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
POLR3B	55703	broad.mit.edu	37	12	106772092	106772092	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:106772092G>C	ENST00000228347.4	+	8	766	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.E124Q	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	182					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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.E182*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTATCCAAGAGCAGCTGTC	0.418000													25	122					0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62373565	62373565	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:62373565T>C	ENST00000266077.2	+	5	714	c.662T>C	c.(661-663)aTc>aCc	p.I221T	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	221						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGAGACACATCCGCCTGGTG	0.706000													2	1					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46202837	46202837	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:46202837A>T	ENST00000252934.5	+	10	1438		c.e10-1		ATXN10_ENST00000381061.4_Splice_Site|ATXN10_ENST00000402380.3_Splice_Site	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10						cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTTTCTCTCTAGGTAAATGAG	0.383000													6	273					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344565	69344565	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:69344565A>T	ENST00000305363.4	+	9	1031		c.e9-1			NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTTTCTTTTAGGTTACAGTC	0.353000													12	247					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637000													7	1170					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467916	50467916	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:50467916C>T	ENST00000331340.3	+	8	1306	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	IKZF1_ENST00000343574.5_Missense_Mutation_p.S297L|IKZF1_ENST00000438033.1_Missense_Mutation_p.S297L|IKZF1_ENST00000346667.4_Missense_Mutation_p.S154L|IKZF1_ENST00000439701.1_Missense_Mutation_p.S342L|IKZF1_ENST00000349824.4_Missense_Mutation_p.S241L|IKZF1_ENST00000357364.4_Missense_Mutation_p.S297L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.S342L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	384					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)|p.S384*(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TTGGTGCCCTCGGAGCGCGAG	0.667000			"""D,T"""	BCL6	"""ALL, DLBCL"""								11	43					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57140052	57140052	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:57140052A>T	ENST00000371244.4	+	2	160		c.e2-1			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TCTTTTCTTTAGTTGGAGAAC	0.313000													5	91					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964318	109964318	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:109964318G>T	ENST00000309415.6	+	2	762	c.762G>T	c.(760-762)ttG>ttT	p.L254F		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	254							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCAGCCCTTGCCACACGCCC	0.577000													6	79					1.5842e-08	1.65964e-08	1	1	0
GPR112	139378	broad.mit.edu	37	X	135405198	135405198	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:135405198G>A	ENST00000394143.1	+	5	623	c.332G>A	c.(331-333)cGt>cAt	p.R111H	GPR112_ENST00000287534.4_Missense_Mutation_p.R48H|GPR112_ENST00000370652.1_Missense_Mutation_p.R111H|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	111					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTATCCGTCACCACCTG	0.433000													8	876					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9437667	9437667	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:9437667A>T	ENST00000310430.6	+	2	699		c.e2-1		TNKS_ENST00000520408.1_Splice_Site|TNKS_ENST00000518281.1_Splice_Site	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase						mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTTTCTTTTTAGGTTTTGGAA	0.353000													8	325					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				11	566					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99801731	99801731	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:99801731C>T	ENST00000426455.1	+	26	3195	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	STAG3_ENST00000394018.2_Silent_p.L872L|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.L930L|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	930					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCTGCTGCTGAGCCTCAA	0.498000													88	226					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115102194	115102194	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:115102194C>T	ENST00000542447.2	-	4	569	c.441G>A	c.(439-441)ctG>ctA	p.L147L	CADM1_ENST00000452722.2_Silent_p.L147L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Silent_p.L147L|CADM1_ENST00000331581.6_Silent_p.L147L|CADM1_ENST00000536727.1_Silent_p.L147L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	147	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TATCGATCATCAGATTACGTG	0.418000													94	211					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71591418	71591418	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:71591418T>A	ENST00000261413.5	-	4	262		c.e4-2		MRPS27_ENST00000457646.4_Splice_Site|MRPS27_ENST00000522095.1_Splice_Site|MRPS27_ENST00000513900.1_Splice_Site|MRPS27_ENST00000515404.1_Splice_Site	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27							mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GTCTATAAGCTAAAAGACAGA	0.358000													4	109					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978175	45978175	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:45978175G>A	ENST00000391620.1	-	1	468	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	142	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GCCGGCTGGCGGCTAGACTGC	0.662000													5	404					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24745112	24745112	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:24745112C>A	ENST00000379068.3	+	14	1498	c.1455C>A	c.(1453-1455)acC>acA	p.T485T	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379059.3_Silent_p.T479T			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	479					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TATTTGGGACCAACACATCTA	0.358000													5	80					0.307466	0.309119	1	1	0
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11							cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348000													4	58					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12278312	12278312	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:12278312C>T	ENST00000261349.4	-	21	4443	c.4367G>A	c.(4366-4368)aGt>aAt	p.S1456N	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.S1411N|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1456					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGGGGGTCCACTGCTTCCCCC	0.433000													21	197					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	326										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423000													7	534					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333000													7	78					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179994847	179994847	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:179994847A>T	ENST00000393356.1	+	11	1296		c.e11-1		CNOT6_ENST00000261951.4_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTGTTTTAGATTTACTTT	0.403000													5	127					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6029494	6029494	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:6029494C>G	ENST00000265849.7	-	10	1186	c.1081G>C	c.(1081-1083)Gga>Cga	p.G361R	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G361R|PMS2_ENST00000441476.2_Missense_Mutation_p.G255R|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	361					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAAACATTCCTATCAAAGAG	0.373000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	113					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31204790	31204790	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:31204790A>T	ENST00000458591.2	+	25	2132		c.e25-1		SCFD1_ENST00000421551.3_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site|SCFD1_ENST00000541123.1_Splice_Site|RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000544052.2_Splice_Site	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GTTTTGTTTTAGTTGTCACAA	0.264000													4	36					0	0	1	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197388	1197388	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:1197388T>A	ENST00000401903.1	-	3	315		c.e3-2		ZFAND2A_ENST00000316495.3_Splice_Site			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A							cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAAGAAAATCTAAAAAACAAA	0.343000													5	192					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338000													7	98					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161026233	161026233	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:161026233T>C	ENST00000447678.1	-	19	2910	c.2790A>G	c.(2788-2790)ccA>ccG	p.P930P	LPA_ENST00000316300.5_Silent_p.P930P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3438	Kringle 9.				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)	TTTGCTCAGTTGGTGCTGAAA	0.438000													6	748					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119203321	119203321	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:119203321C>T	ENST00000296498.3	-	13	2680	c.2398G>A	c.(2398-2400)Ggt>Agt	p.G800S		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	800	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GTAAACCGACCCTTATAACGT	0.478000													4	487					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32686368	32686368	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:32686368A>T	ENST00000374980.2	-	4	590	c.369T>A	c.(367-369)aaT>aaA	p.N123K		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	123						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCTTCTTTTTATTGCCAAGCA	0.368000													7	183					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388000													5	976					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428000													4	181					0.0215528	0.0219639	1	1	0
COPG1	22820	broad.mit.edu	37	3	128976337	128976337	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:128976337C>G	ENST00000314797.6	+	9	708	c.604C>G	c.(604-606)Cat>Gat	p.H202D		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	202					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GCTCCTGTACCATGTGCGTAA	0.517000													4	456					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160854675	160854675	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:160854675T>A	ENST00000326245.3	-	2	110		c.e2-2			NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTGTAATCTAAAGAAAGCA	0.493000													7	531					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378000													11	137					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135078	128135078	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:128135078T>A	ENST00000368250.1	-	5	971		c.e5-2		THEMIS_ENST00000543064.1_Splice_Site|THEMIS_ENST00000537166.1_Splice_Site|THEMIS_ENST00000368248.2_Splice_Site			Q8N1K5	THMS1_HUMAN	thymocyte selection associated						negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTTTTCGAACTAAAAAGAAAA	0.328000													4	89					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142054353	142054353	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:142054353T>A	ENST00000264951.4	-	34	3995		c.e34-2		XRN1_ENST00000392981.2_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTCTTTAACTAGAGACAAGA	0.313000													4	36					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428000													13	871					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		ZNF512_ENST00000413371.2_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site			Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363000													9	150					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858170	9858170	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:9858170A>T	ENST00000396573.2	-	14	3540	c.3231T>A	c.(3229-3231)agT>agA	p.S1077R	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1077R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1077R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S920R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1077					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTGGTTCTTACTGTTGTCAG	0.488000													8	332					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129722454	129722454	+	Missense_Mutation	SNP	G	G	A	rs150691000	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:129722454G>A	ENST00000421865.2	+	38	5580	c.5531G>A	c.(5530-5532)cGt>cAt	p.R1844H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1844	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1844H(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGCCAACCGTCTTGCAGAT	0.403000													4	242					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463000													8	609					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75816771	75816771	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:75816771T>A	ENST00000320460.4	+	4	680	c.672T>A	c.(670-672)agT>agA	p.S224R	GLIPR1L2_ENST00000378692.3_Splice_Site|GLIPR1L2_ENST00000550916.1_Splice_Site|GLIPR1L2_ENST00000435775.1_Splice_Site|GLIPR1L2_ENST00000441218.1_Splice_Site	NM_152436.2	NP_689649.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	224						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCTATGCAGTAAGATAAAGA	0.323000													6	249					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19482017	19482017	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:19482017T>C	ENST00000375267.2	-	43	6221	c.6218A>G	c.(6217-6219)cAg>cGg	p.Q2073R	UBR4_ENST00000375254.3_Missense_Mutation_p.Q2073R|UBR4_ENST00000375217.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375226.2_Missense_Mutation_p.Q2073R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2073					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCATAAGCTGAGTATAGAT	0.448000													3	217					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	80014925	80014925	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:80014925A>T	ENST00000328827.4	-	3	951	c.579T>A	c.(577-579)atT>atA	p.I193I		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	193	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTGTTGTGTAATTGCATCTT	0.373000													6	280					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41136788	41136788	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:41136788C>T	ENST00000344051.4	+	2	270	c.36C>T	c.(34-36)ctC>ctT	p.L12L	SPINT1_ENST00000431806.1_Silent_p.L12L|SPINT1_ENST00000562057.1_Silent_p.L12L			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	12						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		gcgcccgcctcgccccggccg	0.766000													7	5					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307989	43307989	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:43307989A>T	ENST00000361428.2	-	10	3824	c.3747T>A	c.(3745-3747)aaT>aaA	p.N1249K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1249	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGTTCCTTTTATTTTCAGCTT	0.413000													6	266					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:42022431A>T	ENST00000264451.6	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348000													8	102					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328386	61328386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:61328386G>T	ENST00000283752.5	-	2	208	c.65C>A	c.(64-66)tCa>tAa	p.S22*	SERPINB3_ENST00000332821.8_Nonsense_Mutation_p.S22*|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	22					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTTCTCTTTTGATTTTCTGAA	0.433000													9	696					4.1943e-16	4.45645e-16	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171509126	171509126	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:171509126G>A	ENST00000367742.3	+	16	2763	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	PRRC2C_ENST00000338920.4_Missense_Mutation_p.D839N|PRRC2C_ENST00000392078.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D839N			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	839							protein C-terminus binding										AGCTGCGTTGGACCAGGAACA	0.383000													82	239					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038732	139038732	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:139038732A>T	ENST00000370540.1	-	3	432	c.409T>A	c.(409-411)Tta>Ata	p.L137I		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	137	Ser-rich.					integral to membrane		p.L137I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTCTGATTAATTTTTCTGTG	0.438000													6	582					0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	46028588	46028588	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:46028588A>T	ENST00000453424.2	-	2	333	c.72T>A	c.(70-72)agT>agA	p.S24R	MARCH8_ENST00000319836.3_Missense_Mutation_p.S24R|MARCH8_ENST00000395771.3_Missense_Mutation_p.S24R|MARCH8_ENST00000395769.2_Missense_Mutation_p.S24R			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	24						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CTTTGGTCTTACTTCTGTAGA	0.398000													5	186					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428000													7	155					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106925	168106925	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:168106925T>A	ENST00000409195.1	+	9	9112	c.9023T>A	c.(9022-9024)gTa>gAa	p.V3008E	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2833					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGAAAAAGTAAAAGAAGAA	0.333000													5	137					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023803	6023803	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:6023803T>A	ENST00000574946.1	+	9	1940	c.1550T>A	c.(1549-1551)cTg>cAg	p.L517Q	WSCD1_ENST00000317744.5_Missense_Mutation_p.L517Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.L401Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	517						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAGGAGCGGCTGCTCTGCGTG	0.652000													33	70					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694792	111694792	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:111694792G>T	ENST00000435970.1	-	15	5348	c.4532C>A	c.(4531-4533)aCa>aAa	p.T1511K	REV3L_ENST00000368805.1_Missense_Mutation_p.T1589K|REV3L_ENST00000368802.3_Missense_Mutation_p.T1589K|REV3L_ENST00000358835.3_Missense_Mutation_p.T1589K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1589					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTTGTTTTGTACTTCTGGG	0.373000								DNA polymerases (catalytic subunits)					6	288					4.1943e-16	4.45645e-16	1	1	0
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17							CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358000													10	179					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158464376	158464376	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:158464376C>A	ENST00000355585.4	+	5	815	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SYNJ2_ENST00000367121.3_Missense_Mutation_p.S247Y|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S196Y|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S247Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	247	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGTGTCATCTTTTGTCCAG	0.493000													68	106					8.78091e-33	9.54669e-33	1	1	0
PRB2	653247	broad.mit.edu	37	12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612000													5	658					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358000													4	50					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176524604	176524604	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:176524604A>C	ENST00000292408.4	+	18	2581	c.2336A>C	c.(2335-2337)gAt>gCt	p.D779A	FGFR4_ENST00000393637.1_Missense_Mutation_p.D739A|FGFR4_ENST00000292410.3_Missense_Mutation_p.D739A|FGFR4_ENST00000502906.1_Missense_Mutation_p.D779A|FGFR4_ENST00000393648.2_Missense_Mutation_p.D711A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	779					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	TCCTCCAGCGATTCTGTCTTC	0.632000										TSP Lung(9;0.080)			66	77					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52337945	52337945	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:52337945A>T	ENST00000296585.5	+	3	332	c.189A>T	c.(187-189)ttA>ttT	p.L63F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	63					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTCTAGGTTACTGGTTGGTT	0.348000													4	100					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084879	31084879	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31084879C>G	ENST00000376288.2	-	2	539	c.513G>C	c.(511-513)ggG>ggC	p.G171G	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	171	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CAGAGCCATTCCCTACTTGGA	0.547000													33	67					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786826	7786826	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:7786826A>T	ENST00000358415.4	+	19	2647	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	827					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTGTTTTACTTCATCGTG	0.418000													4	71					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101765861	101765861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:101765861G>A	ENST00000375001.3	+	8	1615	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	398	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGAGGAAGGGGTCACTCCAGT	0.607000													35	50					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TTGTTGTTGTAGTTGGTACAG	0.428000			T	RET	papillary thyroid								7	644					0	0	1	0	0
EPCAM	4072	broad.mit.edu	37	2	47600621	47600621	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:47600621C>T	ENST00000263735.4	+	2	454	c.96C>T	c.(94-96)taC>taT	p.Y32Y	EPCAM_ENST00000405271.1_Silent_p.Y60Y	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	32					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GTGAAAACTACAAGCTGGCCG	0.323000													3	38					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909676	71909676	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:71909676T>A	ENST00000258104.3	+	54	6350	c.6073T>A	c.(6073-6075)Ttc>Atc	p.F2025I	DYSF_ENST00000413539.2_Missense_Mutation_p.F2056I|DYSF_ENST00000410020.3_Missense_Mutation_p.F2064I|DYSF_ENST00000410041.1_Missense_Mutation_p.F2043I|DYSF_ENST00000409651.1_Missense_Mutation_p.F2057I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.F2026I|DYSF_ENST00000409582.3_Missense_Mutation_p.F2063I|DYSF_ENST00000409366.1_Missense_Mutation_p.F2047I|DYSF_ENST00000409744.1_Missense_Mutation_p.F2033I|DYSF_ENST00000429174.2_Missense_Mutation_p.F2046I|DYSF_ENST00000409762.1_Missense_Mutation_p.F2042I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2025						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGACACCTCCTTCCTGTGGTT	0.547000													123	390					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421295	134421295	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:134421295A>T	ENST00000370766.3	-	7	4016	c.1307T>A	c.(1306-1308)cTa>cAa	p.L436Q	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.L341Q	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTGTGTGTGTAGATTTGTGTT	0.378000													5	290					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93815589	93815589	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:93815589A>G	ENST00000315765.9	+	10	1730	c.1722A>G	c.(1720-1722)ggA>ggG	p.G574G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	574	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTAGAAAGGAATAGACAAGG	0.343000													7	67					0	0	1	0	0
CALML4	91860	broad.mit.edu	37	15	68489912	68489912	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:68489912A>T	ENST00000448060.2	-	3	329	c.218T>A	c.(217-219)aTa>aAa	p.I73K	RP11-315D16.2_ENST00000562767.1_Missense_Mutation_p.N46K|CALML4_ENST00000540479.1_Missense_Mutation_p.I44K|CALML4_ENST00000467889.1_Missense_Mutation_p.I120K|CALML4_ENST00000395465.3_Intron	NM_001031733.2	NP_001026903.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	120	EF-hand 1.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TTCTTGTTTTATTTGCATGTG	0.453000													5	153					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328387	61328387	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:61328387A>T	ENST00000283752.5	-	2	207	c.64T>A	c.(64-66)Tca>Aca	p.S22T	SERPINB3_ENST00000332821.8_Missense_Mutation_p.S22T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	22					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTCTCTTTTGATTTTCTGAAC	0.428000													8	695					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Splice_Site|AJUBA_ENST00000361265.4_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein						cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCCTGAAAACTAAAGTAAAAG	0.453000													5	227					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996166	32996166	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:32996166T>C	ENST00000070846.6	-	6	1484	c.1460A>G	c.(1459-1461)cAa>cGa	p.Q487R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	487					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ccgcccgccttggcctcccaa	0.532000													2	25					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15669843	15669843	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:15669843A>G	ENST00000281171.4	+	9	2062	c.1732A>G	c.(1732-1734)Acc>Gcc	p.T578A	PTPRO_ENST00000543886.1_Missense_Mutation_p.T578A|PTPRO_ENST00000348962.2_Missense_Mutation_p.T578A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	578	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCAGAGTGGACCACCTACTA	0.443000													9	1134					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468430	56468430	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:56468430C>T	ENST00000312153.1	+	1	567	c.567C>T	c.(565-567)ggC>ggT	p.G189G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGCCTGTGGCGAGAAGGGCG	0.473000													20	158					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													12	87					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123855337	123855337	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:123855337G>A	ENST00000274008.3	+	5	660	c.591G>A	c.(589-591)ggG>ggA	p.G197G	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	197					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAGTGAAAGGGGCAGATGGCA	0.463000													15	111					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52943655	52943655	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:52943655T>C	ENST00000244426.6	+	4	568	c.396T>C	c.(394-396)acT>acC	p.T132T	FBXO9_ENST00000370939.3_Silent_p.T88T|FBXO9_ENST00000323557.7_Silent_p.T122T	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	132						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TCAAGATTACTTATACCCGGT	0.363000													14	26					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66976070	66976070	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:66976070C>G	ENST00000317091.4	+	9	2376	c.1392C>G	c.(1390-1392)ccC>ccG	p.P464P	CES2_ENST00000417689.1_Silent_p.P464P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	400					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		ATGGGGATCCCCAGACCCTCC	0.527000													36	63					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52160595	52160595	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:52160595A>T	ENST00000282588.6	+	4	753		c.e4-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTATTTTTAGTTAATACAT	0.328000													6	39					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452847	58452847	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:58452847T>G	ENST00000282308.3	-	3	1525	c.1329A>C	c.(1327-1329)ttA>ttC	p.L443F	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	443					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TCCTGCTAAATAATTTTCCAC	0.378000													5	125					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38110238	38110238	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:38110238A>T	ENST00000397166.2	+	14	2142		c.e14-1		DDHD2_ENST00000520272.2_Splice_Site|DDHD2_ENST00000517385.1_Splice_Site|DDHD2_ENST00000529845.1_Intron	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2						lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTTCCTATGTAGTTTGATCCT	0.418000													5	45					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68389676	68389676	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:68389676A>T	ENST00000263657.2	+	5	593		c.e5-1			NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)							nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						TTTCTTGTTTAGTTAAACCCC	0.403000													4	91					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42598262	42598262	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:42598262A>T	ENST00000330333.6	+	2	845	c.382A>T	c.(382-384)Acg>Tcg	p.T128S	BACE2_ENST00000328735.6_Missense_Mutation_p.T128S|BACE2_ENST00000347667.4_Missense_Mutation_p.T128S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	128					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTACATAGACACGTACTTTGA	0.488000													47	145					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTCTTGGTTACTTGCTGAAT	0.458000													11	406					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8629914	8629914	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:8629914A>T	ENST00000382073.3	+	6	671		c.e6-1			NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A						defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTTTTCCTTTAGATTTTGGCA	0.403000													5	270					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724196	140724196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:140724196C>T	ENST00000253812.6	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.A199V(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGCGGGCCCTGGACCGT	0.542000													36	139					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348000			T	ETV1	prostate								9	173					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6826207	6826207	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:6826207G>A	ENST00000307659.5	+	3	482	c.27G>A	c.(25-27)gtG>gtA	p.V9V	KIAA0232_ENST00000425103.1_Silent_p.V9V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	9							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAGTTGTTGTGGATGGTTTGC	0.453000													4	265					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168457860	168457860	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:168457860C>A	ENST00000283309.6	-	11	1631	c.1567G>T	c.(1567-1569)Gcc>Tcc	p.A523S	FRMD1_ENST00000440994.2_Missense_Mutation_p.A455S|FRMD1_ENST00000537786.1_Missense_Mutation_p.A294S|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	523						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGAGTGGCCCTGGTCTCG	0.667000													3	5					0.00024832	0.000256552	1	1	0
