_Missense_Mutation_p.D66N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	928										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GAGGATCCATCGTGGTCCTGC	0.627000													19	38					0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179473425	179473425	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179473425C>T	ENST00000589042.1	-	274	52537	c.52313G>A	c.(52312-52314)gGa>gAa	p.G17438E	TTN_ENST00000342992.6_Missense_Mutation_p.G14870E|TTN_ENST00000342175.6_Missense_Mutation_p.G8565E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8373E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15797E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8498E|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15797	Fibronectin type-III 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTCTTTTCCTTCAATCAG	0.393000													9	38					0	0	0.000673444	0	0
GCOM1	145781	broad.mit.edu	37	15	57924750	57924750	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:57924750C>T	ENST00000574161.1	+	7	916	c.797C>T	c.(796-798)gCt>gTt	p.A266V	GCOM1_ENST00000587652.1_Missense_Mutation_p.A266V|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000572390.1_Missense_Mutation_p.A266V|GCOM1_ENST00000380560.2_Missense_Mutation_p.A197V|GCOM1_ENST00000396180.1_Missense_Mutation_p.A235V|MYZAP_ENST00000267853.5_Missense_Mutation_p.A266V|GCOM1_ENST00000380569.2_Missense_Mutation_p.A266V|GCOM1_ENST00000380568.3_Missense_Mutation_p.A266V|MYZAP_ENST00000380565.4_Missense_Mutation_p.A266V|GCOM1_ENST00000380561.2_Missense_Mutation_p.A235V	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		266					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAGAAGGAGGCTCTTTTGGTG	0.463000													16	83					0	0	0.00074312	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561324	145561324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:145561324C>T	ENST00000355594.4	+	10	1099	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	338										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAACCAGATTCGAGAGCAGGC	0.577000													7	17					0	0	0.000157383	0	0
ANKRD10	55608	broad.mit.edu	37	13	111546482	111546482	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:111546482G>A	ENST00000375758.5	-	4	657	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	ANKRD10_ENST00000310847.4_Missense_Mutation_p.P175S|ANKRD10_ENST00000267339.2_Intron|ANKRD10_ENST00000489973.2_5'UTR			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	0										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			AAAACTGAGGGATCAAAAGTA	0.383000													18	109					0	0	0.00188189	0	0
CRHR1	1394	broad.mit.edu	37	17	43911143	43911143	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:43911143C>T	ENST00000314537.5	+	11	1218	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CRHR1_ENST00000398285.3_Silent_p.F360F|CRHR1_ENST00000577353.1_Silent_p.F331F|CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000352855.5_Silent_p.F291F|CRHR1_ENST00000293493.7_Silent_p.F156F	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	360					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCTGTTCTTCGTCAATCCCG	0.607000													6	58					0	0	8.12818e-05	0	0
COPS2	9318	broad.mit.edu	37	15	49423006	49423006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:49423006G>A	ENST00000388901.5	-	10	1028	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	COPS2_ENST00000299259.6_Nonsense_Mutation_p.Q326*|COPS2_ENST00000542928.1_Nonsense_Mutation_p.Q255*	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	319	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCATTATTCTGATAGGCACTA	0.303000													12	57					0	0	0.00136819	0	0
A2M	2	broad.mit.edu	37	12	9225293	9225293	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:9225293C>T	ENST00000318602.7	-	30	4238	c.3931G>A	c.(3931-3933)Gaa>Aaa	p.E1311K		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1311					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGCTGTATTCCCCAGGCAGC	0.517000													36	126					0	0	0.00195071	0	0
PAIP2	51247	broad.mit.edu	37	5	138700376	138700376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:138700376C>T	ENST00000394795.2	+	3	1253	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	PAIP2_ENST00000503553.2_3'UTR|PAIP2_ENST00000265192.4_Nonsense_Mutation_p.Q88*|PAIP2_ENST00000510080.1_Nonsense_Mutation_p.Q88*|PAIP2_ENST00000511706.1_Intron			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	88					negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGACCAAATCCAAGACCAGTT	0.373000													9	71					0	0	0.000274275	0	0
SORL1	6653	broad.mit.edu	37	11	121491909	121491909	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:121491909G>A	ENST00000260197.7	+	44	6155	c.6026G>A	c.(6025-6027)gGg>gAg	p.G2009E	SORL1_ENST00000525532.1_Missense_Mutation_p.G953E|SORL1_ENST00000534286.1_Missense_Mutation_p.G919E|SORL1_ENST00000532694.1_Missense_Mutation_p.G855E|SORL1_ENST00000527934.1_Missense_Mutation_p.G624E	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2009	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCCAACTGGGGAACATGAGC	0.483000													16	44					0	0	0.000566183	0	0
VWA2	340706	broad.mit.edu	37	10	116044669	116044669	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:116044669G>A	ENST00000603594.1	+	10	1258	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	VWA2_ENST00000392982.3_Missense_Mutation_p.E313K	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	313	EGF-like 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGTTCCAGAAGGACTGGA	0.607000													6	10					0	0	0.000274275	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222625	130222625	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:130222625C>T	ENST00000276211.5	+	12	1855	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P368S|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P492S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	504					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCAGCTGTGCCTTCCGGCAC	0.537000													4	9					0	0	0.00116845	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601005	41601005	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:41601005G>A	ENST00000330436.3	+	8	1303	c.1303_splice	c.e8+1	p.G435_splice		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	435					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTTTTCCATCGGTAAGAGACC	0.567000													19	85					0	0	0.000295444	0	0
C11orf82	220042	broad.mit.edu	37	11	82641290	82641290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:82641290G>A	ENST00000533655.1	+	5	579	c.367G>A	c.(367-369)Gga>Aga	p.G123R	C11orf82_ENST00000430323.2_Missense_Mutation_p.G123R|C11orf82_ENST00000525361.1_Missense_Mutation_p.G123R|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Intron|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525388.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	123					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTGCTTTGTTGGACAAAGCTT	0.308000													7	52					0	0	0.000442599	0	0
WDR93	56964	broad.mit.edu	37	15	90281443	90281443	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:90281443G>A	ENST00000268130.7	+	16	2038	c.1937G>A	c.(1936-1938)aGa>aAa	p.R646K	WDR93_ENST00000560294.1_Missense_Mutation_p.R618K|WDR93_ENST00000444934.2_Missense_Mutation_p.R363K	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	646					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGAGAAGAGATGTGAGCGT	0.493000													29	128					0	0	0.000339439	0	0
YWHAB	7529	broad.mit.edu	37	20	43532690	43532690	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:43532690C>T	ENST00000372839.3	+	4	631	c.357C>T	c.(355-357)ttC>ttT	p.F119F	YWHAB_ENST00000353703.4_Silent_p.F119F|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	119					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GTAAGGTGTTCTACTTGAAAA	0.318000													14	69					0	0	0.000219431	0	0
ZNF827	152485	broad.mit.edu	37	4	146696987	146696987	+	Missense_Mutation	SNP	C	C	T	rs147131944	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:146696987C>T	ENST00000508784.1	-	10	2874	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	ZNF827_ENST00000513320.1_Missense_Mutation_p.V533I|ZNF827_ENST00000379448.4_Missense_Mutation_p.V883I			Q17R98	ZN827_HUMAN	zinc finger protein 827	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCAGAGGTGACGGCGCTGACA	0.507000													10	62					0	0	0.000442599	0	0
CD300A	11314	broad.mit.edu	37	17	72477440	72477440	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:72477440C>T	ENST00000360141.3	+	5	929	c.641C>T	c.(640-642)tCa>tTa	p.S214L	CD300A_ENST00000310828.5_Missense_Mutation_p.S101L|CD300A_ENST00000361933.3_Missense_Mutation_p.S18L|CD300A_ENST00000577511.1_Missense_Mutation_p.S84L|CD300A_ENST00000392625.3_Missense_Mutation_p.S101L	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	214					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGTGACCATTCAGAGCTGTCC	0.567000													12	72					0	0	0.000219431	0	0
DSG3	1830	broad.mit.edu	37	18	29040811	29040811	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:29040811C>T	ENST00000257189.4	+	7	783	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	234	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGCAGCTATCGTCTGGTTGT	0.338000													6	45					0	0	0.000442599	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151167	11151167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:11151167G>A	ENST00000544779.1	-	5	552	c.547C>T	c.(547-549)Cct>Tct	p.P183S	EXOSC10_ENST00000376936.4_Missense_Mutation_p.P183S|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P183S			Q01780	EXOSX_HUMAN	exosome component 10	183					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTGAGCTGAGGTCGGATGATA	0.378000													44	78					0	0	0.00170553	0	0
RP1	6101	broad.mit.edu	37	8	55541857	55541857	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:55541857C>T	ENST00000220676.1	+	4	5563	c.5415C>T	c.(5413-5415)ctC>ctT	p.L1805L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1805					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTCAGAACTCGAGGAACTGA	0.443000													8	9					0	0	0.000442599	0	0
ZNF831	128611	broad.mit.edu	37	20	57766525	57766525	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:57766525C>T	ENST00000371030.2	+	1	451	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	151						intracellular	nucleic acid binding|zinc ion binding	p.R151C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCACTGTGGTCGCGACTGCCT	0.662000													11	76					0	0	0.00185496	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28217580	28217580	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:28217580G>A	ENST00000377294.2	-	2	699	c.456C>T	c.(454-456)ctC>ctT	p.L152L	ZKSCAN4_ENST00000423974.2_5'UTR	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	152					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTTGCAACAGAGCAGTTCTT	0.453000													13	153					0	0	0.00185496	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401656	1401656	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:1401656G>A	ENST00000381524.3	+	3	246	c.60G>A	c.(58-60)ctG>ctA	p.L20L	CSF2RA_ENST00000381509.3_Silent_p.L20L|CSF2RA_ENST00000361536.3_Silent_p.L20L|CSF2RA_ENST00000381529.3_Silent_p.L20L|CSF2RA_ENST00000417535.2_Silent_p.L20L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Silent_p.L20L|CSF2RA_ENST00000381500.1_Silent_p.L20L|CSF2RA_ENST00000432318.2_Silent_p.L20L|CSF2RA_ENST00000355805.2_Silent_p.L20L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	20						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CATTCCTCCTGATCCCAGAGA	0.537000													37	160					0	0	0.000437636	0	0
SI	6476	broad.mit.edu	37	3	164777010	164777010	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:164777010G>A	ENST00000264382.3	-	11	1286	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	408	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAATTGAGGGAGTCCGTTAA	0.338000										HNSCC(35;0.089)			10	49					0	0	0.000442599	0	0
COX6B1	1340	broad.mit.edu	37	19	36145521	36145521	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:36145521C>T	ENST00000246554.3	+	3	347	c.155C>T	c.(154-156)tCt>tTt	p.S52F	COX6B1_ENST00000592141.1_Missense_Mutation_p.S52F|COX6B1_ENST00000392201.1_Missense_Mutation_p.S52F	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	52					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCGATATCTCTGTGTGCGAA	0.552000													16	70					0	0	0.00074312	0	0
HAL	3034	broad.mit.edu	37	12	96384290	96384290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:96384290G>A	ENST00000261208.3	-	10	1104	c.736C>T	c.(736-738)Cca>Tca	p.P246S	HAL_ENST00000541929.1_Missense_Mutation_p.P38S|HAL_ENST00000538703.1_Missense_Mutation_p.P246S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	246					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CCTTTCTCTGGGACATAGGGC	0.547000													9	53					0	0	0.000442599	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175187	102175187	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:102175187G>A	ENST00000306176.1	+	4	626	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	ZPLD1_ENST00000466937.1_Missense_Mutation_p.E160K|ZPLD1_ENST00000491959.1_Missense_Mutation_p.E160K	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	160	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTATCCATTGGAATACCTGGT	0.368000													22	143					0	0	0.00047179	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791300	50791300	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:50791300C>T	ENST00000263046.4	+	3	455	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	TFAP2B_ENST00000393655.3_Missense_Mutation_p.H88Y|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	88	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCCCTACTCCCACGTCAACGA	0.677000													5	34					0	0	0.000602214	0	0
CCR2	729230	broad.mit.edu	37	3	46399345	46399345	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:46399345G>A	ENST00000292301.4	+	2	812	c.327G>A	c.(325-327)ggG>ggA	p.G109G	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Silent_p.G109G|CCR2_ENST00000445132.2_Silent_p.G109G	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	109					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGGTCTTTGGGAATGCAATGT	0.443000													58	248					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9082989	9082989	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9082989C>A	ENST00000397910.4	-	1	9029	c.8826G>T	c.(8824-8826)atG>atT	p.M2942I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2943	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGGAAGTCATCATCCTTG	0.498000													19	80					7.16444e-05	0.000449984	0.000586117	1	0
SLC2A4	6517	broad.mit.edu	37	17	7186857	7186857	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:7186857C>T	ENST00000317370.8	+	3	484	c.216C>T	c.(214-216)atC>atT	p.I72I	SLC2A4_ENST00000571308.1_Silent_p.I72I|RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Silent_p.I62I	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	72					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCAGCTCCATCCCTCCAGGCA	0.602000													12	56					0	0	0.00136819	0	0
DNAH7	56171	broad.mit.edu	37	2	196709789	196709789	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:196709789C>T	ENST00000312428.6	-	47	8982	c.8882G>A	c.(8881-8883)cGa>cAa	p.R2961Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2961	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTCCAAGTTCGAATTGTCAC	0.363000													8	29					0	0	0.000442599	0	0
C1orf173	127254	broad.mit.edu	37	1	75078372	75078372	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:75078372G>A	ENST00000326665.5	-	9	1340	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	C1orf173_ENST00000420661.2_Silent_p.S177S|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	374										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCAAGCCTGGAACCTTTCC	0.463000													14	38					0	0	0.000219431	0	0
DNAH8	1769	broad.mit.edu	37	6	38879331	38879331	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:38879331C>T	ENST00000359357.3	+	64	9431	c.9177C>T	c.(9175-9177)ttC>ttT	p.F3059F	DNAH8_ENST00000441566.1_Silent_p.F3023F|DNAH8_ENST00000449981.2_Silent_p.F3276F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGTGAAGTTCATTAATGAAC	0.358000													7	62					0	0	0.000274275	0	0
SLC29A2	3177	broad.mit.edu	37	11	66138782	66138782	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:66138782C>T	ENST00000357440.2	-	2	272	c.44G>A	c.(43-45)gGg>gAg	p.G15E	SLC29A2_ENST00000546034.1_Missense_Mutation_p.G15E|SLC29A2_ENST00000544554.1_Missense_Mutation_p.G15E|SLC29A2_ENST00000311161.7_Missense_Mutation_p.G15E	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	15					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GAAGCTGATCCCGACCAGGTG	0.697000													14	29					0	0	0.00074312	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078801	107078801	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:107078801C>T	ENST00000390628.2	-	0	68																											CCTCCAAATCCAGTCCATAGT	0.527000													6	48					0	0	0.00116845	0	0
OR1F1	4992	broad.mit.edu	37	16	3255040	3255040	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:3255040C>T	ENST00000304646.2	+	1	794	c.794C>T	c.(793-795)tCc>tTc	p.S265F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCTCTGTCCTCCCACTCAGCT	0.478000													57	101					0	0	0.000781405	0	0
SPATA16	83893	broad.mit.edu	37	3	172694801	172694801	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:172694801C>T	ENST00000351008.3	-	5	1073	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	297					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCTTCCCTTCCTCCACCAAG	0.393000													8	77					0	0	0.000442599	0	0
MIA3	375056	broad.mit.edu	37	1	222837433	222837433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:222837433G>T	ENST00000344922.5	+	27	5381	c.5356G>T	c.(5356-5358)Gga>Tga	p.G1786*	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Nonsense_Mutation_p.G1786*|MIA3_ENST00000340535.7_Nonsense_Mutation_p.G664*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1786	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CATTCGATATGGACCACCACC	0.537000													10	441					0.00136819	0.00849598	0.00136819	1	0
TAS2R4	50832	broad.mit.edu	37	7	141479032	141479032	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:141479032C>T	ENST00000247881.2	+	1	791	c.744C>T	c.(742-744)gtC>gtT	p.V248V	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	248					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTACCCTGGTCCAGTATCTCC	0.448000													17	91					0	0	0.00152264	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208524	104208524	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:104208524C>T	ENST00000202556.9	-	11	1707	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	475	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGGAGCTTGTCGACCCAGGAC	0.622000													7	37					0	0	8.12818e-05	0	0
IGLV9-49	28773	broad.mit.edu	37	22	22697939	22697939	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:22697939G>A	ENST00000427632.2	+	0	264																											GGGATTGTGGGATCCAAGGGG	0.552000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	0.00024832	0	0
THAP4	51078	broad.mit.edu	37	2	242545819	242545819	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:242545819G>A	ENST00000407315.1	-	3	1741	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	THAP4_ENST00000402136.1_Missense_Mutation_p.P25L|THAP4_ENST00000402545.1_Missense_Mutation_p.P25L	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	437							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCCGGCTCCAGGTGGGTCCGA	0.597000													5	7					0	0	0.00116845	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526906	86526906	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:86526906G>A	ENST00000450689.2	-	19	2786	c.2601C>T	c.(2599-2601)ttC>ttT	p.F867F	KIAA1324L_ENST00000297222.6_Silent_p.F627F|KIAA1324L_ENST00000416314.1_Silent_p.F700F|KIAA1324L_ENST00000444627.1_Silent_p.F796F	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	867						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTCCCACAGGAAATAGAACG	0.453000													5	29					0	0	0.000602214	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900001	130900001	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:130900001G>A	ENST00000392984.3	-	2	1298	c.555C>T	c.(553-555)tcC>tcT	p.S185S	CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	0										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					AGGTCCCGAGGGAGAGCATGG	0.637000													5	45					0	0	0.00116845	0	0
MALAT1	378938	broad.mit.edu	37	11	65267752	65267752	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:65267752C>T	ENST00000534336.1	+	0	2520					NR_002819.2																						GAAGGACTTTCGTAACGGAAG	0.308000													13	46					0	0	0.000219431	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98995023	98995023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:98995023G>A	ENST00000453547.2	-	9	1234	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.S403F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.S403F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.S412F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.S412F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.S383F																							TTGTACCTGGGAAGTAGAAGG	0.418000													29	148					0	0	0.000339439	0	0
EPHA10	284656	broad.mit.edu	37	1	38227462	38227462	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:38227462G>A	ENST00000373048.4	-	3	464	c.465C>T	c.(463-465)atC>atT	p.I155I	EPHA10_ENST00000319637.6_Silent_p.I155I|EPHA10_ENST00000427468.2_Silent_p.I155I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	155						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGTCCGCCGCGATCGTGTCGA	0.662000													16	21					0	0	0.000308642	0	0
NPVF	64111	broad.mit.edu	37	7	25268055	25268055	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:25268055C>T	ENST00000222674.2	-	1	50	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	2					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAAATAATTTCCATTTTGTCT	0.294000													9	43					0	0	0.000274275	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597125	136597125	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:136597125G>A	ENST00000531224.1	-	5	1790	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.P513L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P511L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P511L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P511L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P340L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	513					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTGTAGAGGGGGACTGTAATC	0.413000													17	206					0	0	0.00121646	0	0
MROH2B	133558	broad.mit.edu	37	5	41064581	41064581	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:41064581G>A	ENST00000399564.4	-	5	903	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CACCAATACAGAAAGTCCCCT	0.448000													7	19					0	0	8.12818e-05	0	0
PEAR1	375033	broad.mit.edu	37	1	156878777	156878777	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:156878777G>A	ENST00000338302.3	+	12	1585	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	PEAR1_ENST00000292357.7_Missense_Mutation_p.E454K			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	454						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCTCATGTGAAAATGCCAT	0.582000													8	47					0	0	0.000157383	0	0
ACAN	176	broad.mit.edu	37	15	89386843	89386843	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:89386843G>A	ENST00000439576.2	+	6	1389	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	ACAN_ENST00000558207.1_Missense_Mutation_p.D339N|ACAN_ENST00000561243.1_Missense_Mutation_p.D339N|ACAN_ENST00000559004.1_Missense_Mutation_p.D339N|ACAN_ENST00000352105.7_Missense_Mutation_p.D339N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	339					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGCTACCCCGACCCCTCATC	0.642000													9	43					0	0	0.000978159	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307484	39307484	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:39307484T>C	ENST00000541347.1	-	2	756	c.517A>G	c.(517-519)Aat>Gat	p.N173D	CX3CR1_ENST00000358309.3_Missense_Mutation_p.N205D|CX3CR1_ENST00000399220.2_Missense_Mutation_p.N173D|CX3CR1_ENST00000542107.1_Missense_Mutation_p.N173D	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	173					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGGCATTCATTTTCTTTCTGC	0.547000													18	73					0	0	0.000958276	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718198	142718198	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:142718198C>T	ENST00000381779.4	-	2	952	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E243K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E243K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	243	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGAGTTTCACAGATAGCT	0.438000													10	20					0	0	0.000673444	0	0
OR10G2	26534	broad.mit.edu	37	14	22102951	22102951	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:22102951G>A	ENST00000542433.1	-	1	145	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCAGAAGAATGAAATCTGTCA	0.458000													18	110					0	0	0.00152264	0	0
HK3	3101	broad.mit.edu	37	5	176316452	176316452	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:176316452C>T	ENST00000292432.5	-	8	935	c.844G>A	c.(844-846)Gcg>Acg	p.A282T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	282	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCCCAGCGCCCCATCATCG	0.642000													14	19					0	0	0.00185496	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	T	G	rs121913255		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:115256528T>G	ENST00000369535.4	-	3	436	c.183A>C	c.(181-183)caA>caC	p.Q61H		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			38	90					0	0	0.00148497	0	0
CRHR1	1394	broad.mit.edu	37	17	43910564	43910564	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:43910564C>T	ENST00000314537.5	+	9	1056	c.831C>T	c.(829-831)atC>atT	p.I277I	CRHR1_ENST00000398285.3_Silent_p.I306I|CRHR1_ENST00000577353.1_Silent_p.I277I|CRHR1_ENST00000339069.5_Silent_p.I176I|CRHR1_ENST00000352855.5_Silent_p.I237I|CRHR1_ENST00000293493.7_Silent_p.I102I	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	306					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCCCATGATCCTGGTCCTGC	0.592000													10	51					0	0	0.000978159	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087105	39087105	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:39087105C>T	ENST00000400482.3	-	3	944	c.355G>A	c.(355-357)Gga>Aga	p.G119R	KCNJ6_ENST00000288309.6_Missense_Mutation_p.G119R	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	119					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCCATGTCTCCCCGTATGTAT	0.458000													19	65					0	0	0.00188189	0	0
IDUA	3425	broad.mit.edu	37	4	995680	995680	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:995680C>T	ENST00000453894.1	+	5	750	c.662C>T	c.(661-663)gCc>gTc	p.A221V	IDUA_ENST00000247933.4_Intron|IDUA_ENST00000514224.1_Intron			P35475	IDUA_HUMAN	iduronidase, alpha-L-	20					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GTGCGCCCTGCCCCTCCGTCC	0.736000													4	6					0	0	0.00024832	0	0
EPHB1	2047	broad.mit.edu	37	3	134670831	134670831	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:134670831G>A	ENST00000398015.3	+	3	1112	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	248	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAATGGATGGTGCCTATTGG	0.572000													28	140					0	0	0.00127121	0	0
CD300A	11314	broad.mit.edu	37	17	72473669	72473669	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:72473669G>A	ENST00000360141.3	+	4	916	c.628_splice	c.e4+1	p.A210_splice	CD300A_ENST00000310828.5_Splice_Site_p.A97_splice|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Splice_Site_p.A80_splice|CD300A_ENST00000392625.3_Splice_Site_p.A97_splice	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	210					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						ATGGATCAAAGGTGAGTTGGC	0.587000													11	21					0	0	0.000978159	0	0
