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
CUX1	1523	broad.mit.edu	37	7	101870904	101870904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:101870904G>T	ENST00000360264.3	+	21	3441	c.3421G>T	c.(3421-3423)Ggc>Tgc	p.G1141C	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G972C|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1028C|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G1074C|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1130C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1108C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1130					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G1130C(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGACACCTACGGCATAACCAA	0.607000													26	82					3.69857e-22	6.12e-22	0.008361	1	0
HPCAL4	51440	broad.mit.edu	37	1	40148339	40148339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:40148339G>T	ENST00000372844.3	-	4	836	c.445C>A	c.(445-447)Cag>Aag	p.Q149K		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	149	EF-hand 4.				central nervous system development	intracellular	calcium ion binding	p.Q149K(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCACACGCTGCTGGGGCGTG	0.547000													52	129					6.3008e-33	1.11662e-32	0.003610	1	0
ACOX3	8310	broad.mit.edu	37	4	8418165	8418165	+	Silent	SNP	C	C	T	rs35092737	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:8418165C>T	ENST00000356406.5	-	2	161	c.84G>A	c.(82-84)gcG>gcA	p.A28A	ACOX3_ENST00000503233.1_Silent_p.A28A|ACOX3_ENST00000413009.2_Silent_p.A28A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	28					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.A28A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGCTGAAGGACGCTCTTGCTC	0.607000													16	132					0	0	0.004007	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30882156	30882156	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:30882156C>T	ENST00000251071.5	-	8	1958	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R403H|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R70H|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R403H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R403H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	403					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.R403H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATATCCCAACGTTTTGGGAG	0.443000													28	85					0	0	0.008361	0	0
RBAK	57786	broad.mit.edu	37	7	5103997	5103997	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:5103997C>T	ENST00000396912.1	+	5	1429	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.L304F|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	304					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L304F(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAGGGAACCCTCACTGTACA	0.418000													18	59					0	0	0.004990	0	0
AKAP1	8165	broad.mit.edu	37	17	55193622	55193622	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:55193622G>C	ENST00000337714.3	+	7	2665	c.2432_splice	c.e7+1	p.R811_splice	AKAP1_ENST00000539273.1_Splice_Site_p.R811_splice|AKAP1_ENST00000571629.1_Splice_Site_p.R811_splice|AKAP1_ENST00000572557.1_Splice_Site_p.R811_splice	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	811	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.R811T(2)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGGCAAATCAGGTGAGCGGAG	0.572000													26	101					0	0	0.004656	0	0
ANK1	286	broad.mit.edu	37	8	41581079	41581079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41581079C>A	ENST00000396942.1	-	8	867	c.784G>T	c.(784-786)Gga>Tga	p.G262*	ANK1_ENST00000265709.8_Nonsense_Mutation_p.G295*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.G262*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.G262*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.G262*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.G262*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.G262*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	262	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G295*(2)|p.G262*(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATCTGGGCTCCCCGATCCAGC	0.652000													23	75					1.10513e-12	1.57613e-12	0.002299	1	0
OR6C74	254783	broad.mit.edu	37	12	55641435	55641435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:55641435G>T	ENST00000343870.4	+	1	454	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122L(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAGCGCTATGTGGCCATCTG	0.463000													57	137					2.67592e-24	4.54073e-24	0.003610	1	0
MSRB2	22921	broad.mit.edu	37	10	23409753	23409753	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:23409753A>C	ENST00000376510.3	+	5	614	c.511A>C	c.(511-513)Aac>Cac	p.N171H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	171					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N171H(2)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GTTTTGCATCAACAGTGTGGC	0.493000													17	39					0	0	0.006122	0	0