UGT1A6	54578	broad.mit.edu	37	2	234602415	234602415	+	Translation_Start_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:234602415A>T	ENST00000406651.1	+	0	78				UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Missense_Mutation_p.L255F|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron																central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTTGGCTGTTAAGATATGACT	0.408000													10	1433					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99801730	99801730	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:99801730G>A	ENST00000426455.1	+	26	3194	c.2787G>A	c.(2785-2787)ctG>ctA	p.L929L	STAG3_ENST00000394018.2_Silent_p.L871L|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.L929L|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	929					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCCTGCTGCTGAGCCTCA	0.498000													91	225					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75827250	75827250	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:75827250A>T	ENST00000322507.8	-	47	7676	c.7367T>A	c.(7366-7368)tTt>tAt	p.F2456Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1292Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.F2456Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2456	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCAACTACAAAGACACTGAA	0.393000													35	84					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186086589	186086589	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:186086589A>T	ENST00000271588.4	+	77	11912		c.e77-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGTTGTTTTAGTTCCACCTT	0.403000													5	94					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758001	141758001	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:141758001A>T	ENST00000475668.2	+	31	3747		c.e31-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTATTTTCTAGTTGATTGGC	0.428000													6	358					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408000													12	399					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358000													8	96					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007593	93007593	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:93007593G>A	ENST00000268164.3	+	6	1343	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G348D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	369					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGACTGTCGGCCAGTGCGAT	0.602000													5	530					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298004	4298004	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:4298004T>C	ENST00000301272.2	-	2	430	c.385A>G	c.(385-387)Aca>Gca	p.T129A	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.T129A	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	129	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGCCTTGTTATGTTGCCC	0.587000													19	78					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													7	231					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224744951	224744951	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:224744951T>A	ENST00000233055.4	-	11	1167		c.e11-2			NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1							cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GAAGTCCGACTAACAAGAGAA	0.443000													6	334					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000591436.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637000													17	62					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570154	241570154	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:241570154G>A	ENST00000319838.5	+	6	1727	c.785G>A	c.(784-786)aGc>aAc	p.S262N	GPR35_ENST00000438013.2_Missense_Mutation_p.S293N|GPR35_ENST00000407714.1_Missense_Mutation_p.S262N|GPR35_ENST00000430267.1_Missense_Mutation_p.S262N|GPR35_ENST00000403859.1_Missense_Mutation_p.S262N	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	262						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TACATAACCAGCAAGCTCTCA	0.632000													4	115					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267218	124267218	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:124267218A>T	ENST00000395571.3	-	3	1586	c.969T>A	c.(967-969)taT>taA	p.Y323*	ZHX1_ENST00000522655.1_Nonsense_Mutation_p.Y323*|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.Y323*|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	323	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTCCTCTGTATATTTTGCTT	0.398000													6	430					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G	rs148310097	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522000													6	822					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49840543	49840543	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:49840543A>G	ENST00000376088.3	+	7	1150	c.509A>G	c.(508-510)cAt>cGt	p.H170R	CLCN5_ENST00000307367.2_Missense_Mutation_p.H100R|CLCN5_ENST00000376108.3_Missense_Mutation_p.H100R|CLCN5_ENST00000376091.3_Missense_Mutation_p.H170R	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	100					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AACCATGAACATTGTTGCTGG	0.428000													8	357					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38450200	38450200	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:38450200A>T	ENST00000209728.4	+	6	1307		c.e6-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTCTTTTTATAGTGTGTTGGT	0.408000													10	360					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47008758	47008758	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:47008758G>A	ENST00000395460.2	+	2	84		c.e2-1		C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TTTGATTGCAGCTCAGCGACA	0.428000													5	298					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78362323	78362323	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:78362323C>G	ENST00000397909.2	+	5	685	c.512C>G	c.(511-513)gCc>gGc	p.A171G	NAV3_ENST00000536525.2_Missense_Mutation_p.A171G|NAV3_ENST00000228327.6_Missense_Mutation_p.A171G|NAV3_ENST00000266692.7_Missense_Mutation_p.A171G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	171	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACTTAAAAGCCATTCTAGGG	0.333000										HNSCC(70;0.22)			11	17					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757929	128757929	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:128757929A>G	ENST00000357702.5	-	8	1178	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	SAP130_ENST00000259234.6_Silent_p.S323S|SAP130_ENST00000259235.3_Silent_p.S349S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	349					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATGCAGGGTGAGATGGTAGTG	0.473000													180	635					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747330	158747330	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:158747330T>A	ENST00000339258.1	-	1	95	c.96A>T	c.(94-96)ctA>ctT	p.L32L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTATGCCAATAGCAGCAGGA	0.493000													8	933					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38807138	38807138	+	Splice_Site	SNP	G	G	A	rs139485137	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:38807138G>A	ENST00000310301.4	-	15	1300	c.1247_splice	c.e15+1	p.R416_splice	VPS41_ENST00000395969.2_Splice_Site_p.R391_splice	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	416					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATCATTACCGTGCTGCTATG	0.318000													24	125					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465702	241465702	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:241465702A>G	ENST00000391987.1	-	6	1213	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L	ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F372L|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.F283L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	283							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTAGCAAAGTTGTCCTTC	0.562000													31	57					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000396936.1_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11							CUL4 RING ubiquitin ligase complex	protein binding										TGCTTCTCTTAGTTCATATCT	0.463000													6	316					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147038	129147038	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:129147038C>G	ENST00000540052.1	+	3	334	c.290C>G	c.(289-291)cCa>cGa	p.P97R	BCORL1_ENST00000303743.5_Missense_Mutation_p.P97R|BCORL1_ENST00000218147.7_Missense_Mutation_p.P97R|BCORL1_ENST00000359304.2_Missense_Mutation_p.P97R|BCORL1_ENST00000488135.1_3'UTR	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	97					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GATCCCCAGCCAAAAATGGAC	0.602000													3	94					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114394727	114394727	+	Splice_Site	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:114394727C>A	ENST00000359785.5	-	10	886		c.e10-1		PTPN22_ENST00000538253.1_Splice_Site|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Splice_Site	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						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)		CAGGAATTATCTATCAAATTA	0.348000													3	17					1	1	1	1	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537847	75537847	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:75537847A>T	ENST00000524913.1	+	2	1060	c.571A>T	c.(571-573)Act>Tct	p.T191S	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.T191S|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.T191S	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	191																	TGTGGTTGGTACTGTTCTTGC	0.542000													7	752					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247033	39247033	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:39247033G>A	ENST00000518318.2	+	4	367	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	POU6F2_ENST00000559001.1_Missense_Mutation_p.V101M|POU6F2_ENST00000403058.1_Missense_Mutation_p.V109M|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	109					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGGCCGGCGTGATGCCGGG	0.577000													19	321					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757928	128757928	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:128757928G>A	ENST00000357702.5	-	8	1179	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	SAP130_ENST00000259234.6_Missense_Mutation_p.H324Y|SAP130_ENST00000259235.3_Missense_Mutation_p.H350Y	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	350					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATGCAGGGTGAGATGGTAGT	0.473000													180	633					0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53398085	53398085	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:53398085G>A	ENST00000226067.5	+	4	1206	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	HLF_ENST00000575307.1_3'UTR|HLF_ENST00000430986.2_Missense_Mutation_p.A160T|HLF_ENST00000575345.1_Missense_Mutation_p.A160T|HLF_ENST00000573945.1_Missense_Mutation_p.A160T	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	245					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CTCCCGCGACGCCCGGAGGCT	0.557000			T	TCF3	ALL								15	67					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69399514	69399514	+	Nonstop_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:69399514T>A	ENST00000409349.3	+	15	1208	c.1105T>A	c.(1105-1107)Taa>Aaa	p.*369K	ANTXR1_ENST00000303714.4_Intron	NM_053034.2	NP_444262.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	0					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAAAATAAAATAACAAGAAGA	0.383000									Familial Infantile Hemangioma				4	86					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40277232	40277232	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:40277232A>T	ENST00000309930.5	+	7	529		c.e7-1		C7orf10_ENST00000401647.2_Splice_Site|C7orf10_ENST00000335693.4_Splice_Site	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10								transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGTTGTTTTAGGGTATGGTC	0.443000													7	267					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31019246	31019246	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:31019246C>G	ENST00000375687.4	+	9	1265	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	ASXL1_ENST00000306058.5_Missense_Mutation_p.Q276E	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	281					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATCACACTTCCAGCAGCAGCT	0.527000			"""F, N, Mis"""		"""MDS, CMML"""								17	205					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169438076	169438076	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:169438076T>A	ENST00000236137.5	-	4	1267		c.e4-2		SLC19A2_ENST00000367802.3_Splice_Site|SLC19A2_ENST00000367804.3_Splice_Site	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2						thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CAACAGCACCTACAGAACAAA	0.328000													5	132					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531590	190531590	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:190531590A>T	ENST00000260952.4	+	4	1145	c.732A>T	c.(730-732)ttA>ttT	p.L244F	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	244					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTGTTCCTTTAAATATGATGT	0.378000													5	248					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma).|S -> L (in VHLD; type I).|S -> W (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				3	3					0.115264	0.117143	1	1	0
RTTN	25914	broad.mit.edu	37	18	67809625	67809625	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:67809625T>A	ENST00000255674.6	-	19	2768		c.e19-2		RTTN_ENST00000437017.1_Splice_Site|RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin								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)				AGTCTCCAACTACAAACCAAA	0.328000													5	82					0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46198653	46198653	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:46198653A>C	ENST00000393405.2	+	8	950	c.596A>C	c.(595-597)gAa>gCa	p.E199A	SNX11_ENST00000439357.2_Missense_Mutation_p.E138A|SNX11_ENST00000452859.2_Missense_Mutation_p.E55A|SNX11_ENST00000359238.2_Missense_Mutation_p.E199A|SNX11_ENST00000582104.1_Missense_Mutation_p.E191A|SNX11_ENST00000580219.1_Missense_Mutation_p.E191A	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	199					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CCTCCCAGTGAAGAAAAGGAC	0.507000													28	271					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47497874	47497874	+	Missense_Mutation	SNP	G	G	T	rs145777693	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:47497874G>T	ENST00000455779.1	+	2	210	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F	PHKB_ENST00000567402.1_Intron|PHKB_ENST00000566044.1_Missense_Mutation_p.V9F|PHKB_ENST00000323584.5_Intron|PHKB_ENST00000299167.8_Intron			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	0	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGATGCAGTCGTCTCTCCGTC	0.403000													9	95					9.05144e-12	9.56282e-12	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16913735	16913735	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:16913735T>C	ENST00000430580.2	-	11	1475	c.588A>G	c.(586-588)gaA>gaG	p.E196E		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	196	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGACTTTGCTTTCTTCAGCCT	0.507000													5	673					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049643	9049643	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:9049643G>C	ENST00000397910.4	-	5	32191	c.31988C>G	c.(31987-31989)aCt>aGt	p.T10663S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10665	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						TGTTGTACTAGTATCTGTCCC	0.488000													9	594					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:152497182T>A	ENST00000397345.3	-	61	8576		c.e61-2		NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin						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)		GTACTTGAACTAAAAGAAGAA	0.398000													7	214					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55457606	55457606	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:55457606G>T	ENST00000371268.3	+	3	737	c.463G>T	c.(463-465)Gcc>Tcc	p.A155S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	155						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TACGGAGGAAGCCCTGGAGCC	0.627000													35	59					8.16277e-20	8.82334e-20	1	1	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													4	458					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042411	42042411	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:42042411T>A	ENST00000219905.7	+	17	6787	c.6606T>A	c.(6604-6606)atT>atA	p.I2202I	MGA_ENST00000545763.1_Silent_p.I1993I|MGA_ENST00000566586.1_Silent_p.I1993I|MGA_ENST00000570161.1_Silent_p.I2202I|MGA_ENST00000389936.4_Silent_p.I2163I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2163						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGCAGTTAATTAAAGAAACAA	0.413000													5	172					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122536951	122536951	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:122536951T>A	ENST00000264357.5	+	8	1477		c.e8+2		GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCTCGAAAAGTAAGTAACCAA	0.323000													7	263					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674702	4674702	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:4674702T>G	ENST00000396952.5	+	2	1596	c.946T>G	c.(946-948)Tca>Gca	p.S316A	OR51E1_ENST00000530215.1_3'UTR	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACACACGCTTCAGAGCCCTA	0.428000													215	397					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18188466	18188466	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:18188466T>A	ENST00000321105.5	-	15	2081	c.1867A>T	c.(1867-1869)Aaa>Taa	p.K623*	TOP3A_ENST00000542570.1_Nonsense_Mutation_p.K528*|TOP3A_ENST00000540524.1_Nonsense_Mutation_p.K153*	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	623					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTCTTTGCTTTAGCCACCGCT	0.458000													64	101					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228862	21228862	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:21228862A>T	ENST00000233242.1	-	26	11005	c.10878T>A	c.(10876-10878)acT>acA	p.T3626T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3626					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)	TCTGGTTCTTAGTGTTAGCAT	0.488000													6	137					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124211627	124211627	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:124211627T>G	ENST00000360013.3	+	32	4851	c.4724T>G	c.(4723-4725)aTt>aGt	p.I1575S	KALRN_ENST00000460856.1_Missense_Mutation_p.I1566S|KALRN_ENST00000240874.3_Missense_Mutation_p.I1575S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1575	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAGAACATTCGAGAAGTG	0.463000													58	111					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43520354	43520354	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:43520354T>A	ENST00000405006.4	-	32	4790		c.e32-2		THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated								binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTCCAGAACTAAGAAGCAAA	0.458000													4	92					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160037570	160037570	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:160037570A>T	ENST00000326448.7	-	9	1367	c.935T>A	c.(934-936)tTa>tAa	p.L312*	RP11-432B6.3_ENST00000483754.1_Nonsense_Mutation_p.L483*|IFT80_ENST00000483465.1_Nonsense_Mutation_p.L175*|IFT80_ENST00000496589.1_Nonsense_Mutation_p.L175*	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	312						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCTTTTCGTTAATGTTACTTG	0.373000													7	149					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45832575	45832575	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:45832575T>A	ENST00000263736.4	-	2	68	c.6A>T	c.(4-6)tcA>tcT	p.S2S		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	2					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTGGCAATGATGACATCTAGA	0.343000													112	138					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48335776	48335776	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:48335776T>A	ENST00000428869.2	-	4	255		c.e4-2		MRO_ENST00000256425.2_Splice_Site|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Splice_Site|MRO_ENST00000587291.1_Intron|MRO_ENST00000436348.2_Intron|MRO_ENST00000398439.3_Splice_Site			Q9BYG7	MSTRO_HUMAN	maestro							nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TCCATGGAACTAAAAACAAAA	0.428000													4	56					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184922240	184922240	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:184922240C>T	ENST00000231887.3	-	6	949	c.874G>A	c.(874-876)Gca>Aca	p.A292T	EHHADH_ENST00000456310.1_Missense_Mutation_p.A196T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	292	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CGCGCTGATGCTGTTTTCCAC	0.483000													103	227					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78599514	78599514	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:78599514A>T	ENST00000306801.3	+	2	548	c.186A>T	c.(184-186)ttA>ttT	p.L62F	RPTOR_ENST00000544334.2_Missense_Mutation_p.L62F|RPTOR_ENST00000570891.1_Missense_Mutation_p.L62F|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	62					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTGTTGCCTTAGTTTTGTGCC	0.433000													10	769					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24795283	24795283	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:24795283A>T	ENST00000310677.4	-	13	1769		c.e13+1		ADCY4_ENST00000418030.2_Splice_Site|ADCY4_ENST00000396747.3_Splice_Site|ADCY4_ENST00000554068.2_Splice_Site	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTTCTCCGTACTTCTGCGAG	0.612000													5	175					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858608	149858608	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:149858608A>G	ENST00000331380.2	+	1	84	c.84A>G	c.(82-84)gtA>gtG	p.V28V		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	28					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTTCCCGGTAGGGCGAGTGC	0.672000													5	279					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701613	62701613	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:62701613G>A	ENST00000361317.2	+	8	879	c.436_splice	c.e8-1	p.C146_splice	TCEA2_ENST00000343484.5_Splice_Site_p.C173_splice|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	173	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACTTGCACGCATCTTCCGG	0.582000											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	119					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308000													7	71					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93719733	93719733	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93719733A>T	ENST00000265990.6	+	11	1394		c.e11-1		BTAF1_ENST00000471217.1_Splice_Site	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTCGTCTGTAGGTTGTGGCA	0.368000													7	305					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253460	65253460	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:65253460G>A	ENST00000455586.2	-	2	394	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	VSIG4_ENST00000374737.4_Missense_Mutation_p.H90Y|VSIG4_ENST00000412866.2_Missense_Mutation_p.H90Y	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	90	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAACCTTGTGGCTCACATGC	0.552000													178	330					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:31851205C>A	ENST00000382902.1	-	3	609	c.517G>T	c.(517-519)Gag>Tag	p.E173*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.E173*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	173	TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.E173Q(1)|p.E173K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572000													3	113					0.150653	0.152695	1	1	0
NUDT19	390916	broad.mit.edu	37	19	33183154	33183154	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:33183154C>A	ENST00000397061.3	+	1	288	c.288C>A	c.(286-288)ttC>ttA	p.F96L		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	96	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CGGCGCCATTCAGCCGCACCG	0.726000													6	16					0.217242	0.218999	1	1	0
MGEA5	10724	broad.mit.edu	37	10	103565869	103565869	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:103565869C>T	ENST00000361464.3	-	6	1079	c.684G>A	c.(682-684)gtG>gtA	p.V228V	MGEA5_ENST00000439817.1_Silent_p.V228V|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000370094.3_Silent_p.V228V|MGEA5_ENST00000357797.5_Silent_p.V228V	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	228					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGACTGAGACACATTTGGAT	0.353000													9	24					0	0	1	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12921170	12921170	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12921170G>C	ENST00000221486.4	+	6	683	c.589G>C	c.(589-591)Gag>Cag	p.E197Q		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	197					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCAGTTCGTGGAGAAACTGCA	0.567000													75	153					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383000													7	160					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:37015253A>T	ENST00000418263.1	+	7	1445		c.e7-1		CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1						cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393000													4	95					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120388454	120388454	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:120388454G>T	ENST00000602047.1	+	20	2205	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PCDP1_ENST00000413369.3_Missense_Mutation_p.D651Y			Q4G0U5	PCDP1_HUMAN		651						cilium	calmodulin binding					Colorectal(110;0.196)					CATGTCTCTAGATTATGATCC	0.443000													122	454					2.03726e-86	2.23442e-86	1	1	0
C10orf137	26098	broad.mit.edu	37	10	127442400	127442400	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:127442400T>A	ENST00000337623.3	+	23	3534	c.3429T>A	c.(3427-3429)acT>acA	p.T1143T	C10orf137_ENST00000356792.4_Silent_p.T1177T	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	1177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TATCTTCAACTAAAAAGAAAA	0.333000													4	60					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:146244777A>T	ENST00000367503.3	-	18	3971		c.e18+1		SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323000													4	77					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													11	962					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102445654	102445654	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:102445654A>T	ENST00000360184.4	+	3	508		c.e3-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTTCTTTTTAGCTTGGCATT	0.358000													5	112					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGTTCTAGTTCCTTAAT	0.398000													6	460					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003124	16003124	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:16003124T>C	ENST00000221700.5	-	5	615	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	CYP4F2_ENST00000592328.1_Missense_Mutation_p.M174V|CYP4F2_ENST00000011989.7_Missense_Mutation_p.M25V	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	174					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCACGTGCATGATGTTCACA	0.502000													4	548					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724672	113724672	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:113724672A>T	ENST00000295878.3	-	10	1697	c.1551T>A	c.(1549-1551)aaT>aaA	p.N517K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGTGCTGCTTATTGCCAGGTG	0.542000													6	332					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32272228	32272228	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:32272228T>A	ENST00000400246.1	+	37	3924	c.3782T>A	c.(3781-3783)gTa>gAa	p.V1261E	DEPDC5_ENST00000382111.2_Missense_Mutation_p.V1261E|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V1239E|DEPDC5_ENST00000539165.1_Missense_Mutation_p.V78E|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V1161E|DEPDC5_ENST00000382112.3_Missense_Mutation_p.V1252E|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400248.1_Missense_Mutation_p.V1230E|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V1230E			O75140	DEPD5_HUMAN	DEP domain containing 5	1230					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACAAGATAGTAACGGACAAA	0.517000													5	350					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150398270	150398270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:150398270G>T	ENST00000295910.6	-	9	1148	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	FAM194A_ENST00000491361.1_Missense_Mutation_p.H220N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	366										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAGAGAAATGAGTCTGTTCC	0.383000													71	241					1.84514e-49	2.01779e-49	1	1	0
ZFX	7543	broad.mit.edu	37	X	24225441	24225441	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:24225441A>T	ENST00000379177.1	+	7	1073		c.e7-1		ZFX_ENST00000379188.3_Splice_Site|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000539115.1_Splice_Site	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTTCCTTTTTAGTGGATGATG	0.338000													6	223					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39047874	39047874	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:39047874T>A	ENST00000331366.5	-	20	1603		c.e20-2		CPNE8_ENST00000546603.1_Splice_Site|CPNE8_ENST00000538596.2_Splice_Site|CPNE8_ENST00000360449.3_Splice_Site	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII											NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TGGCACAAACTAAAACAGAGA	0.383000													4	96					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346532	48346532	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48346532A>T	ENST00000319856.4	+	1	61	c.40A>T	c.(40-42)Ata>Tta	p.I14L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTTGTCTTTATAGGCAATAC	0.383000													5	280					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:117644000A>T	ENST00000369466.3	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299000													4	55					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531591	190531591	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:190531591A>T	ENST00000260952.4	+	4	1146	c.733A>T	c.(733-735)Aat>Tat	p.N245Y	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	245					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTTCCTTTAAATATGATGTT	0.378000													5	244					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921210	12921210	+	Missense_Mutation	SNP	G	G	A	rs141943881	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:12921210G>A	ENST00000240189.2	+	4	1088	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	334										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTTCCGCATCAGTCTT	0.507000													6	969					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734255	26734255	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:26734255T>A	ENST00000396005.3	-	2	649		c.e2-2		SLC5A12_ENST00000280467.6_Splice_Site	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTAAGTACTAAAGGAAACA	0.428000													9	899					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93756124	93756124	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93756124A>T	ENST00000265990.6	+	24	3617		c.e24-1			NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTTTGTTTTTAGTTGGTCCAG	0.358000													7	101					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1721888	1721888	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:1721888T>G	ENST00000378609.4	-	9	976	c.645A>C	c.(643-645)gaA>gaC	p.E215D		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	215					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCACATGCCTTCTCGCACAT	0.567000													57	119					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127507357	127507357	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:127507357A>T	ENST00000262461.2	+	19	2912		c.e19-1		SLC12A2_ENST00000343225.4_Splice_Site	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2						potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ttttgttcttAGTGATGCTTT	0.269000													4	219					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54049278	54049278	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:54049278T>A	ENST00000338154.6	-	3	603		c.e3-2		PHF8_ENST00000357988.5_Splice_Site|PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000338946.6_Splice_Site	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAACACAACTGAAAAAGAGA	0.413000													5	112					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51935870	51935870	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:51935870T>A	ENST00000371117.3	-	9	878		c.e9-2		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAGGATAACTAAGGAAAAGA	0.403000													6	301					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520544	176520544	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:176520544C>G	ENST00000292408.4	+	10	1634	c.1389C>G	c.(1387-1389)ccC>ccG	p.P463P	FGFR4_ENST00000393637.1_Silent_p.P423P|FGFR4_ENST00000292410.3_Silent_p.P423P|FGFR4_ENST00000502906.1_Silent_p.P463P|FGFR4_ENST00000393648.2_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	463					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GGGAGTTCCCCCGGGACAGGT	0.682000										TSP Lung(9;0.080)			8	534					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806985	6806985	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:6806985C>T	ENST00000307401.4	+	1	738	c.717C>T	c.(715-717)gtC>gtT	p.V239V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGCCCTTGTCACCTGCTCTT	0.493000													16	218					0	0	1	0	0
CMC4	100272147	broad.mit.edu	37	X	154292310	154292310	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:154292310T>A	ENST00000369484.3	-	2	669		c.e2-2		CMC4_ENST00000369479.1_Splice_Site|MTCP1_ENST00000369476.3_3'UTR	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		TCCAGAAAACTAAAACAAGAA	0.338000													6	66					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32365941	32365941	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:32365941A>T	ENST00000298386.2	+	15	1216		c.e15-1		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2							integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTGACTTTAGTTATTTCAA	0.433000													4	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179460510	179460510	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:179460510A>G	ENST00000589042.1	-	295	57795	c.57571T>C	c.(57571-57573)Ttc>Ctc	p.F19191L	TTN_ENST00000342175.6_Missense_Mutation_p.F10318L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F16623L|TTN_ENST00000359218.5_Missense_Mutation_p.F10251L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F17550L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F10126L|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17550	Ig-like 108.						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)			TGAGCTAGGAATGGTGTTCCA	0.393000													4	31					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111011	46111011	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:46111011A>T	ENST00000321037.4	+	4	1227		c.e4-1			NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTTCTTTTTCAGTAGGTGACC	0.358000													5	317					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740155	109740155	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:109740155G>A	ENST00000369939.3	+	16	2364	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.E640E	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	727					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGAGGGTGAGTCAGGGTTCT	0.552000													5	174					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126666981	126666981	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:126666981A>T	ENST00000274473.6	+	3	249		c.e3-1		MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCTTTCTTGTAGGTTGTTCTT	0.383000													4	54					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								5	164					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148586585	148586585	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:148586585G>C	ENST00000340855.6	-	1	292	c.83C>G	c.(82-84)aCg>aGg	p.T28R	IDS_ENST00000541269.1_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.T28R|IDS_ENST00000370443.4_Missense_Mutation_p.T28R|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.T28R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	28						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTTGGCCTGCGTTTCGGATCC	0.647000													90	164					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40630546	40630546	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:40630546G>T	ENST00000343619.4	+	7	695	c.572G>T	c.(571-573)tGc>tTc	p.C191F	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	191					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.C191F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGCGGGTATGCCGGGGAAAT	0.532000													8	110					1.12685e-05	1.16743e-05	1	1	0