TDRD5	163589	broad.mit.edu	37	1	179562978	179562978	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:179562978G>A	ENST00000444136.1	+	3	866	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E206K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E206K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	206	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTAACAGAGGAAAAGCCGAG	0.453000													9	43					0	0	0.000442599	0	0
CARM1	10498	broad.mit.edu	37	19	11022887	11022887	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:11022887G>T	ENST00000327064.4	+	5	776	c.586G>T	c.(586-588)Ggg>Tgg	p.G196W	CARM1_ENST00000344150.4_Missense_Mutation_p.G196W	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	196					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CTGTGGCTCTGGGATCCTGTC	0.597000													9	204					0.00136819	0.00849598	0.00136819	1	0
COL14A1	7373	broad.mit.edu	37	8	121309794	121309794	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:121309794C>T	ENST00000297848.3	+	35	4551	c.4281C>T	c.(4279-4281)gcC>gcT	p.A1427A	COL14A1_ENST00000309791.4_Silent_p.A1427A|COL14A1_ENST00000247781.3_Silent_p.A1332A	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1427	Nonhelical region (NC4).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATCATGGGCCAATACAGACA	0.284000													12	77					0	0	0.000422831	0	0
TRRAP	8295	broad.mit.edu	37	7	98524910	98524910	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:98524910G>A	ENST00000359863.4	+	23	3305	c.3096G>A	c.(3094-3096)aaG>aaA	p.K1032K	TRRAP_ENST00000446306.3_Silent_p.K1031K|TRRAP_ENST00000355540.3_Silent_p.K1032K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1032					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTCATTAAGGACCTGCGGC	0.602000													8	49					0	0	0.000157383	0	0
RGL1	23179	broad.mit.edu	37	1	183711306	183711306	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:183711306C>T	ENST00000304685.3	+	2	475	c.14C>T	c.(13-15)cCt>cTt	p.P5L	RGL1_ENST00000536277.1_Missense_Mutation_p.P5L|RGL1_ENST00000367531.1_Missense_Mutation_p.P5L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAGGTGAAACCTGTGGGAGAA	0.443000													6	43					0	0	0.000157383	0	0
RIMS4	140730	broad.mit.edu	37	20	43385568	43385568	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:43385568G>A	ENST00000372851.3	-	5	628	c.562C>T	c.(562-564)Cct>Tct	p.P188S	RIMS4_ENST00000541604.2_Missense_Mutation_p.P189S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	188	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGACTCTCAGGAAACAGCAGC	0.552000													25	152					0	0	0.000720815	0	0
NPAP1	23742	broad.mit.edu	37	15	24924064	24924064	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:24924064G>A	ENST00000329468.2	+	1	3524	c.3050G>A	c.(3049-3051)gGt>gAt	p.G1017D		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTATGGATGGTGGGAGCATT	0.537000													4	29					0	0	0.00024832	0	0
GRN	2896	broad.mit.edu	37	17	42429158	42429158	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:42429158C>T	ENST00000053867.3	+	10	1236	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	GRN_ENST00000589265.1_Missense_Mutation_p.P235S|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	392					signal transduction	extracellular space	cytokine activity|growth factor activity	p.P392T(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGTCCAATCCCAGAGGTATA	0.582000													7	23					0	0	0.000274275	0	0
FCER1A	2205	broad.mit.edu	37	1	159277610	159277610	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159277610G>A	ENST00000368115.1	+	6	761	c.662G>A	c.(661-663)gGa>gAa	p.G221E	FCER1A_ENST00000368114.1_Missense_Mutation_p.G188E	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	221						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTGGACACAGGATTATTTATC	0.443000													11	75					0	0	0.000308642	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457571	110457571	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:110457571A>T	ENST00000378402.5	+	38	5577	c.5473A>T	c.(5473-5475)Aac>Tac	p.N1825Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1825	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCTCTGGGAAACCTGACTGT	0.483000										HNSCC(38;0.096)			7	68					0	0	0.000157383	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68178328	68178328	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:68178328T>C	ENST00000262215.3	-	14	2425	c.2036A>G	c.(2035-2037)tAc>tGc	p.Y679C	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Y133C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	679					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGTGTACTGTAGCTGCCTAT	0.383000													25	60					0	0	0.00106085	0	0
DMXL2	23312	broad.mit.edu	37	15	51749620	51749620	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:51749620G>A	ENST00000251076.5	-	36	8463	c.8176C>T	c.(8176-8178)Caa>Taa	p.Q2726*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.Q2090*|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.Q2727*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2726						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCACTGGGTTGATAAAGAGTT	0.438000													14	51					0	0	0.000422831	0	0
NACC2	138151	broad.mit.edu	37	9	138905090	138905090	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:138905090G>A	ENST00000371753.1	-	4	1268	c.1210C>T	c.(1210-1212)Ccc>Tcc	p.P404S	NACC2_ENST00000277554.2_Missense_Mutation_p.P404S			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	404	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						TTCCGGCTGGGGTCGCTGGTG	0.672000													11	66					0	0	0.00136819	0	0
NRG2	9542	broad.mit.edu	37	5	139232076	139232076	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:139232076C>T	ENST00000541337.1	-	6	1516	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	NRG2_ENST00000289409.4_Silent_p.G489G|NRG2_ENST00000358522.3_Silent_p.G497G|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Silent_p.G495G|NRG2_ENST00000289422.7_Silent_p.G503G|NRG2_ENST00000340391.3_Silent_p.G292G|NRG2_ENST00000545385.1_Silent_p.G497G	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	495					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGTGGCTCCCAGAGAAGG	0.537000													29	47					0	0	0.00127121	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928261	92928261	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:92928261G>A	ENST00000373079.3	-	1	306	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	15					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCAACCCCATGGGCGACAGGT	0.532000													12	21					0	0	0.00185496	0	0
SPATA25	128497	broad.mit.edu	37	20	44515165	44515165	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:44515165G>A	ENST00000372519.3	-	2	719	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	225						integral to membrane											TCTACAAGCAGGAGCCAGGAG	0.592000													21	139					0	0	0.00047179	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367982	184367982	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:184367982C>T	ENST00000504169.1	+	3	1352	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	382	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACCAGTGGATCTCTGGTTTCC	0.473000													7	52					0	0	8.12818e-05	0	0
CSH2	1443	broad.mit.edu	37	17	61950619	61950619	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:61950619G>A	ENST00000336844.5	-	2	242	c.91C>T	c.(91-93)Ccg>Tcg	p.P31S	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.P31S|CSH2_ENST00000345366.7_Missense_Mutation_p.P31S	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	31					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CTGGATAACGGAACGGTTTGG	0.607000													27	127					0	0	0.000720815	0	0
USP40	55230	broad.mit.edu	37	2	234386139	234386139	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:234386139G>A	ENST00000251722.6	-	32	3724	c.3607C>T	c.(3607-3609)Ctc>Ttc	p.L1203F	USP40_ENST00000427112.2_Missense_Mutation_p.L1203F|USP40_ENST00000450966.1_Missense_Mutation_p.L1215F			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1203					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGCTCATGGAGGGCTTCTTGG	0.562000													7	25					0	0	0.000157383	0	0
PTPN22	26191	broad.mit.edu	37	1	114372239	114372239	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:114372239G>A	ENST00000359785.5	-	18	2360	c.2225C>T	c.(2224-2226)cCt>cTt	p.P742L	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P742L|PTPN22_ENST00000538253.1_Missense_Mutation_p.P498L|PTPN22_ENST00000528414.1_Missense_Mutation_p.P687L|PTPN22_ENST00000525799.1_Missense_Mutation_p.P615L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	742				P -> S (in Ref. 2; AAD27764).	negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTTTTCCAGGAGTCTTCAG	0.388000													40	70					0	0	0.000589545	0	0
FAT4	79633	broad.mit.edu	37	4	126411606	126411606	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:126411606G>A	ENST00000394329.3	+	17	13642	c.13629G>A	c.(13627-13629)ccG>ccA	p.P4543P	FAT4_ENST00000335110.5_Silent_p.P2784P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4543					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P4543P(1)|p.P4486P(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAGAAACCGAAGGAGAAGA	0.517000													15	41					0	0	0.000308642	0	0
FAT4	79633	broad.mit.edu	37	4	126370109	126370109	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:126370109C>T	ENST00000394329.3	+	9	7951	c.7938C>T	c.(7936-7938)ttC>ttT	p.F2646F	FAT4_ENST00000335110.5_Silent_p.F944F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2646	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						acggtggtttccctcctttct	0.368000													9	34					0	0	0.000442599	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546093	85546093	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:85546093C>T	ENST00000393217.2	+	20	4426	c.4365C>T	c.(4363-4365)tcC>tcT	p.S1455S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1455										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CATTAGATTCCACCCGCTTCC	0.373000													26	106					0	0	0.000409698	0	0
POLR3D	661	broad.mit.edu	37	8	22105716	22105716	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:22105716C>T	ENST00000397802.4	+	4	626	c.411C>T	c.(409-411)atC>atT	p.I137I	POLR3D_ENST00000306433.4_Silent_p.I137I			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	137					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTTCTCATATCATCAACATCA	0.483000													21	40					0	0	0.00121646	0	0
ASTN1	460	broad.mit.edu	37	1	176833657	176833657	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:176833657C>T	ENST00000367654.2	-	23	3685	c.3671_splice	c.e23-1	p.R1224_splice	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Splice_Site_p.R1216_splice			O14525	ASTN1_HUMAN	astrotactin 1	1224					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACCAGCTTTCCTATGGATCA	0.488000													10	40					0	0	0.000673444	0	0
S100A8	6279	broad.mit.edu	37	1	153362720	153362720	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:153362720C>T	ENST00000368733.3	-	3	311		c.e3-1		S100A8_ENST00000368732.1_Splice_Site|S100A8_ENST00000477801.1_Splice_Site	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8						chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCTTTTTCTGTCAAGATT	0.507000													22	112					0	0	0.000878237	0	0
IL36B	27177	broad.mit.edu	37	2	113788703	113788703	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:113788703G>A	ENST00000259213.4	-	3	150	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	IL36B_ENST00000327407.2_Missense_Mutation_p.R15C	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	15					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CGAGAATCACGAATAGCATAG	0.473000													25	54					0	0	0.001512	0	0
ASH1L	55870	broad.mit.edu	37	1	155450538	155450538	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:155450538G>A	ENST00000368346.3	-	3	2762	c.2123C>T	c.(2122-2124)cCa>cTa	p.P708L	ASH1L_ENST00000392403.3_Missense_Mutation_p.P708L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	708					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTTTTAATGGTTTGGACTG	0.398000													12	46					0	0	0.00136819	0	0
F7	2155	broad.mit.edu	37	13	113772926	113772926	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:113772926C>T	ENST00000375581.3	+	9	1040	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	F7_ENST00000346342.3_Silent_p.F313F|F7_ENST00000541084.1_Silent_p.F266F	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	335	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGCTGGCCTTCGTGCGCTTCT	0.677000													11	24					0	0	0.00136819	0	0
DAK	26007	broad.mit.edu	37	11	61111709	61111709	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:61111709G>A	ENST00000394900.3	+	13	1433	c.1204G>A	c.(1204-1206)Ggc>Agc	p.G402S		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	402	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTGGTGACGGCGACTGTGG	0.627000													15	36					0	0	0.000422831	0	0
GRN	2896	broad.mit.edu	37	17	42429159	42429159	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:42429159C>T	ENST00000053867.3	+	10	1237	c.1175C>T	c.(1174-1176)cCa>cTa	p.P392L	GRN_ENST00000589265.1_Missense_Mutation_p.P235L|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	392					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTCCAATCCCAGAGGTATAT	0.582000													7	22					0	0	0.000274275	0	0
RGS9	8787	broad.mit.edu	37	17	63157006	63157006	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:63157006G>A	ENST00000449996.3	+	6	474	c.402G>A	c.(400-402)ggG>ggA	p.G134G	RGS9_ENST00000262406.9_Silent_p.G134G|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.G134G	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	134					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AAAAGAAAGGGATTTTGGAAG	0.388000													12	95					0	0	0.000422831	0	0
PIWIL1	9271	broad.mit.edu	37	12	130832683	130832683	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:130832683G>A	ENST00000245255.3	+	7	961	c.689G>A	c.(688-690)cGa>cAa	p.R230Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	230					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CAAATTGGACGAAATTATTAT	0.333000													7	47					0	0	0.000157383	0	0
PROL1	58503	broad.mit.edu	37	4	71275139	71275139	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:71275139G>A	ENST00000399575.2	+	3	268	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	32	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATATCTACCTGGCCAGCTGCC	0.433000													6	56					0	0	8.12818e-05	0	0
PRMT3	10196	broad.mit.edu	37	11	20483679	20483679	+	Missense_Mutation	SNP	C	C	T	rs142036289		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:20483679C>T	ENST00000331079.6	+	12	1443	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	PRMT3_ENST00000437750.2_Missense_Mutation_p.P347L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	409							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTTTTAGATCCGAAGACTCTT	0.348000													23	139					0	0	0.00127121	0	0
OR5H6	79295	broad.mit.edu	37	3	97983449	97983449	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:97983449G>A	ENST00000383696.2	+	1	362	c.321G>A	c.(319-321)atG>atA	p.M107I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGTAAGATGATATCTCTCT	0.398000													17	103					0	0	0.000422831	0	0
NACA	4666	broad.mit.edu	37	12	57110778	57110778	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:57110778G>A	ENST00000454682.1	-	3	4817	c.4536C>T	c.(4534-4536)tcC>tcT	p.S1512S	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCTTTGGGGGAAGAAGGAA	0.587000			T	BCL6	NHL								12	41					0	0	0.00185496	0	0
GRIA1	2890	broad.mit.edu	37	5	153085609	153085609	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:153085609G>A	ENST00000285900.5	+	11	2148	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E	GRIA1_ENST00000340592.5_Missense_Mutation_p.G602E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G612E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G612E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G522E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G533E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	602					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGCAGCAAGGATGTGACATT	0.433000													22	51					0	0	0.000375601	0	0
SPAG6	9576	broad.mit.edu	37	10	22675742	22675742	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:22675742G>A	ENST00000376603.2	+	5	902	c.760G>A	c.(760-762)Gag>Aag	p.E254K	SPAG6_ENST00000313311.6_Missense_Mutation_p.E178K|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.E178K|SPAG6_ENST00000538630.1_Missense_Mutation_p.E153K|SPAG6_ENST00000376601.1_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	178					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CTGTATCCAGGAGCCAGAAAT	0.463000													8	60					0	0	0.000978159	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948566	133948566	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:133948566G>A	ENST00000298622.4	+	4	1009	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGATGAAAAAGATGCCCGGCG	0.498000													5	30					0	0	0.00116845	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23826111	23826111	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:23826111G>A	ENST00000264867.2	-	6	897	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	260					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)				GTCAGAGGAAGAGATAAAGTT	0.348000													27	191					0	0	0.000491102	0	0
DAB1	1600	broad.mit.edu	37	1	57538063	57538063	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:57538063G>A	ENST00000371236.2	-	5	594	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	DAB1_ENST00000371231.1_Missense_Mutation_p.H111Y|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Missense_Mutation_p.H111Y|DAB1_ENST00000371230.1_Missense_Mutation_p.H111Y|DAB1_ENST00000371234.4_Missense_Mutation_p.H111Y|DAB1_ENST00000420954.2_Missense_Mutation_p.H111Y|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	111	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATATTTCATGAACAGCATGA	0.408000													11	50					0	0	0.000978159	0	0
PABPC4	8761	broad.mit.edu	37	1	40036935	40036935	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:40036935C>A	ENST00000372857.3	-	3	1266	c.474G>T	c.(472-474)atG>atT	p.M158I	PABPC4_ENST00000372858.3_Missense_Mutation_p.M158I|PABPC4_ENST00000372856.3_Missense_Mutation_p.M158I|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.M158I	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	158	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCATGCCATTCATCTTCTCGA	0.547000													49	110					9.79885e-19	6.23486e-18	0.000781405	1	0
HPX	3263	broad.mit.edu	37	11	6452878	6452878	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:6452878G>A	ENST00000265983.3	-	9	1222	c.1122C>T	c.(1120-1122)atC>atT	p.I374I		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	374					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CACCTGCCATGATATGGAGCC	0.577000													6	65					0	0	8.12818e-05	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:207170939C>T	ENST00000374423.3	+	5	2073	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	563							nucleic acid binding|zinc ion binding	p.R563W(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438000													5	35					0	0	0.000602214	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032317	142032317	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:142032317C>T	ENST00000547918.2	+	0	170																											GATCCAATTTCAGGTCATAAT	0.502000													7	11					0	0	0.000157383	0	0
ZNF480	147657	broad.mit.edu	37	19	52825755	52825755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:52825755C>T	ENST00000595962.1	+	5	1318	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R341*|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R375*|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGCACGACATCGAAGAATTCA	0.378000													19	104					0	0	0.00074312	0	0
IPMK	253430	broad.mit.edu	37	10	59955965	59955965	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:59955965C>T	ENST00000373935.3	-	6	1445	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	375						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TCAGCAATCTCTTGGCAACCA	0.393000													25	102					0	0	0.000720815	0	0
MKI67	4288	broad.mit.edu	37	10	129906706	129906706	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:129906706G>A	ENST00000368654.3	-	13	3773	c.3398C>T	c.(3397-3399)cCa>cTa	p.P1133L	MKI67_ENST00000368653.3_Missense_Mutation_p.P773L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1133	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGATTCTGGTGGTGGAGATTT	0.463000													43	220					0	0	0.000781405	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415599	210415599	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:210415599G>A	ENST00000367012.3	+	4	1218	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	330							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CAATGTAAATGAATCTTGGAA	0.403000													7	51					0	0	8.12818e-05	0	0
WFDC8	90199	broad.mit.edu	37	20	44184421	44184421	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:44184421G>A	ENST00000357199.4	-	4	442	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	WFDC8_ENST00000289953.2_Missense_Mutation_p.P122S	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	122	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TATTTGAAGGGTGTGCAGCGG	0.488000													8	51					0	0	0.000274275	0	0
DEFB124	245937	broad.mit.edu	37	20	30053465	30053465	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:30053465C>T	ENST00000317676.2	-	2	59	c.58_splice	c.e2-1	p.G20_splice		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	20					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCACTTCTCCCTAAACAGA	0.517000													8	49					0	0	0.000157383	0	0
ADAM19	8728	broad.mit.edu	37	5	156920179	156920179	+	Silent	SNP	C	C	T	rs143295058	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:156920179C>T	ENST00000257527.4	-	16	1788	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	ADAM19_ENST00000394020.1_Silent_p.A572A|ADAM19_ENST00000430702.2_Silent_p.A303A|ADAM19_ENST00000517905.1_Silent_p.A570A	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	570	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCACACTTCGCATCTCTGG	0.562000													19	40					0	0	0.00188189	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195672	18195672	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:18195672T>C	ENST00000314254.3	+	1	1289	c.869T>C	c.(868-870)gTt>gCt	p.V290A	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	290						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGAAGCTGGTTCTCCAGAGG	0.537000													24	40					0	0	0.000295444	0	0
B4GALT5	9334	broad.mit.edu	37	20	48263559	48263559	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:48263559G>A	ENST00000371711.4	-	3	494	c.307C>T	c.(307-309)Cct>Tct	p.P103S		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AAGTCTTCAGGAAGAAATGTT	0.438000													5	64					0	0	0.00116845	0	0
ZNF700	90592	broad.mit.edu	37	19	12059187	12059187	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:12059187G>A	ENST00000482090.1	+	3	712	c.294G>A	c.(292-294)gaG>gaA	p.E98E	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.E116E|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACTTCCAGGAGAAGAAAGCTT	0.403000													19	120					0	0	0.00152264	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147314	26147314	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:26147314G>A	ENST00000331351.5	+	2	1508	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	372					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCAAAGTACAGGATTTTCTAG	0.502000													9	58					0	0	0.000442599	0	0
OR2A5	393046	broad.mit.edu	37	7	143747899	143747899	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143747899C>T	ENST00000408906.2	+	1	439	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTCTGTCATCATGAGATGGG	0.502000													14	91					0	0	0.000422831	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398536	57398536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:57398536G>A	ENST00000300101.2	-	2	251	c.166C>T	c.(166-168)Cag>Tag	p.Q56*		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	56	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AAGAGGTTCTGGAAGTAGCCA	0.577000													39	87					0	0	0.00195071	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111926203	111926203	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:111926203C>T	ENST00000375741.2	+	11	1429	c.1179C>T	c.(1177-1179)agC>agT	p.S393S	ARHGEF7_ENST00000478679.1_Silent_p.S137S|ARHGEF7_ENST00000375739.2_Silent_p.S343S|ARHGEF7_ENST00000426073.2_Silent_p.S215S|ARHGEF7_ENST00000370623.3_Silent_p.S300S|ARHGEF7_ENST00000375736.4_Silent_p.S215S|ARHGEF7_ENST00000375737.5_Silent_p.S290S|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000218789.5_Silent_p.S215S|ARHGEF7_ENST00000375723.1_Silent_p.S215S|ARHGEF7_ENST00000317133.5_Silent_p.S372S|ARHGEF7_ENST00000483189.1_3'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	393	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCCAGCAGCCCTGGGATTC	0.557000													16	45					0	0	0.000958276	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769267	25769267	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:25769267C>T	ENST00000377905.4	+	3	265	c.146C>T	c.(145-147)tCa>tTa	p.S49L	SLC17A4_ENST00000439485.2_Missense_Mutation_p.S49L|SLC17A4_ENST00000397076.2_5'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	49					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTAATTTTTCAATTTACACC	0.478000													43	48					0	0	0.000680045	0	0
TFEB	7942	broad.mit.edu	37	6	41654895	41654895	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:41654895C>T	ENST00000394283.1	-	7	1966	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	TFEB_ENST00000230323.4_Missense_Mutation_p.R247Q|TFEB_ENST00000358871.2_Missense_Mutation_p.R261Q|TFEB_ENST00000420312.1_Missense_Mutation_p.R162Q|TFEB_ENST00000403298.4_Missense_Mutation_p.R247Q|TFEB_ENST00000373033.1_Missense_Mutation_p.R247Q			P19484	TFEB_HUMAN	transcription factor EB	247					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTTGAACCTTCGTCTCCTTTC	0.557000			T	ALPHA	renal (childhood epithelioid)								24	36					0	0	0.00127121	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117552	4117552	+	Silent	SNP	G	G	A	rs147814905		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:4117552G>A	ENST00000262948.5	-	2	421	c.168C>T	c.(166-168)gcC>gcT	p.A56A	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	56					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGAGAAAGGCTTCCAGCC	0.602000													13	68					0	0	0.000219431	0	0
POLA2	23649	broad.mit.edu	37	11	65056524	65056524	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:65056524G>A	ENST00000265465.3	+	12	1666	c.1135G>A	c.(1135-1137)Ggc>Agc	p.G379S	POLA2_ENST00000541089.1_Missense_Mutation_p.G171S	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	379					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTTGCAGTTTGGCCCTTTCCT	0.498000													22	152					0	0	0.000586117	0	0
MIER1	57708	broad.mit.edu	37	1	67450578	67450578	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:67450578G>A	ENST00000357692.2	+	15	1842	c.1585G>A	c.(1585-1587)Gac>Aac	p.D529N	MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000355356.3_Missense_Mutation_p.D512N|MIER1_ENST00000401041.1_Missense_Mutation_p.D565N|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Intron	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	536					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AAACACAGATGACTAAATTTT	0.353000													21	42					0	0	0.000375601	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544428	89544428	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:89544428C>T	ENST00000468494.1	-	0	225																											GGAGATTGGCCTGGCCTCTGC	0.527000													31	85					0	0	0.000781405	0	0
OTOGL	283310	broad.mit.edu	37	12	80672845	80672845	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:80672845C>T	ENST00000458043.2	+	25	2806	c.2800C>T	c.(2800-2802)Cca>Tca	p.P934S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P934S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACATATTATCCATGCCCAGC	0.353000													26	203					0	0	0.000409698	0	0