MBTPS1	8720	broad.mit.edu	37	16	84103628	84103628	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:84103628C>G	ENST00000343411.3	-	14	2293	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	600					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.E600Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAGTCTGTTCTGCACCATTT	0.393000													55	114					0	0	0.003610	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812210	140812210	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140812210G>T	ENST00000252085.3	+	1	2026	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.T628T(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.687000													19	135					1.28384e-07	1.59217e-07	0.001882	1	0
TSPAN32	10077	broad.mit.edu	37	11	2337896	2337896	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:2337896C>A	ENST00000182290.4	+	8	855	c.719_splice	c.e8+1	p.R240_splice	TSPAN32_ENST00000381121.3_Splice_Site_p.R240_splice|TSPAN32_ENST00000451520.2_Splice_Site_p.R229_splice	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	240					cell-cell signaling	integral to membrane		p.R240R(2)|p.R240*(1)		breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGACCCCACGGTAGGGCCC	0.657000													15	49					0.000566183	0.000625726	0.004990	1	0
HPS5	11234	broad.mit.edu	37	11	18301447	18301447	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:18301447G>C	ENST00000396253.3	-	22	3492	c.3030C>G	c.(3028-3030)ctC>ctG	p.L1010L	HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000349215.3_Silent_p.L1124L|HPS5_ENST00000438420.2_Silent_p.L1010L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1124						cytosol		p.L1124L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGGGACCAGAGAAACCGAT	0.403000									Hermansky-Pudlak syndrome				14	47					0	0	0.003163	0	0
TSTD2	158427	broad.mit.edu	37	9	100364923	100364923	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:100364923T>C	ENST00000341170.4	-	10	1761	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R	TSTD2_ENST00000375172.2_Intron|TSTD2_ENST00000375173.1_Missense_Mutation_p.Q56R	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	460								p.Q460R(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CCCCTTGTCTTGACATGTGAC	0.537000													6	310					0	0	0.004482	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731096	140731096	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140731096G>A	ENST00000523390.1	+	1	1269	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.K423K(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGACAAGGGCAAACCAG	0.517000													53	41					0	0	0.003610	0	0
CCDC8	83987	broad.mit.edu	37	19	46914764	46914764	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:46914764C>G	ENST00000307522.3	-	1	2077	c.1304G>C	c.(1303-1305)gGc>gCc	p.G435A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	435						plasma membrane		p.G435A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCTCTGGCCAGCCCGGGC	0.597000													37	83					0	0	0.004878	0	0
LOC440700	440700	broad.mit.edu	37	1	165678714	165678714	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:165678714C>G	ENST00000400982.2	+	0	725					NR_036683.1																						ATCAGAAGAGCGTGGTCATCA	0.512000													7	27					0	0	0.003080	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:36677103G>T	ENST00000265113.4	+	6	1153	c.677G>T	c.(676-678)cGa>cTa	p.R226L	SLC1A3_ENST00000381918.3_Missense_Mutation_p.R226L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	226					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R226Q(2)|p.R226L(2)		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)	ACTCTTACCCGAATCACAGAG	0.488000													16	58					3.45872e-05	3.97653e-05	0.004007	1	0
LSP1	4046	broad.mit.edu	37	11	1904695	1904695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:1904695C>A	ENST00000406638.2	+	4	1519	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	LSP1_ENST00000311604.3_Missense_Mutation_p.L135M|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.L263M|LSP1_ENST00000405957.2_Missense_Mutation_p.L73M	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	135					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.L135M(2)|p.L73M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGAAGTCCACCTGGAGGAGTT	0.607000													13	84					7.93312e-07	9.69784e-07	0.002450	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43629263	43629263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:43629263C>G	ENST00000332857.6	-	2	275	c.247_splice	c.e2+1	p.A83_splice		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.A83P(2)									AGAGCCTTACCTCTCAGACTG	0.547000													65	72					0	0	0.003610	0	0