RYR2	6262	broad.mit.edu	37	1	237982465	237982465	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:237982465A>T	ENST00000366574.2	+	101	14880	c.14563A>T	c.(14563-14565)Att>Ttt	p.I4855F	RYR2_ENST00000360064.6_Missense_Mutation_p.I4861F|RYR2_ENST00000542537.1_Missense_Mutation_p.I4839F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4855					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCTTTGTTATTGTCATTCT	0.408000													7	318					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													10	479					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85704229	85704229	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:85704229T>A	ENST00000322366.6	-	25	4470		c.e25-2		WDFY3_ENST00000295888.4_Splice_Site			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATGCCTAACTGAAAAATAGG	0.373000													5	261					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8673776	8673776	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:8673776C>A	ENST00000317371.4	-	12	1518	c.293G>T	c.(292-294)aGt>aTt	p.S98I	SSUH2_ENST00000415132.1_Missense_Mutation_p.S98I|SSUH2_ENST00000341795.3_Missense_Mutation_p.S98I|SSUH2_ENST00000544814.1_Missense_Mutation_p.S120I					ssu-2 homolog (C. elegans)																		CCTGGATTCACTAAAGGTCTC	0.423000													46	51					6.176e-18	6.65655e-18	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102516411	102516411	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:102516411T>G	ENST00000360184.4	+	77	13852	c.13688T>G	c.(13687-13689)tTg>tGg	p.L4563W	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4563					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACAGGTTTGAAACTTCAA	0.587000													110	170					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555434	148555434	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:148555434C>T	ENST00000296582.3	+	10	1740	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	389						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						ATTGCTTCTTCTATGCCACCT	0.418000													45	332					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212530141	212530141	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:212530141C>A	ENST00000342788.4	-	15	2088	c.1778G>T	c.(1777-1779)tGt>tTt	p.C593F	ERBB4_ENST00000402597.1_Missense_Mutation_p.C593F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C593F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	593	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCCATCTGGACATTTTTCCAC	0.428000										TSP Lung(8;0.080)			32	155					8.4185e-14	8.91932e-14	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58814442	58814442	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:58814442T>A	ENST00000355431.3	+	15	1623	c.1250T>A	c.(1249-1251)gTa>gAa	p.V417E	ARID4A_ENST00000431317.2_Missense_Mutation_p.V417E|ARID4A_ENST00000395168.3_Missense_Mutation_p.V417E|ARID4A_ENST00000348476.3_Missense_Mutation_p.V417E	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	417					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAACCAAAAGTAAAAGAGGAA	0.348000													5	79					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	180					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44596402	44596402	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:44596402G>T	ENST00000372299.3	+	3	1202	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y		NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	382					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGAGAGCAGGACAGTCCTCC	0.502000													55	78					2.31391e-43	2.52304e-43	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861593	55861593	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:55861593G>A	ENST00000302124.2	+	1	841	c.810G>A	c.(808-810)gcG>gcA	p.A270A	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACCCAGGCGCAGGTGGCAT	0.453000													3	139					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738038	19738038	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:19738038A>T	ENST00000222567.5	-	4	988	c.918T>A	c.(916-918)caT>caA	p.H306Q		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	306	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTTTCTTTTTATGGTCACTTT	0.393000													12	248					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085463	9085463	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:9085463C>T	ENST00000397910.4	-	1	6555	c.6352G>A	c.(6352-6354)Gcg>Acg	p.A2118T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	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						AAAGTACTCGCGGCTGTATTC	0.488000													5	546					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364829	22364829	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:22364829A>C	ENST00000263160.3	+	3	813	c.376A>C	c.(376-378)Atg>Ctg	p.M126L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	126					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AACCGTGGGGATGATCCACGG	0.532000													31	74					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848626	42848626	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42848626C>A	ENST00000334370.4	+	11	2457	c.1822C>A	c.(1822-1824)Ctc>Atc	p.L608I	MEGF8_ENST00000251268.6_Missense_Mutation_p.L608I	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	608	PSI 1.					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)				CCTGGGCCGCCTCCTGGGTGA	0.672000													18	22					1.80694e-10	1.90365e-10	1	1	0
MASP1	5648	broad.mit.edu	37	3	186937924	186937924	+	Missense_Mutation	SNP	C	C	T	rs3774266		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:186937924C>T	ENST00000337774.5	-	16	2424	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	679	Peptidase S1.		G -> R (in dbSNP:rs3774266).		complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAGTATACTCCGTAGCGGTCC	0.572000											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	352					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30408355	30408355	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:30408355A>T	ENST00000333027.3	+	13	1449		c.e13-1		CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Splice_Site|MTMR3_ENST00000406629.1_Splice_Site|MTMR3_ENST00000401950.2_Splice_Site|MTMR3_ENST00000351488.3_Splice_Site	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3						phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGTTTTTATAGTTGGCTATC	0.388000													5	183					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724119	142724119	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:142724119T>A	ENST00000350513.2	-	1	163	c.101A>T	c.(100-102)tAt>tTt	p.Y34F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGTCACTAAATAGAAGAAAAA	0.443000													6	337					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872904	15872904	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:15872904A>T	ENST00000285670.2	-	7	1092	c.918T>A	c.(916-918)agT>agA	p.S306R	SAMSN1_ENST00000400564.1_Missense_Mutation_p.S70R|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400566.1_Missense_Mutation_p.S238R	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	238					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTGCTGTTACTCCTTCGGT	0.408000													4	59					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42912198	42912198	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42912198C>T	ENST00000244289.4	-	4	1862	c.1586G>A	c.(1585-1587)cGg>cAg	p.R529Q	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	529					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)				CTGTGTGATCCGCTCAAACTC	0.602000													62	199					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130897742	130897742	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:130897742T>A	ENST00000509018.1	-	5	487		c.e5-2		FNIP1_ENST00000514667.1_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000510071.1_Splice_Site|RAPGEF6_ENST00000308008.6_Splice_Site|RAPGEF6_ENST00000307984.5_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTACCAAAACTATAAAAACAG	0.284000													4	96					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708465	37708465	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:37708465A>G	ENST00000539465.1	+	4	922	c.329A>G	c.(328-330)gAc>gGc	p.D110G	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D110G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	110	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTGCTGAAGACCTTTCCTGG	0.453000													43	114					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170134463	170134463	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:170134463T>A	ENST00000263816.3	-	13	1851		c.e13-2		LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATAAATAACTACAAAAGAAA	0.363000													4	58					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:133948805A>T	ENST00000414371.2	+	4	396	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343000													12	200					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													4	64					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118623533	118623533	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:118623533A>T	ENST00000354673.2	-	8	1193	c.813T>A	c.(811-813)aaT>aaA	p.N271K	IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K|IGSF11_ENST00000393775.2_Missense_Mutation_p.N272K	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCCTCTTTATTTTTGCTTC	0.343000													4	122					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10955427	10955427	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:10955427T>A	ENST00000283141.6	+	24	2329	c.2033T>A	c.(2032-2034)aTa>aAa	p.I678K		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	678						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCTTTCTCAATAACAGAAGAA	0.443000											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	238					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15865513	15865513	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:15865513G>A	ENST00000338282.6	-	9	1052	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	MYH11_ENST00000576790.1_Missense_Mutation_p.P316S|MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000300036.5_Missense_Mutation_p.P316S	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGGGATGGGCACAAAGCCA	0.517000			T	CBFB	AML								5	709					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603282	111603282	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:111603282G>A	ENST00000431670.2	+	2	769	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PHLDB2_ENST00000481953.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G147R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G120R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	120						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCCCTCAGTGGATATCCACT	0.448000													20	771					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43112204	43112204	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:43112204A>G	ENST00000452796.2	-	1	305	c.50T>C	c.(49-51)gTg>gCg	p.V17A	DCAKD_ENST00000342350.5_Missense_Mutation_p.V17A|DCAKD_ENST00000310604.4_Missense_Mutation_p.V17A|DCAKD_ENST00000588499.1_Missense_Mutation_p.V17A|DCAKD_ENST00000588295.1_5'UTR			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	17	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CACCTGGATCACTGAGCTCTT	0.617000													16	93					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3151561	3151561	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:3151561A>G	ENST00000381075.2	+	12	1178	c.954A>G	c.(952-954)ggA>ggG	p.G318G	PFKP_ENST00000381125.4_Silent_p.G326G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	326					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCCGCATGGGAGTGGAGGCAG	0.637000													14	13					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27878230	27878230	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:27878230A>T	ENST00000337768.5	-	5	1552		c.e5+1		SUPT7L_ENST00000406540.1_Splice_Site|SUPT7L_ENST00000405491.1_Splice_Site|SUPT7L_ENST00000404798.2_Splice_Site|SUPT7L_ENST00000464789.2_Splice_Site	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like						histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TATTTGTCTTACTTGAAGCCT	0.453000													6	197					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045516	62045516	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:62045516G>A	ENST00000578147.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000435607.1_Silent_p.Y301Y			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTCATTGCCGTACCACGTGT	0.552000													8	1057					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919627	58919627	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:58919627T>A	ENST00000528737.1	+	5	3304	c.486T>A	c.(484-486)agT>agA	p.S162R	FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R|FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R|FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	162					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAGTAAAAGTAAGCAGAAGG	0.413000													5	235					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448000													6	191					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683565	100683565	+	Missense_Mutation	SNP	G	G	C	rs146122067		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:100683565G>C	ENST00000306151.4	+	3	8932	c.8868G>C	c.(8866-8868)agG>agC	p.R2956S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2956	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTGACACCAGGACACCTGTCA	0.483000													4	449					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	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						TTGTTTATTTAATTCAAGTGT	0.418000													9	800					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52472479	52472479	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:52472479C>T	ENST00000216286.5	-	21	4092	c.4093G>A	c.(4093-4095)Gca>Aca	p.A1365T	NID2_ENST00000541773.1_Missense_Mutation_p.A1264T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1365						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTAGACTGCAGTTATCCCG	0.418000													45	138					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412314	81412314	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:81412314G>A	ENST00000430430.1	+	3	2337	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	ZBTB10_ENST00000379091.4_Missense_Mutation_p.G228S|ZBTB10_ENST00000426744.2_Missense_Mutation_p.G520S|ZBTB10_ENST00000455036.3_Missense_Mutation_p.G520S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	520					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAAAATGATGGTTGTAATGT	0.403000													22	90					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145849222	145849222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:145849222T>A	ENST00000296702.5	+	7	1352	c.1314T>A	c.(1312-1314)taT>taA	p.Y438*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.Y417*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	438	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTGAATATAAAACAGCAG	0.403000													6	340					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358493	102358493	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:102358493A>T	ENST00000332238.4	+	1	128	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTTGTTCTACTTTGCGAGC	0.423000													13	869					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045023	35045023	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:35045023C>T	ENST00000290374.4	-	2	1098	c.622G>A	c.(622-624)Gcc>Acc	p.A208T		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	208					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATTTCCAGGGCATTTCGGAAC	0.502000													30	82					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150940953	150940953	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:150940953A>T	ENST00000271688.6	-	3	595	c.209T>A	c.(208-210)aTa>aAa	p.I70K	CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.I70K|CERS2_ENST00000368954.5_Missense_Mutation_p.I70K	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	70						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTTCTCCTTTATGTTCAAGAG	0.557000													5	130					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116356377	116356377	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:116356377G>C	ENST00000462403.1	+	1	612	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCCTGTCTGAGTCCCAGCC	0.622000													11	19					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													5	403					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742451	17742451	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:17742451T>C	ENST00000380060.3	+	5	1416	c.1078T>C	c.(1078-1080)Tgc>Cgc	p.C360R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.C204R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	360						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAGTATACGCTGCTCTCTGGT	0.433000													29	456					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837804	93837804	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:93837804A>T	ENST00000315765.9	+	16	2801	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	931	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTTTTTGGTATTTAATGAGA	0.373000													6	313					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:48467338A>T	ENST00000417961.1	+	7	784	c.574A>T	c.(574-576)Att>Ttt	p.I192F	SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358000													5	78					0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22354654	22354654	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:22354654A>T	ENST00000396037.4	-	5	1384	c.903T>A	c.(901-903)aaT>aaA	p.N301K	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.N158K	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	301					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCATGCATATTCACAGAGA	0.527000													34	58					0	0	1	0	0
APH1B	83464	broad.mit.edu	37	15	63579621	63579621	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:63579621A>T	ENST00000261879.5	+	4	425		c.e4-1		APH1B_ENST00000380343.4_Intron	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit						apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTCCTGTTTAGTTTCTGGCT	0.433000													5	310					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													26	504					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50518782	50518782	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:50518782G>T	ENST00000311597.5	-	4	918	c.312C>A	c.(310-312)aaC>aaA	p.N104K	MLC1_ENST00000395876.2_Missense_Mutation_p.N104K|MLC1_ENST00000538737.1_Missense_Mutation_p.N104K|MLC1_ENST00000450140.2_Intron|MLC1_ENST00000535444.1_Missense_Mutation_p.N25K|MLC1_ENST00000431262.2_Missense_Mutation_p.N74K	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	104						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCACATTGGCGTTCCTCCTGG	0.587000													7	4					0.000274275	0.000282586	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109746495	109746495	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:109746495C>T	ENST00000277225.5	+	10	7150	c.6861C>T	c.(6859-6861)tgC>tgT	p.C2287C	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Silent_p.C244C|ZNF462_ENST00000441147.2_Silent_p.C1193C|ZNF462_ENST00000457913.1_Silent_p.C2347C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2287					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C2287C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGAAGTTTGCCGGTCCAAAC	0.423000													4	294					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779079	93779079	+	Silent	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:93779079A>C	ENST00000315765.9	+	2	419	c.411A>C	c.(409-411)tcA>tcC	p.S137S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	137	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACAAAGATTCAGAAGGTAAAT	0.378000													41	92					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													12	217					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100515603	100515603	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:100515603C>T	ENST00000395209.3	+	24	3394	c.2867C>T	c.(2866-2868)gCc>gTc	p.A956V	DRP2_ENST00000541709.1_Missense_Mutation_p.A878V|DRP2_ENST00000538510.1_Missense_Mutation_p.A956V|DRP2_ENST00000402866.1_Missense_Mutation_p.A956V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	956					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACCCTGCTGGCCTCTTGATGG	0.537000													10	1177					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70694103	70694103	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:70694103A>T	ENST00000370950.3	+	3	285		c.e3-1		SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000454435.2_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						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			large_intestine(3)|ovary(2)|skin(1)	6						TTTATTTTTTAGTGATTCGCC	0.343000													5	111					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796304	57796304	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:57796304T>A	ENST00000309042.7	+	4	1594	c.1280T>A	c.(1279-1281)cTa>cAa	p.L427Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	427	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAGTGAAACTAAAGAAAACC	0.348000													5	113					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124799980	124799980	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:124799980A>T	ENST00000358776.4	+	4	317		c.e4-1		ACADSB_ENST00000496730.2_Splice_Site|ACADSB_ENST00000368869.4_Splice_Site	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain						branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TTTTTTCTTTAGTTGATGGGT	0.333000													4	35					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897078	11897078	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:11897078C>A	ENST00000346436.6	+	19	2055	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	CLCN6_ENST00000376496.3_Missense_Mutation_p.A668D|CLCN6_ENST00000376487.3_Missense_Mutation_p.A646D|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	668					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCCGGGCTGGCGAGCAG	0.587000													11	175					0.000673444	0.000691945	1	1	0
MFSD6	54842	broad.mit.edu	37	2	191362295	191362295	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:191362295T>A	ENST00000392328.1	+	7	2346	c.2022T>A	c.(2020-2022)acT>acA	p.T674T	MFSD6_ENST00000535751.1_Silent_p.T136T|MFSD6_ENST00000281416.7_Silent_p.T674T	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	674					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CCAAGAAAACTAAGCACCAGG	0.493000													6	250					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371724	34371724	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:34371724C>T	ENST00000297625.7	-	2	1341	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	406					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTCGCGCTCCACGCCCTCGC	0.677000													12	22					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	79					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:82935895A>T	ENST00000260047.6	+	6	1378		c.e6-1		ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site|ANKRD42_ENST00000393392.2_Splice_Site			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTCCTCTAGTTCACTTAG	0.333000													7	170					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027620	161027620	+	Missense_Mutation	SNP	T	T	C	rs41269892	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:161027620T>C	ENST00000447678.1	-	18	2794	c.2674A>G	c.(2674-2676)Agt>Ggt	p.S892G	LPA_ENST00000316300.5_Missense_Mutation_p.S892G	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3400	Kringle 8.				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)	CACCTGACACTGGGATCCCTC	0.522000													5	541					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57355950	57355950	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:57355950A>T	ENST00000267811.5	+	4	455	c.151A>T	c.(151-153)Att>Ttt	p.I51F	TCF12_ENST00000557843.1_Missense_Mutation_p.I51F|TCF12_ENST00000438423.2_Missense_Mutation_p.I51F|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Missense_Mutation_p.I51F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	51					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTTTTTAGGTATTGATGAAAG	0.353000			T	TEC	extraskeletal myxoid chondrosarcoma								9	266					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	AGCACCCCTGGCCAAGGTCAT	0.577000													6	68					1.12685e-05	1.16743e-05	1	1	0
EXTL2	2135	broad.mit.edu	37	1	101339515	101339515	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:101339515A>T	ENST00000370114.3	-	5	2412	c.976T>A	c.(976-978)Tac>Aac	p.Y326N	EXTL2_ENST00000535414.1_Missense_Mutation_p.Y313N|EXTL2_ENST00000370113.3_Missense_Mutation_p.Y326N	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	326					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTCTTTTGTAGTTGGCATAT	0.313000													6	97					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098577	92098577	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:92098577G>T	ENST00000493463.2	-	1	2042	c.1119C>A	c.(1117-1119)aaC>aaA	p.N373K	ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.N373K|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		373					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ctgctagggagttaagttgat	0.448000													22	67					3.8784e-16	4.15623e-16	1	1	0
FAM120B	84498	broad.mit.edu	37	6	170627090	170627090	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:170627090C>T	ENST00000476287.1	+	2	720	c.612C>T	c.(610-612)gtC>gtT	p.V204V	FAM120B_ENST00000537664.1_Silent_p.V227V|FAM120B_ENST00000540480.1_Silent_p.V216V|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	204					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGACACCGTCATGCTCTGCA	0.532000													34	80					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76906069	76906069	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:76906069G>T	ENST00000380887.2	+	2	445	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.A125S|ESRRB_ENST00000509242.1_Missense_Mutation_p.A125S|ESRRB_ENST00000556177.1_Missense_Mutation_p.A125S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGCTTGCAAGGCCTTCTTCAA	0.652000													9	142					1.12685e-05	1.16743e-05	1	1	0
TTC18	118491	broad.mit.edu	37	10	75037003	75037003	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:75037003C>G	ENST00000310715.3	-	22	2845	c.2725G>C	c.(2725-2727)Gtg>Ctg	p.V909L	TTC18_ENST00000401621.2_Missense_Mutation_p.V909L|TTC18_ENST00000394865.1_Missense_Mutation_p.V909L|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.V378L|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	909							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGACCTGCACAGCCTTGACT	0.393000													3	121					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427425	27427425	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:27427425A>T	ENST00000295736.5	-	23	3493	c.3423T>A	c.(3421-3423)agT>agA	p.S1141R	SLC4A7_ENST00000388777.4_Missense_Mutation_p.S691R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S1150R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S1137R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S1026R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S1017R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S1022R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S1133R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1141						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						tctttttcttactttctGGCA	0.323000													9	80					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337962	41337962	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:41337962G>T	ENST00000551295.2	+	14	1790	c.1673G>T	c.(1672-1674)aGg>aTg	p.R558M	CNTN1_ENST00000547849.1_Missense_Mutation_p.R558M|CNTN1_ENST00000360099.3_Missense_Mutation_p.R558M|CNTN1_ENST00000547702.1_Missense_Mutation_p.R558M|CNTN1_ENST00000348761.2_Missense_Mutation_p.R547M|CNTN1_ENST00000347616.1_Missense_Mutation_p.R558M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	558	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CACTACCAGAGGAATTTTATG	0.358000													5	64					0.014758	0.0151219	1	1	0
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000357948.3_Splice_Site|CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000462768.1_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368000													5	130					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116925320	116925320	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:116925320A>T	ENST00000355044.3	+	7	1133	c.1007A>T	c.(1006-1008)tAc>tTc	p.Y336F	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	336						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTTTAGTTACAATTTAGAA	0.338000													4	106					0	0	1	0	0
WDR5	11091	broad.mit.edu	37	9	137007540	137007540	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:137007540G>A	ENST00000358625.3	+	6	611	c.440G>A	c.(439-441)gGa>gAa	p.G147E	WDR5_ENST00000425041.1_Missense_Mutation_p.G147E	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	147					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATTGTCTCAGGATCCGTAAGT	0.502000													7	27					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94039103	94039103	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:94039103A>T	ENST00000553484.1	+	16	2165	c.2011A>T	c.(2011-2013)Agt>Tgt	p.S671C	UNC79_ENST00000256339.4_Missense_Mutation_p.S494C|UNC79_ENST00000393151.2_Missense_Mutation_p.S671C|UNC79_ENST00000555664.1_Missense_Mutation_p.S671C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	671						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGTTTTATTAGTTGTCGGTT	0.398000													5	425					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388000													7	96					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K|AFF2_ENST00000342251.3_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTCTAATACACAGCAAC	0.453000													9	817					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:98887143A>T	ENST00000477737.1	+	22	3047		c.e22-1		VWA3B_ENST00000490947.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						tttgtttTTTAGGTTAGATGC	0.318000													5	91					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171609	150171609	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:150171609G>C	ENST00000307271.3	+	4	1766	c.1192G>C	c.(1192-1194)Gcc>Ccc	p.A398P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	398						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGATATAGTGCCTTCAACTA	0.443000													99	380					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39281850	39281850	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:39281850T>G	ENST00000426016.1	-	6	711	c.625A>C	c.(625-627)Atg>Ctg	p.M209L	SOS1_ENST00000402219.2_Missense_Mutation_p.M209L|SOS1_ENST00000428721.2_Missense_Mutation_p.M152L|SOS1_ENST00000395038.2_Missense_Mutation_p.M209L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	209	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTCTGCCATAAATGCTTTT	0.308000									Noonan syndrome				4	27					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137237186	137237186	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:137237186C>A	ENST00000453654.1	-	20	1715	c.1176G>T	c.(1174-1176)cgG>cgT	p.R392R	DGKI_ENST00000446122.1_Silent_p.R692R|DGKI_ENST00000288490.5_Silent_p.R692R|DGKI_ENST00000424189.2_Silent_p.R692R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	692	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCAGGGAGATCCGAATCATAG	0.502000													42	629					3.4345e-17	3.6911e-17	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41337895	41337895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:41337895C>T	ENST00000551295.2	+	14	1723	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	CNTN1_ENST00000547849.1_Missense_Mutation_p.L536F|CNTN1_ENST00000360099.3_Missense_Mutation_p.L536F|CNTN1_ENST00000547702.1_Missense_Mutation_p.L536F|CNTN1_ENST00000348761.2_Missense_Mutation_p.L525F|CNTN1_ENST00000347616.1_Missense_Mutation_p.L536F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	536	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCCTTGGATCTCACATTTGT	0.403000													17	141					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41825575	41825575	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:41825575C>T	ENST00000269967.3	+	3	721	c.599C>T	c.(598-600)gCc>gTc	p.A200V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	200										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GAGCTCAGTGCCCGCACCCCA	0.652000													4	222					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216283	111216283	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:111216283C>A	ENST00000369769.2	-	1	1372	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	383						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATCTGCAGCCCCTTGGAGT	0.587000													10	377					1.05317e-09	1.10642e-09	1	1	0