PCNXL2	80003	broad.mit.edu	37	1	233150453	233150453	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:233150453C>T	ENST00000258229.8	-	28	5144	c.4910G>A	c.(4909-4911)gGg>gAg	p.G1637E	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G289E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1637						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCTCTCCTCCCCAGGGTGCA	0.537000													10	58					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179460364	179460364	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179460364G>A	ENST00000589042.1	-	295	57941	c.57717C>T	c.(57715-57717)acC>acT	p.T19239T	TTN_ENST00000342992.6_Silent_p.T16671T|TTN_ENST00000342175.6_Silent_p.T10366T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.T10174T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T17598T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.T10299T|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17598	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTGTCGGGTAACTGTAT	0.443000													9	20					0	0	0.000673444	0	0
SCN10A	6336	broad.mit.edu	37	3	38755548	38755548	+	Silent	SNP	C	C	T	rs147376215		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:38755548C>T	ENST00000449082.2	-	21	3704	c.3705G>A	c.(3703-3705)gcG>gcA	p.A1235A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1235					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAATCTTCGCTGTGAGAC	0.537000													11	60					0	0	0.00136819	0	0
B4GALT5	9334	broad.mit.edu	37	20	48263558	48263558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:48263558G>A	ENST00000371711.4	-	3	495	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GAAGTCTTCAGGAAGAAATGT	0.438000													5	64					0	0	0.00116845	0	0
PCLO	27445	broad.mit.edu	37	7	82545686	82545686	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:82545686G>A	ENST00000423517.2	-	7	11953	c.11616C>T	c.(11614-11616)acC>acT	p.T3872T	PCLO_ENST00000437081.1_Silent_p.T592T|PCLO_ENST00000333891.8_Silent_p.T3872T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3803	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTCTGTTTGGGTTTGTGGTG	0.478000													46	249					0	0	0.000781405	0	0
ZBBX	79740	broad.mit.edu	37	3	167023676	167023676	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:167023676C>T	ENST00000392766.2	-	17	1820	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ZBBX_ENST00000392767.2_Missense_Mutation_p.E494K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E494K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E494K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E465K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	494						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAATTTTTTCAATGTCAGAA	0.318000													7	35					0	0	0.000157383	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078632	107078632	+	RNA	SNP	T	T	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:107078632T>A	ENST00000390628.2	-	0	152																											CCCAGGCTTCTTCACCTCAGG	0.562000													9	46					0	0	0.000673444	0	0
CD163	9332	broad.mit.edu	37	12	7640053	7640053	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:7640053T>G	ENST00000359156.4	-	8	2154	c.1952A>C	c.(1951-1953)cAc>cCc	p.H651P	CD163_ENST00000396620.3_Missense_Mutation_p.H684P|CD163_ENST00000541972.1_Missense_Mutation_p.H639P|CD163_ENST00000432237.2_Missense_Mutation_p.H651P	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	651	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCAGTGCAGTGAAACATATG	0.488000													17	53					0	0	0.000566183	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85546805	85546805	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:85546805C>T	ENST00000393217.2	+	21	4484	c.4423C>T	c.(4423-4425)Cct>Tct	p.P1475S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1475										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAAAGATTCCTGGAAACTT	0.284000													12	81					0	0	0.000219431	0	0
LCT	3938	broad.mit.edu	37	2	136590681	136590681	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:136590681C>T	ENST00000264162.2	-	2	730	c.720_splice	c.e2+1	p.Q240_splice		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	240	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCTGTCACCTGGGCAAGCG	0.443000													37	210					0	0	0.000437636	0	0
ZNF883	169834	broad.mit.edu	37	9	115760460	115760460	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:115760460G>A	ENST00000427548.1	-	0	1353							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CTGGGTCAGGGATGCAAGACA	0.388000													18	78					0	0	0.00121646	0	0
ZIM3	114026	broad.mit.edu	37	19	57647025	57647025	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:57647025T>C	ENST00000269834.1	-	5	1065	c.680A>G	c.(679-681)aAc>aGc	p.N227S		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTTCCACAGTTCTCACATTT	0.413000													25	116					0	0	0.00106085	0	0
PCDH18	54510	broad.mit.edu	37	4	138452728	138452728	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:138452728T>A	ENST00000344876.4	-	1	901	c.515A>T	c.(514-516)cAc>cTc	p.H172L	PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.H172L|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	172	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGAGTATGTGTGGAGGGAATT	0.458000													6	37					0	0	8.12818e-05	0	0
UBE4B	10277	broad.mit.edu	37	1	10166366	10166366	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:10166366C>T	ENST00000343090.6	+	7	996	c.921C>T	c.(919-921)tcC>tcT	p.S307S	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	307					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGTGCCTTCCACTCCCCTCA	0.632000													13	27					0	0	0.000422831	0	0
CASD1	64921	broad.mit.edu	37	7	94167139	94167139	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:94167139C>T	ENST00000297273.4	+	9	1486	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	400						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATACACATTCATCTTTCTTT	0.299000													13	61					0	0	0.00185496	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43800297	43800297	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:43800297G>A	ENST00000291532.3	-	10	1932	c.977C>T	c.(976-978)cCc>cTc	p.P326L	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.P324L|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.P410L|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.P326L|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	326	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TTCAGAGTTGGGCAGGCACAC	0.507000													12	29					0	0	0.00185496	0	0
OR10K2	391107	broad.mit.edu	37	1	158390110	158390110	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:158390110G>A	ENST00000314902.2	-	1	546	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183N(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGAGGACAGGAGCAATGTCA	0.443000													10	65					0	0	0.000978159	0	0
TRIM67	440730	broad.mit.edu	37	1	231349598	231349598	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:231349598G>C	ENST00000444294.3	+	9	3013	c.2155G>C	c.(2155-2157)Gtg>Ctg	p.V719L	TRIM67_ENST00000366652.2_Missense_Mutation_p.V721L|TRIM67_ENST00000449018.3_Missense_Mutation_p.V659L|TRIM67_ENST00000366653.5_Missense_Mutation_p.V721L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	721	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CACCGTGGGCGTGCTGCTGGA	0.612000													13	82					0	0	0.00185496	0	0
WDR33	55339	broad.mit.edu	37	2	128477302	128477302	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:128477302C>T	ENST00000322313.4	-	16	2455	c.2297G>A	c.(2296-2298)gGg>gAg	p.G766E		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	766	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACCTTGGATCCCTTGAGACCC	0.617000													6	35					0	0	8.12818e-05	0	0
NACC2	138151	broad.mit.edu	37	9	138905089	138905089	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:138905089G>A	ENST00000371753.1	-	4	1269	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	NACC2_ENST00000277554.2_Missense_Mutation_p.P404L			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	404	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CTTCCGGCTGGGGTCGCTGGT	0.672000													11	66					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179585312	179585312	+	Missense_Mutation	SNP	G	G	A	rs17452588	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179585312G>A	ENST00000589042.1	-	80	23401	c.23177C>T	c.(23176-23178)tCg>tTg	p.S7726L	TTN_ENST00000342992.6_Missense_Mutation_p.S6482L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7409L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7409	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGAGTTCCCGAAATTTCACA	0.383000													10	40					0	0	0.000673444	0	0
PCDH12	51294	broad.mit.edu	37	5	141336804	141336804	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:141336804C>T	ENST00000231484.3	-	1	1823	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	205	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGGATTTCCCTGTCCAGC	0.493000													30	59					0	0	0.00058488	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560291	101560291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:101560291G>A	ENST00000536262.2	-	12	2065	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	503					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTATATTTGAAAAACACTA	0.328000													9	49					0	0	0.000673444	0	0
SMOX	54498	broad.mit.edu	37	20	4162476	4162476	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:4162476C>T	ENST00000305958.4	+	4	687	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SMOX_ENST00000278795.3_Silent_p.F154F|SMOX_ENST00000339123.6_Silent_p.F154F|SMOX_ENST00000379460.2_Silent_p.F154F|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000484515.1_3'UTR	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	154					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGGAGTTCTTCCGGCACGATA	0.527000													9	55					0	0	0.000442599	0	0
PROX2	283571	broad.mit.edu	37	14	75323691	75323691	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:75323691C>T	ENST00000556084.2	-	2	739	c.740G>A	c.(739-741)cGc>cAc	p.R247H	PROX2_ENST00000445876.1_Missense_Mutation_p.R474H|PROX2_ENST00000556489.2_Missense_Mutation_p.R474H	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	474					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGTAATGCAGCGGTTGAACTG	0.448000													28	132					0	0	0.00178596	0	0
SPG7	6687	broad.mit.edu	37	16	89603247	89603247	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:89603247C>T	ENST00000341316.2	+	10	1406	c.1399C>T	c.(1399-1401)Ctc>Ttc	p.L467F	SPG7_ENST00000268704.2_Intron	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	347					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGCTCCTGTCTCACGGAGCC	0.582000													34	104					0	0	0.000692331	0	0
TSC2	7249	broad.mit.edu	37	16	2105450	2105450	+	Missense_Mutation	SNP	C	C	T	rs137854207		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:2105450C>T	ENST00000219476.3	+	6	1159	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	TSC2_ENST00000568454.1_Missense_Mutation_p.L188F|TSC2_ENST00000439673.2_Missense_Mutation_p.L140F|TSC2_ENST00000350773.4_Missense_Mutation_p.L177F|TSC2_ENST00000382538.6_Missense_Mutation_p.L128F|TSC2_ENST00000401874.2_Missense_Mutation_p.L177F|TSC2_ENST00000353929.4_Missense_Mutation_p.L177F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	177	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTCGGAATTCCTTCTGGTGCT	0.498000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				47	122					0	0	0.000781405	0	0
OR52E8	390079	broad.mit.edu	37	11	5878637	5878637	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5878637G>A	ENST00000537935.1	-	1	327	c.296C>T	c.(295-297)tCt>tTt	p.S99F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCAAAAGATATTTCTTT	0.463000													15	158					0	0	0.000566183	0	0
TENM3	55714	broad.mit.edu	37	4	183717907	183717907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:183717907G>A	ENST00000511685.1	+	27	7454	c.7331G>A	c.(7330-7332)tGg>tAg	p.W2444*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.W2444*					teneurin transmembrane protein 3																		AGTCAGCAGTGGGATGATATA	0.398000													5	23					0	0	0.000602214	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356606	47356606	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:47356606C>T	ENST00000545968.1	-	27	2946	c.2892G>A	c.(2890-2892)gtG>gtA	p.V964V	MYBPC3_ENST00000256993.4_Silent_p.V963V|MYBPC3_ENST00000399249.2_Silent_p.V964V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	963					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGATCTCCTGCACTGTCACCG	0.647000													7	11					0	0	0.000442599	0	0
ABCC10	89845	broad.mit.edu	37	6	43413675	43413675	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:43413675C>T	ENST00000244533.3	+	13	3644	c.3285C>T	c.(3283-3285)acC>acT	p.T1095T	ABCC10_ENST00000372530.4_Silent_p.T1123T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1123	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGGGGCCACCTACAGGTGTG	0.617000													23	14					0	0	0.000720815	0	0
CUBN	8029	broad.mit.edu	37	10	17087009	17087009	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:17087009C>T	ENST00000377833.4	-	25	3734	c.3669G>A	c.(3667-3669)ctG>ctA	p.L1223L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1223	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACATACAGCCAGGTAATCTA	0.423000													8	62					0	0	0.000978159	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453526	143453526	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143453526C>T	ENST00000470691.2	-	1	1263	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					TTCCTCTATTCGGTAATTTTC	0.373000													13	105					0	0	0.00136819	0	0
NXT1	29107	broad.mit.edu	37	20	23334889	23334889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:23334889C>T	ENST00000254998.2	+	2	598	c.211C>T	c.(211-213)Caa>Taa	p.Q71*		NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	NTF2-like export factor 1	71	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGCGAGTTCCAAATCAGCGT	0.502000													13	43					0	0	0.00185496	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718918	142718918	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:142718918G>A	ENST00000381779.4	-	2	232	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	SLITRK4_ENST00000338017.4_Silent_p.L3L|SLITRK4_ENST00000356928.1_Silent_p.L3L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	3						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGCCACAGAAACATCTTC	0.348000													6	13					0	0	0.00116845	0	0
CDH17	1015	broad.mit.edu	37	8	95178008	95178008	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:95178008C>T	ENST00000027335.3	-	10	1387	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	CDH17_ENST00000450165.2_Silent_p.T421T|CDH17_ENST00000441892.2_Silent_p.T207T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	421	Cadherin 4.					integral to membrane	calcium ion binding	p.T421T(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACACCTCTATCGTTAAGTTGT	0.408000													19	67					0	0	0.00121646	0	0
MYO3B	140469	broad.mit.edu	37	2	171323057	171323057	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:171323057G>A	ENST00000334231.6	+	25	2877	c.2877G>A	c.(2875-2877)caG>caA	p.Q959Q	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.Q950Q|MYO3B_ENST00000408978.4_Silent_p.Q950Q			Q8WXR4	MYO3B_HUMAN	myosin IIIB	950	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGGTTGGACAGCCCCACTTTG	0.522000													25	77					0	0	0.00106085	0	0
SCN11A	11280	broad.mit.edu	37	3	38921572	38921572	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:38921572C>T	ENST00000450244.1	-	19	3460	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1050K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1088K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1088K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1088					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTTAGTAATTCTTGGATTTTG	0.358000													8	33					0	0	0.000274275	0	0
NRCAM	4897	broad.mit.edu	37	7	107872849	107872849	+	Silent	SNP	G	G	A	rs150948949		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:107872849G>A	ENST00000379028.3	-	7	818	c.348C>T	c.(346-348)acC>acT	p.T116T	NRCAM_ENST00000379022.4_Silent_p.T116T|NRCAM_ENST00000379024.4_Silent_p.T116T|NRCAM_ENST00000351718.4_Silent_p.T110T|NRCAM_ENST00000425651.2_Silent_p.T116T|NRCAM_ENST00000413765.2_Silent_p.T116T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	116	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTCCTTCATAGGTCTCAGCTT	0.468000													22	95					0	0	0.000375601	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420017	25420017	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:25420017G>A	ENST00000549301.1	+	0	752				SNHG14_ENST00000441592.2_RNA																							ACTGAGCCTTGGTGAGCCCAT	0.527000													13	48					0	0	0.00136819	0	0
RTEL1	51750	broad.mit.edu	37	20	62292792	62292792	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:62292792C>T	ENST00000318100.4	+	3	1071	c.244C>T	c.(244-246)Ccg>Tcg	p.P82S	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P82S|RTEL1_ENST00000508582.2_Missense_Mutation_p.P82S|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000370018.3_Missense_Mutation_p.P82S|RTEL1_ENST00000360203.5_Missense_Mutation_p.P82S			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	82	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGAGCTTTTCCCGGATCGGGC	0.647000													6	24					0	0	8.12818e-05	0	0
VPS33A	65082	broad.mit.edu	37	12	122745861	122745861	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:122745861G>A	ENST00000267199.4	-	4	542	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L144F|VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Missense_Mutation_p.L144F	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	144					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATGGAATGAGATCTAAGCTG	0.453000													12	59					0	0	0.00136819	0	0
USP36	57602	broad.mit.edu	37	17	76800017	76800017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:76800017G>A	ENST00000312010.6	-	16	2584	c.2260C>T	c.(2260-2262)Ccc>Tcc	p.P754S	USP36_ENST00000542802.2_Missense_Mutation_p.P754S|USP36_ENST00000449938.2_Missense_Mutation_p.P454S	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	754					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGCTGAAGGGGGGTTGCAGG	0.632000													30	48					0	0	0.000953801	0	0
OR52E2	119678	broad.mit.edu	37	11	5080058	5080058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5080058C>T	ENST00000321522.2	-	1	799	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478000													12	86					0	0	0.00136819	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561165	11561165	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:11561165G>A	ENST00000294484.6	+	2	254	c.116G>A	c.(115-117)gGg>gAg	p.G39E	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G39E	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	39			G -> R (in dbSNP:rs41274528).		cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCCAACCTGGGGCAGGGGGA	0.647000													16	20					0	0	0.000958276	0	0
COL18A1	80781	broad.mit.edu	37	21	46902721	46902721	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:46902721G>C	ENST00000359759.4	+	14	2953	c.2932G>C	c.(2932-2934)Gcc>Ccc	p.A978P	COL18A1_ENST00000400337.2_Missense_Mutation_p.A563P|COL18A1_ENST00000355480.5_Missense_Mutation_p.A743P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	978	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGCAGGCGCCCCAGGACA	0.592000													5	40					0	0	8.12818e-05	0	0
DNAH2	146754	broad.mit.edu	37	17	7720620	7720620	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:7720620G>A	ENST00000572933.1	+	65	11367	c.9907G>A	c.(9907-9909)Gac>Aac	p.D3303N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D3303N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3303					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGGAGGAGGACCTGGGCTA	0.602000													11	56					0	0	0.00185496	0	0
S1PR3	1903	broad.mit.edu	37	9	91616967	91616967	+	Silent	SNP	C	C	T	rs149061614		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:91616967C>T	ENST00000375846.3	+	1	5547	c.852C>T	c.(850-852)atC>atT	p.I284I	S1PR3_ENST00000358157.2_Silent_p.I284I			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	284					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGTGGTTCATCGTGTTGGCTG	0.597000													6	29					0	0	0.000157383	0	0
OR4C11	219429	broad.mit.edu	37	11	55371162	55371162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:55371162C>T	ENST00000302231.4	-	1	712	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTTTCTTCCCTTTGGCACTG	0.408000													24	19					0	0	0.000878237	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935535	151935535	+	Missense_Mutation	SNP	C	C	T	rs34624093	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:151935535C>T	ENST00000393902.3	-	3	1199	c.632G>A	c.(631-633)aGa>aAa	p.R211K	MAGEA3_ENST00000370278.3_Missense_Mutation_p.R211K			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	211	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGCCCTCTCTTGCGATTAT	0.562000													29	56					0	0	0.00111076	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383338	61383338	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:61383338G>A	ENST00000544088.1	+	0	489				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ACAGTCTACAGAAGAAACGAG	0.338000													5	43					0	0	8.12818e-05	0	0
BAAT	570	broad.mit.edu	37	9	104130542	104130542	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:104130542G>A	ENST00000259407.2	-	3	637	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	BAAT_ENST00000395051.3_Missense_Mutation_p.R177W	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	177					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGCTGGCCCGAAATTCAAGC	0.478000													9	49					0	0	0.000978159	0	0
MYH2	4620	broad.mit.edu	37	17	10430078	10430078	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:10430078G>A	ENST00000245503.5	-	30	4409	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S1342F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1342					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTCGTGGCGGGAAGACTGCAG	0.522000													9	43					0	0	0.000673444	0	0
CIT	11113	broad.mit.edu	37	12	120196499	120196499	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:120196499G>A	ENST00000392521.2	-	21	2482	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	CIT_ENST00000261833.7_Silent_p.I767I|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	767					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCATAGCATTGATCATCTGAA	0.458000													20	101					0	0	0.000295444	0	0
ROBO2	6092	broad.mit.edu	37	3	77600111	77600111	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:77600111T>A	ENST00000461745.1	+	8	2102	c.1202T>A	c.(1201-1203)tTa>tAa	p.L401*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.L401*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.L417*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	401	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGAAGCATTTTAGCAAAAGCT	0.418000													9	44					0	0	0.000673444	0	0
ITGAX	3687	broad.mit.edu	37	16	31373954	31373954	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:31373954C>T	ENST00000268296.4	+	12	1360	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	ITGAX_ENST00000562522.1_Silent_p.L413L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	413					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCTGGCCCTCTGGAAAGGGG	0.672000													5	10					0	0	0.000602214	0	0
FGFR2	2263	broad.mit.edu	37	10	123263424	123263424	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:123263424G>A	ENST00000358487.5	-	10	1591	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	FGFR2_ENST00000369056.1_Missense_Mutation_p.S441F|FGFR2_ENST00000357555.5_Missense_Mutation_p.S351F|FGFR2_ENST00000369061.4_Missense_Mutation_p.S328F|FGFR2_ENST00000369060.4_Missense_Mutation_p.S324F|FGFR2_ENST00000478859.1_Missense_Mutation_p.S212F|FGFR2_ENST00000346997.2_Missense_Mutation_p.S438F|FGFR2_ENST00000369059.1_Missense_Mutation_p.S326F|FGFR2_ENST00000457416.2_Missense_Mutation_p.S441F|FGFR2_ENST00000356226.4_Missense_Mutation_p.S323F|FGFR2_ENST00000360144.3_Missense_Mutation_p.S352F|FGFR2_ENST00000351936.6_Missense_Mutation_p.S438F	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	440					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CGGGGTGTTGGAGTTCATGGA	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				7	29					0	0	8.12818e-05	0	0
PXDNL	137902	broad.mit.edu	37	8	52387667	52387667	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:52387667C>T	ENST00000356297.4	-	7	659	c.559G>A	c.(559-561)Gat>Aat	p.D187N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D187N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	187	LRRCT.				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)				CACATCAGATCACAGTCACAA	0.512000													10	38					0	0	0.000219431	0	0
LPHN3	23284	broad.mit.edu	37	4	62363038	62363038	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:62363038C>T	ENST00000512091.1	+	3	774	c.27C>T	c.(25-27)ttC>ttT	p.F9F	LPHN3_ENST00000509896.1_Silent_p.F9F|LPHN3_ENST00000514996.1_Silent_p.F9F|LPHN3_ENST00000504896.1_Silent_p.F9F|LPHN3_ENST00000511324.1_Silent_p.F9F|LPHN3_ENST00000545650.1_Silent_p.F9F|LPHN3_ENST00000506720.1_Silent_p.F9F|LPHN3_ENST00000508946.1_Silent_p.F9F|LPHN3_ENST00000514157.1_Silent_p.F9F|LPHN3_ENST00000506746.1_Silent_p.F9F|LPHN3_ENST00000514591.1_Silent_p.F9F|LPHN3_ENST00000506700.1_Silent_p.F9F|LPHN3_ENST00000507625.1_Silent_p.F9F|LPHN3_ENST00000508693.1_Silent_p.F9F|LPHN3_ENST00000507164.1_Silent_p.F9F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTAATTTTCATGATGCTCT	0.363000													8	36					0	0	0.000442599	0	0
GPC5	2262	broad.mit.edu	37	13	92346025	92346025	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:92346025G>A	ENST00000377067.3	+	3	1282	c.910G>A	c.(910-912)Gat>Aat	p.D304N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	304						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAACTCTCGGATGCAATGCA	0.483000													16	92					0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9049612	9049612	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9049612G>A	ENST00000397910.4	-	5	32222	c.32019C>T	c.(32017-32019)tcC>tcT	p.S10673S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10675	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCATGTGGGGACTTAGTCA	0.448000													14	58					0	0	0.000219431	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:176983946C>T	ENST00000367654.2	-	8	1541	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	ASTN1_ENST00000367657.3_Missense_Mutation_p.E502K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E502K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E502K			O14525	ASTN1_HUMAN	astrotactin 1	510					cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCCCCATTCGTTCCGAATG	0.493000													54	226					0	0	0.000781405	0	0
SH3BGR	6450	broad.mit.edu	37	21	40880956	40880956	+	Splice_Site	SNP	T	T	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:40880956T>G	ENST00000333634.4	+	5	702		c.e5+2		SH3BGR_ENST00000380631.1_Splice_Site|SH3BGR_ENST00000380637.3_Splice_Site|SH3BGR_ENST00000380634.1_Splice_Site|SH3BGR_ENST00000458295.1_Splice_Site	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein						protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		ACAGAAGAGGTACGGTCGACC	0.353000													7	56					0	0	0.000673444	0	0
DCLK1	9201	broad.mit.edu	37	13	36700265	36700265	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:36700265C>A	ENST00000255448.4	-	2	221	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C	DCLK1_ENST00000360631.3_Missense_Mutation_p.G4C|DCLK1_ENST00000379892.4_Missense_Mutation_p.G4C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	4					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGTCTCTGCCGAAGGACATG	0.507000													18	57					3.28513e-13	2.08423e-12	0.000586117	1	0