MPPED2	744	broad.mit.edu	37	11	30435814	30435814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30435814C>A	ENST00000448418.2	-	6	1087	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F	MPPED2_ENST00000358117.5_Missense_Mutation_p.V243F|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	243					nervous system development		hydrolase activity|metal ion binding	p.V243F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TTGGGCCGGACTCGCCTCTGA	0.473000													8	53					1.12685e-05	1.30811e-05	0.004482	1	0
ANK1	286	broad.mit.edu	37	8	41551533	41551533	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41551533G>A	ENST00000396942.1	-	29	3498	c.3415C>T	c.(3415-3417)Cgg>Tgg	p.R1139W	ANK1_ENST00000265709.8_Missense_Mutation_p.R1180W|ANK1_ENST00000347528.4_Missense_Mutation_p.R1139W|ANK1_ENST00000379758.2_Missense_Mutation_p.R1139W|ANK1_ENST00000396945.1_Missense_Mutation_p.R1139W|ANK1_ENST00000289734.7_Missense_Mutation_p.R1139W|ANK1_ENST00000352337.4_Missense_Mutation_p.R1139W			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1139					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1180W(2)|p.R1139W(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAACTTCCGGCGCCGGGGC	0.642000													17	66					0	0	0.006122	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604515	160604515	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:160604515G>T	ENST00000302035.6	-	3	937	c.588C>A	c.(586-588)ctC>ctA	p.L196L	SLAMF1_ENST00000538290.1_Silent_p.L196L|SLAMF1_ENST00000235739.5_Silent_p.L196L|SLAMF1_ENST00000355199.3_Silent_p.L196L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	196	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.L196L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCCGAGGGTGAGGGACAGGA	0.602000													118	59					1.39881e-40	2.57811e-40	0.003610	1	0
EEF2K	29904	broad.mit.edu	37	16	22268069	22268069	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:22268069G>T	ENST00000263026.5	+	7	1093	c.618_splice	c.e7-1	p.V207_splice		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	207	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.V207L(4)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATCCCACCAGGTGGACATCAT	0.617000													9	47					3.86212e-05	4.38977e-05	0.008291	1	0
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:122002901C>A	ENST00000498619.1	+	7	2568	c.2130C>A	c.(2128-2130)aaC>aaA	p.N710K	CASR_ENST00000490131.1_Missense_Mutation_p.N700K|CASR_ENST00000296154.5_Missense_Mutation_p.N700K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	700					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAAAACCAACCGTGTCCTCC	0.602000													29	115					1.7881e-09	2.34884e-09	0.008361	1	0
VGLL3	389136	broad.mit.edu	37	3	87017756	87017756	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:87017756G>C	ENST00000398399.2	-	3	1284	c.921C>G	c.(919-921)agC>agG	p.S307R	VGLL3_ENST00000383698.3_Missense_Mutation_p.S307R	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S307R(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGAATCCCACGCTGGGCACTA	0.418000													14	59					0	0	0.003163	0	0
CHD4	1108	broad.mit.edu	37	12	6709107	6709107	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:6709107C>A	ENST00000309577.6	-	10	1477	c.1314G>T	c.(1312-1314)ggG>ggT	p.G438G	CHD4_ENST00000544484.1_Silent_p.G435G|CHD4_ENST00000544040.1_Silent_p.G431G|CHD4_ENST00000357008.2_Silent_p.G438G			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	438					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.G438G(4)		central_nervous_system(2)	2						CGAGGTCTCCCCCAACCTCTT	0.522000													137	379					1.35588e-38	2.49132e-38	0.003610	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54913116	54913116	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:54913116G>T	ENST00000474759.1	+	19	1830	c.1782_splice	c.e19+1	p.G594_splice	CACNA2D3_ENST00000288197.5_Splice_Site_p.G594_splice|CACNA2D3_ENST00000490478.1_Splice_Site_p.G500_splice|CACNA2D3_ENST00000415676.2_Splice_Site_p.G594_splice|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	594						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G594G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGACAAAGGGGTACATTTTT	0.343000													10	31					5.16669e-11	7.08203e-11	0.000978	1	0
TFPI2	7980	broad.mit.edu	37	7	93518469	93518469	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:93518469T>C	ENST00000222543.5	-	3	650	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	113	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.Y113C(2)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTAAAGAAATACTTTTCTGT	0.443000													55	183					0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:1262039G>T	ENST00000348261.5	+	25	4908	c.4660G>T	c.(4660-4662)Gtg>Ttg	p.V1554L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632000													64	205					2.18329e-32	3.84644e-32	0.003610	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897911	72897911	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:72897911G>T	ENST00000308744.6	+	1	391	c.293G>T	c.(292-294)cGg>cTg	p.R98L	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R98L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	98					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.R98L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGGCTCGCCGGGAGAGGTAA	0.622000													19	13					1.22574e-08	1.57896e-08	0.002299	1	0