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:52394736T>C	ENST00000354957.3	-	5	937	c.653A>G	c.(652-654)aAg>aGg	p.K218R	ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACTTCTTGTAGAA	0.483000													5	320					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930359	46930359	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:46930359A>T	ENST00000264318.3	-	9	2530	c.1548T>A	c.(1546-1548)agT>agA	p.S516R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	516			S -> R (in a breast cancer sample; somatic mutation).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTCTATTTTACTTGTGCCAG	0.428000													8	149					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163215557	163215557	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:163215557A>T	ENST00000437150.2	+	6	619	c.458A>T	c.(457-459)tAt>tTt	p.Y153F	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.Y134F	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	153	EF-hand 3.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TTTTTAGGTTATAGGTTGAGT	0.289000													8	107					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	372					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308000								Rad6 pathway					4	61					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130400403	130400403	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:130400403C>G	ENST00000356763.3	-	17	4197	c.3640G>C	c.(3640-3642)Gac>Cac	p.D1214H	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1214					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTCTCCATGTCCCACATGGAC	0.423000													16	201					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358000													6	104					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383000													8	214					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138856966	138856966	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:138856966A>T	ENST00000370557.1	-	19	3126	c.2099T>A	c.(2098-2100)cTa>cAa	p.L700Q	ATP11C_ENST00000361648.2_Missense_Mutation_p.L703Q|ATP11C_ENST00000359686.2_Missense_Mutation_p.L703Q|ATP11C_ENST00000370543.1_Missense_Mutation_p.L703Q|ATP11C_ENST00000327569.3_Missense_Mutation_p.L703Q|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	703					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTTGTGGTTAGTTCTAAGAG	0.423000													7	532					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													5	87					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149349	129149349	+	Silent	SNP	G	G	A	rs147051252	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:129149349G>A	ENST00000540052.1	+	3	2645	c.2601G>A	c.(2599-2601)tcG>tcA	p.S867S	BCORL1_ENST00000303743.5_Silent_p.S867S|BCORL1_ENST00000218147.7_Silent_p.S867S|BCORL1_ENST00000359304.2_Silent_p.S867S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	867					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCGTTGTTTCGGAGTTTTCTG	0.642000													4	79					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552757	43552757	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:43552757C>A	ENST00000220420.5	-	2	38	c.31G>T	c.(31-33)Gac>Tac	p.D11Y	TGM5_ENST00000349114.4_Missense_Mutation_p.D11Y	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	11					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCTGGAGGTCTGTGAGGGCC	0.562000													104	225					1.66635e-27	1.80642e-27	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27097703	27097703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:27097703C>T	ENST00000324856.7	+	12	3663	c.3292C>T	c.(3292-3294)Cag>Tag	p.Q1098*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q715*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1098*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1098	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGTATATCCAGTGTCTCTA	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	133					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303000									Hermansky-Pudlak syndrome				5	112					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100524220	100524220	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:100524220A>T	ENST00000370152.3	+	3	316		c.e3-1		RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1						transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTATTCTTTAGGTATTACAT	0.274000													8	88					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098148	50098148	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:50098148C>A	ENST00000418929.2	+	4	568	c.556C>A	c.(556-558)Cat>Aat	p.H186N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	598	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGTCCCCTCATGACGTGCT	0.687000													5	7					0.217242	0.218999	1	1	0
OR14C36	127066	broad.mit.edu	37	1	248512174	248512174	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:248512174A>T	ENST00000317861.1	+	1	98	c.98A>T	c.(97-99)tAt>tTt	p.Y33F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTTATGTTGTATTTGGTAACT	0.443000													6	386					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:23180386A>T	ENST00000322231.7	+	6	866		c.e6-1		KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318000													8	114					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43529671	43529671	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:43529671G>A	ENST00000400427.1	+	10	1699		c.e10-1		UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408910.2_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCCTGGCAGACTGGGACGA	0.577000													29	73					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724403	49724403	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:49724403A>G	ENST00000551245.1	+	13	1886	c.1775A>G	c.(1774-1776)tAc>tGc	p.Y592C	TROAP_ENST00000547923.1_Intron|TROAP_ENST00000257909.3_Missense_Mutation_p.Y592C			Q12815	TROAP_HUMAN	trophinin associated protein	592	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTAGAGTCCTACTGTAGGATT	0.617000													6	247					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118981555	118981555	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:118981555A>T	ENST00000336702.3	+	4	929		c.e4-1			NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCCTGTCTGTAGTTGGAAGTC	0.527000													9	472					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408000													13	292					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582703	82582703	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:82582703A>T	ENST00000423517.2	-	5	7903	c.7566T>A	c.(7564-7566)acT>acA	p.T2522T	PCLO_ENST00000333891.8_Silent_p.T2522T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2453					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						GTTTTTGTGTAGTTGTTGGAA	0.423000													7	164					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42819403A>T	ENST00000598766.1	+	7	641	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	190						integral to membrane		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537000													6	283					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24888786	24888786	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:24888786T>A	ENST00000405141.1	+	7	967		c.e7+2		NCOA1_ENST00000348332.3_Splice_Site|NCOA1_ENST00000288599.5_Splice_Site|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000406961.1_Splice_Site|NCOA1_ENST00000538539.1_Splice_Site|NCOA1_ENST00000395856.3_Splice_Site			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1										PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAACAAGGTAAAAAAGAAA	0.274000			T	PAX3	alveolar rhadomyosarcoma								4	115					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATTGTTAGTTACACAAC	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	163					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122859	39122859	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:39122859C>T	ENST00000355612.2	-	1	285	c.250G>A	c.(250-252)Gac>Aac	p.D84N	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	84	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGCTGCAGTCATCCAGAGAA	0.498000													79	742					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612702	152612702	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:152612702G>A	ENST00000421401.3	+	4	736	c.559G>A	c.(559-561)Gga>Aga	p.G187R	ZNF275_ENST00000370249.2_Missense_Mutation_p.G134R|ZNF275_ENST00000440091.1_Missense_Mutation_p.G217R|ZNF275_ENST00000370251.2_Missense_Mutation_p.G187R	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	187						intracellular	nucleic acid binding|zinc ion binding	p.G134R(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGAGTGCGGAAAACGGTT	0.602000													4	337					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26906772	26906772	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:26906772C>T	ENST00000321765.5	-	17	3213	c.2881G>A	c.(2881-2883)Gca>Aca	p.A961T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	961					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCCTAACCTGCGGGCTGAAGG	0.478000													5	532					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715254	53715254	+	Splice_Site	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:53715254C>T	ENST00000549983.1	-	1	146		c.e1+1		AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_5'UTR|AAAS_ENST00000209873.4_5'UTR			Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia						carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GCACATCTTGCCGGTTCGCAG	0.607000											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	292					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:183495733A>T	ENST00000367537.3	+	6	597	c.402A>T	c.(400-402)ttA>ttT	p.L134F	SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348000													6	105					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13865955	13865955	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:13865955C>A	ENST00000265104.4	-	27	4281	c.4177G>T	c.(4177-4179)Ggc>Tgc	p.G1393C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1393	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)					GCTGGCAGGCCAAAAAGCTCC	0.333000									Kartagener syndrome				23	30					0.01892	0.0193336	1	1	0
TARS	6897	broad.mit.edu	37	5	33467663	33467663	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:33467663A>T	ENST00000265112.3	+	19	2334		c.e19-1		TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000455217.2_Splice_Site|TARS_ENST00000502553.1_Splice_Site	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase						threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGTTTGTTTTAGTTGTTGGTG	0.408000													5	65					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	107					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716132	8716132	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:8716132A>T	ENST00000337907.3	-	3	859	c.225T>A	c.(223-225)aaT>aaA	p.N75K	RERE_ENST00000400907.2_Missense_Mutation_p.N75K|RERE_ENST00000400908.2_Missense_Mutation_p.N75K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	75					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTTCTTCTTATTCTTCTTCG	0.448000													12	1135					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9305466	9305466	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:9305466C>G	ENST00000261336.2	-	31	4103	c.4075G>C	c.(4075-4077)Gat>Cat	p.D1359H	PZP_ENST00000381997.2_Missense_Mutation_p.D1145H	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.D1359N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGTGTCCATCGCAAGTTTGG	0.433000													75	205					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	74					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001402	95001402	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:95001402A>G	ENST00000357742.4	+	19	2287	c.2287A>G	c.(2287-2289)Atg>Gtg	p.M763V	MCTP2_ENST00000451018.3_Missense_Mutation_p.M708V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	763					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAATCTATATGGTACAGGA	0.318000													27	39					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61908398	61908398	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:61908398T>C	ENST00000394818.3	+	10	1677	c.1475T>C	c.(1474-1476)cTc>cCc	p.L492P	INCENP_ENST00000278849.4_Missense_Mutation_p.L492P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	492					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTACGGCCCCTCCGGACCTTT	0.632000													10	44					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19259497	19259497	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:19259497G>A	ENST00000527884.1	-	3	430	c.198C>T	c.(196-198)ctC>ctT	p.L66L	E2F8_ENST00000250024.4_Silent_p.L66L|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	66					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCACTGATGAGCATTTTCA	0.517000													29	299					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132962214	132962214	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:132962214A>T	ENST00000254624.5	+	5	591		c.e5-1		EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGTTTTTTAGTTTGTCAAA	0.308000													4	34					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027645	161027645	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:161027645G>A	ENST00000447678.1	-	18	2769	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	LPA_ENST00000316300.5_Silent_p.A883A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3391	Kringle 8.				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)	AACAATAAGGGGCTGCCACAG	0.517000													5	531					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303264	153303264	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:153303264G>C	ENST00000368739.3	-	9	1447	c.1089C>G	c.(1087-1089)acC>acG	p.T363T	PGLYRP4_ENST00000359650.5_Silent_p.T367T			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	367					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			AATGAGGCCAGGTGCTGATGA	0.552000													129	298					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473000													5	78					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987783	182987783	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:182987783A>G	ENST00000326505.3	+	2	727	c.197A>G	c.(196-198)cAc>cGc	p.H66R	B3GNT5_ENST00000465010.1_Missense_Mutation_p.H66R|B3GNT5_ENST00000460419.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	66					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCTCTTAAGCACACCTCAGCG	0.408000													54	140					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144811267	144811267	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:144811267C>T	ENST00000367545.3	+	30	4195	c.4195C>T	c.(4195-4197)Cgt>Tgt	p.R1399C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1399	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGAAATATGCGTTCTCAGCC	0.468000													3	144					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:133948799A>T	ENST00000445123.1	+	3	274		c.e3-1		FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338000													17	165					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542000													4	379					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373000													8	230					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40568618	40568618	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:40568618A>T	ENST00000342449.3	-	41	6455	c.6377T>A	c.(6376-6378)gTa>gAa	p.V2126E	BRWD1_ENST00000380800.3_Missense_Mutation_p.V2126E|BRWD1_ENST00000333229.2_Missense_Mutation_p.V2126E	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCCTTTTTACTTCCTTCTC	0.403000													6	180					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5808591	5808591	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:5808591G>C	ENST00000380191.4	-	9	1292	c.1002C>G	c.(1000-1002)gtC>gtG	p.V334V	GDI2_ENST00000380132.4_Silent_p.V338V|GDI2_ENST00000380181.3_Silent_p.V289V|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	334					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AGATCATGCAGACGTAGATAT	0.453000													10	120					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61335450	61335450	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:61335450A>T	ENST00000402291.1	+	15	1852		c.e15-1		KIAA1841_ENST00000453873.1_Splice_Site|KIAA1841_ENST00000356719.2_Splice_Site|KIAA1841_ENST00000295031.5_Splice_Site	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCTGTCTTGTAGTTCTTGTCA	0.303000													5	87					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853894	51853894	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:51853894T>A	ENST00000453097.2	+	8	1230		c.e8+2		SLC4A8_ENST00000535225.2_Splice_Site|SLC4A8_ENST00000514353.3_Splice_Site|SLC4A8_ENST00000394856.1_Splice_Site|SLC4A8_ENST00000358657.3_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8						bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCCAACAAGGTAAAGGCAAAG	0.383000													7	518					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516411	102516411	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:102516411T>G	ENST00000360184.4	+	77	13852	c.13688T>G	c.(13687-13689)tTg>tGg	p.L4563W	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4563					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACAGGTTTGAAACTTCAA	0.587000													110	170					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71591418	71591418	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:71591418T>A	ENST00000261413.5	-	4	262		c.e4-2		MRPS27_ENST00000522095.1_Splice_Site|MRPS27_ENST00000515404.1_Splice_Site|MRPS27_ENST00000513900.1_Splice_Site|MRPS27_ENST00000457646.4_Splice_Site	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27							mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GTCTATAAGCTAAAAGACAGA	0.358000													4	109					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106772092	106772092	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:106772092G>C	ENST00000228347.4	+	8	766	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.E124Q	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	182					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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.E182*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTATCCAAGAGCAGCTGTC	0.418000													25	122					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120388454	120388454	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:120388454G>T	ENST00000602047.1	+	20	2205	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PCDP1_ENST00000413369.3_Missense_Mutation_p.D651Y			Q4G0U5	PCDP1_HUMAN		651						cilium	calmodulin binding					Colorectal(110;0.196)					CATGTCTCTAGATTATGATCC	0.443000													122	454					2.03726e-86	2.28388e-86	1	1	0
MLC1	23209	broad.mit.edu	37	22	50518782	50518782	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr22:50518782G>T	ENST00000311597.5	-	4	918	c.312C>A	c.(310-312)aaC>aaA	p.N104K	MLC1_ENST00000431262.2_Missense_Mutation_p.N74K|MLC1_ENST00000395876.2_Missense_Mutation_p.N104K|MLC1_ENST00000535444.1_Missense_Mutation_p.N25K|MLC1_ENST00000538737.1_Missense_Mutation_p.N104K|MLC1_ENST00000450140.2_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	104						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCACATTGGCGTTCCTCCTGG	0.587000													7	4					0.000274275	0.000286375	1	1	0
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:146244777A>T	ENST00000367503.3	-	18	3971		c.e18+1		SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site|SHPRH_ENST00000438092.2_Splice_Site	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323000													4	77					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42598262	42598262	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr21:42598262A>T	ENST00000330333.6	+	2	845	c.382A>T	c.(382-384)Acg>Tcg	p.T128S	BACE2_ENST00000328735.6_Missense_Mutation_p.T128S|BACE2_ENST00000347667.4_Missense_Mutation_p.T128S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	128					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CTACATAGACACGTACTTTGA	0.488000													47	145					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8629914	8629914	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:8629914A>T	ENST00000382073.3	+	6	671		c.e6-1			NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A						defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTTTTCCTTTAGATTTTGGCA	0.403000													5	270					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724196	140724196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:140724196C>T	ENST00000253812.6	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.A199V(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGCGGGCCCTGGACCGT	0.542000													36	139					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779079	93779079	+	Silent	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:93779079A>C	ENST00000315765.9	+	2	419	c.411A>C	c.(409-411)tcA>tcC	p.S137S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	137	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACAAAGATTCAGAAGGTAAAT	0.378000													41	92					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102445654	102445654	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:102445654A>T	ENST00000360184.4	+	3	508		c.e3-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTTCTTTTTAGCTTGGCATT	0.358000													5	112					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49840543	49840543	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:49840543A>G	ENST00000376088.3	+	7	1150	c.509A>G	c.(508-510)cAt>cGt	p.H170R	CLCN5_ENST00000376091.3_Missense_Mutation_p.H170R|CLCN5_ENST00000307367.2_Missense_Mutation_p.H100R|CLCN5_ENST00000376108.3_Missense_Mutation_p.H100R	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	100					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AACCATGAACATTGTTGCTGG	0.428000													8	357					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637000													7	1170					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467916	50467916	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:50467916C>T	ENST00000331340.3	+	8	1306	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.S154L|IKZF1_ENST00000439701.1_Missense_Mutation_p.S342L|IKZF1_ENST00000349824.4_Missense_Mutation_p.S241L|IKZF1_ENST00000438033.1_Missense_Mutation_p.S297L|IKZF1_ENST00000357364.4_Missense_Mutation_p.S297L|IKZF1_ENST00000343574.5_Missense_Mutation_p.S297L|IKZF1_ENST00000359197.5_Missense_Mutation_p.S342L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	384					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)|p.S384*(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TTGGTGCCCTCGGAGCGCGAG	0.667000			"""D,T"""	BCL6	"""ALL, DLBCL"""								11	43					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6826207	6826207	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:6826207G>A	ENST00000307659.5	+	3	482	c.27G>A	c.(25-27)gtG>gtA	p.V9V	KIAA0232_ENST00000425103.1_Silent_p.V9V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	9							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAGTTGTTGTGGATGGTTTGC	0.453000													4	265					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70694103	70694103	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:70694103A>T	ENST00000370950.3	+	3	285		c.e3-1		SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000454435.2_Splice_Site|SRSF11_ENST00000436161.2_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						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			large_intestine(3)|ovary(2)|skin(1)	6						TTTATTTTTTAGTGATTCGCC	0.343000													5	111					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003124	16003124	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:16003124T>C	ENST00000221700.5	-	5	615	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	CYP4F2_ENST00000592328.1_Missense_Mutation_p.M174V|CYP4F2_ENST00000011989.7_Missense_Mutation_p.M25V	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	174					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCACGTGCATGATGTTCACA	0.502000													4	548					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796304	57796304	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:57796304T>A	ENST00000309042.7	+	4	1594	c.1280T>A	c.(1279-1281)cTa>cAa	p.L427Q		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	427	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAGTGAAACTAAAGAAAACC	0.348000													5	113					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405198	135405198	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:135405198G>A	ENST00000394143.1	+	5	623	c.332G>A	c.(331-333)cGt>cAt	p.R111H	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.R48H|GPR112_ENST00000370652.1_Missense_Mutation_p.R111H|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	111					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTATCCGTCACCACCTG	0.433000													8	876					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428000													7	155					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191362295	191362295	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:191362295T>A	ENST00000392328.1	+	7	2346	c.2022T>A	c.(2020-2022)acT>acA	p.T674T	MFSD6_ENST00000281416.7_Silent_p.T674T|MFSD6_ENST00000535751.1_Silent_p.T136T	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	674					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CCAAGAAAACTAAGCACCAGG	0.493000													6	250					0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46198653	46198653	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:46198653A>C	ENST00000393405.2	+	8	950	c.596A>C	c.(595-597)gAa>gCa	p.E199A	SNX11_ENST00000452859.2_Missense_Mutation_p.E55A|SNX11_ENST00000582104.1_Missense_Mutation_p.E191A|SNX11_ENST00000580219.1_Missense_Mutation_p.E191A|SNX11_ENST00000439357.2_Missense_Mutation_p.E138A|SNX11_ENST00000359238.2_Missense_Mutation_p.E199A	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	199					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CCTCCCAGTGAAGAAAAGGAC	0.507000													28	271					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75827250	75827250	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:75827250A>T	ENST00000322507.8	-	47	7676	c.7367T>A	c.(7366-7368)tTt>tAt	p.F2456Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.F2456Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.F1292Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2456	Nonhelical region (NC3).|VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCAACTACAAAGACACTGAA	0.393000													35	84					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371724	34371724	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:34371724C>T	ENST00000297625.7	-	2	1341	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	406					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCTCGCGCTCCACGCCCTCGC	0.677000													12	22					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724672	113724672	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:113724672A>T	ENST00000295878.3	-	10	1697	c.1551T>A	c.(1549-1551)aaT>aaA	p.N517K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGTGCTGCTTATTGCCAGGTG	0.542000													6	332					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99801731	99801731	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:99801731C>T	ENST00000426455.1	+	26	3195	c.2788C>T	c.(2788-2790)Ctg>Ttg	p.L930L	STAG3_ENST00000317296.5_Silent_p.L930L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Silent_p.L872L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	930					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCTGCTGCTGAGCCTCAA	0.498000													88	226					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													7	116					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68389676	68389676	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:68389676A>T	ENST00000263657.2	+	5	593		c.e5-1			NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)							nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						TTTCTTGTTTAGTTAAACCCC	0.403000													4	91					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100515603	100515603	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:100515603C>T	ENST00000395209.3	+	24	3394	c.2867C>T	c.(2866-2868)gCc>gTc	p.A956V	DRP2_ENST00000538510.1_Missense_Mutation_p.A956V|DRP2_ENST00000541709.1_Missense_Mutation_p.A878V|DRP2_ENST00000402866.1_Missense_Mutation_p.A956V	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	956					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACCCTGCTGGCCTCTTGATGG	0.537000													10	1177					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24745112	24745112	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:24745112C>A	ENST00000379068.3	+	14	1498	c.1455C>A	c.(1453-1455)acC>acA	p.T485T	POLA1_ENST00000379059.3_Silent_p.T479T|POLA1_ENST00000493342.1_3'UTR			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	479					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TATTTGGGACCAACACATCTA	0.358000													5	80					0.307466	0.31038	1	1	0
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11							cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348000													4	58					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12278312	12278312	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:12278312C>T	ENST00000261349.4	-	21	4443	c.4367G>A	c.(4366-4368)aGt>aAt	p.S1456N	LRP6_ENST00000543091.1_Missense_Mutation_p.S1411N|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1456					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGGGGGTCCACTGCTTCCCCC	0.433000													21	197					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150398270	150398270	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:150398270G>T	ENST00000295910.6	-	9	1148	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	FAM194A_ENST00000491361.1_Missense_Mutation_p.H220N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	366										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAGAGAAATGAGTCTGTTCC	0.383000													71	241					1.84514e-49	2.05767e-49	1	1	0
ERVW-1	30816	broad.mit.edu	37	7	92098577	92098577	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:92098577G>T	ENST00000493463.2	-	1	2042	c.1119C>A	c.(1117-1119)aaC>aaA	p.N373K	ERVW-1_ENST00000603053.1_Missense_Mutation_p.N373K|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		373					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ctgctagggagttaagttgat	0.448000													22	67					3.8784e-16	4.17222e-16	1	1	0
FAM120B	84498	broad.mit.edu	37	6	170627090	170627090	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:170627090C>T	ENST00000476287.1	+	2	720	c.612C>T	c.(610-612)gtC>gtT	p.V204V	FAM120B_ENST00000540480.1_Silent_p.V216V|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Silent_p.V227V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	204					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGGACACCGTCATGCTCTGCA	0.532000													34	80					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179994847	179994847	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:179994847A>T	ENST00000393356.1	+	11	1296		c.e11-1		CNOT6_ENST00000261951.4_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTGTTTTAGATTTACTTT	0.403000													5	127					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6029494	6029494	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:6029494C>G	ENST00000265849.7	-	10	1186	c.1081G>C	c.(1081-1083)Gga>Cga	p.G361R	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.G255R|PMS2_ENST00000406569.3_Missense_Mutation_p.G361R	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	361					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAAACATTCCTATCAAAGAG	0.373000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	113					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531591	190531591	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:190531591A>T	ENST00000260952.4	+	4	1146	c.733A>T	c.(733-735)Aat>Tat	p.N245Y	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	245					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGTTCCTTTAAATATGATGTT	0.378000													5	244					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19259497	19259497	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:19259497G>A	ENST00000527884.1	-	3	430	c.198C>T	c.(196-198)ctC>ctT	p.L66L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L66L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	66					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCACTGATGAGCATTTTCA	0.517000													29	299					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75037003	75037003	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:75037003C>G	ENST00000310715.3	-	22	2845	c.2725G>C	c.(2725-2727)Gtg>Ctg	p.V909L	TTC18_ENST00000355577.3_Missense_Mutation_p.V378L|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.V909L|TTC18_ENST00000394865.1_Missense_Mutation_p.V909L|TTC18_ENST00000493787.1_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	909							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGACCTGCACAGCCTTGACT	0.393000													3	121					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007593	93007593	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:93007593G>A	ENST00000268164.3	+	6	1343	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G348D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	369					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGACTGTCGGCCAGTGCGAT	0.602000													5	530					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921210	12921210	+	Missense_Mutation	SNP	G	G	A	rs141943881	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:12921210G>A	ENST00000240189.2	+	4	1088	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	334										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTTCCGCATCAGTCTT	0.507000													6	969					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337962	41337962	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:41337962G>T	ENST00000551295.2	+	14	1790	c.1673G>T	c.(1672-1674)aGg>aTg	p.R558M	CNTN1_ENST00000547849.1_Missense_Mutation_p.R558M|CNTN1_ENST00000348761.2_Missense_Mutation_p.R547M|CNTN1_ENST00000547702.1_Missense_Mutation_p.R558M|CNTN1_ENST00000347616.1_Missense_Mutation_p.R558M|CNTN1_ENST00000360099.3_Missense_Mutation_p.R558M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	558	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CACTACCAGAGGAATTTTATG	0.358000													5	64					0.014758	0.0153339	1	1	0