NLRP7	199713	broad.mit.edu	37	19	55445094	55445094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:55445094G>A	ENST00000588756.1	-	10	2971	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C	NLRP7_ENST00000592784.1_Missense_Mutation_p.R829C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R829C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R829C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R801C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R801C|NLRP7_ENST00000446217.1_Missense_Mutation_p.R857C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	829							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTGTAAGACGACAGTTTTCC	0.478000													13	53					0	0	0.00185496	0	0
AHNAK	79026	broad.mit.edu	37	11	62294950	62294950	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:62294950G>A	ENST00000378024.4	-	5	7213	c.6939C>T	c.(6937-6939)tcC>tcT	p.S2313S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2313					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCAGGCATGGAGATCTTGG	0.468000													31	168					0	0	0.000491102	0	0
LYG2	254773	broad.mit.edu	37	2	99861920	99861920	+	Splice_Site	SNP	C	C	T	rs142190861	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:99861920C>T	ENST00000409679.1	-	4	330	c.184_splice	c.e4-1	p.G62_splice	LYG2_ENST00000409238.1_Splice_Site_p.G62_splice|LYG2_ENST00000333017.2_Splice_Site_p.G62_splice			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	62					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AACCACGGATCCCTACGTCAA	0.478000													7	40					0	0	0.000157383	0	0
SDK2	54549	broad.mit.edu	37	17	71364628	71364628	+	Silent	SNP	G	G	A	rs146100082	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:71364628G>A	ENST00000392650.3	-	37	5085	c.5085C>T	c.(5083-5085)gcC>gcT	p.A1695A	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1676A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1695	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCATGTAGGCCGTGTAGC	0.632000													8	25					0	0	0.000442599	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537225	5537225	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5537225G>A	ENST00000380184.1	-	1	710	c.447C>T	c.(445-447)gcC>gcT	p.A149A	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	149										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CCACAAAGTGGGCCAGTTCCA	0.527000													14	32					0	0	0.000308642	0	0
CNTROB	116840	broad.mit.edu	37	17	7843499	7843499	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:7843499G>A	ENST00000380262.3	+	9	2175	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	CNTROB_ENST00000565740.1_Missense_Mutation_p.G417E|CNTROB_ENST00000563694.1_Missense_Mutation_p.G417E|CNTROB_ENST00000380255.3_Missense_Mutation_p.G417E	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	417	Required for centrosome localization.				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)				CGGCTGGAAGGAGAGCTGGAT	0.562000													14	88					0	0	0.000308642	0	0
EPHA6	285220	broad.mit.edu	37	3	97439109	97439109	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:97439109G>A	ENST00000389672.5	+	15	2827	c.2789G>A	c.(2788-2790)gGa>gAa	p.G930E		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	835	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTCCAGGGTGGAAAAATCCCC	0.393000													14	70					0	0	0.000566183	0	0
ANLN	54443	broad.mit.edu	37	7	36450702	36450702	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:36450702G>A	ENST00000265748.2	+	7	1543	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ANLN_ENST00000396068.2_Missense_Mutation_p.R441Q|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	441	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTTCGTGGCCGATTTGACAAG	0.378000													15	48					0	0	0.000566183	0	0
FMO3	2328	broad.mit.edu	37	1	171073096	171073096	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:171073096G>A	ENST00000367755.4	+	3	414	c.303G>A	c.(301-303)ctG>ctA	p.L101L	FMO3_ENST00000392085.2_Silent_p.L101L|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Silent_p.L81L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	101					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACCTCCTGAAGTACATAC	0.378000													5	39					0	0	0.000602214	0	0
ABCB11	8647	broad.mit.edu	37	2	169869860	169869860	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:169869860C>T	ENST00000263817.6	-	5	435	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	104	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACATGCTTTTCCTGGAATCTG	0.413000													72	198					0	0	0.000781405	0	0
USP54	159195	broad.mit.edu	37	10	75289504	75289504	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:75289504C>A	ENST00000339859.4	-	14	2094	c.1994G>T	c.(1993-1995)aGt>aTt	p.S665I	USP54_ENST00000428547.1_Missense_Mutation_p.S515I|USP54_ENST00000408019.1_Missense_Mutation_p.S665I|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.S665I|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	665					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTCCTCTCACTGCTTTCATA	0.557000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	124					2.39556e-15	1.52205e-14	0.000375601	1	0
PRKCG	5582	broad.mit.edu	37	19	54387439	54387439	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:54387439G>A	ENST00000263431.3	+	3	509	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	PRKCG_ENST00000540413.1_Missense_Mutation_p.R76Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R76Q|PRKCG_ENST00000542049.1_De_novo_Start_InFrame	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	76					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	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;0.0521)		GTTCATCGACGATGCCACGAA	0.567000													14	64					0	0	0.000566183	0	0
BRD4	23476	broad.mit.edu	37	19	15355540	15355540	+	Missense_Mutation	SNP	G	G	C	rs149185763	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:15355540G>C	ENST00000263377.2	-	12	2413	c.2192C>G	c.(2191-2193)cCc>cGc	p.P731R		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	731					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTCCCTCCCGGGGTGCCCCTT	0.582000			T	C15orf55	lethal midline carcinoma of young people								4	96					0	0	0.000602214	0	0
PQLC2	54896	broad.mit.edu	37	1	19652757	19652757	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:19652757C>T	ENST00000375153.3	+	5	1041	c.401C>T	c.(400-402)tCc>tTc	p.S134F	PQLC2_ENST00000375155.3_Missense_Mutation_p.S134F|PQLC2_ENST00000400548.2_Missense_Mutation_p.S69F	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	134						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCAACTCCGTGCTGTTG	0.662000													9	23					0	0	0.000308642	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150346	39150346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:39150346C>T	ENST00000391586.1	-	1	39	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	2						keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				GCACAGCAATCCATGGCTATT	0.527000													9	92					0	0	0.000978159	0	0
LIFR	3977	broad.mit.edu	37	5	38496621	38496621	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:38496621G>A	ENST00000263409.4	-	13	1910	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.S583F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	583	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTCAGAAAGGGACTGTGTTTC	0.383000			T	PLAG1	salivary adenoma								27	63					0	0	0.00106085	0	0
PDCL2	132954	broad.mit.edu	37	4	56448350	56448350	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:56448350G>A	ENST00000295645.4	-	2	163	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	21										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TCTTTAGGAGGAAGAATGCCG	0.358000													12	64					0	0	0.000308642	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528321	6528321	+	Missense_Mutation	SNP	G	G	A	rs150666859		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:6528321G>A	ENST00000377748.1	-	21	3303	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R915C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R928C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R859C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R896C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R938C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R859C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	915					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCGGCGGCGGAGACGGGGC	0.677000													15	20					0	0	0.000422831	0	0
REN	5972	broad.mit.edu	37	1	204125924	204125924	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:204125924C>T	ENST00000367195.2	-	6	733	c.689_splice	c.e6-1	p.R230_splice	REN_ENST00000272190.8_Splice_Site_p.E233_splice			P00797	RENI_HUMAN	renin	230			R -> K (in RTD).		angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	ATTGGGAATTCCTAAAGGAAA	0.522000													7	49					0	0	0.000157383	0	0
DNAH1	25981	broad.mit.edu	37	3	52380497	52380497	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:52380497T>C	ENST00000420323.2	+	11	1927	c.1666T>C	c.(1666-1668)Ttc>Ctc	p.F556L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	556	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGCAGATGTTCCTCAAGGA	0.587000													4	10					0	0	0.000602214	0	0
ZNF812	729648	broad.mit.edu	37	19	9801638	9801638	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9801638C>T	ENST00000457674.2	-	5	1059	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATGTGATTATCAAGGCTTGCA	0.393000													5	16					0	0	0.00116845	0	0
ANK3	288	broad.mit.edu	37	10	61946488	61946488	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:61946488C>T	ENST00000280772.1	-	17	2261	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V	ANK3_ENST00000503366.1_Silent_p.V673V|ANK3_ENST00000373827.2_Silent_p.V684V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	690					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCTCAGGTTCACATTCGCAT	0.507000													9	25					0	0	0.000274275	0	0
LPA	4018	broad.mit.edu	37	6	161007508	161007508	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:161007508G>A	ENST00000447678.1	-	26	4222	c.4102C>T	c.(4102-4104)Cca>Tca	p.P1368S	LPA_ENST00000316300.5_Missense_Mutation_p.P1368S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3876	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTGTGCTTGGAACTGGGACC	0.478000													6	49					0	0	8.12818e-05	0	0
COPG1	22820	broad.mit.edu	37	3	128971792	128971792	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:128971792C>T	ENST00000314797.6	+	5	421	c.317C>T	c.(316-318)aCc>aTc	p.T106I		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	106					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										ATCATTGTCACCAGCAGGCAA	0.493000													7	46					0	0	0.000274275	0	0
STK31	56164	broad.mit.edu	37	7	23827599	23827599	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:23827599G>A	ENST00000354639.3	+	21	2883	c.2418_splice	c.e21-1	p.E807_splice	STK31_ENST00000428484.1_Splice_Site_p.E807_splice|STK31_ENST00000355870.3_Splice_Site_p.E830_splice|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Splice_Site_p.E830_splice	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	830	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTATCTATAGGAAACTTTAAA	0.348000													12	78					0	0	0.000219431	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956313	5956313	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:5956313G>A	ENST00000284898.6	-	20	1978	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P593L|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P397L|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P584L|RP11-793A3.1_ENST00000577704.1_RNA	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	593	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTTCAGTGCTGGGCCCAGTTT	0.458000													40	132					0	0	0.000509022	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762678	24762678	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:24762678G>A	ENST00000376451.2	+	2	782	c.522G>A	c.(520-522)agG>agA	p.R174R	KIAA1217_ENST00000430453.2_Silent_p.R377R|KIAA1217_ENST00000376454.3_Silent_p.R456R|KIAA1217_ENST00000396445.1_Silent_p.R174R|KIAA1217_ENST00000307544.6_Silent_p.R174R|KIAA1217_ENST00000458595.1_Silent_p.R456R|KIAA1217_ENST00000376462.1_Silent_p.R376R|KIAA1217_ENST00000396446.1_Silent_p.R174R|KIAA1217_ENST00000376452.3_Silent_p.R456R			Q5T5P2	SKT_HUMAN	KIAA1217	456					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAATCAAGGAAATATCCGG	0.502000													12	47					0	0	0.00185496	0	0
OR13C4	138804	broad.mit.edu	37	9	107289416	107289416	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:107289416G>A	ENST00000277216.3	-	1	74	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CAAAGAAAATGATCTCAAGTT	0.418000													7	29					0	0	8.12818e-05	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149200044	149200044	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:149200044G>A	ENST00000309241.5	+	2	159	c.127G>A	c.(127-129)Gac>Aac	p.D43N	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D43N|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D18N|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D43N	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	43	Abolishes DNA transcriptional activity when missing.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCCAGAACTTGACCTCTCCCA	0.582000													29	48					0	0	0.00178596	0	0
CPA1	1357	broad.mit.edu	37	7	130027837	130027837	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:130027837G>A	ENST00000011292.3	+	10	1395	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	CPA1_ENST00000484324.1_Silent_p.L327L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	415					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGCACACCCTGAATCACCCCT	0.567000													18	99					0	0	0.000958276	0	0
SRSF7	6432	broad.mit.edu	37	2	38977248	38977248	+	Silent	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:38977248A>G	ENST00000313117.6	-	2	354	c.117T>C	c.(115-117)acT>acC	p.T39T	SRSF7_ENST00000409276.1_Silent_p.T39T|SRSF7_ENST00000446327.2_Silent_p.T39T	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	39	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAATCCATACAGTTCTTAAAG	0.428000													25	59					0	0	0.000586117	0	0
KRT6A	3853	broad.mit.edu	37	12	52885395	52885395	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:52885395C>T	ENST00000330722.6	-	2	734	c.666G>A	c.(664-666)agG>agA	p.R222R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	222	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTGCCTCCTGAGGTTGT	0.567000													7	47					0	0	0.000157383	0	0
RIMS2	9699	broad.mit.edu	37	8	104709350	104709350	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:104709350G>A	ENST00000406091.3	+	2	213	c.213G>A	c.(211-213)caG>caA	p.Q71Q		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	102	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATAAAGAGCAGGTAAAGAAGA	0.388000										HNSCC(12;0.0054)			9	78					0	0	0.000442599	0	0
ETAA1	54465	broad.mit.edu	37	2	67631562	67631562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:67631562C>T	ENST00000272342.5	+	5	1878	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	583						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGGAATGATCCCTCATTTGCC	0.363000													18	106					0	0	0.00121646	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168027	1168027	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:1168027C>T	ENST00000379198.2	+	1	399	c.369C>T	c.(367-369)ccC>ccT	p.P123P		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	123					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCTGCTGCCCGCGCTGCGCG	0.736000													8	13					0	0	0.000274275	0	0
IKBKE	9641	broad.mit.edu	37	1	206666707	206666707	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:206666707C>T	ENST00000367120.3	+	20	2414	c.2041C>T	c.(2041-2043)Ctc>Ttc	p.L681F	IKBKE_ENST00000462698.1_3'UTR|C1orf147_ENST00000367119.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.L596F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	681					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGACCTGCTTCTCCAGTAAGT	0.582000													7	35					0	0	0.000157383	0	0
ANO2	57101	broad.mit.edu	37	12	5915235	5915235	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:5915235C>T	ENST00000356134.5	-	10	1035	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ANO2_ENST00000546188.1_Missense_Mutation_p.D322N|ANO2_ENST00000327087.8_Missense_Mutation_p.D321N	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	326						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATTCATATCGTCCTCTGGA	0.478000													11	48					0	0	0.00185496	0	0
STEAP4	79689	broad.mit.edu	37	7	87913481	87913481	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:87913481C>T	ENST00000380079.4	-	2	205	c.104G>A	c.(103-105)gGa>gAa	p.G35E	STEAP4_ENST00000414498.1_Missense_Mutation_p.G35E|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G35E|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	35					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATTTTCAATCCCAGTGATCT	0.413000													13	74					0	0	0.000219431	0	0
ABCA10	10349	broad.mit.edu	37	17	67190038	67190038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:67190038G>A	ENST00000269081.4	-	14	2347	c.1438C>T	c.(1438-1440)Caa>Taa	p.Q480*	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	480	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGTCAAATTGAAAATTGAAC	0.343000													19	162					0	0	0.000958276	0	0
KIAA0368	23392	broad.mit.edu	37	9	114178561	114178561	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:114178561G>A	ENST00000259335.4	-	19	2288	c.2289C>T	c.(2287-2289)gcC>gcT	p.A763A	KIAA0368_ENST00000338205.5_Silent_p.A585A	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCTCTCCAAAGGCTGCTGGGT	0.393000													12	68					0	0	0.00185496	0	0
COPG1	22820	broad.mit.edu	37	3	128976654	128976654	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:128976654C>T	ENST00000314797.6	+	10	926	c.822C>T	c.(820-822)atC>atT	p.I274I		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	274					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CCTCGGCCATCGTCAATCTGC	0.557000													21	110					0	0	0.00188189	0	0
LAMB3	3914	broad.mit.edu	37	1	209789916	209789916	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:209789916C>T	ENST00000391911.1	-	21	3671	c.3282G>A	c.(3280-3282)caG>caA	p.Q1094Q	LAMB3_ENST00000367030.3_Silent_p.Q1094Q|LAMB3_ENST00000356082.4_Silent_p.Q1094Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1094	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCATGGAACTCTGACCCAACC	0.488000													13	77					0	0	0.00136819	0	0
FAM81B	153643	broad.mit.edu	37	5	94784108	94784108	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:94784108G>A	ENST00000283357.5	+	9	1211	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	389										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CAAAAAGATGGAACAAATGGA	0.338000													13	31					0	0	0.000308642	0	0
MYPN	84665	broad.mit.edu	37	10	69948796	69948796	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:69948796C>T	ENST00000358913.5	+	13	3326	c.2838C>T	c.(2836-2838)atC>atT	p.I946I	MYPN_ENST00000354393.2_Silent_p.I671I|MYPN_ENST00000540630.1_Silent_p.I946I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	946	Ig-like 3.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTGCTCCCATCTTTGACAAGA	0.443000													11	49					0	0	0.000978159	0	0
POLR2E	5434	broad.mit.edu	37	19	1090091	1090091	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:1090091G>A	ENST00000215587.7	-	5	766	c.483C>T	c.(481-483)gcC>gcT	p.A161A	POLR2E_ENST00000586746.1_Silent_p.A161A|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	161					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GATACTATCGGGCCAGCAGCT	0.667000													8	37					0	0	0.000274275	0	0
ADORA2A	135	broad.mit.edu	37	22	24837156	24837156	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:24837156C>T	ENST00000337539.7	+	3	1397	c.938C>T	c.(937-939)cCt>cTt	p.P313L	KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	313					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAGCAAGAACCTTTCAAGGCA	0.602000													10	24					0	0	0.000673444	0	0
CSMD2	114784	broad.mit.edu	37	1	34006189	34006189	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:34006189G>A	ENST00000373381.4	-	60	9743	c.9567C>T	c.(9565-9567)tcC>tcT	p.S3189S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3165	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGCGGGCAGGGAGAGCTGGT	0.587000													21	34					0	0	0.00188189	0	0
STAT3	6774	broad.mit.edu	37	17	40478182	40478182	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:40478182G>A	ENST00000264657.5	-	15	1629	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	STAT3_ENST00000588969.1_Silent_p.I439I|STAT3_ENST00000389272.3_Silent_p.I341I|STAT3_ENST00000404395.3_Silent_p.I439I|STAT3_ENST00000585517.1_Silent_p.I439I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	439					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCTCAAAGGTGATCAGGTGCA	0.527000									Hyperimmunoglobulin E Recurrent Infection Syndrome				10	59					0	0	0.000978159	0	0
RBBP6	5930	broad.mit.edu	37	16	24567190	24567190	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:24567190C>T	ENST00000319715.4	+	6	918	c.486C>T	c.(484-486)ttC>ttT	p.F162F	RBBP6_ENST00000348022.2_Silent_p.F162F|RBBP6_ENST00000381039.3_Silent_p.F162F	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	162					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.F162F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACACGTGTTTCCGTTGTGGTA	0.358000													16	42					0	0	0.00121646	0	0
MAML2	84441	broad.mit.edu	37	11	95712321	95712321	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:95712321G>A	ENST00000524717.1	-	5	4546	c.3262C>T	c.(3262-3264)Cct>Tct	p.P1088S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1088					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTGAAGGAAAATTGCTG	0.488000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								11	63					0	0	0.000978159	0	0
SRP68	6730	broad.mit.edu	37	17	74068551	74068551	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:74068551G>A	ENST00000307877.2	-	1	183	c.22C>T	c.(22-24)Cca>Tca	p.P8S	SRP68_ENST00000539137.1_Missense_Mutation_p.P8S|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	8					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ccgccgccTGGGACCTGCTTC	0.711000													4	33					0	0	8.12818e-05	0	0
SULF1	23213	broad.mit.edu	37	8	70553060	70553060	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:70553060A>G	ENST00000260128.4	+	22	3286	c.2569A>G	c.(2569-2571)Agc>Ggc	p.S857G	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.S857G|SULF1_ENST00000419716.3_Missense_Mutation_p.S857G|SULF1_ENST00000402687.4_Missense_Mutation_p.S857G	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	857					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGATGGAGGAAGCTATGACCT	0.323000													13	90					0	0	0.00185496	0	0
TCF20	6942	broad.mit.edu	37	22	42608389	42608389	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:42608389G>T	ENST00000359486.3	-	1	3059	c.2923C>A	c.(2923-2925)Ctt>Att	p.L975I	TCF20_ENST00000335626.4_Missense_Mutation_p.L975I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	975					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAGTCTGAAAGGGAATCATGG	0.582000													6	92					0.000157383	0.000987079	0.000157383	1	0
ZNF292	23036	broad.mit.edu	37	6	87970414	87970414	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:87970414C>T	ENST00000369577.3	+	8	7110	c.7067C>T	c.(7066-7068)cCt>cTt	p.P2356L	ZNF292_ENST00000339907.4_Missense_Mutation_p.P2351L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAAATAAGCCTTATTCTCTG	0.353000													6	45					0	0	8.12818e-05	0	0
SP140L	93349	broad.mit.edu	37	2	231222635	231222635	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:231222635C>T	ENST00000243810.6	+	3	223	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F	SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.L75F|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000396563.4_Missense_Mutation_p.L75F|SP140L_ENST00000444636.1_Missense_Mutation_p.L75F			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	75	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ATTTCCATTCCTTGAGGGCCT	0.373000													35	236					0	0	0.00128727	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967396	106967396	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:106967396G>A	ENST00000390622.2	-	0	350																											CTCTAAACTGGAAAAAATCCC	0.562000													11	44					0	0	0.000978159	0	0
VNN2	8875	broad.mit.edu	37	6	133077074	133077074	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:133077074G>A	ENST00000326499.6	-	3	569	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	VNN2_ENST00000525289.1_Missense_Mutation_p.R149C|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.R96C	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	149	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTGGAGTCACGGGAATTACAT	0.438000													10	32					0	0	0.000673444	0	0
ETAA1	54465	broad.mit.edu	37	2	67631561	67631561	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:67631561C>T	ENST00000272342.5	+	5	1877	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	583						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTGGAATGATCCCTCATTTGC	0.363000													17	107					0	0	0.000958276	0	0
HHIP	64399	broad.mit.edu	37	4	145628247	145628247	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:145628247C>T	ENST00000296575.3	+	6	1647	c.992C>T	c.(991-993)cCa>cTa	p.P331L		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	331						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGAAAAAATCCACACCAAGTT	0.383000													6	39					0	0	0.000274275	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	T	C	rs111563615		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:39316570T>C	ENST00000390661.3	-	1	413	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667000													5	49					0	0	0.000602214	0	0
NCAPG	64151	broad.mit.edu	37	4	17814690	17814690	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:17814690C>T	ENST00000251496.2	+	3	642	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	156					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGATAAGATTCCAAATGTGAG	0.378000													15	54					0	0	0.000308642	0	0
LAIR1	3903	broad.mit.edu	37	19	54868216	54868216	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:54868216G>A	ENST00000391743.3	-	5	693	c.413C>T	c.(412-414)tCc>tTc	p.S138F	LAIR1_ENST00000434277.2_Missense_Mutation_p.S155F|LAIR1_ENST00000391742.2_Missense_Mutation_p.S156F|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.S138F|LAIR1_ENST00000313038.6_Missense_Mutation_p.S149F|LAIR1_ENST00000348231.4_Missense_Mutation_p.S139F			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	156						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CAGGCCTTGGGAAGCAGGTGC	0.498000													20	97					0	0	0.00121646	0	0
EYA2	2139	broad.mit.edu	37	20	45630110	45630110	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:45630110C>T	ENST00000327619.5	+	3	527	c.153C>T	c.(151-153)tcC>tcT	p.S51S	EYA2_ENST00000317304.6_Silent_p.S51S|EYA2_ENST00000357410.3_Silent_p.S51S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	51					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGCTCTTCTCCAGGTGAGTGC	0.507000													8	58					0	0	0.000157383	0	0
KCNH6	81033	broad.mit.edu	37	17	61607752	61607752	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:61607752A>T	ENST00000583023.1	+	4	535	c.524A>T	c.(523-525)tAc>tTc	p.Y175F	KCNH6_ENST00000581784.1_Missense_Mutation_p.Y175F|KCNH6_ENST00000580652.1_Missense_Mutation_p.Y175F|KCNH6_ENST00000456941.2_Missense_Mutation_p.Y175F|KCNH6_ENST00000314672.5_Missense_Mutation_p.Y175F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	175					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGGGGCAAGTACAGGACCATC	0.622000													12	78					0	0	0.00136819	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725108	140725108	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140725108C>T	ENST00000253812.6	+	1	1508	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGTCCTCCTTCGTCTCT	0.542000													13	54					0	0	0.000219431	0	0