SPTA1	6708	broad.mit.edu	37	1	158585087	158585087	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:158585087A>T	ENST00000368148.3	-	48	6887	c.6707T>A	c.(6706-6708)aTt>aAt	p.I2236N	SPTA1_ENST00000368147.3_Missense_Mutation_p.I2233N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2236					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I2236N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAATCCAATGGTGCTGTA	0.532000													6	293					0	0	0.001984	0	0
AQP9	366	broad.mit.edu	37	15	58465266	58465266	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:58465266G>T	ENST00000219919.4	+	3	608		c.e3-1		AQP9_ENST00000536493.1_Splice_Site|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Splice_Site	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9						cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCCCTTGCAGGTGGTCACAT	0.463000													95	224					2.01602e-52	3.78557e-52	0.003610	1	0
GRSF1	2926	broad.mit.edu	37	4	71691024	71691024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:71691024C>A	ENST00000254799.6	-	8	1499	c.1382G>T	c.(1381-1383)cGg>cTg	p.R461L	GRSF1_ENST00000439371.1_Missense_Mutation_p.R299L|GRSF1_ENST00000545193.1_Missense_Mutation_p.R343L|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.R299L	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	461	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R461L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AACGTGGGACCGATCCTTGAG	0.443000													24	28					1.42536e-11	1.9718e-11	0.004656	1	0
RXFP3	51289	broad.mit.edu	37	5	33937086	33937086	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:33937086C>A	ENST00000330120.3	+	1	596	c.241C>A	c.(241-243)Cgg>Agg	p.R81R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	81						integral to plasma membrane	N-formyl peptide receptor activity	p.R81R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCCGGGTGCGGATTCTCAT	0.687000													15	63					2.31682e-05	2.6688e-05	0.003163	1	0
CAPN11	11131	broad.mit.edu	37	6	44150906	44150906	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:44150906G>A	ENST00000398776.1	+	21	2106	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D690N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	690	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.D690N(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTATGCAGATGATGACCT	0.522000													33	109					0	0	0.002445	0	0
CMAS	55907	broad.mit.edu	37	12	22208545	22208545	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:22208545G>T	ENST00000229329.2	+	3	689		c.e3+1			NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase						lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	p.?(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGAGGTAATCTCTTT	0.343000													18	34					3.51602e-12	4.9323e-12	0.008871	1	0
ANK3	288	broad.mit.edu	37	10	61833765	61833765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:61833765C>A	ENST00000280772.1	-	37	7065	c.6874G>T	c.(6874-6876)Ggt>Tgt	p.G2292C	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2292					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G2292C(2)|p.G2292S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAACAGACCTGCCAGTTCT	0.493000													44	127					2.56175e-15	3.88477e-15	0.003610	1	0
LRFN3	79414	broad.mit.edu	37	19	36430769	36430769	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:36430769G>T	ENST00000588831.1	+	3	1496	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	LRFN3_ENST00000246529.3_Missense_Mutation_p.A148S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	148					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		p.A148S(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGCTGGCGGCCGGCGCCCT	0.677000													12	30					1.52009e-12	2.15767e-12	0.003163	1	0
LDHA	3939	broad.mit.edu	37	11	18425271	18425271	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:18425271G>C	ENST00000422447.3	+	6	896	c.623G>C	c.(622-624)gGt>gCt	p.G208A	LDHA_ENST00000540430.1_Missense_Mutation_p.G237A|LDHA_ENST00000227157.4_Missense_Mutation_p.G208A|LDHA_ENST00000430553.2_Missense_Mutation_p.G150A|LDHA_ENST00000396222.2_Missense_Mutation_p.G208A|LDHA_ENST00000542179.1_Missense_Mutation_p.G208A|LDHA_ENST00000379412.5_Missense_Mutation_p.G208A	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	208					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	AATGTTGCTGGTGTCTCTCTG	0.378000													3	201					0	0	0.009096	0	0