ZFAND2A	90637	broad.mit.edu	37	7	1197388	1197388	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:1197388T>A	ENST00000401903.1	-	3	315		c.e3-2		ZFAND2A_ENST00000316495.3_Splice_Site			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A							cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAAGAAAATCTAAAAAACAAA	0.343000													5	192					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298004	4298004	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:4298004T>C	ENST00000301272.2	-	2	430	c.385A>G	c.(385-387)Aca>Gca	p.T129A	TMIGD2_ENST00000595645.1_Missense_Mutation_p.T129A|TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	129	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGCCTTGTTATGTTGCCC	0.587000													19	78					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26906772	26906772	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:26906772C>T	ENST00000321765.5	-	17	3213	c.2881G>A	c.(2881-2883)Gca>Aca	p.A961T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	961					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCCTAACCTGCGGGCTGAAGG	0.478000													5	532					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104160223	104160223	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:104160223G>T	ENST00000369966.3	+	16	2023	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	NFKB2_ENST00000189444.6_Missense_Mutation_p.Q591H|NFKB2_ENST00000428099.1_Missense_Mutation_p.Q591H	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	591					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.Q591H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CTGTGCCCCAGCTGTTGCATA	0.632000			T	IGH@	B-NHL								8	55					0.000157383	0.000165136	1	1	0
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000357948.3_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368000													5	130					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116925320	116925320	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:116925320A>T	ENST00000355044.3	+	7	1133	c.1007A>T	c.(1006-1008)tAc>tTc	p.Y336F	ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	336						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTTTAGTTACAATTTAGAA	0.338000													4	106					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109746495	109746495	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:109746495C>T	ENST00000277225.5	+	10	7150	c.6861C>T	c.(6859-6861)tgC>tgT	p.C2287C	ZNF462_ENST00000441147.2_Silent_p.C1193C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.C2347C|ZNF462_ENST00000542028.1_Silent_p.C244C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2287					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C2287C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTGAAGTTTGCCGGTCCAAAC	0.423000													4	294					0	0	1	0	0
WDR5	11091	broad.mit.edu	37	9	137007540	137007540	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:137007540G>A	ENST00000358625.3	+	6	611	c.440G>A	c.(439-441)gGa>gAa	p.G147E	WDR5_ENST00000425041.1_Missense_Mutation_p.G147E	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	147					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATTGTCTCAGGATCCGTAAGT	0.502000													7	27					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637000													17	62					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570154	241570154	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:241570154G>A	ENST00000319838.5	+	6	1727	c.785G>A	c.(784-786)aGc>aAc	p.S262N	GPR35_ENST00000430267.1_Missense_Mutation_p.S262N|GPR35_ENST00000403859.1_Missense_Mutation_p.S262N|GPR35_ENST00000438013.2_Missense_Mutation_p.S293N|GPR35_ENST00000407714.1_Missense_Mutation_p.S262N	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	262						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TACATAACCAGCAAGCTCTCA	0.632000													4	115					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267218	124267218	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:124267218A>T	ENST00000395571.3	-	3	1586	c.969T>A	c.(967-969)taT>taA	p.Y323*	ZHX1_ENST00000297857.2_Nonsense_Mutation_p.Y323*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Nonsense_Mutation_p.Y323*	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	323	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTCCTCTGTATATTTTGCTT	0.398000													6	430					0	0	1	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12921170	12921170	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:12921170G>C	ENST00000221486.4	+	6	683	c.589G>C	c.(589-591)Gag>Cag	p.E197Q		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	197					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCAGTTCGTGGAGAAACTGCA	0.567000													75	153					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701613	62701613	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:62701613G>A	ENST00000361317.2	+	8	879	c.436_splice	c.e8-1	p.C146_splice	TCEA2_ENST00000343484.5_Splice_Site_p.C173_splice|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	173	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACTTGCACGCATCTTCCGG	0.582000											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	119					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47008758	47008758	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:47008758G>A	ENST00000395460.2	+	2	84		c.e2-1		C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000278460.7_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TTTGATTGCAGCTCAGCGACA	0.428000													5	298					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176520544	176520544	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:176520544C>G	ENST00000292408.4	+	10	1634	c.1389C>G	c.(1387-1389)ccC>ccG	p.P463P	FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000502906.1_Silent_p.P463P|FGFR4_ENST00000393637.1_Silent_p.P423P|FGFR4_ENST00000292410.3_Silent_p.P423P	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	463					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GGGAGTTCCCCCGGGACAGGT	0.682000										TSP Lung(9;0.080)			8	534					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171609	150171609	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:150171609G>C	ENST00000307271.3	+	4	1766	c.1192G>C	c.(1192-1194)Gcc>Ccc	p.A398P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	398						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGATATAGTGCCTTCAACTA	0.443000													99	380					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39281850	39281850	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:39281850T>G	ENST00000426016.1	-	6	711	c.625A>C	c.(625-627)Atg>Ctg	p.M209L	SOS1_ENST00000395038.2_Missense_Mutation_p.M209L|SOS1_ENST00000402219.2_Missense_Mutation_p.M209L|SOS1_ENST00000428721.2_Missense_Mutation_p.M152L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	209	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTCTGCCATAAATGCTTTT	0.308000									Noonan syndrome				4	27					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119203321	119203321	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:119203321C>T	ENST00000296498.3	-	13	2680	c.2398G>A	c.(2398-2400)Ggt>Agt	p.G800S		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	800	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GTAAACCGACCCTTATAACGT	0.478000													4	487					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48209468	48209468	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:48209468G>C	ENST00000298396.2	-	6	472	c.420C>G	c.(418-420)tgC>tgG	p.C140W	SSX3_ENST00000376895.1_Missense_Mutation_p.C52W|SSX3_ENST00000376893.3_Missense_Mutation_p.C140W	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TTCCCGGGGGGCACAGCTGTT	0.488000													6	473					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													12	217					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32686368	32686368	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:32686368A>T	ENST00000374980.2	-	4	590	c.369T>A	c.(367-369)aaT>aaA	p.N123K		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	123						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCTTCTTTTTATTGCCAAGCA	0.368000													7	183					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122859	39122859	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:39122859C>T	ENST00000355612.2	-	1	285	c.250G>A	c.(250-252)Gac>Aac	p.D84N	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	84	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGCTGCAGTCATCCAGAGAA	0.498000													79	742					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1721888	1721888	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:1721888T>G	ENST00000378609.4	-	9	976	c.645A>C	c.(643-645)gaA>gaC	p.E215D		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	215					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCACATGCCTTCTCGCACAT	0.567000													57	119					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137237186	137237186	+	Silent	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:137237186C>A	ENST00000453654.1	-	20	1715	c.1176G>T	c.(1174-1176)cgG>cgT	p.R392R	DGKI_ENST00000288490.5_Silent_p.R692R|DGKI_ENST00000446122.1_Silent_p.R692R|DGKI_ENST00000424189.2_Silent_p.R692R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	692	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCAGGGAGATCCGAATCATAG	0.502000													42	629					3.4345e-17	3.71344e-17	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41337895	41337895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:41337895C>T	ENST00000551295.2	+	14	1723	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	CNTN1_ENST00000547849.1_Missense_Mutation_p.L536F|CNTN1_ENST00000348761.2_Missense_Mutation_p.L525F|CNTN1_ENST00000547702.1_Missense_Mutation_p.L536F|CNTN1_ENST00000347616.1_Missense_Mutation_p.L536F|CNTN1_ENST00000360099.3_Missense_Mutation_p.L536F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	536	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCCTTGGATCTCACATTTGT	0.403000													17	141					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78362323	78362323	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:78362323C>G	ENST00000397909.2	+	5	685	c.512C>G	c.(511-513)gCc>gGc	p.A171G	NAV3_ENST00000266692.7_Missense_Mutation_p.A171G|NAV3_ENST00000536525.2_Missense_Mutation_p.A171G|NAV3_ENST00000228327.6_Missense_Mutation_p.A171G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	171	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACTTAAAAGCCATTCTAGGG	0.333000										HNSCC(70;0.22)			11	17					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32365941	32365941	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr13:32365941A>T	ENST00000298386.2	+	15	1216		c.e15-1		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2							integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTTGACTTTAGTTATTTCAA	0.433000													4	102					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31019246	31019246	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:31019246C>G	ENST00000375687.4	+	9	1265	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	ASXL1_ENST00000306058.5_Missense_Mutation_p.Q276E	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	281					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATCACACTTCCAGCAGCAGCT	0.527000			"""F, N, Mis"""		"""MDS, CMML"""								17	205					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128976337	128976337	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:128976337C>G	ENST00000314797.6	+	9	708	c.604C>G	c.(604-606)Cat>Gat	p.H202D		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	202					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GCTCCTGTACCATGTGCGTAA	0.517000													4	456					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179460510	179460510	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:179460510A>G	ENST00000589042.1	-	295	57795	c.57571T>C	c.(57571-57573)Ttc>Ctc	p.F19191L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F10126L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F16623L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F17550L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F10251L|TTN_ENST00000342175.6_Missense_Mutation_p.F10318L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17550	Ig-like 108.						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)			TGAGCTAGGAATGGTGTTCCA	0.393000													4	31					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120659463	120659463	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:120659463T>A	ENST00000536957.1	-	6	1263	c.788A>T	c.(787-789)gAg>gTg	p.E263V	PXN_ENST00000267257.7_Missense_Mutation_p.E265V|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Missense_Mutation_p.E265V|PXN_ENST00000458477.2_Missense_Mutation_p.E132V|PXN_ENST00000228307.7_Missense_Mutation_p.E265V			P49023	PAXI_HUMAN	paxillin	265					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGTCCAGCTCCCTGGTGGC	0.632000													4	9					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160854675	160854675	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:160854675T>A	ENST00000326245.3	-	2	110		c.e2-2			NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTGTAATCTAAAGAAAGCA	0.493000													7	531					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111011	46111011	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:46111011A>T	ENST00000321037.4	+	4	1227		c.e4-1			NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTTCTTTTTCAGTAGGTGACC	0.358000													5	317					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740155	109740155	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:109740155G>A	ENST00000369939.3	+	16	2364	c.2181G>A	c.(2179-2181)gaG>gaA	p.E727E	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.E640E	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	727					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGAGGGTGAGTCAGGGTTCT	0.552000													5	174					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126666981	126666981	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:126666981A>T	ENST00000274473.6	+	3	249		c.e3-1		MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCTTTCTTGTAGGTTGTTCTT	0.383000													4	54					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163215557	163215557	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:163215557A>T	ENST00000437150.2	+	6	619	c.458A>T	c.(457-459)tAt>tTt	p.Y153F	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Missense_Mutation_p.Y134F	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	153	EF-hand 3.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						TTTTTAGGTTATAGGTTGAGT	0.289000													8	107					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996166	32996166	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:32996166T>C	ENST00000070846.6	-	6	1484	c.1460A>G	c.(1459-1461)cAa>cGa	p.Q487R	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	487					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ccgcccgccttggcctcccaa	0.532000													2	25					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128757929	128757929	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:128757929A>G	ENST00000357702.5	-	8	1178	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	SAP130_ENST00000259234.6_Silent_p.S323S|SAP130_ENST00000259235.3_Silent_p.S349S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	349					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATGCAGGGTGAGATGGTAGTG	0.473000													180	635					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158464376	158464376	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:158464376C>A	ENST00000355585.4	+	5	815	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SYNJ2_ENST00000449859.2_Missense_Mutation_p.S196Y|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S247Y|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S247Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	247	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAGTGTCATCTTTTGTCCAG	0.493000													68	106					8.78091e-33	9.69085e-33	1	1	0
SYCP2L	221711	broad.mit.edu	37	6	10955427	10955427	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:10955427T>A	ENST00000283141.6	+	24	2329	c.2033T>A	c.(2032-2034)aTa>aAa	p.I678K		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	678						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCTTTCTCAATAACAGAAGAA	0.443000											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	238					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	372					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308000								Rad6 pathway					4	61					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130400403	130400403	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:130400403C>G	ENST00000356763.3	-	17	4197	c.3640G>C	c.(3640-3642)Gac>Cac	p.D1214H	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1214					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTCTCCATGTCCCACATGGAC	0.423000													16	201					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142054353	142054353	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:142054353T>A	ENST00000264951.4	-	34	3995		c.e34-2		XRN1_ENST00000392981.2_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTCTTTAACTAGAGACAAGA	0.313000													4	36					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465702	241465702	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:241465702A>G	ENST00000391987.1	-	6	1213	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L	ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.F283L|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.F372L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	283							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCACTAGCAAAGTTGTCCTTC	0.562000													31	57					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098148	50098148	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:50098148C>A	ENST00000418929.2	+	4	568	c.556C>A	c.(556-558)Cat>Aat	p.H186N		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	598	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTGTCCCCTCATGACGTGCT	0.687000													5	7					0.217242	0.220346	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129149349	129149349	+	Silent	SNP	G	G	A	rs147051252	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:129149349G>A	ENST00000540052.1	+	3	2645	c.2601G>A	c.(2599-2601)tcG>tcA	p.S867S	BCORL1_ENST00000303743.5_Silent_p.S867S|BCORL1_ENST00000359304.2_Silent_p.S867S|BCORL1_ENST00000218147.7_Silent_p.S867S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	867					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCGTTGTTTCGGAGTTTTCTG	0.642000													4	79					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19482017	19482017	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:19482017T>C	ENST00000375267.2	-	43	6221	c.6218A>G	c.(6217-6219)cAg>cGg	p.Q2073R	UBR4_ENST00000375217.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375226.2_Missense_Mutation_p.Q2073R|UBR4_ENST00000375254.3_Missense_Mutation_p.Q2073R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2073					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCATAAGCTGAGTATAGAT	0.448000													3	217					0	0	1	0	0
SSUH2	51066	broad.mit.edu	37	3	8673776	8673776	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:8673776C>A	ENST00000317371.4	-	12	1518	c.293G>T	c.(292-294)aGt>aTt	p.S98I	SSUH2_ENST00000544814.1_Missense_Mutation_p.S120I|SSUH2_ENST00000341795.3_Missense_Mutation_p.S98I|SSUH2_ENST00000415132.1_Missense_Mutation_p.S98I					ssu-2 homolog (C. elegans)																		CCTGGATTCACTAAAGGTCTC	0.423000													46	51					6.176e-18	6.71167e-18	1	1	0
TGM5	9333	broad.mit.edu	37	15	43552757	43552757	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:43552757C>A	ENST00000220420.5	-	2	38	c.31G>T	c.(31-33)Gac>Tac	p.D11Y	TGM5_ENST00000349114.4_Missense_Mutation_p.D11Y	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	11					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCTGGAGGTCTGTGAGGGCC	0.562000													104	225					1.66635e-27	1.82955e-27	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13865955	13865955	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:13865955C>A	ENST00000265104.4	-	27	4281	c.4177G>T	c.(4177-4179)Ggc>Tgc	p.G1393C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1393	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)					GCTGGCAGGCCAAAAAGCTCC	0.333000									Kartagener syndrome				23	30					0.01892	0.019563	1	1	0
CXorf66	347487	broad.mit.edu	37	X	139038732	139038732	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:139038732A>T	ENST00000370540.1	-	3	432	c.409T>A	c.(409-411)Tta>Ata	p.L137I		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	137	Ser-rich.					integral to membrane		p.L137I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTCTGATTAATTTTTCTGTG	0.438000													6	582					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27097703	27097703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:27097703C>T	ENST00000324856.7	+	12	3663	c.3292C>T	c.(3292-3294)Cag>Tag	p.Q1098*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q715*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1098*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1098	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGTATATCCAGTGTCTCTA	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	133					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045023	35045023	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:35045023C>T	ENST00000290374.4	-	2	1098	c.622G>A	c.(622-624)Gcc>Acc	p.A208T		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	208					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATTTCCAGGGCATTTCGGAAC	0.502000													30	82					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555434	148555434	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:148555434C>T	ENST00000296582.3	+	10	1740	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	389						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						ATTGCTTCTTCTATGCCACCT	0.418000													45	332					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147038	129147038	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:129147038C>G	ENST00000540052.1	+	3	334	c.290C>G	c.(289-291)cCa>cGa	p.P97R	BCORL1_ENST00000303743.5_Missense_Mutation_p.P97R|BCORL1_ENST00000359304.2_Missense_Mutation_p.P97R|BCORL1_ENST00000218147.7_Missense_Mutation_p.P97R|BCORL1_ENST00000488135.1_3'UTR	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	97					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GATCCCCAGCCAAAAATGGAC	0.602000													3	94					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129722454	129722454	+	Missense_Mutation	SNP	G	G	A	rs150691000	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:129722454G>A	ENST00000421865.2	+	38	5580	c.5531G>A	c.(5530-5532)cGt>cAt	p.R1844H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1844	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1844H(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGCCAACCGTCTTGCAGAT	0.403000													4	242					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114394727	114394727	+	Splice_Site	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:114394727C>A	ENST00000359785.5	-	10	886		c.e10-1		PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Splice_Site|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Splice_Site|PTPN22_ENST00000538253.1_Splice_Site	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						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)		CAGGAATTATCTATCAAATTA	0.348000													3	17					1	1	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212530141	212530141	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:212530141C>A	ENST00000342788.4	-	15	2088	c.1778G>T	c.(1777-1779)tGt>tTt	p.C593F	ERBB4_ENST00000436443.1_Missense_Mutation_p.C593F|ERBB4_ENST00000402597.1_Missense_Mutation_p.C593F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	593	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCCATCTGGACATTTTTCCAC	0.428000										TSP Lung(8;0.080)			32	155					8.4185e-14	8.96571e-14	1	1	0
KLF17	128209	broad.mit.edu	37	1	44596402	44596402	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:44596402G>T	ENST00000372299.3	+	3	1202	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y		NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	382					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGAGAGCAGGACAGTCCTCC	0.502000													55	78					2.31391e-43	2.56699e-43	1	1	0
SAP130	79595	broad.mit.edu	37	2	128757928	128757928	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:128757928G>A	ENST00000357702.5	-	8	1179	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	SAP130_ENST00000259234.6_Missense_Mutation_p.H324Y|SAP130_ENST00000259235.3_Missense_Mutation_p.H350Y	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	350					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATGCAGGGTGAGATGGTAGT	0.473000													180	633					0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53398085	53398085	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:53398085G>A	ENST00000226067.5	+	4	1206	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	HLF_ENST00000575307.1_3'UTR|HLF_ENST00000575345.1_Missense_Mutation_p.A160T|HLF_ENST00000573945.1_Missense_Mutation_p.A160T|HLF_ENST00000430986.2_Missense_Mutation_p.A160T	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	245					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CTCCCGCGACGCCCGGAGGCT	0.557000			T	TCF3	ALL								15	67					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69399514	69399514	+	Nonstop_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:69399514T>A	ENST00000409349.3	+	15	1208	c.1105T>A	c.(1105-1107)Taa>Aaa	p.*369K	ANTXR1_ENST00000303714.4_Intron	NM_053034.2	NP_444262.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	0					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAAAATAAAATAACAAGAAGA	0.383000									Familial Infantile Hemangioma				4	86					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:23180386A>T	ENST00000322231.7	+	6	866		c.e6-1		KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318000													8	114					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41136788	41136788	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:41136788C>T	ENST00000344051.4	+	2	270	c.36C>T	c.(34-36)ctC>ctT	p.L12L	SPINT1_ENST00000431806.1_Silent_p.L12L|SPINT1_ENST00000562057.1_Silent_p.L12L			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	12						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		gcgcccgcctcgccccggccg	0.766000													7	5					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43529671	43529671	+	Splice_Site	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr21:43529671G>A	ENST00000400427.1	+	10	1699		c.e10-1		UMODL1_ENST00000408910.2_Splice_Site|UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCCTGGCAGACTGGGACGA	0.577000													29	73					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42912198	42912198	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:42912198C>T	ENST00000244289.4	-	4	1862	c.1586G>A	c.(1585-1587)cGg>cAg	p.R529Q	LIPE_ENST00000602000.1_5'UTR|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	529					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)				CTGTGTGATCCGCTCAAACTC	0.602000													62	199					0	0	1	0	0
CCDC97	90324	broad.mit.edu	37	19	41825575	41825575	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:41825575C>T	ENST00000269967.3	+	3	721	c.599C>T	c.(598-600)gCc>gTc	p.A200V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	200										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GAGCTCAGTGCCCGCACCCCA	0.652000													4	222					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364829	22364829	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:22364829A>C	ENST00000263160.3	+	3	813	c.376A>C	c.(376-378)Atg>Ctg	p.M126L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	126					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AACCGTGGGGATGATCCACGG	0.532000													31	74					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:152497182T>A	ENST00000427231.2	-	61	8576		c.e61-2		NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin						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)		GTACTTGAACTAAAAGAAGAA	0.398000													7	214					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169438076	169438076	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:169438076T>A	ENST00000236137.5	-	4	1267		c.e4-2		SLC19A2_ENST00000367802.3_Splice_Site|SLC19A2_ENST00000367804.3_Splice_Site	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2						thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CAACAGCACCTACAGAACAAA	0.328000													5	132					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531590	190531590	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:190531590A>T	ENST00000260952.4	+	4	1145	c.732A>T	c.(730-732)ttA>ttT	p.L244F	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	244					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTGTTCCTTTAAATATGATGT	0.378000													5	248					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848626	42848626	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:42848626C>A	ENST00000334370.4	+	11	2457	c.1822C>A	c.(1822-1824)Ctc>Atc	p.L608I	MEGF8_ENST00000251268.6_Missense_Mutation_p.L608I	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	608	PSI 1.					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)				CCTGGGCCGCCTCCTGGGTGA	0.672000													18	22					1.80694e-10	1.90534e-10	1	1	0
PZP	5858	broad.mit.edu	37	12	9305466	9305466	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:9305466C>G	ENST00000261336.2	-	31	4103	c.4075G>C	c.(4075-4077)Gat>Cat	p.D1359H	PZP_ENST00000381997.2_Missense_Mutation_p.D1145H	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.D1359N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGTGTCCATCGCAAGTTTGG	0.433000													75	205					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747330	158747330	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:158747330T>A	ENST00000339258.1	-	1	95	c.96A>T	c.(94-96)ctA>ctT	p.L32L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTATGCCAATAGCAGCAGGA	0.493000													8	933					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61908398	61908398	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:61908398T>C	ENST00000394818.3	+	10	1677	c.1475T>C	c.(1474-1476)cTc>cCc	p.L492P	INCENP_ENST00000278849.4_Missense_Mutation_p.L492P	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	492					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTACGGCCCCTCCGGACCTTT	0.632000													10	44					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358000													4	50					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186937924	186937924	+	Missense_Mutation	SNP	C	C	T	rs3774266		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:186937924C>T	ENST00000337774.5	-	16	2424	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	679	Peptidase S1.		G -> R (in dbSNP:rs3774266).		complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GAGTATACTCCGTAGCGGTCC	0.572000											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	352					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148586585	148586585	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:148586585G>C	ENST00000340855.6	-	1	292	c.83C>G	c.(82-84)aCg>aGg	p.T28R	IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.T28R|IDS_ENST00000428056.2_Missense_Mutation_p.T28R|IDS_ENST00000370443.4_Missense_Mutation_p.T28R|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	28						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GTTGGCCTGCGTTTCGGATCC	0.647000													90	164					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183154	33183154	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:33183154C>A	ENST00000397061.3	+	1	288	c.288C>A	c.(286-288)ttC>ttA	p.F96L		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	96	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CGGCGCCATTCAGCCGCACCG	0.726000													6	16					0.217242	0.220346	1	1	0