CSMD1	64478	broad.mit.edu	37	8	2820894	2820894	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:2820894G>A	ENST00000520002.1	-	61	9862	c.9307C>T	c.(9307-9309)Ccg>Tcg	p.P3103S	CSMD1_ENST00000542608.1_Missense_Mutation_p.P2925S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2926S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2926S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3102S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P3103S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3103	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTGCACCGGCGGCGGCTGA	0.537000													54	150					0	0	0.000781405	0	0
RNASET2	8635	broad.mit.edu	37	6	167343198	167343198	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:167343198C>T	ENST00000366855.6	-	10	1210	c.535G>A	c.(535-537)Ggg>Agg	p.G179R	RNASET2_ENST00000508775.1_Missense_Mutation_p.G217R|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.G217R			O00584	RNT2_HUMAN	ribonuclease T2	217					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GGCTGCTCCCCCGGCTCGGTG	0.552000													27	115					0	0	0.001512	0	0
OR2A5	393046	broad.mit.edu	37	7	143747859	143747859	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143747859G>A	ENST00000408906.2	+	1	399	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTACGATCGGTACATGGCT	0.468000													23	90					0	0	0.000720815	0	0
HERC2	8924	broad.mit.edu	37	15	28474839	28474839	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:28474839C>T	ENST00000261609.7	-	32	5072	c.4964G>A	c.(4963-4965)aGa>aAa	p.R1655K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1655					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TAGGCACTTTCTCATTTTTTC	0.393000													45	245					0	0	0.000680045	0	0
ASTN1	460	broad.mit.edu	37	1	176984010	176984010	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:176984010C>T	ENST00000367654.2	-	8	1477	c.1462_splice	c.e8-1	p.G488_splice	ASTN1_ENST00000367657.3_Splice_Site_p.G480_splice|ASTN1_ENST00000361833.2_Splice_Site_p.G480_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Splice_Site_p.G480_splice			O14525	ASTN1_HUMAN	astrotactin 1	488	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGAGGCATTCCCCTTAGAAGC	0.428000													24	140					0	0	0.00047179	0	0
OR51V1	283111	broad.mit.edu	37	11	5221720	5221720	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5221720A>C	ENST00000321255.1	-	1	210	c.211T>G	c.(211-213)Ttc>Gtc	p.F71V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGACAGGAAGTAAAACATA	0.532000													12	65					0	0	0.00185496	0	0
TECTB	6975	broad.mit.edu	37	10	114044409	114044409	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:114044409G>A	ENST00000369422.3	+	2	193	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	65	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGGGGTCCACGAAGGAGGTTA	0.493000													5	17					0	0	0.000602214	0	0
NEB	4703	broad.mit.edu	37	2	152404848	152404848	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:152404848G>A	ENST00000427231.2	-	131	20333	c.20131C>T	c.(20131-20133)Cgg>Tgg	p.R6711W	NEB_ENST00000603639.1_Missense_Mutation_p.R6711W|NEB_ENST00000409198.1_Missense_Mutation_p.R5010W|NEB_ENST00000172853.10_Missense_Mutation_p.R5010W|NEB_ENST00000397345.3_Missense_Mutation_p.R6711W|NEB_ENST00000604864.1_Missense_Mutation_p.R6711W	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5010					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGACTCTCCGGACGTGGACA	0.423000													18	76					0	0	0.000958276	0	0
BEST3	144453	broad.mit.edu	37	12	70049129	70049129	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:70049129G>A	ENST00000330891.5	-	10	1791	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	BEST3_ENST00000553096.1_Missense_Mutation_p.S416F|BEST3_ENST00000488961.1_Missense_Mutation_p.S309F|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	522						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGAGGTAGCGGAATCATGGTG	0.552000													16	98					0	0	0.00121646	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904771	180904771	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:180904771C>T	ENST00000367588.4	+	5	1781	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L	KIAA1614_ENST00000367587.1_Silent_p.L197L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	576										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCTGGGTGGCCTGAGCTCCCC	0.697000													5	19					0	0	0.000602214	0	0
COL20A1	57642	broad.mit.edu	37	20	61937359	61937359	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:61937359C>T	ENST00000422202.1	+	4	532	c.464C>T	c.(463-465)gCc>gTc	p.A155V	COL20A1_ENST00000358894.6_Missense_Mutation_p.A155V|COL20A1_ENST00000326996.6_Missense_Mutation_p.A155V|COL20A1_ENST00000435874.1_Missense_Mutation_p.A155V			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	155					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCCAAGTTGCCTTCACACCA	0.647000													5	32					0	0	0.000157383	0	0
STARD8	9754	broad.mit.edu	37	X	67937585	67937585	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:67937585G>A	ENST00000252336.6	+	5	961	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	STARD8_ENST00000374599.3_Missense_Mutation_p.A277T|STARD8_ENST00000374597.3_Missense_Mutation_p.A197T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	197					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TACTCGGAAGGCCTGGGAGGC	0.612000													8	17					0	0	0.000274275	0	0
STARD8	9754	broad.mit.edu	37	X	67937584	67937584	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:67937584G>A	ENST00000252336.6	+	5	960	c.588G>A	c.(586-588)aaG>aaA	p.K196K	STARD8_ENST00000374599.3_Silent_p.K276K|STARD8_ENST00000374597.3_Silent_p.K196K	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	196					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATACTCGGAAGGCCTGGGAGG	0.617000													8	17					0	0	0.000274275	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949686	44949686	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:44949686G>A	ENST00000291560.2	-	9	1284	c.953C>T	c.(952-954)aCc>aTc	p.T318I	HSF2BP_ENST00000542962.1_Missense_Mutation_p.T243I	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	318					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTGGGCTGCGGTTTGCAGGCG	0.597000													11	48					0	0	0.00136819	0	0
DOCK1	1793	broad.mit.edu	37	10	129209130	129209130	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:129209130G>T	ENST00000280333.6	+	43	4416	c.4307G>T	c.(4306-4308)cGa>cTa	p.R1436L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1436	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAGGTCCAGCGATTTGAATAT	0.413000													5	25					0.000602214	0.0037662	0.000602214	1	0
MTTP	4547	broad.mit.edu	37	4	100530059	100530059	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:100530059G>C	ENST00000457717.1	+	13	1950	c.1694G>C	c.(1693-1695)gGg>gCg	p.G565A	MTTP_ENST00000265517.5_Missense_Mutation_p.G565A|MTTP_ENST00000511045.1_Missense_Mutation_p.G592A|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	565	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTGTCTATTGGGGAGCTTCCC	0.418000													5	78					0	0	0.00116845	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041926	5041926	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:5041926G>A	ENST00000251170.7	+	6	742	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	188						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCAGTCCGTGAGGAGGATGC	0.662000													6	7					0	0	8.12818e-05	0	0
KRBA2	124751	broad.mit.edu	37	17	8273656	8273656	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:8273656G>A	ENST00000396267.1	-	2	860	c.29C>T	c.(28-30)cCa>cTa	p.P10L	KRBA2_ENST00000331336.2_Missense_Mutation_p.P92L|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	92					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AACCCCAGGTGGATCATTTCC	0.388000													14	81					0	0	0.000219431	0	0
TPCN1	53373	broad.mit.edu	37	12	113704081	113704081	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:113704081G>A	ENST00000550785.1	+	5	719	c.550G>A	c.(550-552)Gag>Aag	p.E184K	TPCN1_ENST00000335509.6_Missense_Mutation_p.E112K|TPCN1_ENST00000541517.1_Missense_Mutation_p.E184K|TPCN1_ENST00000392569.4_Missense_Mutation_p.E44K	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	112						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTACCTGATGGAGCTGGCCAC	0.622000													46	216					0	0	0.000781405	0	0
TRO	7216	broad.mit.edu	37	X	54957315	54957315	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:54957315C>T	ENST00000173898.7	+	12	4270	c.4158C>T	c.(4156-4158)ttC>ttT	p.F1386F	TRO_ENST00000420798.2_Silent_p.F917F|TRO_ENST00000375041.2_Silent_p.F989F|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1386	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCAGTGGCTTCAGCGGTGGAC	0.607000													17	24					0	0	0.000958276	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:40359793C>T	ENST00000338305.6	-	3	2801	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000													9	54					0	0	0.000442599	0	0
FBXO32	114907	broad.mit.edu	37	8	124518802	124518802	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:124518802C>T	ENST00000517956.1	-	7	855	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	FBXO32_ENST00000443022.2_Missense_Mutation_p.G129S	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	222										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGAGGCCTTTGAAGGCA	0.632000													23	53					0	0	0.00047179	0	0
GPX6	257202	broad.mit.edu	37	6	28473486	28473486	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:28473486G>A	ENST00000361902.1	-	4	502	c.453C>T	c.(451-453)ttC>ttT	p.F151F	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	151					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GCACCTTCAGGAAAGTAAAGA	0.473000													42	43					0	0	0.000680045	0	0
BDKRB2	624	broad.mit.edu	37	14	96706850	96706850	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:96706850C>T	ENST00000542454.2	+	3	3192	c.104C>T	c.(103-105)cCc>cTc	p.P35L	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P62L|BDKRB2_ENST00000306005.3_Missense_Mutation_p.P62L|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P35L			P30411	BKRB2_HUMAN	bradykinin receptor B2	62					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ATCCAGCCCCCCTTCCTCTGG	0.587000													18	92					0	0	0.00074312	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:43762387C>T	ENST00000244293.7	-	4	997	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000593948.1_Missense_Mutation_p.E311K|PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	404	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000													34	140					0	0	0.00058488	0	0
OR13C4	138804	broad.mit.edu	37	9	107288775	107288775	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:107288775G>A	ENST00000277216.3	-	1	715	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGAGCATGTAGAAAATGCCTT	0.438000													16	88					0	0	0.00152264	0	0
C15orf27	123591	broad.mit.edu	37	15	76430111	76430111	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:76430111C>T	ENST00000388942.3	+	3	378	c.102C>T	c.(100-102)acC>acT	p.T34T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	34						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACGAAGAAACCAAGAGCATTG	0.527000													21	88					0	0	0.00188189	0	0
CEP170P1	645455	broad.mit.edu	37	4	119461450	119461450	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:119461450G>A	ENST00000412784.2	+	0	347					NR_003135.2																						ACACCAGAAGGAAACAACGGT	0.448000													5	34					0	0	0.00116845	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774139	14774139	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:14774139G>A	ENST00000261170.3	-	23	2749	c.2613C>T	c.(2611-2613)atC>atT	p.I871I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	871	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACGCATCACCGATGGTTTCCA	0.443000													23	103					0	0	0.001512	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112003968	112003968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:112003968G>A	ENST00000374557.4	-	16	2048	c.1531C>T	c.(1531-1533)Cga>Tga	p.R511*	EPB41L4B_ENST00000374566.3_Intron	NM_018424.2	NP_060894.2	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	0	His-rich.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTTTATCTCGATACATCATA	0.438000													15	81					0	0	0.000219431	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213403858	213403858	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:213403858A>G	ENST00000366960.3	+	9	1213	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.T343A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.T143A|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.T58A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	355	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGTAATGGACACAAGGACAGA	0.343000													12	68					0	0	0.000219431	0	0
QRFP	347148	broad.mit.edu	37	9	133769068	133769068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:133769068C>T	ENST00000343079.1	-	1	157	c.158G>A	c.(157-159)tGg>tAg	p.W53*		NM_198180.1	NP_937823.1	P83859	OX26_HUMAN	pyroglutamylated RFamide peptide	53					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		AGAGGAACCCCACACGGAGTG	0.652000													9	27					0	0	0.000274275	0	0
PLCB1	23236	broad.mit.edu	37	20	8705394	8705394	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:8705394C>T	ENST00000378641.3	+	16	2148	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	PLCB1_ENST00000378637.2_Missense_Mutation_p.S558L|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.S558L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	558	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTGAAATTTCAAAAAGTAAG	0.378000													6	42					0	0	8.12818e-05	0	0
CD33	945	broad.mit.edu	37	19	51729168	51729168	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:51729168C>T	ENST00000436584.2	+	2	202	c.147C>T	c.(145-147)atC>atT	p.I49I	CD33_ENST00000262262.4_Silent_p.I176I|CD33_ENST00000391796.3_Silent_p.I176I|CD33_ENST00000421133.2_Silent_p.I49I			P20138	CD33_HUMAN	CD33 molecule	176	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CACCCCCGATCTTCTCCTGGT	0.622000													12	43					0	0	0.00185496	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674071	70674071	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:70674071C>T	ENST00000260126.3	-	3	1653	c.947G>A	c.(946-948)gGa>gAa	p.G316E	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G316E|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G316E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	316						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAATAAATATCCCACTGCAGG	0.418000													16	34					0	0	0.000422831	0	0
LAMB3	3914	broad.mit.edu	37	1	209799263	209799263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:209799263C>T	ENST00000391911.1	-	13	2095	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q	LAMB3_ENST00000367030.3_Missense_Mutation_p.R569Q|LAMB3_ENST00000356082.4_Missense_Mutation_p.R569Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	569	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACAGTAGCCTCGCTGGCACTG	0.662000													5	21					0	0	0.000602214	0	0
SEC24C	9632	broad.mit.edu	37	10	75530515	75530515	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:75530515C>T	ENST00000339365.2	+	23	3265	c.3103C>T	c.(3103-3105)Ctc>Ttc	p.L1035F	SEC24C_ENST00000540668.1_Missense_Mutation_p.L283F|SEC24C_ENST00000345254.4_Missense_Mutation_p.L1035F|SEC24C_ENST00000535742.1_Missense_Mutation_p.L283F|SEC24C_ENST00000411652.2_Missense_Mutation_p.L916F	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1035					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGTTCGAGGCCTCATTGATAG	0.458000													14	57					0	0	0.000566183	0	0
ENPP7	339221	broad.mit.edu	37	17	77708919	77708919	+	Silent	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:77708919A>G	ENST00000328313.5	+	3	698	c.477A>G	c.(475-477)aaA>aaG	p.K159K		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	159					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCGGAAAGAAGGCATCG	0.587000													9	58					0	0	0.000442599	0	0
CAPN5	726	broad.mit.edu	37	11	76831942	76831942	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:76831942C>T	ENST00000278559.3	+	10	1663	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	CAPN5_ENST00000456580.2_Missense_Mutation_p.P532S|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.P492S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	492	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CACTGATGTGCCCTCCAACTG	0.622000													28	68					0	0	0.00178596	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647417	38647417	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:38647417C>T	ENST00000494540.1	+	0	288					NR_003086.1																						AGTCATTCTTCCGGGCCTCCA	0.473000													15	49					0	0	0.00121646	0	0
KRT1	3848	broad.mit.edu	37	12	53073598	53073598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:53073598G>A	ENST00000252244.3	-	1	593	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCCTTTCTCGAGACTTCACC	0.498000													19	106					0	0	0.000295444	0	0
C9orf135	138255	broad.mit.edu	37	9	72471547	72471547	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:72471547C>T	ENST00000377197.3	+	3	425	c.338C>T	c.(337-339)gCt>gTt	p.A113V	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.A113V	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	113						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AAGAGCAAGGCTTTATTGAAT	0.353000													11	47					0	0	0.000673444	0	0
GALNTL6	442117	broad.mit.edu	37	4	173232893	173232893	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:173232893C>T	ENST00000506823.1	+	4	1033	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R109C|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	126						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R126C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCAGATATTCGTCATGCTAA	0.373000													25	150					0	0	0.000339439	0	0
NRP2	8828	broad.mit.edu	37	2	206659641	206659641	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:206659641C>T	ENST00000360409.3	+	17	3446	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NRP2_ENST00000357785.5_Silent_p.G880G|NRP2_ENST00000412873.2_Silent_p.G863G|NRP2_ENST00000540841.1_Silent_p.G863G|NRP2_ENST00000540178.1_Silent_p.G880G	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	885					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCTGTGCAGGCCTCCTGCTCT	0.582000													14	51					0	0	0.000566183	0	0
OR4X1	390113	broad.mit.edu	37	11	48285724	48285724	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:48285724C>T	ENST00000320048.1	+	1	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCCTCCATTTCTTTGGTGGCA	0.498000													13	43					0	0	0.00185496	0	0
GALNT8	26290	broad.mit.edu	37	12	4854792	4854792	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:4854792A>G	ENST00000252318.2	+	5	1395	c.1058_splice	c.e5+1	p.K353_splice		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	353	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCCCCAGTGAAGTAAGTCTGA	0.478000													6	30					0	0	8.12818e-05	0	0
WDR31	114987	broad.mit.edu	37	9	116079163	116079163	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:116079163C>T	ENST00000374193.4	-	11	1216	c.970G>A	c.(970-972)Gga>Aga	p.G324R	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Missense_Mutation_p.G199R|WDR31_ENST00000341761.4_Missense_Mutation_p.G323R	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	324										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGTCCTGATCCATCCAGAGAC	0.483000													10	32					0	0	0.000978159	0	0
EBF3	253738	broad.mit.edu	37	10	131640555	131640555	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:131640555C>T	ENST00000368648.3	-	13	1242	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	EBF3_ENST00000355311.5_Silent_p.E399E	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	399					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCAAGATGATCTCCTGCAGCA	0.667000													13	30					0	0	0.00185496	0	0
MEGF8	1954	broad.mit.edu	37	19	42848898	42848898	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:42848898C>T	ENST00000334370.4	+	12	2645	c.2010C>T	c.(2008-2010)tcC>tcT	p.S670S	MEGF8_ENST00000251268.6_Silent_p.S670S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	720						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGTCACGTCCCTGGAGGCCT	0.672000													13	64					0	0	0.00185496	0	0
OR4L1	122742	broad.mit.edu	37	14	20528840	20528840	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:20528840C>T	ENST00000315683.1	+	1	637	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGTTTCATCCTCTTGCTTGT	0.453000													12	116					0	0	0.000219431	0	0
C5orf42	65250	broad.mit.edu	37	5	37169642	37169642	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:37169642G>A	ENST00000274258.7	-	34	6711	c.3124C>T	c.(3124-3126)Cct>Tct	p.P1042S	C5orf42_ENST00000425232.2_Missense_Mutation_p.P2162S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P2162S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2162										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGACATAAAGGAATACTCCCA	0.358000													27	54					0	0	0.00178596	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692134	17692134	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:17692134C>T	ENST00000399080.2	-	3	3440	c.3417G>A	c.(3415-3417)agG>agA	p.R1139R		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1139	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTGTTTAATCCTTGCTTTTC	0.323000													6	33					0	0	8.12818e-05	0	0
ZNF812	729648	broad.mit.edu	37	19	9801609	9801609	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9801609C>T	ENST00000457674.2	-	5	1088	c.570G>A	c.(568-570)gaG>gaA	p.E190E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACAGAATTTCTCTCCAATGT	0.368000													6	15					0	0	0.00116845	0	0
BDKRB2	624	broad.mit.edu	37	14	96706849	96706849	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:96706849C>T	ENST00000542454.2	+	3	3191	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.P62S|BDKRB2_ENST00000306005.3_Missense_Mutation_p.P62S|BDKRB2_ENST00000539359.1_Missense_Mutation_p.P35S			P30411	BKRB2_HUMAN	bradykinin receptor B2	62					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CATCCAGCCCCCCTTCCTCTG	0.587000													19	93					0	0	0.000958276	0	0
COL5A1	1289	broad.mit.edu	37	9	137591825	137591825	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:137591825G>A	ENST00000371817.3	+	3	762	c.348G>A	c.(346-348)ctG>ctA	p.L116L	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	116	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGCCTTCCTGGTCTCCATCT	0.592000													13	69					0	0	0.00136819	0	0
IQUB	154865	broad.mit.edu	37	7	123143007	123143007	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:123143007C>T	ENST00000466202.1	-	5	1434	c.858G>A	c.(856-858)agG>agA	p.R286R	IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Silent_p.R286R|IQUB_ENST00000324698.6_Silent_p.R286R			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	286										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CCTGCGTATCCCTACAAAATA	0.338000													11	72					0	0	0.000219431	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368450	37368450	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:37368450G>A	ENST00000361924.2	+	14	5447	c.5073G>A	c.(5071-5073)ttG>ttA	p.L1691L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.L1713L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1691	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCACATCTTGGAAGAAAAAC	0.358000													32	155					0	0	0.000339439	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231360	29231360	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:29231360C>T	ENST00000441381.1	+	0	79																											GTCTCCGCATCGAGGAAGACT	0.468000													15	90					0	0	0.000219431	0	0
CRMP1	1400	broad.mit.edu	37	4	5837688	5837688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:5837688C>T	ENST00000324989.7	-	11	1665	c.1577G>A	c.(1576-1578)tGg>tAg	p.W526*	CRMP1_ENST00000512574.1_Nonsense_Mutation_p.W410*|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Nonsense_Mutation_p.W412*	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	412					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTCGGGGTCCCAGATGACCAC	0.507000													13	84					0	0	0.00136819	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382325	41382325	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:41382325C>T	ENST00000377801.3	-	2	489	c.415G>A	c.(415-417)Gta>Ata	p.V139I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V139I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	139	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAGAACACTACCTCCTTATGG	0.418000													8	92					0	0	0.000157383	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215322	118215322	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:118215322C>A	ENST00000369230.3	+	5	691	c.545C>A	c.(544-546)cCa>cAa	p.P182Q		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	182					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCAAGGATACCAGGCCTTGGA	0.443000													5	56					0.00116845	0.00727623	0.00116845	1	0
SHROOM4	57477	broad.mit.edu	37	X	50351041	50351041	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:50351041G>A	ENST00000376020.2	-	6	3126	c.3101C>T	c.(3100-3102)tCa>tTa	p.S1034L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.S918L|SHROOM4_ENST00000289292.7_Missense_Mutation_p.S1034L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1034					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGTTTCCTCTGATTTTTTCAA	0.522000													7	7					0	0	0.000157383	0	0
CAMKK2	10645	broad.mit.edu	37	12	121706444	121706444	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:121706444G>A	ENST00000324774.5	-	5	1450	c.622C>T	c.(622-624)Cca>Tca	p.P208S	CAMKK2_ENST00000392474.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P208S|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P208S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P208S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P208S|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P208S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	208	Protein kinase.|RP domain.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACTCACGTGGAAAGCCGGCC	0.557000													45	252					0	0	0.000781405	0	0
PEX1	5189	broad.mit.edu	37	7	92134177	92134177	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:92134177G>A	ENST00000248633.4	-	12	2035	c.1940C>T	c.(1939-1941)gCt>gTt	p.A647V	PEX1_ENST00000541751.1_Missense_Mutation_p.A64V|PEX1_ENST00000438045.1_Missense_Mutation_p.A325V|PEX1_ENST00000428214.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	647			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTCTGAGAAAGCCACCTCTAG	0.458000													20	99					0	0	0.00047179	0	0
SLC35D2	11046	broad.mit.edu	37	9	99084312	99084312	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:99084312G>A	ENST00000253270.7	-	11	944	c.882C>T	c.(880-882)ttC>ttT	p.F294F	SLC35D2_ENST00000375259.4_Silent_p.F206F	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	294						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				TTAACAAAGAGAAAATGTAGT	0.353000													23	113					0	0	0.000878237	0	0
CFB	629	broad.mit.edu	37	6	31912609	31912609	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:31912609G>A	ENST00000556679.1	+	13	1604	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	C2_ENST00000469372.1_Missense_Mutation_p.E424K|C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.E441K|C2_ENST00000452323.2_Missense_Mutation_p.E456K|CFB_ENST00000456570.1_Missense_Mutation_p.E517K|C2_ENST00000442278.2_Missense_Mutation_p.E538K|C2_ENST00000299367.5_Missense_Mutation_p.E670K			P00751	CFAB_HUMAN	complement factor B	690	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGGACCCAGGAGGATGAGAG	0.562000													82	101					0	0	0.000781405	0	0