ZFAND1	79752	broad.mit.edu	37	8	82615028	82615028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:82615028T>A	ENST00000220669.5	-	8	727	c.709A>T	c.(709-711)Aag>Tag	p.K237*	ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.K230*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000521895.1_Nonstop_Mutation_p.*127L|ZFAND1_ENST00000519338.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	237							zinc ion binding	p.K237*(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAATCCTCCTTAGCAATCCAG	0.353000													41	108					0	0	0.003214	0	0
COL26A1	136227	broad.mit.edu	37	7	101183242	101183242	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:101183242T>G	ENST00000313669.7	+	0	708				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.T172T(2)									CCGAGAGCACTCCGCCGACCT	0.657000													33	25					0	0	0.004878	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629414	156629414	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:156629414A>G	ENST00000296518.7	+	5	553	c.344A>G	c.(343-345)gAa>gGa	p.E115G	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E115G|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E115G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	115					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.E115G(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGACTTTGAAAAAACAATT	0.279000													16	40					0	0	0.004990	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:170216488C>A	ENST00000231706.4	-	4	1042	c.727G>T	c.(727-729)Gag>Tag	p.E243*	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	243						integral to membrane	amino acid transmembrane transporter activity	p.E243*(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517000													24	65					1.17739e-12	1.6752e-12	0.005443	1	0
MAT1A	4143	broad.mit.edu	37	10	82036276	82036276	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:82036276C>A	ENST00000372213.3	-	6	884	c.624G>T	c.(622-624)caG>caT	p.Q208H		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	208					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.Q208H(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTCGTTGTGCTGCACAGAGA	0.582000													43	173					9.84934e-19	1.59023e-18	0.002522	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18491482	18491482	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:18491482G>T	ENST00000433979.1	+	9	1511	c.1395_splice	c.e9+1	p.E465_splice	PIK3C2G_ENST00000266497.5_Splice_Site_p.E465_splice|PIK3C2G_ENST00000535651.1_Splice_Site_p.E465_splice|PIK3C2G_ENST00000538779.1_Splice_Site_p.E465_splice	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	465					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E465D(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAAAGGAGAGGTAAGTACAT	0.313000													16	44					1.56452e-12	2.21548e-12	0.007413	1	0
UGT2B15	7366	broad.mit.edu	37	4	69535962	69535962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:69535962G>T	ENST00000338206.5	-	1	384	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	125					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.N125K(2)									TACAGAGCTTGTTACTGTAGT	0.328000													21	94					2.37509e-13	3.44475e-13	0.010504	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22863618	22863618	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:22863618G>T	ENST00000251822.6	+	4	979	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.D170Y|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.D155Y|RHOBTB2_ENST00000523918.1_3'UTR	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.D148Y(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCGCTACGCTGACCTGGAGGC	0.597000													101	372					2.14978e-47	4.01159e-47	0.003610	1	0
ALK	238	broad.mit.edu	37	2	29551229	29551229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:29551229C>A	ENST00000389048.3	-	6	2307	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	467	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E467D(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACATCTGGCTCTCATCTTCTC	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				27	71					6.38683e-12	8.93858e-12	0.008361	1	0
