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
LRRC8C	84230	broad.mit.edu	37	1	90180327	90180327	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:90180327C>G	ENST00000370454.4	+	3	2453	c.2198C>G	c.(2197-2199)aCt>aGt	p.T733S	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	733						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAACTTAAAACTCTGAAGATT	0.338													4	99	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103540313	103540313	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:103540313A>T	ENST00000358392.2	-	4	829	c.512T>A	c.(511-513)gTg>gAg	p.V171E	COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E|COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000370096.3_Missense_Mutation_p.V171E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	171	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTTCTCCACGCTGATTGC	0.383													25	40	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373													5	429	---	---	---	---
ORMDL1	94101	broad.mit.edu	37	2	190636618	190636618	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:190636618C>T	ENST00000325795.3	-	3	1123	c.337G>A	c.(337-339)Gca>Aca	p.A113T	ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	113					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			TAGAAACTTGCCAGAAAATAT	0.328													3	39	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242066448	242066448	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:242066448G>A	ENST00000403638.3	-	10	1973	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	PASK_ENST00000405260.1_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	628					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGGGCTGGGGGCCAAGTCC	0.637													53	44	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196742335	196742335	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr3:196742335C>T	ENST00000296350.5	-	9	1247	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	378	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGTCTCCACACTTCTGGATCT	0.657													6	6	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155254287	155254287	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr4:155254287C>T	ENST00000357232.4	-	9	1575	c.1576G>A	c.(1576-1578)Gtc>Atc	p.V526I	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGCAAAGACGCCTGGCTGC	0.677													17	29	---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134152276	134152276	+	Silent	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:134152276T>C	ENST00000452510.2	+	19	2751	c.2593T>C	c.(2593-2595)Ttg>Ctg	p.L865L	DDX46_ENST00000354283.4_Silent_p.L865L	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	865					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGAAGAATTTGGGCATCGA	0.373													36	45	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531920	140531920	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140531920G>A	ENST00000231136.1	+	1	2082	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	PCDHB6_ENST00000543635.1_Silent_p.S558S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		694					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.692													77	123	---	---	---	---
PCDHB18P	54660	broad.mit.edu	37	5	140615769	140615769	+	RNA	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140615769G>A	ENST00000526308.1	+	0	1832					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTGCTGGTGCGCGTGCTGGTG	0.701													10	106	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76124576	76124576	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr6:76124576T>G	ENST00000393004.2	-	2	334	c.113A>C	c.(112-114)aAg>aCg	p.K38T	FILIP1_ENST00000237172.7_Missense_Mutation_p.K38T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	38	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCTTCTTCTTTTTTGCATC	0.428													80	92	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104330852	104330852	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr8:104330852C>T	ENST00000358755.4	+	3	529	c.212C>T	c.(211-213)cCa>cTa	p.P71L	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	71	FZ.				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GAATGTTCACCAAACATTGAA	0.308													43	50	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104314097	104314097	+	Silent	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:104314097A>G	ENST00000389120.3	+	11	1494	c.1404A>G	c.(1402-1404)caA>caG	p.Q468Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	468					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAATGAACAAGCAGGTATAA	0.433													31	44	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21804625	21804625	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr10:21804625G>A	ENST00000449193.2	-	4	4379	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	SKIDA1_ENST00000444772.3_Silent_p.C630C	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		CATTGCACTCGCACTTTAGCT	0.393													4	195	---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113639666	113639666	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:113639666G>C	ENST00000200135.3	-	2	273	c.129C>G	c.(127-129)agC>agG	p.S43R		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	43	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGTACTTCTTGCTAATCATAT	0.393													35	59	---	---	---	---
NINJ2	4815	broad.mit.edu	37	12	772599	772599	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:772599C>T	ENST00000305108.4	-	1	346	c.66G>A	c.(64-66)acG>acA	p.T22T	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CAGGCTCCGCCGTCTGAGTCT	0.612													4	92	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57957899	57957899	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:57957899G>A	ENST00000455537.2	+	4	574	c.300G>A	c.(298-300)ctG>ctA	p.L100L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	100	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGGGAAAGCTGCACGACCCTC	0.498													18	31	---	---	---	---
FAM71C	196472	broad.mit.edu	37	12	100042107	100042107	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:100042107A>G	ENST00000324341.1	+	1	577	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	52										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GACTTTATCCAGATCAGCAAA	0.507													31	64	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119592130	119592130	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:119592130C>A	ENST00000267260.4	+	12	1862	c.1474C>A	c.(1474-1476)Cct>Act	p.P492T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	492	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCCTACTCGCCTATGAGAAA	0.672													6	16	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31382406	31382406	+	Splice_Site	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr16:31382406G>A	ENST00000268296.4	+	15	1833	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	ITGAX_ENST00000562522.1_Splice_Site_p.R571Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	571					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTGGCCAGCGGATCGCGGGC	0.562													4	117	---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5264971	5264971	+	Splice_Site	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr17:5264971G>C	ENST00000262477.6	+	9	1787		c.e9+1		RABEP1_ENST00000341923.6_Splice_Site|RABEP1_ENST00000546142.2_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|NUP88_ENST00000573169.1_5'UTR	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GCAGAAAGAGGTGAGTTACCT	0.498													6	9	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15763396	15763396	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr19:15763396G>A	ENST00000221307.8	+	8	983	c.936G>A	c.(934-936)aaG>aaA	p.K312K	CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000591058.1_Silent_p.K312K|CYP4F3_ENST00000586182.2_Silent_p.K312K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ATGGGAAGAAGTTGTCCGATG	0.517													5	119	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34782245	34782245	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:34782245G>A	ENST00000338074.2	+	12	1573	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	471					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTGAGGAGGGAGAGGTCAGG	0.607													4	11	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44671824	44671824	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:44671824G>A	ENST00000243964.3	+	9	1197	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	SLC12A5_ENST00000454036.2_Missense_Mutation_p.V390M	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	390					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCAAGGGCGTGATTGTGGA	0.582													77	105	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3235405	3235405	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:3235405G>C	ENST00000217939.6	-	6	6471	c.6317C>G	c.(6316-6318)aCg>aGg	p.T2106R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2106	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGTAGAGCGTCCCGTTGGG	0.677													10	2	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14883152	14883152	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:14883152C>A	ENST00000398334.1	-	3	748	c.481G>T	c.(481-483)Gtt>Ttt	p.V161F	FANCB_ENST00000324138.3_Missense_Mutation_p.V161F	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	161					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GACACACTAACAACTTTGCCA	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	8	---	---	---	---
EXOSC10	5394	broad.mit.edu	37	1	11155880	11155881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:11155880_11155881insT	ENST00000544779.1	-	3	311_312	c.306_307insA	c.(304-309)aaagtgfs	p.V103fs	EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.V103fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.V103fs			Q01780	EXOSX_HUMAN	exosome component 10	103					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGCTCAGTCACTTTACTTCGAT	0.381													74	127	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55405837	55405838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:55405837_55405838insA	ENST00000314612.2	+	1	4_5	c.4_5insA	c.(4-6)gaafs	p.E2fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTGGACCATGGAAAAAAGCAAT	0.302													61	28	---	---	---	---