USP32	84669	broad.mit.edu	37	17	58288737	58288737	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:58288737C>T	ENST00000300896.4	-	20	2512	c.2318_splice	c.e20+1	p.R773_splice	USP32_ENST00000592339.1_Splice_Site_p.R443_splice	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	773					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GAAAGATTACCTGTTGAGTTC	0.398000													5	125					0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179640518	179640518	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179640518C>T	ENST00000589042.1	-	28	6297	c.6073G>A	c.(6073-6075)Gaa>Aaa	p.E2025K	TTN_ENST00000342992.6_Missense_Mutation_p.E2025K|TTN_ENST00000342175.6_Missense_Mutation_p.E1979K|TTN_ENST00000460472.2_Missense_Mutation_p.E1979K|TTN_ENST00000360870.5_Missense_Mutation_p.E2025K|TTN_ENST00000591111.1_Missense_Mutation_p.E2025K|TTN_ENST00000359218.5_Missense_Mutation_p.E1979K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1787							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAGGATTCATCCTTCTTT	0.458000													47	84					0	0	0.000781405	0	0
DLG1	1739	broad.mit.edu	37	3	196831779	196831779	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:196831779G>A	ENST00000346964.2	-	15	1829	c.1640C>T	c.(1639-1641)cCt>cTt	p.P547L	DLG1_ENST00000452595.1_Missense_Mutation_p.P431L|DLG1_ENST00000450955.1_Missense_Mutation_p.P514L|DLG1_ENST00000448528.2_Missense_Mutation_p.P547L|DLG1_ENST00000443183.1_Missense_Mutation_p.P431L|DLG1_ENST00000422288.1_Missense_Mutation_p.P496L|DLG1_ENST00000419354.1_Missense_Mutation_p.P547L|DLG1_ENST00000314062.3_Missense_Mutation_p.P496L|DLG1_ENST00000357674.4_Missense_Mutation_p.P514L|DLG1_ENST00000392382.2_Missense_Mutation_p.P514L	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	547					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTACCTTCAGGTCGATATTG	0.358000													40	148					0	0	0.00195071	0	0
TLR10	81793	broad.mit.edu	37	4	38775819	38775819	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:38775819G>A	ENST00000308973.4	-	4	1998	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	TLR10_ENST00000506111.1_Silent_p.L465L|TLR10_ENST00000508334.1_Silent_p.L465L|TLR10_ENST00000361424.2_Silent_p.L465L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	465					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAGGCCATCAGATGAATAGTC	0.343000													18	69					0	0	0.00074312	0	0
IDUA	3425	broad.mit.edu	37	4	995681	995681	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:995681C>T	ENST00000453894.1	+	5	751	c.663C>T	c.(661-663)gcC>gcT	p.A221A	IDUA_ENST00000247933.4_Intron|IDUA_ENST00000514224.1_Intron			P35475	IDUA_HUMAN	iduronidase, alpha-L-	20					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGCGCCCTGCCCCTCCGTCCG	0.741000													4	6					0	0	0.00024832	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354308	17354308	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:17354308G>A	ENST00000511821.1	+	0	167				FTH1P10_ENST00000401830.3_RNA																							CCACCTCCTTGGTTCTGCAGC	0.473000													34	95					0	0	0.000814825	0	0
APOB	338	broad.mit.edu	37	2	21245739	21245739	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:21245739G>A	ENST00000233242.1	-	18	2907	c.2780C>T	c.(2779-2781)cCt>cTt	p.P927L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	927	Heparin-binding.				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)	CTTTGGGGAAGGAATGATAAA	0.498000													37	219					0	0	0.00148497	0	0
NELL1	4745	broad.mit.edu	37	11	20869159	20869159	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:20869159G>A	ENST00000298925.5	+	5	603	c.450G>A	c.(448-450)agG>agA	p.R150R	NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Silent_p.R122R|NELL1_ENST00000532434.1_Silent_p.R122R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	122	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGGCCTGAGGGATGAGATTC	0.448000													12	30					0	0	0.00185496	0	0
DNAH7	56171	broad.mit.edu	37	2	196722214	196722214	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:196722214G>A	ENST00000312428.6	-	44	8401	c.8301C>T	c.(8299-8301)atC>atT	p.I2767I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2767	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTCTTATGATATTCATAT	0.393000													23	57					0	0	0.000295444	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923085	111923085	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:111923085G>A	ENST00000305815.5	-	17	2404	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R670C	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	718					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CGTAGTATACGAAAAAATTGA	0.264000													7	49					0	0	0.000157383	0	0
OR10H5	284433	broad.mit.edu	37	19	15905071	15905071	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:15905071C>T	ENST00000308940.8	+	1	311	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCACCGAGATCCTCTACACCG	0.622000													11	54					0	0	0.00136819	0	0
CDH17	1015	broad.mit.edu	37	8	95186399	95186399	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:95186399G>A	ENST00000027335.3	-	6	638	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	CDH17_ENST00000450165.2_Missense_Mutation_p.P172S|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	172	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGATCATGGGAAGCTGGATG	0.483000													64	129					0	0	0.000781405	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527072	32527072	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:32527072C>T	ENST00000428783.1	+	0	772																											TCCCATGCGCCAAGTGGAGCC	0.612000													5	30					0	0	0.00116845	0	0
ZBTB41	360023	broad.mit.edu	37	1	197129067	197129067	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:197129067G>A	ENST00000367405.4	-	10	2220	c.2152C>T	c.(2152-2154)Cat>Tat	p.H718Y	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCATCAGAATGAATAACCAGG	0.333000													14	52					0	0	0.000219431	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058761	152058761	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:152058761C>T	ENST00000368806.1	-	3	1461	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	466							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGCCTCTTCTCCTGAGACTGC	0.458000													34	161					0	0	0.00170553	0	0
KIAA1199	57214	broad.mit.edu	37	15	81187419	81187419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:81187419G>A	ENST00000394685.3	+	11	1594	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	KIAA1199_ENST00000356249.5_Missense_Mutation_p.R392K|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R392K			Q8WUJ3	K1199_HUMAN	KIAA1199	392										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GACCGGGGCAGAGCCTGCCGG	0.547000													5	49					0	0	0.000602214	0	0
ALPK2	115701	broad.mit.edu	37	18	56202291	56202291	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:56202291C>T	ENST00000361673.3	-	5	5341	c.5128G>A	c.(5128-5130)Gag>Aag	p.E1710K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1710							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						CTCTTGACCTCCTCTGACCCC	0.567000													11	73					0	0	0.000978159	0	0
GRM6	2916	broad.mit.edu	37	5	178410107	178410107	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:178410107G>A	ENST00000231188.5	-	9	2418	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	GRM6_ENST00000517717.1_Missense_Mutation_p.S747L|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	747					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGACAGATCCGACATGTCGCA	0.642000													20	38					0	0	0.00121646	0	0
CALB1	793	broad.mit.edu	37	8	91094259	91094259	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:91094259C>G	ENST00000265431.3	-	2	332	c.151G>C	c.(151-153)Gga>Cga	p.G51R		NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	51						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCTACCAATCCAGCCTTCTTT	0.453000													11	178					0	0	0.000219431	0	0
EML1	2009	broad.mit.edu	37	14	100405642	100405642	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:100405642C>T	ENST00000262233.6	+	21	2439	c.2300C>T	c.(2299-2301)tCa>tTa	p.S767L	EML1_ENST00000334192.4_Missense_Mutation_p.S786L|EML1_ENST00000327921.9_Missense_Mutation_p.S755L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	767						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CACCTCTTCTCATACCCCTGC	0.537000													7	30					0	0	0.000157383	0	0
SOX1	6656	broad.mit.edu	37	13	112722044	112722044	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:112722044C>T	ENST00000330949.1	+	1	132	c.72C>T	c.(70-72)ggC>ggT	p.G24G		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	24					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ACCTCTCGGGCCCCGCCGGGG	0.781000													6	9					0	0	8.12818e-05	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117551	4117551	+	Missense_Mutation	SNP	A	A	G	rs121434498		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:4117551A>G	ENST00000262948.5	-	2	422	c.169T>C	c.(169-171)Ttt>Ctt	p.F57L	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	57			F -> C (in CFC syndrome).		activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTGAGAAAGGCTTCCAGC	0.597000													14	68					0	0	0.000308642	0	0
HMBOX1	79618	broad.mit.edu	37	8	28902934	28902934	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:28902934C>T	ENST00000397358.3	+	8	1612	c.908C>T	c.(907-909)gCt>gTt	p.A303V	HMBOX1_ENST00000523613.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000558662.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000287701.10_Missense_Mutation_p.A303V|HMBOX1_ENST00000524238.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000355231.5_Missense_Mutation_p.A303V|HMBOX1_ENST00000519047.1_Missense_Mutation_p.A303V|HMBOX1_ENST00000444075.1_Missense_Mutation_p.A303V	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	303					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ATTGCAAACGCTTGCAATGCA	0.453000													38	78					0	0	0.00128727	0	0
LIPE	3991	broad.mit.edu	37	19	42907128	42907128	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:42907128C>T	ENST00000244289.4	-	9	2874	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	866					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AATCCGTGCCCAGTGGGCCCT	0.622000													8	68					0	0	0.000274275	0	0
ACBD6	84320	broad.mit.edu	37	1	180382602	180382602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:180382602C>T	ENST00000367595.3	-	5	1159	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	158						cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						TTTTTGTCTTCTTCCCTAGAA	0.303000													20	54					0	0	0.000295444	0	0
ZNF568	374900	broad.mit.edu	37	19	37440683	37440683	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:37440683C>T	ENST00000415168.1	+	5	812	c.436C>T	c.(436-438)Cca>Tca	p.P146S	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.P210S|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTGGGAAACCATTTTACCA	0.373000													9	109					0	0	0.000274275	0	0
OR10G7	390265	broad.mit.edu	37	11	123909307	123909307	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:123909307C>T	ENST00000330487.5	-	1	410	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCAGTCATCATGTTGGTGT	0.542000													20	72					0	0	0.000295444	0	0
UNC13C	440279	broad.mit.edu	37	15	54590052	54590052	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:54590052G>A	ENST00000545554.1	+	11	4032	c.4032G>A	c.(4030-4032)ttG>ttA	p.L1344L	UNC13C_ENST00000537900.1_Silent_p.L1342L|UNC13C_ENST00000260323.11_Silent_p.L1344L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1344					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCATACGATTGAAAATCAATG	0.333000													6	24					0	0	8.12818e-05	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	58					0	0	0.000602214	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004611	52004611	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:52004611C>T	ENST00000291707.3	-	1	432	c.377G>A	c.(376-378)gGa>gAa	p.G126E		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	126	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTTCATATTTCCTCTCTCTAC	0.473000													16	69					0	0	0.000308642	0	0
RIN2	54453	broad.mit.edu	37	20	19981530	19981530	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:19981530C>T	ENST00000255006.6	+	12	2934	c.2785C>T	c.(2785-2787)Cct>Tct	p.P929S	RIN2_ENST00000440354.2_Missense_Mutation_p.P447S|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	880					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.P880S(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CAAGAACGATCCTTATGGCAT	0.537000													7	46					0	0	0.000157383	0	0
STAB1	23166	broad.mit.edu	37	3	52539133	52539133	+	Missense_Mutation	SNP	C	C	T	rs144229839	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:52539133C>T	ENST00000321725.6	+	13	1568	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	498					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGGCAGGCCCCCTCTGGGAC	0.612000													19	70					0	0	0.000958276	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045927	42045927	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:42045927G>A	ENST00000372584.1	-	3	5556	c.4542C>T	c.(4540-4542)ccC>ccT	p.P1514P	HIVEP3_ENST00000247584.5_Silent_p.P1514P|HIVEP3_ENST00000429157.2_Silent_p.P1514P|HIVEP3_ENST00000372583.1_Silent_p.P1514P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1514					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGAGGGAGGGGAGGAATTT	0.557000													19	32					0	0	0.000295444	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691865	106691865	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:106691865C>T	ENST00000390607.2	-	0	237																											GGACCCAGTTCATGCTATAGC	0.567000													20	75					0	0	0.000375601	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173882230	173882230	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:173882230A>C	ENST00000264111.6	+	21	2190	c.2003A>C	c.(2002-2004)gAa>gCa	p.E668A	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E516A|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E516A|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E449A|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E669A|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E669A|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E525A|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E498A			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	669					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GGCTCTGATGAAGGTGAGAAC	0.458000													20	32					0	0	0.000295444	0	0
ESYT3	83850	broad.mit.edu	37	3	138184246	138184246	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:138184246G>A	ENST00000389567.4	+	10	1338	c.1152G>A	c.(1150-1152)agG>agA	p.R384R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	384	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATACCGACAGGGATGACTTCC	0.597000													25	109					0	0	0.001512	0	0
ASMTL	8623	broad.mit.edu	37	X	1546836	1546836	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:1546836G>A	ENST00000534940.1	-	7	739	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.P214S|ASMTL_ENST00000381317.3_Missense_Mutation_p.P230S|ASMTL_ENST00000416733.2_Missense_Mutation_p.P154S	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	230	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCGCGGCCGGGATGGAGTCG	0.682000													10	34					0	0	0.000673444	0	0
NPY5R	4889	broad.mit.edu	37	4	164272298	164272298	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:164272298G>A	ENST00000515560.1	+	4	2395	c.873G>A	c.(871-873)aaG>aaA	p.K291K	NPY5R_ENST00000506953.1_Silent_p.K291K|NPY5R_ENST00000338566.3_Silent_p.K291K			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	291					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GATATAGCAAGAAGACAGCAT	0.423000													15	84					0	0	0.000219431	0	0
PDE8B	8622	broad.mit.edu	37	5	76645267	76645267	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:76645267G>A	ENST00000264917.5	+	8	945	c.900G>A	c.(898-900)agG>agA	p.R300R	PDE8B_ENST00000342343.4_Silent_p.R280R|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Silent_p.R300R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	300	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTTCGAAAGGATGATGGGCT	0.498000													33	187					0	0	0.00058488	0	0
IGSF10	285313	broad.mit.edu	37	3	151155011	151155011	+	Silent	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:151155011A>G	ENST00000282466.3	-	6	7337	c.7338T>C	c.(7336-7338)agT>agC	p.S2446S	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2446	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGATTCTCCACTGATGCCTT	0.393000													14	84					0	0	0.000422831	0	0
ZNF329	79673	broad.mit.edu	37	19	58640350	58640350	+	Missense_Mutation	SNP	G	G	A	rs147789299		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:58640350G>A	ENST00000598312.1	-	4	754	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZNF329_ENST00000358067.4_Missense_Mutation_p.S174L	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ACCTTCATACGATTTCTTGCC	0.363000													13	46					0	0	0.00185496	0	0
SLC9C1	285335	broad.mit.edu	37	3	111888124	111888124	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:111888124G>A	ENST00000305815.5	-	24	3223	c.2971C>T	c.(2971-2973)Cct>Tct	p.P991S	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P943S	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	991					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTAATGAGAGGAGAGCATTGC	0.338000													10	65					0	0	0.000442599	0	0
NME1	4830	broad.mit.edu	37	17	49237347	49237347	+	Missense_Mutation	SNP	G	G	A	rs140072006		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:49237347G>A	ENST00000511355.1	+	3	219	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	NME1_ENST00000393196.3_Missense_Mutation_p.E45K|NME1_ENST00000013034.3_Missense_Mutation_p.E70K|NME2_ENST00000393193.2_Missense_Mutation_p.E45K|NME2_ENST00000376392.6_Missense_Mutation_p.E45K|NME2_ENST00000555572.1_Missense_Mutation_p.E70K|NME1_ENST00000336097.3_Missense_Mutation_p.E70K|NME1_ENST00000480143.1_Missense_Mutation_p.E70K					NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATAGGCTTCCGAAGATCTTCT	0.468000													7	96					0	0	0.000442599	0	0
ZNF733P	643955	broad.mit.edu	37	7	62753117	62753117	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:62753117C>T	ENST00000331425.6	-	0	318					NR_003952.1																						TCCACATTTTCCATATGTTCT	0.378000													15	112					0	0	0.00188189	0	0
FNBP4	23360	broad.mit.edu	37	11	47754103	47754103	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:47754103G>A	ENST00000263773.5	-	11	1818	c.1806C>T	c.(1804-1806)tcC>tcT	p.S602S	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	602	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCCAGTGGCAGGACCAGCCTT	0.468000													32	168					0	0	0.000692331	0	0
GNB1L	54584	broad.mit.edu	37	22	19808831	19808831	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:19808831G>A	ENST00000329517.6	-	3	284	c.48C>T	c.(46-48)ctC>ctT	p.L16L	GNB1L_ENST00000405009.1_Silent_p.L16L|GNB1L_ENST00000403325.1_Silent_p.L16L|GNB1L_ENST00000460402.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	16					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GGGTGCCTCGGAGGACAAACT	0.677000													27	54					0	0	0.000339439	0	0
OR10J5	127385	broad.mit.edu	37	1	159505130	159505130	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159505130G>A	ENST00000334857.2	-	1	712	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTGAAGGATGGAAGAGATGAC	0.443000													10	39					0	0	0.000673444	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:82544610G>A	ENST00000423517.2	-	7	13029	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_ENST00000437081.1_Missense_Mutation_p.S951F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCCTGGAGGAAATGCCACC	0.388000													6	44					0	0	0.000157383	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111926204	111926204	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:111926204C>T	ENST00000375741.2	+	11	1430	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	ARHGEF7_ENST00000478679.1_Missense_Mutation_p.P138S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.P344S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.P216S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.P301S|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.P216S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.P291S|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.P216S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.P216S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.P373S|ARHGEF7_ENST00000483189.1_3'UTR	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	394	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGCCAGCAGCCCTGGGATTCT	0.557000													16	46					0	0	0.000958276	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153554	133153554	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:133153554C>T	ENST00000388996.4	-	10	1707	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R	KCNQ3_ENST00000519445.1_Silent_p.R429R|KCNQ3_ENST00000521134.1_Silent_p.R309R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	429					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAAGGCGAACCCGATCCAAGA	0.418000													33	54					0	0	0.00058488	0	0
DSEL	92126	broad.mit.edu	37	18	65178797	65178797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:65178797G>A	ENST00000310045.7	-	2	4552	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1017						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAACTTCCTGAAAAAAATGA	0.408000													23	105					0	0	0.000586117	0	0
P4HTM	54681	broad.mit.edu	37	3	49043169	49043169	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:49043169C>T	ENST00000343546.4	+	7	1584	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	P4HTM_ENST00000383729.4_Intron	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	343	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTGGGAGCATCCACAACTGGG	0.577000													11	40					0	0	0.000673444	0	0
IL36RN	26525	broad.mit.edu	37	2	113820196	113820196	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:113820196C>T	ENST00000393200.2	+	5	571	c.410C>T	c.(409-411)cCc>cTc	p.P137L	IL36RN_ENST00000346807.3_Missense_Mutation_p.P137L	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	137						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACCCAGCTTCCCGAGAATGGT	0.627000													7	33					0	0	0.000274275	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380219	6380219	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:6380219G>A	ENST00000335585.5	-	3	272	c.249C>T	c.(247-249)ctC>ctT	p.L83L	PPP2R2C_ENST00000507294.1_Silent_p.L76L|PPP2R2C_ENST00000515571.1_Silent_p.L66L|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Silent_p.L76L|PPP2R2C_ENST00000382599.4_Silent_p.L83L	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	83					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CCAGGCTCTTGAGATAGTCAA	0.572000													12	67					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179412371	179412371	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179412371G>A	ENST00000589042.1	-	339	94206	c.93982C>T	c.(93982-93984)Ctg>Ttg	p.L31328L	TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L28760L|TTN_ENST00000342175.6_Silent_p.L22455L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L22263L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.L29687L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.L22388L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29687	Fibronectin type-III 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCCATGACAGGACACACGAT	0.468000													15	105					0	0	0.000422831	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147009297	147009297	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:147009297G>C	ENST00000265272.5	-	15	2355	c.1888C>G	c.(1888-1890)Cct>Gct	p.P630A	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.P588A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.P609A	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	630						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGATCAGGGATGTTCACA	0.383000													4	59					0	0	0.00024832	0	0
FMO3	2328	broad.mit.edu	37	1	171085366	171085366	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:171085366C>T	ENST00000367755.4	+	8	1313	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	FMO3_ENST00000392085.2_Missense_Mutation_p.S401F|FMO3_ENST00000538429.1_Missense_Mutation_p.S338F|FMO3_ENST00000542847.1_Missense_Mutation_p.S381F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	401				PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284).	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTTTGCCTTCTATGGAAGAC	0.353000													15	101					0	0	0.00074312	0	0
GAREM	64762	broad.mit.edu	37	18	29850274	29850274	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:29850274G>A	ENST00000399218.4	-	5	1694	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S	GAREM_ENST00000269209.6_Missense_Mutation_p.P547S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GGGATGGAGGGACTGGTGGAC	0.572000													5	21					0	0	0.000602214	0	0
DSTYK	25778	broad.mit.edu	37	1	205156602	205156602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:205156602C>T	ENST00000367162.3	-	2	628	c.598G>A	c.(598-600)Gat>Aat	p.D200N	DSTYK_ENST00000367161.3_Missense_Mutation_p.D200N|DSTYK_ENST00000367160.4_Missense_Mutation_p.D200N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	200						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGAGCAGCATCCTCATTGTTC	0.478000													8	25					0	0	0.000274275	0	0
DAK	26007	broad.mit.edu	37	11	61111710	61111710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:61111710G>A	ENST00000394900.3	+	13	1434	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	402	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGGTGACGGCGACTGTGGC	0.622000													16	36					0	0	0.000566183	0	0
LOC440040	440040	broad.mit.edu	37	11	49831850	49831850	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:49831850G>A	ENST00000527477.1	+	0	2075																											ATCCCATAAAGCCCTCTTCCT	0.373000													13	93					0	0	0.00136819	0	0
ST18	9705	broad.mit.edu	37	8	53044549	53044549	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:53044549G>A	ENST00000276480.7	-	22	3318	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	879						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTATTTACATGGCCCAGCCCA	0.488000													10	58					0	0	0.000978159	0	0
RIC3	79608	broad.mit.edu	37	11	8132663	8132663	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:8132663G>A	ENST00000396677.2	-	3	205	c.206C>T	c.(205-207)cCa>cTa	p.P69L	RIC3_ENST00000539720.1_Missense_Mutation_p.P182L|RIC3_ENST00000335425.7_Missense_Mutation_p.P49L|RIC3_ENST00000343202.4_Missense_Mutation_p.P230L|RIC3_ENST00000425599.2_Missense_Mutation_p.P150L|RIC3_ENST00000309737.6_Missense_Mutation_p.P231L|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	231						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GTCATAAATTGGGTAAGTCTC	0.373000													8	58					0	0	0.000157383	0	0
FAT2	2196	broad.mit.edu	37	5	150885198	150885198	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:150885198C>T	ENST00000261800.5	-	23	12990	c.12978G>A	c.(12976-12978)cgG>cgA	p.R4326R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4326					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGGGCACCCGGGGCTGGC	0.632000													9	27					0	0	0.000673444	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228576	142228576	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:142228576C>T	ENST00000519067.1	-	4	1313	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	SLC45A4_ENST00000024061.3_Missense_Mutation_p.G337D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G330D|SLC45A4_ENST00000517878.1_Missense_Mutation_p.G388D			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	388					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGTGGGGGAGCCACTTCCGTT	0.637000													27	50					0	0	0.00127121	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142919	31142919	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:31142919C>T	ENST00000304166.4	+	14	1404	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S428F|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.S351F|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S400F	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	372					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTGCCTTCTCCCCAGAGAAT	0.562000													23	71					0	0	0.000586117	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746136	140746136	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140746136C>T	ENST00000518069.1	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.R747W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGGGGTTCGGGCTTTCCT	0.627000													25	65					0	0	0.000586117	0	0