STAT1	6772	broad.mit.edu	37	2	191841713	191841713	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:191841713C>T	ENST00000361099.3	-	22	2299	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	STAT1_ENST00000392322.3_Missense_Mutation_p.E638K|STAT1_ENST00000392323.2_Missense_Mutation_p.E640K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.E638K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	638	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E638K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCAGAAAGTTCTTTCTTCGTG	0.398000													15	129					0	0	0.004007	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631831	122631831	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:122631831A>G	ENST00000195173.4	-	18	2884	c.2581T>C	c.(2581-2583)Tgg>Cgg	p.W861R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.W916R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.W862R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	862	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.W916R(2)|p.W862R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGACGACCACGGGCCCCAG	0.746000													8	25					0	0	0.004482	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212536	35212536	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:35212536A>G	ENST00000274938.7	+	18	2349	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P	SCUBE3_ENST00000394681.1_Silent_p.P799P	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	783					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	p.P783P(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCCGCTGTCCAGGAAACACAA	0.577000													48	175					0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111130348	111130348	+	Splice_Site	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:111130348A>G	ENST00000360467.5	+	30	2731		c.e30-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.?(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGATTCCTGCAGGAAGCCAAG	0.582000													13	64					0	0	0.001855	0	0
LONP2	83752	broad.mit.edu	37	16	48303941	48303941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:48303941A>T	ENST00000285737.4	+	7	1090	c.997A>T	c.(997-999)Agg>Tgg	p.R333W	LONP2_ENST00000535754.1_Missense_Mutation_p.R289W	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	333					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.R333W(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGACATTAGGGCAGCCCG	0.383000													22	97					0	0	0.004656	0	0
PTPRR	5801	broad.mit.edu	37	12	71054802	71054802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:71054802G>T	ENST00000283228.2	-	12	2136	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	PTPRR_ENST00000378778.1_Missense_Mutation_p.Q356K|PTPRR_ENST00000342084.4_Missense_Mutation_p.Q450K|PTPRR_ENST00000440835.2_Missense_Mutation_p.Q317K|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000549308.1_Missense_Mutation_p.Q317K	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	562	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q562K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGAGGGGCTGGGCACTGTCT	0.532000													8	21					1.12685e-05	1.30811e-05	0.004482	1	0
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144998070C>A	ENST00000322810.4	-	31	6607	c.6438G>T	c.(6436-6438)gaG>gaT	p.E2146D	PLEC_ENST00000356346.3_Missense_Mutation_p.E1995D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2009D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2036D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1987D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2013D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2009D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2032D|PLEC_ENST00000398774.2_Missense_Mutation_p.E1977D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2146	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2009D(2)|p.E2036D(2)|p.E2146D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGACTTCCTCCAGCGCCG	0.756000													3	10					0.00307968	0.0033119	0.003080	1	0
TRIO	7204	broad.mit.edu	37	5	14461326	14461326	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:14461326A>G	ENST00000344204.4	+	35	5426	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.K1801R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1801					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.K1801R(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAAGCACAAGAAGAGCCGC	0.706000													3	6					0	0	0.009096	0	0
OR5M8	219484	broad.mit.edu	37	11	56258462	56258462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56258462G>T	ENST00000327216.2	-	1	409	c.385C>A	c.(385-387)Ctg>Atg	p.L129M		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L129M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCATAAAGCAGAGGGTTGCAG	0.517000													18	51					1.85244e-09	2.42804e-09	0.003330	1	0
TPBG	7162	broad.mit.edu	37	6	83074867	83074867	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:83074867C>T	ENST00000369750.3	+	2	806	c.189C>T	c.(187-189)ccC>ccT	p.P63P	TPBG_ENST00000543496.1_Silent_p.P63P|TPBG_ENST00000535040.1_Silent_p.P63P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	63	LRRNT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		ACCAGTGCCCCGCGCTGTGCG	0.692000													3	10					0	0	0.004672	0	0