PRRC2C	23215	broad.mit.edu	37	1	171509126	171509126	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:171509126G>A	ENST00000367742.3	+	16	2763	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	PRRC2C_ENST00000392078.3_Missense_Mutation_p.D841N|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D839N|PRRC2C_ENST00000338920.4_Missense_Mutation_p.D839N			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	839							protein C-terminus binding										AGCTGCGTTGGACCAGGAACA	0.383000													82	239					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872904	15872904	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr21:15872904A>T	ENST00000285670.2	-	7	1092	c.918T>A	c.(916-918)agT>agA	p.S306R	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.S70R|SAMSN1_ENST00000400566.1_Missense_Mutation_p.S238R	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	238					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTGCTGTTACTCCTTCGGT	0.408000													4	59					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612702	152612702	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:152612702G>A	ENST00000421401.3	+	4	736	c.559G>A	c.(559-561)Gga>Aga	p.G187R	ZNF275_ENST00000370251.2_Missense_Mutation_p.G187R|ZNF275_ENST00000440091.1_Missense_Mutation_p.G217R|ZNF275_ENST00000370249.2_Missense_Mutation_p.G134R	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	187						intracellular	nucleic acid binding|zinc ion binding	p.G134R(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGAGTGCGGAAAACGGTT	0.602000													4	337					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346532	48346532	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:48346532A>T	ENST00000319856.4	+	1	61	c.40A>T	c.(40-42)Ata>Tta	p.I14L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTTGTCTTTATAGGCAATAC	0.383000													5	280					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47497874	47497874	+	Missense_Mutation	SNP	G	G	T	rs145777693	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:47497874G>T	ENST00000455779.1	+	2	210	c.25G>T	c.(25-27)Gtc>Ttc	p.V9F	PHKB_ENST00000567402.1_Intron|PHKB_ENST00000566044.1_Missense_Mutation_p.V9F|PHKB_ENST00000299167.8_Intron|PHKB_ENST00000323584.5_Intron			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	0	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGATGCAGTCGTCTCTCCGTC	0.403000													9	95					9.05144e-12	9.59183e-12	1	1	0
MARCH8	220972	broad.mit.edu	37	10	46028588	46028588	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:46028588A>T	ENST00000453424.2	-	2	333	c.72T>A	c.(70-72)agT>agA	p.S24R	MARCH8_ENST00000395771.3_Missense_Mutation_p.S24R|MARCH8_ENST00000319836.3_Missense_Mutation_p.S24R|MARCH8_ENST00000395769.2_Missense_Mutation_p.S24R			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	24						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CTTTGGTCTTACTTCTGTAGA	0.398000													5	186					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													4	40					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37708465	37708465	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:37708465A>G	ENST00000539465.1	+	4	922	c.329A>G	c.(328-330)gAc>gGc	p.D110G	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D110G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	110	PDZ.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTGCTGAAGACCTTTCCTGG	0.453000													43	114					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106925	168106925	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:168106925T>A	ENST00000409195.1	+	9	9112	c.9023T>A	c.(9022-9024)gTa>gAa	p.V3008E	XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2833					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGAAAAAGTAAAAGAAGAA	0.333000													5	137					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715254	53715254	+	Splice_Site	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:53715254C>T	ENST00000549983.1	-	1	146		c.e1+1		AAAS_ENST00000209873.4_5'UTR|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000394384.3_5'UTR			Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia						carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GCACATCTTGCCGGTTCGCAG	0.607000											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	292					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023803	6023803	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:6023803T>A	ENST00000574946.1	+	9	1940	c.1550T>A	c.(1549-1551)cTg>cAg	p.L517Q	WSCD1_ENST00000574232.1_Missense_Mutation_p.L517Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.L517Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.L401Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.L517Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	517						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAGGAGCGGCTGCTCTGCGTG	0.652000													33	70					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55457606	55457606	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:55457606G>T	ENST00000371268.3	+	3	737	c.463G>T	c.(463-465)Gcc>Tcc	p.A155S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	155						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TACGGAGGAAGCCCTGGAGCC	0.627000													35	59					8.16277e-20	8.91626e-20	1	1	0
IGSF11	152404	broad.mit.edu	37	3	118623533	118623533	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:118623533A>T	ENST00000354673.2	-	8	1193	c.813T>A	c.(811-813)aaT>aaA	p.N271K	IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K|IGSF11_ENST00000393775.2_Missense_Mutation_p.N272K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCCTCTTTATTTTTGCTTC	0.343000													4	122					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042411	42042411	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:42042411T>A	ENST00000219905.7	+	17	6787	c.6606T>A	c.(6604-6606)atT>atA	p.I2202I	MGA_ENST00000545763.1_Silent_p.I1993I|MGA_ENST00000566586.1_Silent_p.I1993I|MGA_ENST00000389936.4_Silent_p.I2163I|MGA_ENST00000570161.1_Silent_p.I2202I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2163						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGCAGTTAATTAAAGAAACAA	0.413000													5	172					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176524604	176524604	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:176524604A>C	ENST00000292408.4	+	18	2581	c.2336A>C	c.(2335-2337)gAt>gCt	p.D779A	FGFR4_ENST00000393648.2_Missense_Mutation_p.D711A|FGFR4_ENST00000502906.1_Missense_Mutation_p.D779A|FGFR4_ENST00000393637.1_Missense_Mutation_p.D739A|FGFR4_ENST00000292410.3_Missense_Mutation_p.D739A	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	779					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	TCCTCCAGCGATTCTGTCTTC	0.632000										TSP Lung(9;0.080)			66	77					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603282	111603282	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:111603282G>A	ENST00000431670.2	+	2	769	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PHLDB2_ENST00000393925.3_Missense_Mutation_p.G120R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G120R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G147R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	120						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCCCTCAGTGGATATCCACT	0.448000													20	771					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742451	17742451	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:17742451T>C	ENST00000380060.3	+	5	1416	c.1078T>C	c.(1078-1080)Tgc>Cgc	p.C360R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.C204R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	360						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TAGTATACGCTGCTCTCTGGT	0.433000													29	456					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674702	4674702	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:4674702T>G	ENST00000396952.5	+	2	1596	c.946T>G	c.(946-948)Tca>Gca	p.S316A	OR51E1_ENST00000530215.1_3'UTR	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACACACGCTTCAGAGCCCTA	0.428000													215	397					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18188466	18188466	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:18188466T>A	ENST00000321105.5	-	15	2081	c.1867A>T	c.(1867-1869)Aaa>Taa	p.K623*	TOP3A_ENST00000540524.1_Nonsense_Mutation_p.K153*|TOP3A_ENST00000542570.1_Nonsense_Mutation_p.K528*	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	623					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTCTTTGCTTTAGCCACCGCT	0.458000													64	101					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084879	31084879	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:31084879C>G	ENST00000376288.2	-	2	539	c.513G>C	c.(511-513)ggG>ggC	p.G171G	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	171	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CAGAGCCATTCCCTACTTGGA	0.547000													33	67					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43112204	43112204	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr17:43112204A>G	ENST00000452796.2	-	1	305	c.50T>C	c.(49-51)gTg>gCg	p.V17A	DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.V17A|DCAKD_ENST00000310604.4_Missense_Mutation_p.V17A|DCAKD_ENST00000342350.5_Missense_Mutation_p.V17A			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	17	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CACCTGGATCACTGAGCTCTT	0.617000													16	93					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3151561	3151561	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:3151561A>G	ENST00000381075.2	+	12	1178	c.954A>G	c.(952-954)ggA>ggG	p.G318G	PFKP_ENST00000381125.4_Silent_p.G326G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	326					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCCGCATGGGAGTGGAGGCAG	0.637000													14	13					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38807138	38807138	+	Splice_Site	SNP	G	G	A	rs139485137	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:38807138G>A	ENST00000310301.4	-	15	1300	c.1247_splice	c.e15+1	p.R416_splice	VPS41_ENST00000395969.2_Splice_Site_p.R391_splice	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	416					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATCATTACCGTGCTGCTATG	0.318000													24	125					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101765861	101765861	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:101765861G>A	ENST00000375001.3	+	8	1615	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	398	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGAGGAAGGGGTCACTCCAGT	0.607000													35	50					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27878230	27878230	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:27878230A>T	ENST00000337768.5	-	5	1552		c.e5+1		SUPT7L_ENST00000405491.1_Splice_Site|SUPT7L_ENST00000404798.2_Splice_Site|SUPT7L_ENST00000406540.1_Splice_Site|SUPT7L_ENST00000464789.2_Splice_Site	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like						histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TATTTGTCTTACTTGAAGCCT	0.453000													6	197					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99801730	99801730	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:99801730G>A	ENST00000426455.1	+	26	3194	c.2787G>A	c.(2785-2787)ctG>ctA	p.L929L	STAG3_ENST00000317296.5_Silent_p.L929L|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Silent_p.L871L			Q9UJ98	STAG3_HUMAN	stromal antigen 3	929					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCCTGCTGCTGAGCCTCA	0.498000													91	225					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228862	21228862	+	Silent	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:21228862A>T	ENST00000233242.1	-	26	11005	c.10878T>A	c.(10876-10878)acT>acA	p.T3626T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3626					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)	TCTGGTTCTTAGTGTTAGCAT	0.488000													6	137					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124211627	124211627	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:124211627T>G	ENST00000360013.3	+	32	4851	c.4724T>G	c.(4723-4725)aTt>aGt	p.I1575S	KALRN_ENST00000460856.1_Missense_Mutation_p.I1566S|KALRN_ENST00000240874.3_Missense_Mutation_p.I1575S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1575	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAGAACATTCGAGAAGTG	0.463000													58	111					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													5	87					0	0	1	0	0
EPCAM	4072	broad.mit.edu	37	2	47600621	47600621	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:47600621C>T	ENST00000263735.4	+	2	454	c.96C>T	c.(94-96)taC>taT	p.Y32Y	EPCAM_ENST00000405271.1_Silent_p.Y60Y	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	32					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GTGAAAACTACAAGCTGGCCG	0.323000													3	38					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909676	71909676	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:71909676T>A	ENST00000258104.3	+	54	6350	c.6073T>A	c.(6073-6075)Ttc>Atc	p.F2025I	DYSF_ENST00000394120.2_Missense_Mutation_p.F2026I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.F2046I|DYSF_ENST00000413539.2_Missense_Mutation_p.F2056I|DYSF_ENST00000410020.3_Missense_Mutation_p.F2064I|DYSF_ENST00000410041.1_Missense_Mutation_p.F2043I|DYSF_ENST00000409744.1_Missense_Mutation_p.F2033I|DYSF_ENST00000409762.1_Missense_Mutation_p.F2042I|DYSF_ENST00000409651.1_Missense_Mutation_p.F2057I|DYSF_ENST00000409582.3_Missense_Mutation_p.F2063I|DYSF_ENST00000409366.1_Missense_Mutation_p.F2047I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2025						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGACACCTCCTTCCTGTGGTT	0.547000													123	390					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919627	58919627	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:58919627T>A	ENST00000528737.1	+	5	3304	c.486T>A	c.(484-486)agT>agA	p.S162R	FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R|FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	162					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAGTAAAAGTAAGCAGAAGG	0.413000													5	235					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45832575	45832575	+	Silent	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:45832575T>A	ENST00000263736.4	-	2	68	c.6A>T	c.(4-6)tcA>tcT	p.S2S		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	2					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTGGCAATGATGACATCTAGA	0.343000													112	138					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95001402	95001402	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:95001402A>G	ENST00000357742.4	+	19	2287	c.2287A>G	c.(2287-2289)Atg>Gtg	p.M763V	MCTP2_ENST00000451018.3_Missense_Mutation_p.M708V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	763					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAGAATCTATATGGTACAGGA	0.318000													27	39					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421295	134421295	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:134421295A>T	ENST00000370766.3	-	7	4016	c.1307T>A	c.(1306-1308)cTa>cAa	p.L436Q	ZNF75D_ENST00000370764.1_Missense_Mutation_p.L341Q|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTGTGTGTGTAGATTTGTGTT	0.378000													5	290					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93815589	93815589	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:93815589A>G	ENST00000315765.9	+	10	1730	c.1722A>G	c.(1720-1722)ggA>ggG	p.G574G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	574	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGTAGAAAGGAATAGACAAGG	0.343000													7	67					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52472479	52472479	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:52472479C>T	ENST00000216286.5	-	21	4092	c.4093G>A	c.(4093-4095)Gca>Aca	p.A1365T	NID2_ENST00000541773.1_Missense_Mutation_p.A1264T	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1365						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTAGACTGCAGTTATCCCG	0.418000													45	138					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48467338	48467338	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr20:48467338A>T	ENST00000417961.1	+	7	784	c.574A>T	c.(574-576)Att>Ttt	p.I192F	SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000541138.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTGTGTTTTATTTTACAGGC	0.358000													5	78					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184922240	184922240	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:184922240C>T	ENST00000231887.3	-	6	949	c.874G>A	c.(874-876)Gca>Aca	p.A292T	EHHADH_ENST00000456310.1_Missense_Mutation_p.A196T	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	292	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CGCGCTGATGCTGTTTTCCAC	0.483000													103	227					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24795283	24795283	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr14:24795283A>T	ENST00000310677.4	-	13	1769		c.e13+1		ADCY4_ENST00000418030.2_Splice_Site|ADCY4_ENST00000396747.3_Splice_Site|ADCY4_ENST00000554068.2_Splice_Site	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTTCTCCGTACTTCTGCGAG	0.612000													5	175					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027645	161027645	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:161027645G>A	ENST00000447678.1	-	18	2769	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	LPA_ENST00000316300.5_Silent_p.A883A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3391	Kringle 8.				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)	AACAATAAGGGGCTGCCACAG	0.517000													5	531					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858608	149858608	+	Silent	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:149858608A>G	ENST00000331380.2	+	1	84	c.84A>G	c.(82-84)gtA>gtG	p.V28V		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	28					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTTCCCGGTAGGGCGAGTGC	0.672000													5	279					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412314	81412314	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:81412314G>A	ENST00000430430.1	+	3	2337	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	ZBTB10_ENST00000455036.3_Missense_Mutation_p.G520S|ZBTB10_ENST00000379091.4_Missense_Mutation_p.G228S|ZBTB10_ENST00000426744.2_Missense_Mutation_p.G520S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	520					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAAAATGATGGTTGTAATGT	0.403000													22	90					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303264	153303264	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:153303264G>C	ENST00000368739.3	-	9	1447	c.1089C>G	c.(1087-1089)acC>acG	p.T363T	PGLYRP4_ENST00000359650.5_Silent_p.T367T			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	367					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			AATGAGGCCAGGTGCTGATGA	0.552000													129	298					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930359	46930359	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:46930359A>T	ENST00000264318.3	-	9	2530	c.1548T>A	c.(1546-1548)agT>agA	p.S516R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	516			S -> R (in a breast cancer sample; somatic mutation).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTCTATTTTACTTGTGCCAG	0.428000													8	149					0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5808591	5808591	+	Silent	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:5808591G>C	ENST00000380191.4	-	9	1292	c.1002C>G	c.(1000-1002)gtC>gtG	p.V334V	GDI2_ENST00000380181.3_Silent_p.V289V|GDI2_ENST00000380132.4_Silent_p.V338V|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	334					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AGATCATGCAGACGTAGATAT	0.453000													10	120					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145849222	145849222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:145849222T>A	ENST00000296702.5	+	7	1352	c.1314T>A	c.(1312-1314)taT>taA	p.Y438*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.Y417*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	438	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTGAATATAAAACAGCAG	0.403000													6	340					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15669843	15669843	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:15669843A>G	ENST00000281171.4	+	9	2062	c.1732A>G	c.(1732-1734)Acc>Gcc	p.T578A	PTPRO_ENST00000543886.1_Missense_Mutation_p.T578A|PTPRO_ENST00000348962.2_Missense_Mutation_p.T578A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	578	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCAGAGTGGACCACCTACTA	0.443000													9	1134					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54049278	54049278	+	Splice_Site	SNP	T	T	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:54049278T>A	ENST00000338154.6	-	3	603		c.e3-2		PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000322659.8_Splice_Site|PHF8_ENST00000357988.5_Splice_Site	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAACACAACTGAAAAAGAGA	0.413000													5	112					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468430	56468430	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:56468430C>T	ENST00000312153.1	+	1	567	c.567C>T	c.(565-567)ggC>ggT	p.G189G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGCCTGTGGCGAGAAGGGCG	0.473000													20	158					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253460	65253460	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:65253460G>A	ENST00000455586.2	-	2	394	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	VSIG4_ENST00000412866.2_Missense_Mutation_p.H90Y|VSIG4_ENST00000374737.4_Missense_Mutation_p.H90Y	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	90	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAACCTTGTGGCTCACATGC	0.552000													178	330					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150940953	150940953	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:150940953A>T	ENST00000271688.6	-	3	595	c.209T>A	c.(208-210)aTa>aAa	p.I70K	CERS2_ENST00000561294.1_Missense_Mutation_p.I70K|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.I70K	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	70						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTTCTCCTTTATGTTCAAGAG	0.557000													5	130					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123855337	123855337	+	Silent	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr4:123855337G>A	ENST00000274008.3	+	5	660	c.591G>A	c.(589-591)ggG>ggA	p.G197G	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	197					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAGTGAAAGGGGCAGATGGCA	0.463000													15	111					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr15:31851205C>A	ENST00000382902.1	-	3	609	c.517G>T	c.(517-519)Gag>Tag	p.E173*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.E173*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	173	TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.E173Q(1)|p.E173K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572000													3	113					0.150653	0.154275	1	1	0
UTRN	7402	broad.mit.edu	37	6	144811267	144811267	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:144811267C>T	ENST00000367545.3	+	30	4195	c.4195C>T	c.(4195-4197)Cgt>Tgt	p.R1399C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1399	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGAAATATGCGTTCTCAGCC	0.468000													3	144					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52943655	52943655	+	Silent	SNP	T	T	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:52943655T>C	ENST00000244426.6	+	4	568	c.396T>C	c.(394-396)acT>acC	p.T132T	FBXO9_ENST00000323557.7_Silent_p.T122T|FBXO9_ENST00000370939.3_Silent_p.T88T	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	132						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TCAAGATTACTTATACCCGGT	0.363000													14	26					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116356377	116356377	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:116356377G>C	ENST00000462403.1	+	1	612	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTCCTGTCTGAGTCCCAGCC	0.622000													11	19					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115102194	115102194	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr11:115102194C>T	ENST00000542447.2	-	4	569	c.441G>A	c.(439-441)ctG>ctA	p.L147L	CADM1_ENST00000452722.2_Silent_p.L147L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Silent_p.L147L|CADM1_ENST00000537058.1_Silent_p.L147L|CADM1_ENST00000331581.6_Silent_p.L147L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	147	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TATCGATCATCAGATTACGTG	0.418000													94	211					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103565869	103565869	+	Silent	SNP	C	C	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:103565869C>T	ENST00000361464.3	-	6	1079	c.684G>A	c.(682-684)gtG>gtA	p.V228V	MGEA5_ENST00000439817.1_Silent_p.V228V|MGEA5_ENST00000370094.3_Silent_p.V228V|MGEA5_ENST00000357797.5_Silent_p.V228V|MGEA5_ENST00000419011.2_3'UTR	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	228					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGACTGAGACACATTTGGAT	0.353000													9	24					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52160595	52160595	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:52160595A>T	ENST00000282588.6	+	4	753		c.e4-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTATTTTTAGTTAATACAT	0.328000													6	39					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66976070	66976070	+	Silent	SNP	C	C	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:66976070C>G	ENST00000317091.4	+	9	2376	c.1392C>G	c.(1390-1392)ccC>ccG	p.P464P	CES2_ENST00000417689.1_Silent_p.P464P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	400					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		ATGGGGATCCCCAGACCCTCC	0.527000													36	63					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38110238	38110238	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:38110238A>T	ENST00000397166.2	+	14	2142		c.e14-1		DDHD2_ENST00000517385.1_Splice_Site|DDHD2_ENST00000520272.2_Splice_Site|DDHD2_ENST00000529845.1_Intron	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2						lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTTCCTATGTAGTTTGATCCT	0.418000													5	45					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39247033	39247033	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:39247033G>A	ENST00000518318.2	+	4	367	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	POU6F2_ENST00000559001.1_Missense_Mutation_p.V101M|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.V109M			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	109					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGGCCGGCGTGATGCCGGG	0.577000													19	321					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987783	182987783	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:182987783A>G	ENST00000326505.3	+	2	727	c.197A>G	c.(196-198)cAc>cGc	p.H66R	MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.H66R|B3GNT5_ENST00000465010.1_Missense_Mutation_p.H66R|MCF2L2_ENST00000447025.2_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	66					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCTCTTAAGCACACCTCAGCG	0.408000													54	140					0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22354654	22354654	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:22354654A>T	ENST00000396037.4	-	5	1384	c.903T>A	c.(901-903)aaT>aaA	p.N301K	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.N158K	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	301					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCATGCATATTCACAGAGA	0.527000													34	58					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452847	58452847	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:58452847T>G	ENST00000282308.3	-	3	1525	c.1329A>C	c.(1327-1329)ttA>ttC	p.L443F	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	443					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TCCTGCTAAATAATTTTCCAC	0.378000													5	125					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61335450	61335450	+	Splice_Site	SNP	A	A	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:61335450A>T	ENST00000402291.1	+	15	1852		c.e15-1		KIAA1841_ENST00000356719.2_Splice_Site|KIAA1841_ENST00000295031.5_Splice_Site|KIAA1841_ENST00000453873.1_Splice_Site	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841											breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCTGTCTTGTAGTTCTTGTCA	0.303000													5	87					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6742-6747)caccccfs	p.HP2248fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2248	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554													7	435	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)cgcfs	p.R479fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569													7	701	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	491	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													21	686	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													14	223	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													15	227	---	---	---	---					
DLGAP3	58512	broad.mit.edu	37	1	35365794	35365799	+	In_Frame_Del	DEL	GCTGCC	GCTGCC	-	rs140339373	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:35365794_35365799delGCTGCC	ENST00000373347.1	-	4	1451_1456	c.1183_1188delGGCAGC	c.(1183-1188)del	p.GS395del	DLGAP3_ENST00000235180.4_In_Frame_Del_p.GS395del			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	395					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTTTGATGTAGCTGCCGCTCCGCATC	0.641													103	328	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					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)				GGAAGGTCCTCGGGGGGAATGA	0.604													10	524	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050213	42050214	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:42050213_42050214insG	ENST00000372584.1	-	3	1269_1270	c.255_256insC	c.(253-258)cctcgafs	p.R86fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.R86fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.R86fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.R86fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	86					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)				GATGCTTCGATGGGGGGCCTTT	0.609													7	592	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44877877	44877887	+	Frame_Shift_Del	DEL	TGATGCTTCCA	TGATGCTTCCA	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:44877877_44877887delTGATGCTTCCA	ENST00000355387.2	+	2	558_568	c.108_118delTGATGCTTCCA	c.(106-120)cgtcfs	p.RDASI36fs	RNF220_ENST00000361799.2_Frame_Shift_Del_p.RDASI36fs|RNF220_ENST00000372247.2_Frame_Shift_Del_p.RDASI36fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	36					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGGCCAGCCGTGATGCTTCCATCCCTTGTCA	0.545													27	524	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													7	1450	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:50666498_50666499insC	ENST00000371821.1	+	7	1121_1122	c.806_807insC	c.(805-807)gccfs	p.A269fs	ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000448907.2_Intron			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.530													9	581	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													26	476	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													17	356	---	---	---	---					
ALG6	29929	broad.mit.edu	37	1	63902501	63902506	+	In_Frame_Del	DEL	TCTCAG	TCTCAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:63902501_63902506delTCTCAG	ENST00000371108.4	+	15	1639_1644	c.1334_1339delTCTCAG	c.(1333-1341)atc>a	p.ISV445del	ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_In_Frame_Del_p.ISV447del	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	445					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTTTCTTATCTCAGTCATCACTAT	0.369													82	294	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													8	235	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													9	454	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													37	609	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													9	302	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													11	350	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													21	798	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-804)accfs	p.T268fs	C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs|C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	268										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.520													10	763	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152285219	152285221	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:152285219_152285221delGGA	ENST00000368799.1	-	3	2176_2178	c.2141_2143delTCC	c.(2140-2145)cag>c	p.LQ714del	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	714	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q715E(2)|p.L714L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGACTGGAGCTGGTGGCG	0.571									Ichthyosis				7	1267	---	---	---	---					