SETD1A	9739	broad.mit.edu	37	16	30976366	30976366	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:30976366C>T	ENST00000262519.8	+	7	1989	c.1303C>T	c.(1303-1305)Ccg>Tcg	p.P435S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	435	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCTCCACCCCCGGAGCCTCC	0.701000													5	42					0	0	0.00116845	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457763	45457763	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:45457763G>A	ENST00000548424.1	+	0	448																											TTCACCAACAGCCTGGTACAT	0.453000													17	45					0	0	0.000958276	0	0
PLS3	5358	broad.mit.edu	37	X	114879411	114879411	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:114879411T>A	ENST00000420625.2	+	11	1388	c.1254T>A	c.(1252-1254)caT>caA	p.H418Q	PLS3_ENST00000543070.1_Missense_Mutation_p.H12Q|PLS3_ENST00000539310.1_Missense_Mutation_p.H373Q|PLS3_ENST00000355899.3_Missense_Mutation_p.H418Q|PLS3_ENST00000289290.3_Missense_Mutation_p.H382Q|PLS3_ENST00000537301.1_Missense_Mutation_p.H405Q	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	418	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACGTAAACCATCTCTATGCGT	0.348000													8	40					0	0	0.000157383	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33689530	33689530	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:33689530G>A	ENST00000321505.4	+	20	5560	c.5380G>A	c.(5380-5382)Gag>Aag	p.E1794K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1800K|RP4-541C22.5_ENST00000534431.1_RNA					KIAA1549-like																		CCCCAGCCTGGAGCAGGCCCC	0.667000													6	21					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9062585	9062585	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9062585C>T	ENST00000397910.4	-	3	25064	c.24861G>A	c.(24859-24861)gaG>gaA	p.E8287E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8289	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGAAATCCTCTACTAATG	0.522000													9	38					0	0	0.000673444	0	0
ZG16B	124220	broad.mit.edu	37	16	2882097	2882097	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:2882097G>A	ENST00000382280.3	+	4	643	c.564G>A	c.(562-564)gaG>gaA	p.E188E	ZG16B_ENST00000572863.1_Silent_p.E158E	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	188						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						ATCCACTAGAGGAGCCGACCA	0.562000													12	90					0	0	0.000978159	0	0
PLCL2	23228	broad.mit.edu	37	3	17109538	17109538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:17109538G>A	ENST00000418129.2	+	5	3272	c.2807G>A	c.(2806-2808)tGg>tAg	p.W936*	PLCL2_ENST00000432376.1_Nonsense_Mutation_p.W936*|PLCL2_ENST00000396755.2_Nonsense_Mutation_p.W936*	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1062					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGCTTTACCTGGAATATTACC	0.403000													15	72					0	0	0.000958276	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:13900349C>T	ENST00000265104.4	-	15	2329	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome				12	59					0	0	0.00136819	0	0
TNN	63923	broad.mit.edu	37	1	175097807	175097807	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:175097807C>T	ENST00000239462.4	+	15	3368	c.3255C>T	c.(3253-3255)acC>acT	p.T1085T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1085	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCTGTACACCATCTACCTGC	0.597000													15	52					0	0	0.000566183	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918713	21918713	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:21918713C>T	ENST00000240662.2	-	3	1564	c.1219G>A	c.(1219-1221)Gta>Ata	p.V407I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	407						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	ACCTTTGGTACCATGAGGGAA	0.408000													12	72					0	0	0.000219431	0	0
OPTC	26254	broad.mit.edu	37	1	203472079	203472079	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:203472079A>G	ENST00000367222.2	+	6	886	c.770A>G	c.(769-771)aAc>aGc	p.N257S		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	257						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTCAGACAACCTGCTGGAT	0.572000													11	53					0	0	0.00185496	0	0
CSH2	1443	broad.mit.edu	37	17	61950618	61950618	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:61950618G>A	ENST00000336844.5	-	2	243	c.92C>T	c.(91-93)cCg>cTg	p.P31L	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.P31L|CSH2_ENST00000345366.7_Missense_Mutation_p.P31L	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	31					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCTGGATAACGGAACGGTTTG	0.602000													29	124					0	0	0.00106085	0	0
DLX4	1748	broad.mit.edu	37	17	48051150	48051150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:48051150G>A	ENST00000240306.3	+	3	861	c.566G>A	c.(565-567)gGg>gAg	p.G189E	DLX4_ENST00000411890.2_Missense_Mutation_p.G117E	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	189					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GACTTCCCTGGGAGGACCTTC	0.562000													17	60					0	0	0.000422831	0	0
RAPH1	65059	broad.mit.edu	37	2	204305977	204305977	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:204305977G>C	ENST00000319170.5	-	14	2235	c.1936C>G	c.(1936-1938)Cct>Gct	p.P646A	RAPH1_ENST00000374493.3_Missense_Mutation_p.P698A|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	646					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						agtgggggaggagggggtggt	0.602000													3	16					0	0	0.000602214	0	0
DZIP1L	199221	broad.mit.edu	37	3	137787164	137787164	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:137787164T>C	ENST00000327532.2	-	13	2023	c.1661A>G	c.(1660-1662)aAg>aGg	p.K554R	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	554						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGTCCTGGTCTTTGGCTGGGC	0.587000											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	284					0	0	0.000781405	0	0
AXDND1	126859	broad.mit.edu	37	1	179497515	179497515	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:179497515T>G	ENST00000367618.3	+	23	3051	c.2664T>G	c.(2662-2664)gaT>gaG	p.D888E		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	888	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTGGAGAAGATGAAAATGTTC	0.403000													4	37					0	0	0.00116845	0	0
CHST1	8534	broad.mit.edu	37	11	45672376	45672376	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:45672376G>A	ENST00000308064.2	-	4	768	c.98C>T	c.(97-99)aCc>aTc	p.T33I		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	33					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCCGGGGCAGGTGTGAAAGGA	0.647000													16	80					0	0	0.000566183	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:7981739G>A	ENST00000328600.2	-	2	1581	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000													23	96					0	0	0.000720815	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537045	65537045	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:65537045C>T	ENST00000310193.3	-	2	347	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	58					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.V58V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGTTCAGGACCACTCCAAGAT	0.383000													44	129					0	0	0.000781405	0	0
LGI3	203190	broad.mit.edu	37	8	22009377	22009377	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:22009377G>A	ENST00000306317.2	-	6	920	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	LGI3_ENST00000424267.2_Silent_p.L187L	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	211	LRRCT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGCAGCGGCAGGTCCTGCACC	0.627000													9	64					0	0	0.000442599	0	0
VAV1	7409	broad.mit.edu	37	19	6854016	6854016	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:6854016C>T	ENST00000304076.2	+	25	2419	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D	VAV1_ENST00000599806.1_Silent_p.D742D|VAV1_ENST00000602142.1_Silent_p.D797D|VAV1_ENST00000596764.1_Silent_p.D765D|VAV1_ENST00000539284.1_Silent_p.D700D	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	797					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGCCCGAGACCGATCAGAGC	0.552000													10	60					0	0	0.00136819	0	0
GSAP	54103	broad.mit.edu	37	7	76984542	76984542	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:76984542G>A	ENST00000257626.7	-	16	1404	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GGGCTTCCAGGAACTGCGCAC	0.458000													8	42					0	0	0.000442599	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884125	143884125	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143884125G>A	ENST00000378115.2	-	2	1481	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.P451L	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	451										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTCTAGCAAGGGAGACAGAGC	0.527000													5	26					0	0	0.000157383	0	0
OR10T2	128360	broad.mit.edu	37	1	158369215	158369215	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:158369215G>A	ENST00000334438.1	-	1	41	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AACCCACCAGGATGAACTGTG	0.438000													6	39					0	0	0.000274275	0	0
CUBN	8029	broad.mit.edu	37	10	17087008	17087008	+	Missense_Mutation	SNP	C	C	A	rs45588636		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:17087008C>A	ENST00000377833.4	-	25	3735	c.3670G>T	c.(3670-3672)Gct>Tct	p.A1224S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1224	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATACATACAGCCAGGTAATCT	0.428000													8	62					6.42651e-13	4.07136e-12	0.000978159	1	0
OGFRL1	79627	broad.mit.edu	37	6	72011392	72011392	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:72011392C>T	ENST00000370435.4	+	7	1130	c.996C>T	c.(994-996)ctC>ctT	p.L332L	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587253.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	332						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CTTCCCCTCTCGCCTCCAGTC	0.463000													16	38					0	0	0.000566183	0	0
KRBA2	124751	broad.mit.edu	37	17	8273657	8273657	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:8273657G>A	ENST00000396267.1	-	2	859	c.28C>T	c.(28-30)Cca>Tca	p.P10S	KRBA2_ENST00000331336.2_Missense_Mutation_p.P92S|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	92					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						ACCCCAGGTGGATCATTTCCA	0.388000													14	81					0	0	0.000219431	0	0
DZIP1L	199221	broad.mit.edu	37	3	137787163	137787163	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:137787163C>T	ENST00000327532.2	-	13	2024	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K	DZIP1L_ENST00000488595.1_5'UTR	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	554						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGTCCTGGTCTTTGGCTGGG	0.582000											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	289					0	0	0.000781405	0	0
HTR6	3362	broad.mit.edu	37	1	19992783	19992783	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:19992783G>A	ENST00000289753.1	+	1	1004	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	179					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCCTGGCCAGTGCCGCCTGC	0.687000													23	42					0	0	0.00047179	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393605	49393605	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:49393605G>A	ENST00000374201.3	-	18	2652	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R752C|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R759C	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.R784C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCAAAACCACGATGTGGGTCA	0.502000													20	52					0	0	0.00047179	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144346	5144346	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:5144346G>A	ENST00000380554.3	+	6	1276	c.624G>A	c.(622-624)tcG>tcA	p.S208S	AKR1C3_ENST00000439082.2_Silent_p.S89S|AKR1C3_ENST00000605149.1_Silent_p.S185S	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	208					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.S208S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCTGCAAGTCGAAAGATATTG	0.373000													14	60					0	0	0.000422831	0	0
GNG4	2786	broad.mit.edu	37	1	235715522	235715522	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:235715522C>T	ENST00000391854.2	-	4	568	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	GNG4_ENST00000366597.1_Missense_Mutation_p.A39T|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000450593.1_Missense_Mutation_p.A39T|GNG4_ENST00000366598.4_Missense_Mutation_p.A39T	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	39					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			AGGAGGTCCGCAGCTGCCTGG	0.562000													7	42					0	0	0.000157383	0	0
ELK4	2005	broad.mit.edu	37	1	205585768	205585768	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:205585768G>A	ENST00000357992.4	-	5	1541	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CAGTACAGAAGGAAACTGAGA	0.443000			T	SLC45A3	prostate								8	28					0	0	0.000157383	0	0
TELO2	9894	broad.mit.edu	37	16	1552363	1552363	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:1552363C>T	ENST00000262319.6	+	13	1890	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	537						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCTGCGGGCCCTTGAGGGCC	0.667000													6	11					0	0	0.000157383	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775475	77775475	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:77775475C>T	ENST00000521891.2	+	11	9973	c.9525C>T	c.(9523-9525)tcC>tcT	p.S3175S	ZFHX4_ENST00000455469.2_Silent_p.S3130S|ZFHX4_ENST00000050961.6_Silent_p.S3126S|ZFHX4_ENST00000518282.1_Silent_p.S3149S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ctccttcatcctcTCTGTCAG	0.507000										HNSCC(33;0.089)			3	4					0	0	6.4e-05	0	0
IL36RN	26525	broad.mit.edu	37	2	113820197	113820197	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:113820197C>T	ENST00000393200.2	+	5	572	c.411C>T	c.(409-411)ccC>ccT	p.P137P	IL36RN_ENST00000346807.3_Silent_p.P137P	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	137						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCCAGCTTCCCGAGAATGGTG	0.627000													6	33					0	0	0.000157383	0	0
ZNF71	58491	broad.mit.edu	37	19	57132753	57132753	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:57132753C>T	ENST00000328070.6	+	3	332	c.98C>T	c.(97-99)cCt>cTt	p.P33L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	33						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCAGGGGTCCTGGCTCAGAA	0.587000													7	27					0	0	8.12818e-05	0	0
CCR4	1233	broad.mit.edu	37	3	32995815	32995815	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:32995815C>T	ENST00000330953.5	+	2	1069	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	301					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.P301T(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTGCCTTAATCCCATCATCTA	0.478000													9	60					0	0	0.000673444	0	0
AOAH	313	broad.mit.edu	37	7	36657927	36657927	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:36657927G>A	ENST00000431169.1	-	10	1027	c.727C>T	c.(727-729)Cca>Tca	p.P243S	AOAH_ENST00000258749.5_Missense_Mutation_p.P243S|AOAH_ENST00000535891.1_Missense_Mutation_p.P211S	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	243					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTCTCATATGGAACTCCATCT	0.323000													13	64					0	0	0.000422831	0	0
PDE7B	27115	broad.mit.edu	37	6	136429884	136429884	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:136429884G>A	ENST00000308191.6	+	3	401	c.98G>A	c.(97-99)aGg>aAg	p.R33K	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	33					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	ATACGACTAAGGGGTCAGACG	0.453000													18	61					0	0	0.00188189	0	0
RDH8	50700	broad.mit.edu	37	19	10124157	10124157	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:10124157C>T	ENST00000591589.1	+	1	233	c.44C>T	c.(43-45)tCc>tTc	p.S15F	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GGTCACGAGTCCAGGGAGGGG	0.612000													7	38					0	0	0.000274275	0	0
ABCA5	23461	broad.mit.edu	37	17	67298924	67298924	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:67298924G>A	ENST00000392676.3	-	8	1118	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	ABCA5_ENST00000392677.2_Missense_Mutation_p.P352S|ABCA5_ENST00000588877.1_Missense_Mutation_p.P352S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	352					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AACGATTTGGGAAAACTTTCT	0.323000													7	73					0	0	0.000274275	0	0
SEMA3E	9723	broad.mit.edu	37	7	83025989	83025989	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:83025989C>T	ENST00000307792.3	-	12	1890	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E415K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	475	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.E475*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATTACTTCTTCCATTGATTCC	0.289000													5	38					0	0	0.00116845	0	0
CNTN4	152330	broad.mit.edu	37	3	2928779	2928779	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:2928779G>A	ENST00000397461.1	+	9	1195	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	CNTN4_ENST00000358480.3_Missense_Mutation_p.A52T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A271T|CNTN4_ENST00000427331.1_Missense_Mutation_p.A271T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	271	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCAAGGAAAGCCAGAAGACA	0.393000													6	23					0	0	0.00116845	0	0
PCDH15	65217	broad.mit.edu	37	10	55600205	55600205	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:55600205C>T	ENST00000373965.2	-	30	4273	c.3879G>A	c.(3877-3879)gtG>gtA	p.V1293V	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.V1264V|PCDH15_ENST00000395432.2_Silent_p.V1249V|PCDH15_ENST00000320301.6_Silent_p.V1286V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.V1215V|PCDH15_ENST00000361849.3_Silent_p.V1286V|PCDH15_ENST00000409834.1_Silent_p.V897V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Silent_p.V1291V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Silent_p.V1286V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1286V|PCDH15_ENST00000395445.1_Silent_p.V1293V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1286					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAATGGACTCCACTACGACCT	0.463000										HNSCC(58;0.16)			8	41					0	0	0.000673444	0	0
COL4A1	1282	broad.mit.edu	37	13	110850885	110850885	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:110850885C>T	ENST00000375820.4	-	21	1335	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G405E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	405	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCACTTGGTCCTGGCAGAGA	0.592000													14	50					0	0	0.000566183	0	0
SLC29A2	3177	broad.mit.edu	37	11	66138781	66138781	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:66138781C>T	ENST00000357440.2	-	2	273	c.45G>A	c.(43-45)ggG>ggA	p.G15G	SLC29A2_ENST00000546034.1_Silent_p.G15G|SLC29A2_ENST00000544554.1_Silent_p.G15G|SLC29A2_ENST00000311161.7_Silent_p.G15G	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	15					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						AGAAGCTGATCCCGACCAGGT	0.697000													14	30					0	0	0.00074312	0	0
OTOP1	133060	broad.mit.edu	37	4	4199349	4199349	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:4199349G>A	ENST00000296358.4	-	5	1236	c.1212C>T	c.(1210-1212)atC>atT	p.I404I		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	404					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCCAGGAGATAAGCCAGG	0.577000													11	46					0	0	0.00136819	0	0
SNX11	29916	broad.mit.edu	37	17	46196339	46196339	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:46196339C>T	ENST00000393405.2	+	7	684	c.330C>T	c.(328-330)gtC>gtT	p.V110V	SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000439357.2_Silent_p.V49V|SNX11_ENST00000580219.1_Silent_p.V102V|SNX11_ENST00000582104.1_Silent_p.V102V|SNX11_ENST00000359238.2_Silent_p.V110V|SNX11_ENST00000578861.1_3'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	110	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TTCCCAGGGTCCTGCAGAGTG	0.542000													16	78					0	0	0.000566183	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336619	30336619	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:30336619C>T	ENST00000375377.1	-	2	224	c.123G>A	c.(121-123)caG>caA	p.Q41Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	41										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTGCAGGCCCTGGCCTGCTC	0.632000													7	39					0	0	0.000157383	0	0
OR4X2	119764	broad.mit.edu	37	11	48267519	48267519	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:48267519G>A	ENST00000302329.3	+	1	912	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAATGAGGAAGGCCATGAAGA	0.443000													14	93					0	0	0.000422831	0	0
PDS5B	23047	broad.mit.edu	37	13	33270999	33270999	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:33270999C>T	ENST00000315596.10	+	15	1746	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	520					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGACAGATGCCAGTGTCAAGG	0.264000													35	113					0	0	0.000437636	0	0
C11orf82	220042	broad.mit.edu	37	11	82641291	82641291	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:82641291G>A	ENST00000533655.1	+	5	580	c.368G>A	c.(367-369)gGa>gAa	p.G123E	C11orf82_ENST00000430323.2_Missense_Mutation_p.G123E|C11orf82_ENST00000525361.1_Missense_Mutation_p.G123E|C11orf82_ENST00000329143.3_Intron|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000524921.1_Intron|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525388.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	123					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGCTTTGTTGGACAAAGCTTT	0.303000													7	53					0	0	0.000442599	0	0
GBP4	115361	broad.mit.edu	37	1	89658754	89658754	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:89658754C>A	ENST00000355754.6	-	5	600	c.503G>T	c.(502-504)aGg>aTg	p.R168M		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	168						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GGATTTTGCCCTGATTAGCTC	0.463000													13	74					6.72482e-11	4.24807e-10	0.000308642	1	0
EP400	57634	broad.mit.edu	37	12	132490709	132490709	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:132490709C>T	ENST00000333577.4	+	15	3205	c.3096C>T	c.(3094-3096)atC>atT	p.I1032I	EP400_ENST00000389562.2_Silent_p.I995I|EP400_ENST00000332482.4_Silent_p.I959I|EP400_ENST00000330386.6_Silent_p.I996I|EP400_ENST00000389561.2_Silent_p.I996I			Q96L91	EP400_HUMAN	E1A binding protein p400	1032	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGTTCTCATCGACTCGCTTT	0.512000													7	35					0	0	0.000157383	0	0
CASP7	840	broad.mit.edu	37	10	115485222	115485222	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:115485222A>G	ENST00000369321.2	+	6	897	c.577A>G	c.(577-579)Aag>Gag	p.K193E	CASP7_ENST00000369331.4_Intron|CASP7_ENST00000452490.2_Missense_Mutation_p.K135E|CASP7_ENST00000345633.4_Missense_Mutation_p.K160E|CASP7_ENST00000369318.3_Missense_Mutation_p.K160E|CASP7_ENST00000369315.1_Missense_Mutation_p.K160E	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	160					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CACACCAATAAAGGATTTGAC	0.423000													7	50					0	0	0.000157383	0	0
LOC101927755	101927755	broad.mit.edu	37	17	58053397	58053397	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:58053397C>T	ENST00000586209.1	+	0	158																											GTTTAAGCTTCCTGATTAGTT	0.388000													13	90					0	0	0.000566183	0	0
JMJD1C	221037	broad.mit.edu	37	10	65140161	65140161	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:65140161C>T	ENST00000399262.2	-	2	468	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	JMJD1C_ENST00000399251.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	84					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGTGGTATTCCACCAAGAAA	0.393000													10	64					0	0	0.000673444	0	0
TOMM70A	9868	broad.mit.edu	37	3	100086908	100086908	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:100086908C>A	ENST00000284320.5	-	11	2101	c.1653G>T	c.(1651-1653)atG>atT	p.M551I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	551					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CAATAGTTCCCATGGTTTCAT	0.343000													10	50					3.07112e-06	1.93168e-05	0.000978159	1	0
UVSSA	57654	broad.mit.edu	37	4	1343498	1343498	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:1343498C>T	ENST00000389851.4	+	3	732	c.285C>T	c.(283-285)ccC>ccT	p.P95P	UVSSA_ENST00000507531.1_Silent_p.P95P|UVSSA_ENST00000511216.1_Silent_p.P95P	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	95																	GCACAGACCCCGCACAGCCTC	0.627000													5	28					0	0	8.12818e-05	0	0
CLRN2	645104	broad.mit.edu	37	4	17524602	17524602	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:17524602G>A	ENST00000511148.2	+	2	471	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	123						integral to membrane		p.M140I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTCTTAACATGATCCAGGTCC	0.552000													8	42					0	0	0.000274275	0	0
USP40	55230	broad.mit.edu	37	2	234386140	234386140	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:234386140G>A	ENST00000251722.6	-	32	3723	c.3606C>T	c.(3604-3606)gcC>gcT	p.A1202A	USP40_ENST00000427112.2_Silent_p.A1202A|USP40_ENST00000450966.1_Silent_p.A1214A			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1202					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GCTCATGGAGGGCTTCTTGGC	0.562000													6	25					0	0	8.12818e-05	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:40675132G>A	ENST00000416151.2	+	1	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000249776.8_Silent_p.R32R	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CTAGCTACCGGAAGTTTCTAT	0.577000													13	45					0	0	0.00185496	0	0
ABCC9	10060	broad.mit.edu	37	12	22005125	22005125	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:22005125C>T	ENST00000261200.4	-	22	2674	c.2675G>A	c.(2674-2676)aGa>aAa	p.R892K	ABCC9_ENST00000261201.4_Missense_Mutation_p.R892K|ABCC9_ENST00000345162.2_Missense_Mutation_p.R856K|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	892	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTTCCTTCTCTTAGGACACT	0.368000													5	41					0	0	0.000602214	0	0
CRP	1401	broad.mit.edu	37	1	159683778	159683778	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159683778G>A	ENST00000255030.5	-	2	315	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CRP_ENST00000437342.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	71	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGGCATACGAGAAAATACT	0.448000													16	53					0	0	0.000422831	0	0
SPAG17	200162	broad.mit.edu	37	1	118567963	118567963	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:118567963A>C	ENST00000336338.5	-	27	3872	c.3807T>G	c.(3805-3807)taT>taG	p.Y1269*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1269						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATAGAACTCATAGTGCTTCA	0.463000													25	49					0	0	0.000586117	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731971	96731971	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:96731971C>T	ENST00000260682.6	+	6	942	c.930C>T	c.(928-930)ctC>ctT	p.L310L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	310					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GATATGCTCTCCTTCTCCTGC	0.433000													14	108					0	0	0.000219431	0	0
WDR33	55339	broad.mit.edu	37	2	128477301	128477301	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:128477301C>T	ENST00000322313.4	-	16	2456	c.2298G>A	c.(2296-2298)ggG>ggA	p.G766G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	766	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GACCTTGGATCCCTTGAGACC	0.617000													6	36					0	0	8.12818e-05	0	0