CD163	9332	broad.mit.edu	37	12	7647772	7647772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:7647772C>A	ENST00000359156.4	-	6	1527	c.1325G>T	c.(1324-1326)tGt>tTt	p.C442F	CD163_ENST00000541972.1_Missense_Mutation_p.C430F|CD163_ENST00000396620.3_Missense_Mutation_p.C442F|CD163_ENST00000432237.2_Missense_Mutation_p.C442F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	442	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.C442F(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCGTTACAGCTACTTAG	0.448000													68	170					2.18329e-32	3.84644e-32	0.003610	1	0
TMC2	117532	broad.mit.edu	37	20	2597907	2597907	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:2597907G>A	ENST00000358864.1	+	16	2145	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	710						integral to membrane		p.V710V(2)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTGCCGGTGGCCTACACCA	0.622000													15	44					0	0	0.003330	0	0
FCHO2	115548	broad.mit.edu	37	5	72383455	72383455	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:72383455G>A	ENST00000430046.2	+	25	2401	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	FCHO2_ENST00000341845.6_Missense_Mutation_p.G762E|FCHO2_ENST00000512348.1_Missense_Mutation_p.G729E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	762								p.G762E(4)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CTTTCAGAAGGACCTAGTAAA	0.423000													16	57					0	0	0.003163	0	0
LRFN5	145581	broad.mit.edu	37	14	42356354	42356354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:42356354C>A	ENST00000554171.1	+	5	2958	c.526C>A	c.(526-528)Ctt>Att	p.L176I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L176I|LRFN5_ENST00000298119.4_Missense_Mutation_p.L176I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	176						integral to membrane		p.L176I(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTGCATACCCTTAGTTTGGA	0.408000										HNSCC(30;0.082)			8	39					0.00307968	0.0033119	0.003080	1	0
FPR2	2358	broad.mit.edu	37	19	52272906	52272906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:52272906C>A	ENST00000598776.1	+	2	1767	c.995C>A	c.(994-996)aCt>aAt	p.T332N	FPR2_ENST00000340023.6_Missense_Mutation_p.T332N|FPR2_ENST00000598953.1_Missense_Mutation_p.T332N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	332					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T332N(2)|p.T332I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAGCCCCAACTAATGACACG	0.537000													16	40					1.01871e-10	1.38684e-10	0.008871	1	0
TRPS1	7227	broad.mit.edu	37	8	116631413	116631413	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:116631413C>A	ENST00000395715.3	-	3	1489	c.912G>T	c.(910-912)ctG>ctT	p.L304L	TRPS1_ENST00000220888.5_Silent_p.L291L|TRPS1_ENST00000519674.1_Silent_p.L291L|TRPS1_ENST00000520276.1_Silent_p.L295L|TRPS1_ENST00000519076.1_Silent_p.L245L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	291					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L304L(2)|p.L291L(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGATGTCCTGCAGCACACCAG	0.418000									Langer-Giedion syndrome				19	48					3.51602e-12	4.9323e-12	0.008871	1	0
GRM1	2911	broad.mit.edu	37	6	146720744	146720744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:146720744C>A	ENST00000392299.2	+	8	3039	c.2569C>A	c.(2569-2571)Cgc>Agc	p.R857S	GRM1_ENST00000492807.2_Missense_Mutation_p.R857S|GRM1_ENST00000507907.1_Missense_Mutation_p.R857S|GRM1_ENST00000355289.4_Missense_Mutation_p.R857S|GRM1_ENST00000282753.1_Missense_Mutation_p.R857S|GRM1_ENST00000361719.2_Missense_Mutation_p.R857S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	857					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R857S(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGATGTTGTCCGCATGCATGT	0.527000													12	42					7.03913e-09	9.08715e-09	0.001368	1	0
L1CAM	3897	broad.mit.edu	37	X	153130579	153130579	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:153130579C>A	ENST00000370060.1	-	22	3025	c.2836G>T	c.(2836-2838)Ggc>Tgc	p.G946C	L1CAM_ENST00000361699.4_Missense_Mutation_p.G946C|L1CAM_ENST00000538883.1_Missense_Mutation_p.G948C|L1CAM_ENST00000543994.1_Missense_Mutation_p.G948C|L1CAM_ENST00000361981.3_Missense_Mutation_p.G941C|L1CAM_ENST00000370057.3_Missense_Mutation_p.G946C|L1CAM_ENST00000370055.1_Missense_Mutation_p.G941C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	946	Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGCACGCCGTTGTGGCTG	0.711000													10	18					1.15088e-07	1.43321e-07	0.004007	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111591	142111591	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142111591T>G	ENST00000390378.1	-	0	144																											GACACACTGGTGTGCCCAGAG	0.532000													84	65					0	0	0.003610	0	0