LCE2A	353139	broad.mit.edu	37	1	152671424	152671425	+	Frame_Shift_Ins	INS	-	-	C	rs138365632		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:152671424_152671425insC	ENST00000368779.1	+	2	98_99	c.47_48insC	c.(46-48)tccfs	p.S16fs		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	16	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCAAGTGCCCCCCAAAAT	0.574													8	155	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			AACAGCTTCTGCCCCCCATGCC	0.589													9	947	---	---	---	---					
CREB3L4	148327	broad.mit.edu	37	1	153941096	153941097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:153941096_153941097insC	ENST00000368607.3	+	2	361_362	c.95_96insC	c.(94-96)tccfs	p.S32fs	CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.S32fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	32					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACTCCACTGCCCCCCTCCAG	0.614													7	208	---	---	---	---					
UBAP2L	9898	broad.mit.edu	37	1	154227676	154227677	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:154227676_154227677insC	ENST00000428931.1	+	17	2125_2126	c.1958_1959insC	c.(1957-1959)accfs	p.T653fs	UBAP2L_ENST00000343815.6_Frame_Shift_Ins_p.T653fs|UBAP2L_ENST00000361546.2_Frame_Shift_Ins_p.T653fs|UBAP2L_ENST00000271877.7_Frame_Shift_Ins_p.T664fs	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	653					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTTCTAGCATCCCCCCTCTCA	0.455													7	350	---	---	---	---					
UBE2Q1	55585	broad.mit.edu	37	1	154523415	154523416	+	Splice_Site	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:154523415_154523416insT	ENST00000292211.4	-	12	1314_1315	c.1237_splice	c.e12+1	p.R412_splice		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	412							ATP binding|protein binding|ubiquitin-protein ligase activity	p.N412fs*>12(1)|p.G413fs*>11(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCCTCACCGTTTTTTTCGTG	0.520													8	1146	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					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)			CCTCCTTTGTGTTTTTTTCTAG	0.431													8	1557	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													9	384	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													8	1208	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(283-288)ttggggfs	p.LG95fs	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604													7	720	---	---	---	---					
NHLH1	4807	broad.mit.edu	37	1	160340836	160340837	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:160340836_160340837insC	ENST00000302101.5	+	2	761_762	c.315_316insC	c.(313-318)ctccccfs	p.LP105fs		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	105	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCCTACGCTGCCCCCCGACAA	0.614													7	157	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													7	218	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				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)		TGACCTGGACGCCCCCCTCTGC	0.505													9	560	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													25	726	---	---	---	---					
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)gttfs	p.V787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668													12	626	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													13	488	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													12	391	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													12	458	---	---	---	---					
PXDN	7837	broad.mit.edu	37	2	1652983	1652984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:1652983_1652984insG	ENST00000252804.4	-	17	2618_2619	c.2568_2569insC	c.(2566-2571)ccgcttfs	p.L857fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	857					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.C857fs*5(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACAGAGAAGCAGGGGGGGTCGT	0.663													9	111	---	---	---	---					
GREB1	9687	broad.mit.edu	37	2	11738052	11738053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:11738052_11738053insC	ENST00000381486.2	+	14	2400_2401	c.2100_2101insC	c.(2098-2103)atccccfs	p.IP700fs	GREB1_ENST00000234142.5_Frame_Shift_Ins_p.IP700fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	700						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATTTGCATTCCCCCCTCAGA	0.520													10	982	---	---	---	---					
TRIB2	28951	broad.mit.edu	37	2	12863619	12863620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:12863619_12863620insG	ENST00000155926.4	+	2	1923_1924	c.504_505insG	c.(502-507)gaggggfs	p.EG168fs	TRIB2_ENST00000405331.3_Frame_Shift_Ins_p.EG168fs|TRIB2_ENST00000381465.2_Frame_Shift_Ins_p.EG32fs	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	168	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGGT	0.579													9	283	---	---	---	---					
RAD51AP2	729475	broad.mit.edu	37	2	17699325	17699326	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:17699325_17699326insG	ENST00000399080.2	-	1	380_381	c.357_358insC	c.(355-360)cccacafs	p.T120fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	120										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)					GGACTTTGTGAGGGGGGAGACT	0.480													8	229	---	---	---	---					
NRBP1	29959	broad.mit.edu	37	2	27658017	27658018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:27658017_27658018insC	ENST00000233557.3	+	8	1416_1417	c.584_585insC	c.(583-585)gccfs	p.A195fs	NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589													10	337	---	---	---	---					
AC009229.5	0	broad.mit.edu	37	2	38456196	38456196	+	RNA	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:38456196delA	ENST00000450854.1	-	0	533																											tacccaacttaaaaaaaaaaa	0.408													3	4	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													9	627	---	---	---	---					
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1795-1800)tcccccfs	p.SP599fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	599					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401													7	402	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73303155	73303156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:73303155_73303156insG	ENST00000258098.6	-	4	1963_1964	c.1723_1724insC	c.(1723-1725)ggcfs	p.G575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGGCCAGCCTGGGGGGCCTGG	0.599													7	1365	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													10	1032	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)cccfs	p.P398fs	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398					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						CCTTCCTACTGCCCCCCTCTAC	0.505													15	549	---	---	---	---					
FER1L5	90342	broad.mit.edu	37	2	97365230	97365231	+	RNA	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:97365230_97365231insG	ENST00000457909.1	+	0	4113							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGGTGAGGGAGGGGGGCACAG	0.579													8	370	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													9	758	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													9	314	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152422253	152422254	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:152422253_152422254insA	ENST00000397345.3	-	115	18439_18440	c.18237_18238insT	c.(18235-18240)acagaafs	p.E6080fs	NEB_ENST00000409198.1_Frame_Shift_Ins_p.E4379fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.E4379fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.E6080fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6074					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)		TCCTGGTTCTTAGTAACCCTTA	0.505													16	59	---	---	---	---					
MARCH7	64844	broad.mit.edu	37	2	160605264	160605265	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:160605264_160605265insC	ENST00000259050.3	+	5	1585_1586	c.1463_1464insC	c.(1462-1464)gccfs	p.A488fs	MARCH7_ENST00000409591.1_Frame_Shift_Ins_p.A450fs|MARCH7_ENST00000409175.1_Frame_Shift_Ins_p.A488fs|MARCH7_ENST00000539065.1_Frame_Shift_Ins_p.A432fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	488							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CGGTTTGCAGTCCCTCCAGCAC	0.436													7	520	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													12	403	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	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						GCGCCTCCAATCCCCCCCACAT	0.465													8	407	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													19	417	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													8	793	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:203621968_203621969insC	ENST00000303116.6	+	6	1147_1148	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs	FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485													9	161	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													8	164	---	---	---	---					
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)cgafs	p.R119fs	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.550													8	559	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220504281	220504282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:220504281_220504282insG	ENST00000358055.3	+	20	3613_3614	c.3101_3102insG	c.(3100-3102)cggfs	p.R1034fs	SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.R1034fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.R1034fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1034	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTCT	0.644													7	156	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													14	204	---	---	---	---					
TRIP12	9320	broad.mit.edu	37	2	230724115	230724116	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:230724115_230724116insT	ENST00000283943.5	-	3	451_452	c.273_274insA	c.(271-276)aacaaafs	p.NK91fs	TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.NK133fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436													8	336	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													19	480	---	---	---	---					
HDLBP	3069	broad.mit.edu	37	2	242179466	242179467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr2:242179466_242179467insC	ENST00000391975.1	-	18	2467_2468	c.2240_2241insG	c.(2239-2241)gggfs	p.G747fs	HDLBP_ENST00000427183.2_Frame_Shift_Ins_p.G714fs|HDLBP_ENST00000391976.2_Frame_Shift_Ins_p.G747fs|HDLBP_ENST00000310931.4_Frame_Shift_Ins_p.G747fs	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAATTTTGCCGCCCCCCTTGCC	0.545													7	541	---	---	---	---					
IL17RC	84818	broad.mit.edu	37	3	9974537	9974538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:9974537_9974538insG	ENST00000295981.3	+	18	1948_1949	c.1730_1731insG	c.(1729-1731)tggfs	p.W577fs	IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.W506fs|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.W491fs|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.W474fs	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	577						integral to membrane|plasma membrane	receptor activity	p.S577L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGTCCGCTCGGGGGGTGAGT	0.693											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	36	---	---	---	---					
CX3CR1	1524	broad.mit.edu	37	3	39307167	39307167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:39307167delA	ENST00000541347.1	-	2	1073	c.834delT	c.(832-834)acfs	p.T278fs	CX3CR1_ENST00000399220.2_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000542107.1_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000358309.3_Frame_Shift_Del_p.T310fs	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	278					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)		CAACCGTCTCAGTCACACTGA	0.473													42	345	---	---	---	---					
WDR6	11180	broad.mit.edu	37	3	49051381	49051382	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:49051381_49051382insG	ENST00000395474.3	+	2	2784_2785	c.2504_2505insG	c.(2503-2505)gggfs	p.G835fs	WDR6_ENST00000415265.2_Frame_Shift_Ins_p.G253fs|WDR6_ENST00000448293.1_Frame_Shift_Ins_p.G754fs	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	805					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTGGTGTCTGCGGGGGGGCGGG	0.639											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	108	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													12	539	---	---	---	---					
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)ggafs	p.G380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCTTCTCCTGGGGGGTGAAT	0.500													8	518	---	---	---	---					
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cctaatfs	p.N88fs		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	88	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441													8	952	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													8	316	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													7	658	---	---	---	---					
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)cccfs	p.P305fs	HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCAGTGGCACCCCCCTCATC	0.540													8	642	---	---	---	---					
CHRD	8646	broad.mit.edu	37	3	184099144	184099145	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr3:184099144_184099145insC	ENST00000204604.1	+	3	620_621	c.374_375insC	c.(373-375)tccfs	p.S125fs	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Frame_Shift_Ins_p.S125fs|CHRD_ENST00000348986.3_Frame_Shift_Ins_p.S125fs	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	125	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCAGACCTGCCCCCAGGGTA	0.683													2	4	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													12	832	---	---	---	---					
RFC1	5981	broad.mit.edu	37	4	39314450	39314451	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:39314450_39314451insC	ENST00000381897.1	-	11	1437_1438	c.1304_1305insG	c.(1303-1305)gaafs	p.E435fs	RFC1_ENST00000349703.2_Frame_Shift_Ins_p.E435fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	435	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGTTACTTTTCCCCCATAACG	0.426													8	1275	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													13	630	---	---	---	---					
SPATA5	166378	broad.mit.edu	37	4	123859334	123859335	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:123859334_123859335insG	ENST00000274008.3	+	8	1457_1458	c.1388_1389insG	c.(1387-1389)gggfs	p.G463fs	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	463					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGAAAAGAGAGGGGGCCCAGA	0.361													7	304	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													10	536	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			8	839	---	---	---	---					
SEMA5A	9037	broad.mit.edu	37	5	9044549	9044550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:9044549_9044550insG	ENST00000382496.5	-	22	3705_3706	c.3040_3041insC	c.(3040-3042)taafs	p.*1014fs	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1014					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGGTATTAAGGGGGGCAGGT	0.525													8	451	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													17	1037	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													8	146	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	288	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65370919	65370920	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:65370919_65370920insC	ENST00000284037.5	+	23	4213_4214	c.3824_3825insC	c.(3823-3825)cccfs	p.P1275fs	ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1230fs|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P473fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1282fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1275					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAATACATCACCCCCCTCAGG	0.455													7	285	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													11	380	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													12	162	---	---	---	---					
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggtcafs	p.S312fs	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCCCTGACGCCCCCCGTTTC	0.530													8	561	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													7	576	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													13	405	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													7	1257	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132545911	132545912	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:132545911_132545912insC	ENST00000265342.7	-	14	1936_1937	c.1687_1688insG	c.(1687-1689)cgtfs	p.R563fs	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	563						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGTGCACGTCCCCCCAGCTC	0.495													10	682	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(991-996)acccccfs	p.TP331fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649													10	163	---	---	---	---					
SRA1	10011	broad.mit.edu	37	5	139931628	139931629	+	In_Frame_Ins	INS	-	-	GTC	rs148588257	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:139931628_139931629insGTC	ENST00000336283.6	-	3	1149_1150	c.328_329insGAC	c.(328-330)gat>GACgat	p.110_110D>DD	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	110				V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589													41	295	---	---	---	---					
PCDHGC4	56098	broad.mit.edu	37	5	140865128	140865129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:140865128_140865129insC	ENST00000306593.1	+	1	388_389	c.388_389insC	c.(388-390)cccfs	p.P130fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATCACGCCCCCCGTTTT	0.574													11	590	---	---	---	---					
PCDHGC5	56097	broad.mit.edu	37	5	140870530	140870531	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:140870530_140870531insC	ENST00000252087.1	+	1	1723_1724	c.1723_1724insC	c.(1723-1725)cccfs	p.P575fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		575	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACACTCAGCCCCCCAGCGT	0.589													7	376	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													11	1259	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													8	817	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													8	509	---	---	---	---					
RPL26L1	51121	broad.mit.edu	37	5	172386937	172386938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr5:172386937_172386938insC	ENST00000521476.1	+	2	185_186	c.61_62insC	c.(61-63)cccfs	p.P21fs	RPL26L1_ENST00000519239.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000519974.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000265100.2_Frame_Shift_Ins_p.P21fs			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	21					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTTCAATGCCCCCTCACAC	0.559													9	1664	---	---	---	---					
PRPF4B	8899	broad.mit.edu	37	6	4032356	4032357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:4032356_4032357insG	ENST00000337659.6	+	2	705_706	c.605_606insG	c.(604-606)aggfs	p.R202fs	PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.R188fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	202	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGAAAAGTAAGGGGGGTATTG	0.361													7	214	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													7	239	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													19	306	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													9	293	---	---	---	---					
HCG17	414778	broad.mit.edu	37	6	30230128	30230129	+	RNA	INS	-	-	G	rs2523745	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:30230128_30230129insG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							AGGTGAGACATGGGGGGGCCTG	0.510													8	278	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													7	285	---	---	---	---					
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:30610713_30610714insC	ENST00000376483.4	+	10	903_904	c.893_894insC	c.(892-894)tccfs	p.S298fs	ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000468713.1_Intron			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	298							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658													7	610	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608162	31608163	+	Splice_Site	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31608162_31608163insG	ENST00000404765.2	-	23	3426_3427	c.3138_splice	c.e23+1	p.R1046_splice	BAG6_ENST00000362049.6_Splice_Site_p.R1010_splice|BAG6_ENST00000375964.6_Splice_Site_p.R1016_splice|BAG6_ENST00000211379.5_Splice_Site_p.R1010_splice|BAG6_ENST00000375976.4_Splice_Site_p.R1010_splice|BAG6_ENST00000439687.2_Intron			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1016					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGACACTTACTGGGGGGACTGC	0.554													8	621	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													18	485	---	---	---	---					
CLIC1	1192	broad.mit.edu	37	6	31701701	31701702	+	Frame_Shift_Ins	INS	-	-	C	rs1049227		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:31701701_31701702insC	ENST00000375780.2	-	4	758_759	c.186_187insG	c.(184-189)ggagctfs	p.A63fs	CLIC1_ENST00000395892.1_Frame_Shift_Ins_p.A63fs|CLIC1_ENST00000375779.2_Frame_Shift_Ins_p.A63fs|CLIC1_ENST00000375784.3_Frame_Shift_Ins_p.A63fs			O00299	CLIC1_HUMAN	chloride intracellular channel 1	63	Required for insertion into the membrane.			Q -> E (in Ref. 1; AAC25675 and 3; AAD26137).	signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						AATGGGAGCTGCCCCCCTGGGC	0.564													7	515	---	---	---	---					
SLC39A7	7922	broad.mit.edu	37	6	33171547	33171548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:33171547_33171548insG	ENST00000374677.3	+	7	1740_1741	c.1367_1368insG	c.(1366-1368)cggfs	p.R456fs	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.R456fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	456				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGGGGCTGCTGGGGGGAGTTA	0.564													7	206	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(508-513)agggggfs	p.RG170fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619													10	420	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	252	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42237000	42237001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:42237000_42237001insC	ENST00000541110.1	-	5	896_897	c.328_329insG	c.(328-330)accfs	p.T110fs	TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.T110fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	110					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGCTGGTGCCCCCCACATC	0.584													9	531	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													18	269	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													13	786	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													7	425	---	---	---	---					
AKAP12	9590	broad.mit.edu	37	6	151670999	151671000	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:151670999_151671000insC	ENST00000402676.2	+	4	1713_1714	c.1473_1474insC	c.(1471-1476)aaccccfs	p.NP491fs	AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.NP491fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.NP386fs|AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.NP393fs	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	491	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCTGTCCAAACCCCCCGAAGG	0.525													7	365	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155750039	155750040	+	Frame_Shift_Ins	INS	-	-	G	rs79326507	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:155750039_155750040insG	ENST00000159060.2	-	9	1135_1136	c.1033_1034insC	c.(1033-1035)ggafs	p.G345fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	345	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAAGTCCTCCTGGGGGGCAGAG	0.614													8	181	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157522543	157522543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:157522543delG	ENST00000346085.5	+	18	4816	c.4815delG	c.(4813-4815)gafs	p.E1605fs	ARID1B_ENST00000367148.1_Frame_Shift_Del_p.E1645fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.E1592fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.E1587fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1592					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAGAAGGGAGATCACCTTTC	0.512													55	161	---	---	---	---					
TAGAP	117289	broad.mit.edu	37	6	159457430	159457430	+	Frame_Shift_Del	DEL	C	C	-	rs116639718	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr6:159457430delC	ENST00000367066.3	-	10	1956	c.1625delG	c.(1624-1626)gtfs	p.G542fs	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Frame_Shift_Del_p.G364fs	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	542					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTTTCTGACACCCCTCGGGAC	0.567													37	96	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													8	197	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148052	27148053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:27148052_27148053insG	ENST00000396352.4	-	3	1012_1013	c.813_814insC	c.(811-816)ccgagcfs	p.S272fs	HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.S272fs|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	272					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCACCGGCTCCGGGGGGCACGG	0.619													8	401	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													9	359	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													9	770	---	---	---	---					
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:51287561_51287562insG	ENST00000395542.2	-	2	305_306	c.121_122insC	c.(121-123)cgafs	p.R41fs	COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs|COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604													7	155	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													18	918	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													11	190	---	---	---	---					
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)catfs	p.H720fs	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	720					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AATGATGATGTGGGGGGGATCC	0.505										HNSCC(24;0.065)			9	120	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													15	2042	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													10	710	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													8	410	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													7	297	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													8	804	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:18680349_18680350insG	ENST00000380548.4	+	11	1515_1516	c.1176_1177insG	c.(1174-1179)tgggggfs	p.WG392fs	ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.WG392fs|ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.WG375fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.WG392fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	392	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584													7	46	---	---	---	---					
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)ccagtcfs	p.V165fs	FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644													10	128	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													11	275	---	---	---	---					
PAX5	5079	broad.mit.edu	37	9	36882049	36882050	+	Frame_Shift_Ins	INS	-	-	G	rs34810717	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:36882049_36882050insG	ENST00000358127.4	-	8	1037_1038	c.963_964insC	c.(961-966)ccctggfs	p.W322fs	PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000522003.1_Frame_Shift_Ins_p.W214fs|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000414447.1_Frame_Shift_Ins_p.W279fs|PAX5_ENST00000377853.2_Frame_Shift_Ins_p.W322fs|PAX5_ENST00000520281.1_Frame_Shift_Ins_p.W279fs	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	322			A -> T (in dbSNP:rs34810717).		cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)|p.A322fs*19(3)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CCCTGTCCAGCGGGGGGGACGT	0.639			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								7	153	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													8	452	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													10	229	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													19	605	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				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)	GGTGTGGTTCTGGGGGGCTGTG	0.450													7	500	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								7	352	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30315843	30315844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:30315843_30315844insG	ENST00000375377.1	-	3	3334_3335	c.3233_3234insC	c.(3232-3234)cggfs	p.R1078fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1078										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						AGGACTCACCTGGGGGGATTTC	0.619													7	539	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													13	218	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.520													12	423	---	---	---	---					
CCDC6	8030	broad.mit.edu	37	10	61666039	61666040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:61666039_61666040insC	ENST00000263102.6	-	1	374_375	c.143_144insG	c.(142-144)gatfs	p.D48fs		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	48						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AGATGACAATGCCCCCCGACTT	0.678			T	RET	NSCLC								7	225	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													9	1143	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					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)					TTCCCACAGTTCCCCCCCAGTA	0.510													28	635	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1716)cccfs	p.P572fs	CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.510													7	717	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													10	432	---	---	---	---					
NOC3L	64318	broad.mit.edu	37	10	96112093	96112093	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:96112093delA	ENST00000371361.3	-	8	1026	c.926delT	c.(925-927)tgfs	p.L309fs	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.L47fs|NOC3L_ENST00000371350.1_Frame_Shift_Del_p.L309fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	309						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAGATTTTCCAAATAAAACTT	0.328													9	20	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123988973	123988974	+	Frame_Shift_Ins	INS	-	-	C	rs147846497		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:123988973_123988974insC	ENST00000369005.1	+	15	8349_8350	c.8009_8010insC	c.(8008-8010)accfs	p.T2670fs	TACC2_ENST00000453444.2_Intron|TACC2_ENST00000360561.3_Frame_Shift_Ins_p.T748fs|TACC2_ENST00000369004.3_Frame_Shift_Ins_p.T760fs|TACC2_ENST00000334433.3_Frame_Shift_Ins_p.T2670fs|TACC2_ENST00000368999.1_Frame_Shift_Ins_p.T760fs|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000358010.1_Frame_Shift_Ins_p.T816fs|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000260733.3_Frame_Shift_Ins_p.T748fs|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000513429.1_Frame_Shift_Ins_p.T816fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2670						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCAGAAAAGAACCCCCCACTAT	0.545													8	446	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													7	203	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													9	611	---	---	---	---					
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)gtcfs	p.V968fs	DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.480													7	909	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.520													37	894	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													10	866	---	---	---	---					
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-390)cttfs	p.L130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.460													7	1748	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1035)accfs	p.T345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515													7	199	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													9	416	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													13	687	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000278893.7_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													12	192	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													9	228	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													9	731	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													12	955	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118344185	118344186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:118344185_118344186insC	ENST00000534358.1	+	3	2334_2335	c.2311_2312insC	c.(2311-2313)cccfs	p.P771fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.P771fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.P771fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CTCACCTCTCACCCCCCCGTCT	0.450													16	302	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cggfs	p.R200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													8	277	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		AGCGCTGGACGCCCCCCTCTTT	0.589													13	1247	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													16	1553	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													14	161	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)cggfs	p.R812fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594													7	402	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													7	361	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													15	1138	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													13	157	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46246304	46246304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:46246304delT	ENST00000334344.6	+	15	4570	c.4398delT	c.(4396-4398)agfs	p.S1466fs	ARID2_ENST00000457135.1_Frame_Shift_Del_p.S74fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.S1076fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.S1317fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1466					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACGCCCAAGTGTAGTTGTCT	0.443			"""N, S, F"""		hepatocellular carcinoma								30	491	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													8	288	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.500													15	181	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													12	464	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													17	3360	---	---	---	---					