IGHG4	3503	broad.mit.edu	37	14	106091525	106091525	+	RNA	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:106091525G>A	ENST00000390543.2	-	0	368																											GTTTTGGGGGGAACAGGAAGA	0.617000													9	46					0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13714522	13714522	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:13714522G>A	ENST00000265104.4	-	75	13221	c.13117C>T	c.(13117-13119)Ccc>Tcc	p.P4373S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4373					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTCAAAGGGGACATAGTCT	0.537000									Kartagener syndrome				11	88					0	0	0.00136819	0	0
STC1	6781	broad.mit.edu	37	8	23708886	23708886	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:23708886C>T	ENST00000290271.2	-	3	703	c.420G>A	c.(418-420)cgG>cgA	p.R140R	STC1_ENST00000524323.1_Silent_p.R71R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	140					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTTCAGGGTTCCGCTTGGCGA	0.527000													43	117					0	0	0.000781405	0	0
CD300E	342510	broad.mit.edu	37	17	72608888	72608888	+	Silent	SNP	G	G	A	rs145226937		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:72608888G>A	ENST00000392619.1	-	4	638	c.603C>T	c.(601-603)ttC>ttT	p.F201F	CD300E_ENST00000426295.2_Silent_p.F215F|CD300E_ENST00000328630.3_Silent_p.F174F	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	174						integral to membrane|plasma membrane	receptor activity	p.F174F(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACGAGCAGGAAGTGAGGGC	0.612000													11	91					0	0	0.00185496	0	0
SPATA25	128497	broad.mit.edu	37	20	44515166	44515166	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:44515166G>A	ENST00000372519.3	-	2	718	c.674C>T	c.(673-675)tCc>tTc	p.S225F		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	225						integral to membrane											CTACAAGCAGGAGCCAGGAGG	0.592000													21	137					0	0	0.00047179	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572250	140572250	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140572250G>A	ENST00000239446.4	+	1	309	c.125G>A	c.(124-126)gGa>gAa	p.G42E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		42	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGAAAGGATCCTTTGTG	0.493000													36	56					0	0	0.000437636	0	0
STK36	27148	broad.mit.edu	37	2	219558012	219558012	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:219558012G>A	ENST00000295709.3	+	17	2372	c.2093G>A	c.(2092-2094)aGg>aAg	p.R698K	STK36_ENST00000440309.1_Missense_Mutation_p.R698K|STK36_ENST00000392106.2_Missense_Mutation_p.R698K|STK36_ENST00000392105.3_Missense_Mutation_p.R698K	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	698					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCCAGCTCAGGCCATCCCTC	0.483000													7	46					0	0	8.12818e-05	0	0
ELFN2	114794	broad.mit.edu	37	22	37770744	37770744	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:37770744G>A	ENST00000402918.1	-	3	1616	c.831C>T	c.(829-831)ccC>ccT	p.P277P	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.P277P	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	277						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGATCTCGTCGGGGTTGAAGC	0.692000													16	33					0	0	0.000308642	0	0
TSC2	7249	broad.mit.edu	37	16	2105449	2105449	+	Silent	SNP	C	C	T	rs137854207		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:2105449C>T	ENST00000219476.3	+	6	1158	c.528C>T	c.(526-528)ttC>ttT	p.F176F	TSC2_ENST00000568454.1_Silent_p.F187F|TSC2_ENST00000439673.2_Silent_p.F139F|TSC2_ENST00000350773.4_Silent_p.F176F|TSC2_ENST00000382538.6_Silent_p.F127F|TSC2_ENST00000401874.2_Silent_p.F176F|TSC2_ENST00000353929.4_Silent_p.F176F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	176	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTCGGAATTCCTTCTGGTGC	0.502000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				48	122					0	0	0.000781405	0	0
ALPK2	115701	broad.mit.edu	37	18	56203815	56203815	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:56203815C>T	ENST00000361673.3	-	5	3817	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1202							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						CTGTCTTCTTCCCCAGCAGTT	0.557000													22	77					0	0	0.000295444	0	0
ZP3	7784	broad.mit.edu	37	7	76062930	76062930	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:76062930G>C	ENST00000416245.1	+	3	1244	c.151G>C	c.(151-153)Gcc>Ccc	p.A51P	ZP3_ENST00000394857.3_Missense_Mutation_p.A227P|ZP3_ENST00000336517.4_Missense_Mutation_p.A176P			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	227	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGACCAGAATGCCTCCCCTTA	0.577000													10	65					0	0	0.00136819	0	0
TLR2	7097	broad.mit.edu	37	4	154625875	154625875	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:154625875G>A	ENST00000260010.6	+	1	3224	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	606					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CCTGCTCACGGGGGTCCTGTG	0.577000													8	21					0	0	0.000274275	0	0
QSOX1	5768	broad.mit.edu	37	1	180158704	180158704	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:180158704C>T	ENST00000367602.3	+	9	1109	c.1035C>T	c.(1033-1035)ccC>ccT	p.P345P	QSOX1_ENST00000367600.5_Silent_p.P345P			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	345					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGGCCGGCCCTTAGTCCAGA	0.502000													15	93					0	0	0.00121646	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594893	55594893	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:55594893C>T	ENST00000586329.1	+	10	1486	c.1308C>T	c.(1306-1308)acC>acT	p.T436T	EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000588359.1_Silent_p.T108T|EPS8L1_ENST00000201647.6_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000245618.5_Intron			Q8TE68	ES8L1_HUMAN	EPS8-like 1	452						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGCAGGTGACCCAAGCGACAC	0.706000													4	11					0	0	0.00116845	0	0
TDRD1	56165	broad.mit.edu	37	10	115985825	115985825	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:115985825C>T	ENST00000251864.2	+	22	3178	c.3025C>T	c.(3025-3027)Cgt>Tgt	p.R1009C	TDRD1_ENST00000422662.1_Missense_Mutation_p.R613C|TDRD1_ENST00000369281.2_Missense_Mutation_p.R895C|TDRD1_ENST00000369280.1_Missense_Mutation_p.R1009C|TDRD1_ENST00000369282.1_Missense_Mutation_p.R1009C	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1009	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTTTGGTATCGTGCAGTTGT	0.403000													12	69					0	0	0.000422831	0	0
RTTN	25914	broad.mit.edu	37	18	67836153	67836153	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:67836153T>A	ENST00000255674.6	-	12	1913	c.1627A>T	c.(1627-1629)Act>Tct	p.T543S	RTTN_ENST00000437017.1_Missense_Mutation_p.T543S|RTTN_ENST00000454359.1_Missense_Mutation_p.T543S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	543							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCCTCTGCAGTTCGTTTATAA	0.348000													23	101					0	0	0.00047179	0	0
BCMO1	53630	broad.mit.edu	37	16	81303860	81303860	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:81303860G>A	ENST00000258168.2	+	7	1401	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	BCMO1_ENST00000425577.2_Missense_Mutation_p.E245K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	314					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAACGCCTACGAAGAGGACGG	0.522000													14	65					0	0	0.00185496	0	0
CUBN	8029	broad.mit.edu	37	10	16911830	16911830	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:16911830G>A	ENST00000377833.4	-	59	9324	c.9259C>T	c.(9259-9261)Ccc>Tcc	p.P3087S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3087	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGGAGGGAACCACATCA	0.438000													6	35					0	0	0.00116845	0	0
AFM	173	broad.mit.edu	37	4	74364883	74364883	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:74364883G>A	ENST00000226355.3	+	11	1435	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	448	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGAACTGGTGTCTCTTGG	0.453000													8	50					0	0	0.000274275	0	0
LIFR	3977	broad.mit.edu	37	5	38502883	38502883	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:38502883C>T	ENST00000263409.4	-	11	1618	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.G486R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	486	Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTTCTACTCCTTTGATTGTG	0.284000			T	PLAG1	salivary adenoma								11	31					0	0	0.000673444	0	0
FN1	2335	broad.mit.edu	37	2	216263996	216263996	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:216263996G>A	ENST00000354785.4	-	21	3701	c.3332C>T	c.(3331-3333)cCa>cTa	p.P1111L	FN1_ENST00000359671.1_Missense_Mutation_p.P1111L|FN1_ENST00000446046.1_Missense_Mutation_p.P1111L|FN1_ENST00000432072.2_Missense_Mutation_p.P1111L|FN1_ENST00000443816.1_Missense_Mutation_p.P1111L|FN1_ENST00000346544.3_Missense_Mutation_p.P1111L|FN1_ENST00000421182.1_Missense_Mutation_p.P1111L|FN1_ENST00000336916.4_Missense_Mutation_p.P1111L|FN1_ENST00000323926.6_Missense_Mutation_p.P1111L|FN1_ENST00000357009.2_Missense_Mutation_p.P1111L|FN1_ENST00000356005.4_Missense_Mutation_p.P1111L|FN1_ENST00000357867.4_Missense_Mutation_p.P1111L|FN1_ENST00000345488.5_Missense_Mutation_p.P1111L			P02751	FINC_HUMAN	fibronectin 1	1111	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAATTCTTGGAGCAGGCGT	0.498000													27	72					0	0	0.00127121	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396833	57396833	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:57396833G>A	ENST00000300101.2	-	2	1954	c.1869C>T	c.(1867-1869)caC>caT	p.H623H		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGATCCGCCGGTGGTAGTTGA	0.552000													20	50					0	0	0.000586117	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958049	57958049	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:57958049C>T	ENST00000311591.3	+	1	144	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTCTCTTCCTCATATTTTTGA	0.488000													17	56					0	0	0.000958276	0	0
ZNF658	26149	broad.mit.edu	37	9	40772826	40772826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:40772826G>A	ENST00000602553.1	-	5	2743	c.2449C>T	c.(2449-2451)Caa>Taa	p.Q817*	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.Q817*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAATTCTTTGATGCACTATG	0.423000													15	48					0	0	0.00121646	0	0
GHR	2690	broad.mit.edu	37	5	42629201	42629201	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:42629201G>A	ENST00000230882.4	+	3	322	c.132G>A	c.(130-132)aaG>aaA	p.K44K	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Intron	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	44					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGGCCTAAAGACAAGTAAGA	0.383000													5	56					0	0	8.12818e-05	0	0
USP39	10713	broad.mit.edu	37	2	85868235	85868235	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:85868235C>T	ENST00000323701.6	+	10	1431	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	USP39_ENST00000409766.3_Missense_Mutation_p.P474L|USP39_ENST00000409025.1_Missense_Mutation_p.P474L|USP39_ENST00000409470.1_Missense_Mutation_p.P474L|USP39_ENST00000450066.2_Missense_Mutation_p.P371L|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	474					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTCAATTTCCCTATTACGTAA	0.368000													19	44					0	0	0.00152264	0	0
MPP7	143098	broad.mit.edu	37	10	28420539	28420539	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:28420539C>T	ENST00000337532.5	-	7	673	c.397G>A	c.(397-399)Gag>Aag	p.E133K	MPP7_ENST00000375719.3_Missense_Mutation_p.E133K|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_Missense_Mutation_p.E8K|MPP7_ENST00000375732.1_Missense_Mutation_p.E133K|MPP7_ENST00000540098.1_Missense_Mutation_p.E133K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	133					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GAGTCTTCCTCATCGTCAATA	0.418000													13	65					0	0	0.00136819	0	0
PDZD2	23037	broad.mit.edu	37	5	32091217	32091217	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:32091217A>G	ENST00000438447.1	+	20	8051	c.7663A>G	c.(7663-7665)Agt>Ggt	p.S2555G	PDZD2_ENST00000282493.3_Missense_Mutation_p.S2555G			O15018	PDZD2_HUMAN	PDZ domain containing 2	2555					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAGACACCCAGTTCAGCCAG	0.537000													9	37					0	0	0.000442599	0	0
OXGR1	27199	broad.mit.edu	37	13	97639586	97639586	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:97639586G>A	ENST00000298440.1	-	4	671	c.428C>T	c.(427-429)tCc>tTc	p.S143F	OXGR1_ENST00000543457.1_Missense_Mutation_p.S143F	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	143						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTTGTGAATGGAAAAGCAGCT	0.468000													10	28					0	0	0.000442599	0	0
COPG1	22820	broad.mit.edu	37	3	128971793	128971793	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:128971793C>T	ENST00000314797.6	+	5	422	c.318C>T	c.(316-318)acC>acT	p.T106T		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	106					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TCATTGTCACCAGCAGGCAAG	0.493000													7	45					0	0	0.000274275	0	0
CCDC66	285331	broad.mit.edu	37	3	56649275	56649275	+	Silent	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:56649275T>C	ENST00000394672.3	+	12	1756	c.1686T>C	c.(1684-1686)acT>acC	p.T562T	CCDC66_ENST00000436465.2_Silent_p.T562T|CCDC66_ENST00000326595.7_Silent_p.T528T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	562										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GACATGACACTTCTAGACTGA	0.353000													7	42					0	0	0.000274275	0	0
RGS7	6000	broad.mit.edu	37	1	240969442	240969442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:240969442G>A	ENST00000366565.1	-	15	1648	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	RGS7_ENST00000446183.2_Nonsense_Mutation_p.Q339*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.Q423*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.Q423*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.Q423*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.Q423*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.Q370*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.Q370*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.Q397*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	423	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ACACCCACCTGAGCATCTTCA	0.453000													14	53					0	0	0.000219431	0	0
PTH2R	5746	broad.mit.edu	37	2	209358265	209358265	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:209358265G>A	ENST00000272847.2	+	13	1747	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	512						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTTCCACGAGGAGACCAAGGA	0.522000													7	43					0	0	8.12818e-05	0	0
GPR137	56834	broad.mit.edu	37	11	64055268	64055268	+	Silent	SNP	C	C	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:64055268C>A	ENST00000539851.1	+	4	950	c.483C>A	c.(481-483)tcC>tcA	p.S161S	GPR137_ENST00000377702.4_Silent_p.S161S|GPR137_ENST00000411458.1_Silent_p.S219S|GPR137_ENST00000438980.2_Silent_p.S161S|GPR137_ENST00000313074.3_Silent_p.S161S	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	161						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTGTGCTCTCCCATCGGCGCC	0.667000													21	40					5.35356e-11	3.38672e-10	0.000375601	1	0
CNGB3	54714	broad.mit.edu	37	8	87680392	87680392	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:87680392C>T	ENST00000320005.5	-	5	545	c.498G>A	c.(496-498)aaG>aaA	p.K166K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	166					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CAGCCGTGGGCTTTGCTTCAT	0.368000													10	74					0	0	0.00136819	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168026	1168026	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:1168026C>G	ENST00000379198.2	+	1	398	c.368C>G	c.(367-369)cCc>cGc	p.P123R		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	123					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTGCTGCCCGCGCTGCGC	0.736000													8	14					0	0	0.000274275	0	0
ARPP19	10776	broad.mit.edu	37	15	52849387	52849387	+	Silent	SNP	T	T	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:52849387T>C	ENST00000566423.1	-	3	211	c.78A>G	c.(76-78)aaA>aaG	p.K26K	ARPP19_ENST00000568196.1_Silent_p.K10K|ARPP19_ENST00000561650.1_Silent_p.K10K|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000569281.2_Silent_p.K26K|ARPP19_ENST00000249822.4_Silent_p.K26K|ARPP19_ENST00000567669.1_Silent_p.K26K|ARPP19_ENST00000561971.1_Silent_p.K45K|ARPP19_ENST00000563277.1_Silent_p.K10K|ARPP19_ENST00000564163.1_Silent_p.K45K|ARPP19_ENST00000563566.1_Silent_p.K10K			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	26					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CTTCTTCTGCTTTCTCTGGAC	0.328000													11	45					0	0	0.000978159	0	0
DYNAP	284254	broad.mit.edu	37	18	52265162	52265162	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:52265162G>A	ENST00000321600.1	+	3	465	c.419G>A	c.(418-420)gGa>gAa	p.G140E	DYNAP_ENST00000585973.1_Missense_Mutation_p.G88E	NM_173629.1	NP_775900.1			dynactin associated protein									p.G140E(1)									AATAACAAAGGATCGGCCAAT	0.438000													15	53					0	0	0.000422831	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686141	125686141	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:125686141C>T	ENST00000371126.1	-	1	693	c.451G>A	c.(451-453)Ggc>Agc	p.G151S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	151										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCATGGATGCCGCAGCCCTGT	0.637000													4	17					0	0	0.00116845	0	0
SSTR1	6751	broad.mit.edu	37	14	38678861	38678861	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:38678861G>A	ENST00000267377.2	+	3	884	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	89					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGCCAAGATGAAGACGGCCA	0.547000													10	57					0	0	0.00136819	0	0
WDR11	55717	broad.mit.edu	37	10	122665478	122665478	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:122665478C>T	ENST00000263461.6	+	27	3628	c.3382C>T	c.(3382-3384)Ctc>Ttc	p.L1128F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1128						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATCAAAGGCTCTCCTGGTTCT	0.522000													13	61					0	0	0.000219431	0	0
DLG1	1739	broad.mit.edu	37	3	196817861	196817861	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:196817861C>T	ENST00000346964.2	-	16	1871	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	DLG1_ENST00000452595.1_Missense_Mutation_p.R445Q|DLG1_ENST00000450955.1_Missense_Mutation_p.R528Q|DLG1_ENST00000448528.2_Missense_Mutation_p.R561Q|DLG1_ENST00000443183.1_Missense_Mutation_p.R445Q|DLG1_ENST00000422288.1_Missense_Mutation_p.R510Q|DLG1_ENST00000419354.1_Missense_Mutation_p.R561Q|DLG1_ENST00000314062.3_Missense_Mutation_p.R510Q|DLG1_ENST00000357674.4_Missense_Mutation_p.R528Q|DLG1_ENST00000392382.2_Missense_Mutation_p.R528Q	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	561					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CATCTGCTCCCGTAAATCATG	0.318000													15	68					0	0	0.000566183	0	0
ITM2B	9445	broad.mit.edu	37	13	48830397	48830397	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:48830397C>T	ENST00000378565.5	+	3	534	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	111					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CCCAGCTGCTCTCTACCAGAC	0.393000													19	52					0	0	0.000958276	0	0
OR10J5	127385	broad.mit.edu	37	1	159505084	159505084	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159505084G>A	ENST00000334857.2	-	1	758	c.714C>T	c.(712-714)gcC>gcT	p.A238A		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACACAGGTGGCAAAGGTCT	0.478000													6	43					0	0	0.00116845	0	0
DCBLD1	285761	broad.mit.edu	37	6	117858354	117858354	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:117858354C>T	ENST00000338728.5	+	7	846	c.726C>T	c.(724-726)tcC>tcT	p.S242S	DCBLD1_ENST00000368503.4_Silent_p.S242S|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.S242S			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	242	LCCL.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCAGTGGTTCCCTGTCAGACA	0.418000													18	72					0	0	0.00121646	0	0
PATE2	399967	broad.mit.edu	37	11	125648651	125648651	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:125648651G>A	ENST00000358524.3	-	1	63	c.18C>T	c.(16-18)ctC>ctT	p.L6L	PATE2_ENST00000436890.2_Silent_p.L6L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	6						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTGTGCCCAGGAGAAAGAGAA	0.517000													12	17					0	0	0.00185496	0	0
DHX16	8449	broad.mit.edu	37	6	30633507	30633507	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:30633507G>A	ENST00000376442.3	-	5	865	c.670C>T	c.(670-672)Cct>Tct	p.P224S		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	224					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CGCAGCTCAGGGACCTGAGTT	0.557000													32	38					0	0	0.00111076	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	RNA	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:11420926C>T	ENST00000381842.3	-	0	294				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.627000													27	164					0	0	0.000491102	0	0
EVC	2121	broad.mit.edu	37	4	5743514	5743514	+	Silent	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:5743514C>T	ENST00000382674.2	+	6	958	c.774C>T	c.(772-774)taC>taT	p.Y258Y	EVC_ENST00000264956.6_Silent_p.Y258Y|EVC_ENST00000509451.1_Silent_p.Y258Y			P57679	EVC_HUMAN	Ellis van Creveld syndrome	258			Y -> H (in dbSNP:rs6414624).		muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGAACTATACCAGAAGATCC	0.284000													7	68					0	0	0.000274275	0	0
OR5K4	403278	broad.mit.edu	37	3	98072717	98072717	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:98072717C>T	ENST00000354924.2	+	1	20	c.20C>T	c.(19-21)tCc>tTc	p.S7F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAAAATCACTCCTTAGCAGCT	0.403000													6	28					0	0	0.00116845	0	0
SETX	23064	broad.mit.edu	37	9	135224778	135224778	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:135224778G>T	ENST00000372169.2	-	3	220	c.38C>A	c.(37-39)tCc>tAc	p.S13Y	SETX_ENST00000393220.1_Missense_Mutation_p.S13Y|SETX_ENST00000224140.5_Missense_Mutation_p.S13Y			Q7Z333	SETX_HUMAN	senataxin	13					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTCAATGGTGGAAGCACCACC	0.488000													12	51					1.3612e-06	8.57402e-06	0.000308642	1	0
ABCA2	20	broad.mit.edu	37	9	139908777	139908777	+	Silent	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:139908777G>A	ENST00000265662.5	-	27	4230	c.4083C>T	c.(4081-4083)gcC>gcT	p.A1361A	ABCA2_ENST00000371605.3_Silent_p.A1360A|ABCA2_ENST00000341511.6_Silent_p.A1361A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1360					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGAGCACCGGGCCAGATTGC	0.677000													3	7					0	0	0.000602214	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968578	4968578	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrY:4968578C>T	ENST00000333703.4	+	5	3439	c.2926C>T	c.(2926-2928)Ccc>Tcc	p.P976S	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.P987S|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.P987S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	987					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCTGAAACTCCCCTGAATTT	0.488000													28	50					0	0	0.00178596	0	0
STRA6	64220	broad.mit.edu	37	15	74487809	74487809	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:74487809C>T	ENST00000323940.5	-	7	676	c.430_splice	c.e7-1	p.G144_splice	STRA6_ENST00000423167.2_Splice_Site_p.G135_splice|STRA6_ENST00000416286.3_Splice_Site_p.G136_splice|STRA6_ENST00000535552.1_Splice_Site_p.G181_splice|STRA6_ENST00000574278.1_Splice_Site_p.G159_splice|STRA6_ENST00000449139.2_Splice_Site_p.G144_splice|STRA6_ENST00000432245.2_3'UTR|STRA6_ENST00000395105.4_Splice_Site_p.G144_splice|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Splice_Site_p.G183_splice	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	144					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CTTCCAGGCCCCTGGAAGGTG	0.617000													7	29					0	0	0.000157383	0	0
RTN2	6253	broad.mit.edu	37	19	45998062	45998062	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:45998062G>A	ENST00000245923.4	-	3	516	c.281C>T	c.(280-282)tCg>tTg	p.S94L	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.S94L	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	94						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCGTGGTTCCGAGACTGAGCG	0.677000													11	33					0	0	0.00136819	0	0
CDH9	1007	broad.mit.edu	37	5	26881414	26881414	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:26881414G>A	ENST00000231021.4	-	12	2373	c.2201C>T	c.(2200-2202)tCg>tTg	p.S734L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGTTGCCAGCGAATCATATGG	0.423000													28	50					0	0	0.00127121	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059329	152059329	+	Missense_Mutation	SNP	C	C	T	rs114173361	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:152059329C>T	ENST00000368806.1	-	3	893	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	277							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTAACTTCCTGATCTTCA	0.433000													32	128					0	0	0.00178596	0	0
EP400	57634	broad.mit.edu	37	12	132490707	132490707	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:132490707A>T	ENST00000333577.4	+	15	3203	c.3094A>T	c.(3094-3096)Atc>Ttc	p.I1032F	EP400_ENST00000389562.2_Missense_Mutation_p.I995F|EP400_ENST00000332482.4_Missense_Mutation_p.I959F|EP400_ENST00000330386.6_Missense_Mutation_p.I996F|EP400_ENST00000389561.2_Missense_Mutation_p.I996F			Q96L91	EP400_HUMAN	E1A binding protein p400	1032	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTGGTTCTCATCGACTCGCT	0.507000													8	35					0	0	0.000274275	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39176055	39176055	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:39176055G>A	ENST00000297668.6	-	7	1035	c.962C>T	c.(961-963)tCg>tTg	p.S321L	CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S321L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S321L|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S233L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S321L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	321	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	p.S321L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAATGCCCGCGATCTTCCGGG	0.378000													13	53					0	0	0.000422831	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882461	228882461	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:228882461G>T	ENST00000392056.3	-	7	3155	c.3109C>A	c.(3109-3111)Ctt>Att	p.L1037I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1037I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1037						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCAAAAAGATTGACAGAA	0.502000													17	99					2.4624e-09	1.55326e-08	0.00121646	1	0
INTU	27152	broad.mit.edu	37	4	128584647	128584647	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:128584647G>A	ENST00000335251.5	+	4	983	c.880G>A	c.(880-882)Gag>Aag	p.E294K	INTU_ENST00000296461.5_Missense_Mutation_p.E294K	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	294										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGGGAGAAGAGGTTGAAGG	0.433000													14	69					0	0	0.000308642	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655435	31655435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:31655435delG	ENST00000375842.4	-	18	1859	c.873delC	c.(871-873)gafs	p.D291fs	ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Frame_Shift_Del_p.D477fs|ABHD16A_ENST00000395952.3_Frame_Shift_Del_p.D510fs|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	510						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCCAGGGGAAGTCGGGCCCGT	0.592													114	182	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													2	4	---	---	---	---					
TRAV9-1	28678	broad.mit.edu	37	14	22279845	22279846	+	RNA	INS	-	-	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:22279845_22279846insT	ENST00000390431.3	+	0	46																											TAATTTGTTTATTTTTTTTTCA	0.406													4	8	---	---	---	---					