SUOX	6821	broad.mit.edu	37	12	56398690	56398693	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:56398690_56398693delTTGT	ENST00000394109.3	+	3	2241_2244	c.1517_1520delTTGT	c.(1516-1521)atfs	p.IV506fs	SUOX_ENST00000266971.3_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000356124.4_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.IV506fs			P51687	SUOX_HUMAN	sulfite oxidase	506	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAACTGAACATTGTTTGTAAGGCT	0.559													9	565	---	---	---	---					
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cgafs	p.R689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		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						TGGTGAAGTCAGGGGGGAGGCT	0.569													8	681	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													10	674	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													41	791	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000545204.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								17	501	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						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)			GGTGAGGCCCTGGGGGGGTTTC	0.594													15	254	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			12	288	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													9	889	---	---	---	---					
UBE3B	89910	broad.mit.edu	37	12	109927823	109927824	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:109927823_109927824insC	ENST00000537063.1	+	8	881_882	c.644_645insC	c.(643-645)tccfs	p.S215fs	UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000342494.3_Intron			Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTGACTCCTGCCCCCCAGTGT	0.465													8	157	---	---	---	---					
SH2B3	10019	broad.mit.edu	37	12	111885144	111885145	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:111885144_111885145insG	ENST00000341259.2	+	6	1389_1390	c.1032_1033insG	c.(1030-1035)ccggggfs	p.PG344fs	SH2B3_ENST00000538307.1_Frame_Shift_Ins_p.PG142fs	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	344					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GTGCTTCTCCTGGGGGGCTGCT	0.599													7	270	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													8	979	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													10	229	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													11	406	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133226298	133226298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:133226298delT	ENST00000320574.5	-	30	3803	c.3760delA	c.(3760-3762)tcfs	p.I1254fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.I1227fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1254					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGCCCCAAGATTTCCTGCCAG	0.627								DNA polymerases (catalytic subunits)					148	305	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					8	206	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs141115887	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr12:133277869_133277870insG	ENST00000545677.1	+	3	250_251	c.47_48insG	c.(46-48)gggfs	p.G16fs	PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													7	135	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													11	279	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													12	807	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:77641916_77641917insG	ENST00000407578.2	-	71	12520_12521	c.12254_12255insC	c.(12253-12255)cgcfs	p.R4085fs	MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436													11	393	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													8	453	---	---	---	---					
CARS2	79587	broad.mit.edu	37	13	111335435	111335435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr13:111335435delT	ENST00000257347.4	-	6	681	c.618delA	c.(616-618)aafs	p.K206fs	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	206					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	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)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGCCGACCAATTTGCCATACT	0.522													138	263	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													8	1016	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													8	335	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													7	464	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													8	194	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													7	506	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													17	252	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													11	236	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													7	785	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	346	---	---	---	---					
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs11542063	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(364-369)acccccfs	p.TP122fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	122					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TCTGTGCCACGCCCCCCGATGA	0.530													8	305	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													10	1251	---	---	---	---					
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr15:101775436_101775437insC	ENST00000254190.3	-	2	1141_1142	c.666_667insG	c.(664-669)ggctggfs	p.W223fs		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	223					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614													7	123	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)cccfs	p.P1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525													7	812	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													9	691	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													8	303	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													8	80	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)accfs	p.T814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574													8	146	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													10	239	---	---	---	---					
MYLPF	29895	broad.mit.edu	37	16	30389139	30389140	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:30389139_30389140insC	ENST00000322861.7	+	7	509_510	c.428_429insC	c.(427-429)tccfs	p.S143fs		NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	myosin light chain, phosphorylatable, fast skeletal muscle	143	EF-hand 3.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TGGGCGGCCTTCCCCCCCGACG	0.673													9	155	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													18	1117	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													10	373	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.606_splice	c.e6-1	p.T203_splice						nuclear pore complex interacting protein family, member B15																		CTTTTTCAGATCCCCCCTTCTG	0.455													7	1257	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					9	1011	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													10	702	---	---	---	---					
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1642-1647)ctccccfs	p.LP548fs	ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	509							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594													8	355	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:4884523_4884524insC	ENST00000361571.5	-	7	1104_1105	c.693_694insG	c.(691-696)ggttggfs	p.W232fs	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.550											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	682	---	---	---	---					
BCL6B	255877	broad.mit.edu	37	17	6927857	6927858	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:6927857_6927858insC	ENST00000293805.5	+	4	631_632	c.539_540insC	c.(538-540)gccfs	p.A180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.					nucleus	zinc ion binding	p.S183fs*6(1)		skin(1)	1						TGCAGTCAAGGCCCCCCCAGTC	0.619													10	126	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													27	456	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(982-987)ggccccfs	p.GP328fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	328					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574													12	258	---	---	---	---					
UBBP4	23666	broad.mit.edu	37	17	21731488	21731489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:21731488_21731489insC	ENST00000578713.1	+	2	567_568	c.563_564insC	c.(562-564)accfs	p.T188fs	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GAAGAAGGCATCCCCCCCGATC	0.535													7	116	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:31439004_31439005insC	ENST00000225823.2	-	2	1661_1662	c.789_790insG	c.(787-792)ggcaggfs	p.R264fs	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|RP11-40A13.1_ENST00000584688.1_RNA	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.550													7	296	---	---	---	---					
MLLT6	4302	broad.mit.edu	37	17	36868997	36868998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:36868997_36868998insC	ENST00000325718.7	+	8	865_866	c.774_775insC	c.(772-777)tcccccfs	p.SP258fs	MLLT6_ENST00000378137.5_Frame_Shift_Ins_p.SP258fs	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	258					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGCCTGAGTCGCCCCCCAGCAT	0.614			T	MLL	AL								7	318	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													15	515	---	---	---	---					
OSBPL7	114881	broad.mit.edu	37	17	45886342	45886343	+	Frame_Shift_Ins	INS	-	-	G	rs143462261		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:45886342_45886343insG	ENST00000007414.3	-	21	2375_2376	c.2184_2185insC	c.(2182-2187)ccaccafs	p.P729fs	OSBPL7_ENST00000392507.3_Frame_Shift_Ins_p.P729fs	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	729					lipid transport		lipid binding	p.D729fs*3(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CGCTCATGGTCGGGGGGCATTG	0.619													12	474	---	---	---	---					
SKAP1	8631	broad.mit.edu	37	17	46262152	46262153	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:46262152_46262153insG	ENST00000336915.6	-	7	568_569	c.499_500insC	c.(499-501)cctfs	p.P167fs	SKAP1_ENST00000584924.1_Frame_Shift_Ins_p.P167fs	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	167	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCTTCGCAGGTGGGGGGCCATC	0.530													10	570	---	---	---	---					
ABCC3	8714	broad.mit.edu	37	17	48746263	48746264	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:48746263_48746264insC	ENST00000285238.8	+	15	2000_2001	c.1920_1921insC	c.(1918-1923)ctccccfs	p.LP640fs		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	640	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCAGGACCTGCCCCCCACTCT	0.609													7	208	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													20	1047	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													7	163	---	---	---	---					
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr17:63532584_63532585insC	ENST00000307078.5	-	8	2307_2308	c.1994_1995insG	c.(1993-1995)gaafs	p.E665fs	AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				7	60	---	---	---	---					
RALBP1	10928	broad.mit.edu	37	18	9516929	9516929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:9516929delG	ENST00000019317.4	+	3	554	c.331delG	c.(331-333)ttfs	p.V111fs	RALBP1_ENST00000383432.3_Frame_Shift_Del_p.V111fs			Q15311	RBP1_HUMAN	ralA binding protein 1	111					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GGGAATCCATGTTTTCAAGAA	0.383													20	61	---	---	---	---					
CTAGE1	64693	broad.mit.edu	37	18	19996490	19996491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:19996490_19996491insT	ENST00000391403.2	-	1	1387_1388	c.1284_1285insA	c.(1282-1287)aacacafs	p.NT428fs		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	428						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTATCATGTGCTTTTTTCTCAT	0.351													22	49	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							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						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	542	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													20	342	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	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						GGAAGGGGAGAGGGGGGGATAT	0.530													9	351	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													11	178	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	1147	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12155708_12155709insT	ENST00000602107.1	-	5	647_648	c.648_649insA	c.(646-651)aacctafs	p.NL216fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs			C9JN71	ZN878_HUMAN	zinc finger protein 878	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411													8	449	---	---	---	---					
ASNA1	439	broad.mit.edu	37	19	12858847	12858848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:12858847_12858848insG	ENST00000591090.1	+	8	1078_1079	c.976_977insG	c.(976-978)gggfs	p.G326fs	ASNA1_ENST00000357332.3_Frame_Shift_Ins_p.G326fs			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	326					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CCATGAGGTGCGGGGGGCAGAC	0.624													8	287	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gctfs	p.A139fs	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569													9	321	---	---	---	---					
KIAA0355	9710	broad.mit.edu	37	19	34824651	34824652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:34824651_34824652insC	ENST00000299505.6	+	8	2179_2180	c.1306_1307insC	c.(1306-1308)cccfs	p.P436fs		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	436										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGAAGCCTATGCCCCCCAGATC	0.426													8	162	---	---	---	---					
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)ccggcgfs	p.A158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614													7	521	---	---	---	---					
GRIK5	2901	broad.mit.edu	37	19	42525518	42525519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42525518_42525519insC	ENST00000262895.3	-	14	1804_1805	c.1805_1806insG	c.(1804-1806)gttfs	p.V602fs	GRIK5_ENST00000301218.4_Frame_Shift_Ins_p.V602fs|GRIK5_ENST00000593562.1_Frame_Shift_Ins_p.V602fs	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	602						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTGCATGAAGCCCCCCACGGG	0.639													7	200	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	62					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCTTGATCTGGGGGGGAGAG	0.634													10	299	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													22	1043	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													14	284	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													10	222	---	---	---	---					
ZNF256	10172	broad.mit.edu	37	19	58452839	58452840	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr19:58452839_58452840delCT	ENST00000282308.3	-	3	1532_1533	c.1336_1337delAG	c.(1336-1338)gfs	p.R446fs	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	446					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTCAAATTTCCTGCTAAATAAT	0.381													8	177	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													7	216	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													18	335	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													8	519	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													15	608	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-678)attfs	p.I226fs	PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGTAAGTACAGTTTTTTGGATA	0.520													7	1150	---	---	---	---					
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cacfs	p.H67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564													7	210	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													7	703	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													8	247	---	---	---	---					
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1881)cccfs	p.P627fs	OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													7	136	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													7	238	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	157	---	---	---	---					
CLCN4	1183	broad.mit.edu	37	X	10188762	10188763	+	Frame_Shift_Ins	INS	-	-	C	rs142375213		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:10188762_10188763insC	ENST00000380833.4	+	12	2428_2429	c.2037_2038insC	c.(2035-2040)gaccccfs	p.DP679fs	CLCN4_ENST00000380829.1_Frame_Shift_Ins_p.DP648fs|CLCN4_ENST00000421085.2_Frame_Shift_Ins_p.DP585fs	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	679						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGCT	0.564													9	375	---	---	---	---					
FIGF	2277	broad.mit.edu	37	X	15373323	15373324	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:15373323_15373324insG	ENST00000297904.3	-	4	1018_1019	c.589_590insC	c.(589-591)ccafs	p.P197fs		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	197					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GTATGGATGGCGGGGGGCTGTT	0.406													7	365	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)gggfs	p.G133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	133					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495													7	845	---	---	---	---					
PHKA2	5256	broad.mit.edu	37	X	18961909	18961920	+	In_Frame_Del	DEL	AATTGCCTCAAG	AATTGCCTCAAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:18961909_18961920delAATTGCCTCAAG	ENST00000379942.4	-	7	1290_1301	c.625_636delCTTGAGGCAATT	c.(625-636)del	p.LEAI209del		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	209					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAGTTCATCAATTGCCTCAAGAGCTGCCTAC	0.415													107	383	---	---	---	---					
MED14	9282	broad.mit.edu	37	X	40531171	40531172	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:40531171_40531172insG	ENST00000324817.1	-	23	3192_3193	c.3074_3075insC	c.(3073-3075)cacfs	p.H1025fs		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1025	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATAAGATGTAGGGGGTGAAGT	0.411													9	1640	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													10	1678	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													14	555	---	---	---	---					
PRICKLE3	4007	broad.mit.edu	37	X	49032154	49032155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:49032154_49032155insG	ENST00000376317.3	-	9	1809_1810	c.1715_1716insC	c.(1714-1716)ccafs	p.P572fs	PRICKLE3_ENST00000538114.1_Frame_Shift_Ins_p.P396fs|PRICKLE3_ENST00000536904.1_Frame_Shift_Ins_p.P491fs|PRICKLE3_ENST00000540849.1_Frame_Shift_Ins_p.P504fs	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	572							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TGCACAAATGCGGGGGCAGAGG	0.589													7	845	---	---	---	---					
P2RY4	5030	broad.mit.edu	37	X	69478417	69478418	+	Frame_Shift_Ins	INS	-	-	G	rs149121464	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:69478417_69478418insG	ENST00000374519.2	-	1	1236_1237	c.1057_1058insC	c.(1057-1059)ggafs	p.G353fs		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	353					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCTACTGTCCTGGGGGGTGGCC	0.629													8	332	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70330448	70330449	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:70330448_70330449insT	ENST00000374202.2	-	3	450_451	c.359_360insA	c.(358-360)agafs	p.R120fs	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	120					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGTGGATCTCCTTTTTTTGCAA	0.450									Severe Combined Immunodeficiency, X-linked				7	345	---	---	---	---					
KLHL13	90293	broad.mit.edu	37	X	117033056	117033057	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:117033056_117033057insC	ENST00000371876.1	-	6	4050_4051	c.1629_1630insG	c.(1627-1632)ggattcfs	p.F544fs	KLHL13_ENST00000545703.1_Frame_Shift_Ins_p.F553fs|KLHL13_ENST00000262820.3_Frame_Shift_Ins_p.F595fs|KLHL13_ENST00000371882.1_Frame_Shift_Ins_p.F544fs|KLHL13_ENST00000469946.1_Frame_Shift_Ins_p.F544fs|KLHL13_ENST00000541812.1_Frame_Shift_Ins_p.F579fs|KLHL13_ENST00000539496.1_Frame_Shift_Ins_p.F598fs|KLHL13_ENST00000371878.1_Frame_Shift_Ins_p.F544fs|KLHL13_ENST00000540167.1_Frame_Shift_Ins_p.F579fs			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	595					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCCAAGAATACCCCCCAACCA	0.441													7	224	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	333c5bbe-e69c-408e-ac80-91b0d8ad44c1	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)aaafs	p.K119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	119					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.530													10	415	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44877877	44877887	+	Frame_Shift_Del	DEL	TGATGCTTCCA	TGATGCTTCCA	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:44877877_44877887delTGATGCTTCCA	ENST00000355387.2	+	2	558_568	c.108_118delTGATGCTTCCA	c.(106-120)cgtcfs	p.RDASI36fs	RNF220_ENST00000361799.2_Frame_Shift_Del_p.RDASI36fs|RNF220_ENST00000372247.2_Frame_Shift_Del_p.RDASI36fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	36					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGGCCAGCCGTGATGCTTCCATCCCTTGTCA	0.545													27	524	---	---	---	---					
ALG6	29929	broad.mit.edu	37	1	63902501	63902506	+	In_Frame_Del	DEL	TCTCAG	TCTCAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:63902501_63902506delTCTCAG	ENST00000371108.4	+	15	1639_1644	c.1334_1339delTCTCAG	c.(1333-1341)atc>a	p.ISV445del	ALG6_ENST00000494765.1_3'UTR|ALG6_ENST00000263440.4_In_Frame_Del_p.ISV447del	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	445					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTTTCTTATCTCAGTCATCACTAT	0.369													82	294	---	---	---	---					
CREB3L4	148327	broad.mit.edu	37	1	153941096	153941097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr1:153941096_153941097insC	ENST00000368607.3	+	2	361_362	c.95_96insC	c.(94-96)tccfs	p.S32fs	CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368601.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368603.1_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000368600.3_Frame_Shift_Ins_p.S32fs|CREB3L4_ENST00000271889.4_Frame_Shift_Ins_p.S32fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	32					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGACTCCACTGCCCCCCTCCAG	0.614													7	208	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152422253	152422254	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr2:152422253_152422254insA	ENST00000397345.3	-	115	18439_18440	c.18237_18238insT	c.(18235-18240)acagaafs	p.E6080fs	NEB_ENST00000427231.2_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.E4379fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.E6080fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.E4379fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6074					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)		TCCTGGTTCTTAGTAACCCTTA	0.505													16	59	---	---	---	---					
IL17RC	84818	broad.mit.edu	37	3	9974537	9974538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:9974537_9974538insG	ENST00000295981.3	+	18	1948_1949	c.1730_1731insG	c.(1729-1731)tggfs	p.W577fs	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.W506fs|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.W474fs|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.W491fs|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000416074.2_Intron	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	577						integral to membrane|plasma membrane	receptor activity	p.S577L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGTCCGCTCGGGGGGTGAGT	0.693											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
CX3CR1	1524	broad.mit.edu	37	3	39307167	39307167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr3:39307167delA	ENST00000541347.1	-	2	1073	c.834delT	c.(832-834)acfs	p.T278fs	CX3CR1_ENST00000399220.2_Frame_Shift_Del_p.T278fs|CX3CR1_ENST00000358309.3_Frame_Shift_Del_p.T310fs|CX3CR1_ENST00000542107.1_Frame_Shift_Del_p.T278fs	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	278					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)		CAACCGTCTCAGTCACACTGA	0.473													42	345	---	---	---	---					
RPL26L1	51121	broad.mit.edu	37	5	172386937	172386938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr5:172386937_172386938insC	ENST00000521476.1	+	2	185_186	c.61_62insC	c.(61-63)cccfs	p.P21fs	RPL26L1_ENST00000519974.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000519239.1_Frame_Shift_Ins_p.P21fs|RPL26L1_ENST00000265100.2_Frame_Shift_Ins_p.P21fs			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	21					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACTTCAATGCCCCCTCACAC	0.559													9	1664	---	---	---	---					
ABCC10	89845	broad.mit.edu	37	6	43415444	43415445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:43415444_43415445insG	ENST00000244533.3	+	16	4003_4004	c.3644_3645insG	c.(3643-3645)cggfs	p.R1215fs	ABCC10_ENST00000372530.4_Frame_Shift_Ins_p.R1243fs	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1243						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)			TGGCTGACCCAGGGGGGCGTGG	0.649													7	419	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157522543	157522543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:157522543delG	ENST00000346085.5	+	18	4816	c.4815delG	c.(4813-4815)gafs	p.E1605fs	ARID1B_ENST00000367148.1_Frame_Shift_Del_p.E1645fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.E1587fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.E1592fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1592					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAGAAGGGAGATCACCTTTC	0.512													55	161	---	---	---	---					
TAGAP	117289	broad.mit.edu	37	6	159457430	159457430	+	Frame_Shift_Del	DEL	C	C	-	rs116639718	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr6:159457430delC	ENST00000367066.3	-	10	1956	c.1625delG	c.(1624-1626)gtfs	p.G542fs	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Frame_Shift_Del_p.G364fs	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	542					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTTTCTGACACCCCTCGGGAC	0.567													37	96	---	---	---	---					
LINC00265	349114	broad.mit.edu	37	7	39803363	39803364	+	RNA	DEL	CT	CT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:39803363_39803364delCT	ENST00000340510.4	+	0	413					NR_026999.1																						ccctccctccctctctctctcc	0.480													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													9	16	---	---	---	---					
CYC1	1537	broad.mit.edu	37	8	145150875	145150876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr8:145150875_145150876insC	ENST00000318911.4	+	2	342_343	c.269_270insC	c.(268-270)cccfs	p.P90fs		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	90					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAGCTGCACCCCCCCAGCT	0.668											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	50	---	---	---	---					
TAF1L	138474	broad.mit.edu	37	9	32630358	32630359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:32630358_32630359insC	ENST00000242310.4	-	1	5308_5309	c.5219_5220insG	c.(5218-5220)ggafs	p.G1740fs		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1740					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GATCACCATCTCCCCCTTCTGG	0.500													9	834	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98211548	98211549	+	Frame_Shift_Ins	INS	-	-	G	rs138240178	byFrequency	TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr9:98211548_98211549insG	ENST00000430669.2	-	22	3993_3994	c.3408_3409insC	c.(3406-3411)ccgcgtfs	p.R1137fs	PTCH1_ENST00000429896.2_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000437951.1_Frame_Shift_Ins_p.R1137fs|PTCH1_ENST00000418258.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000375274.2_Frame_Shift_Ins_p.R1202fs|PTCH1_ENST00000421141.1_Frame_Shift_Ins_p.R1052fs|PTCH1_ENST00000331920.6_Frame_Shift_Ins_p.R1203fs			Q13635	PTC1_HUMAN	patched 1	1203					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CGGACCACGCTGGGGGGTGGCT	0.594													2	4	---	---	---	---					
NOC3L	64318	broad.mit.edu	37	10	96112093	96112093	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr10:96112093delA	ENST00000371361.3	-	8	1026	c.926delT	c.(925-927)tgfs	p.L309fs	NOC3L_ENST00000371350.1_Frame_Shift_Del_p.L309fs|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Frame_Shift_Del_p.L47fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	309						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAGATTTTCCAAATAAAACTT	0.328													9	20	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46246304	46246304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:46246304delT	ENST00000334344.6	+	15	4570	c.4398delT	c.(4396-4398)agfs	p.S1466fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.S1076fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.S74fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.S1317fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1466					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACGCCCAAGTGTAGTTGTCT	0.443			"""N, S, F"""		hepatocellular carcinoma								30	491	---	---	---	---					
SUOX	6821	broad.mit.edu	37	12	56398690	56398693	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:56398690_56398693delTTGT	ENST00000394109.3	+	3	2241_2244	c.1517_1520delTTGT	c.(1516-1521)atfs	p.IV506fs	SUOX_ENST00000356124.4_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000266971.3_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000548274.1_Frame_Shift_Del_p.IV506fs|SUOX_ENST00000394115.2_Frame_Shift_Del_p.IV506fs			P51687	SUOX_HUMAN	sulfite oxidase	506	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GAACTGAACATTGTTTGTAAGGCT	0.559													9	565	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133226298	133226298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr12:133226298delT	ENST00000320574.5	-	30	3803	c.3760delA	c.(3760-3762)tcfs	p.I1254fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.I1227fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1254					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGCCCCAAGATTTCCTGCCAG	0.627								DNA polymerases (catalytic subunits)					148	305	---	---	---	---					
CARS2	79587	broad.mit.edu	37	13	111335435	111335435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr13:111335435delT	ENST00000257347.4	-	6	681	c.618delA	c.(616-618)aafs	p.K206fs	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	206					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	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)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGCCGACCAATTTGCCATACT	0.522													138	263	---	---	---	---					
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488													2	4	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													4	9	---	---	---	---					
RALBP1	10928	broad.mit.edu	37	18	9516929	9516929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr18:9516929delG	ENST00000019317.4	+	3	554	c.331delG	c.(331-333)ttfs	p.V111fs	RALBP1_ENST00000383432.3_Frame_Shift_Del_p.V111fs			Q15311	RBP1_HUMAN	ralA binding protein 1	111					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GGGAATCCATGTTTTCAAGAA	0.383													20	61	---	---	---	---					
CTAGE1	64693	broad.mit.edu	37	18	19996490	19996491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr18:19996490_19996491insT	ENST00000391403.2	-	1	1387_1388	c.1284_1285insA	c.(1282-1287)aacacafs	p.NT428fs		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	428						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTATCATGTGCTTTTTTCTCAT	0.351													22	49	---	---	---	---					
ZNF256	10172	broad.mit.edu	37	19	58452839	58452840	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chr19:58452839_58452840delCT	ENST00000282308.3	-	3	1532_1533	c.1336_1337delAG	c.(1336-1338)gfs	p.R446fs	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	446					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTCAAATTTCCTGCTAAATAAT	0.381													8	177	---	---	---	---					
PHKA2	5256	broad.mit.edu	37	X	18961909	18961920	+	In_Frame_Del	DEL	AATTGCCTCAAG	AATTGCCTCAAG	-			TCGA-AK-3444-01A-01W-0886-08	TCGA-AK-3444-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6e07c3e-4e31-47eb-a595-0d2a511f1caa	27915f8d-ce6e-4d4f-9aba-9832a97ddb26	g.chrX:18961909_18961920delAATTGCCTCAAG	ENST00000379942.4	-	7	1290_1301	c.625_636delCTTGAGGCAATT	c.(625-636)del	p.LEAI209del		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	209					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAGTTCATCAATTGCCTCAAGAGCTGCCTAC	0.415													107	383	---	---	---	---