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:44587938G>A	ENST00000322927.2	-	15	2255	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R564C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R719C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657000													31	80					0	0	0.003755	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303881	151303881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:151303881G>T	ENST00000370323.4	-	4	528	c.212C>A	c.(211-213)cCa>cAa	p.P71Q	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P71Q	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	71								p.P71Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCTCCTCTGGGGTGCTTGG	0.532000													112	163					2.68928e-46	5.00272e-46	0.003610	1	0
CLCA4	22802	broad.mit.edu	37	1	87012868	87012868	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:87012868C>A	ENST00000370563.3	+	1	108	c.66C>A	c.(64-66)tcC>tcA	p.S22S		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	22						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.S22S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATACTTCCTTCATTAAGC	0.363000													29	74					1.75199e-13	2.54718e-13	0.007291	1	0
TMEM66	51669	broad.mit.edu	37	8	29924385	29924385	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:29924385A>G	ENST00000256255.6	-	4	1007	c.750T>C	c.(748-750)ttT>ttC	p.F250F	TMEM66_ENST00000545648.1_Silent_p.F78F|TMEM66_ENST00000536273.1_Silent_p.F78F	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	250						integral to membrane		p.F250F(2)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GTTGTCCTGTAAAAGCACTGC	0.398000													63	153					0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:164733862G>C	ENST00000264382.3	-	32	3828	c.3766C>G	c.(3766-3768)Cag>Gag	p.Q1256E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGTACTGAACATCCTGA	0.333000										HNSCC(35;0.089)			4	72					0	0	0.009096	0	0
FREM1	158326	broad.mit.edu	37	9	14812842	14812842	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:14812842A>T	ENST00000380881.4	-	17	3679	c.2864T>A	c.(2863-2865)gTt>gAt	p.V955D	FREM1_ENST00000380880.3_Missense_Mutation_p.V954D|FREM1_ENST00000422223.2_Missense_Mutation_p.V954D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	954					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V955D(2)		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)		CTCTGAGATAACATCTCTCTG	0.507000													78	206					0	0	0.003610	0	0
CSAD	51380	broad.mit.edu	37	12	53555112	53555112	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:53555112G>T	ENST00000267085.4	-	11	1078	c.845C>A	c.(844-846)cCc>cAc	p.P282H	CSAD_ENST00000453446.2_Missense_Mutation_p.P255H|CSAD_ENST00000444623.1_Missense_Mutation_p.P255H|CSAD_ENST00000379843.3_Missense_Mutation_p.P108H|CSAD_ENST00000379846.1_Missense_Mutation_p.P108H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	255					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGCCTCCAGGGGGTCAAAGGC	0.587000													5	202					0.00198382	0.00214884	0.001984	1	0
CDKL1	8814	broad.mit.edu	37	14	50801307	50801307	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:50801307A>G	ENST00000216378.2	-	8	1418	c.774T>C	c.(772-774)tcT>tcC	p.S258S	ATP5S_ENST00000358473.1_Intron|CDKL1_ENST00000395834.1_Silent_p.S258S			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	257	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.S258S(4)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGGCAGGATAAGAGATGTTTG	0.378000													83	239					0	0	0.003610	0	0
THUMPD1	55623	broad.mit.edu	37	16	20748250	20748250	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:20748250T>A	ENST00000381337.2	-	4	1358	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	THUMPD1_ENST00000396083.2_Silent_p.A338A|THUMPD1_ENST00000431224.2_Silent_p.A424A	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	338								p.A338A(2)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGGCTTGACTTGCAAGTTCAG	0.478000													24	57					0	0	0.007291	0	0
LRP1B	53353	broad.mit.edu	37	2	141665515	141665515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:141665515G>T	ENST00000389484.3	-	22	4422	c.3451C>A	c.(3451-3453)Ctg>Atg	p.L1151M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1151	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1151M(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGGCTGCAGGCAGACTGAG	0.453000										TSP Lung(27;0.18)			25	66					1.66031e-10	2.23488e-10	0.003954	1	0
LRRTM3	347731	broad.mit.edu	37	10	68857483	68857483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:68857483G>T	ENST00000361320.4	+	3	2253	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	559						integral to membrane		p.E559*(4)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACACACCTAGAGACTGAGCT	0.483000													13	33					2.27111e-07	2.80494e-07	0.001368	1	0
VCAN	1462	broad.mit.edu	37	5	82785999	82785999	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:82785999T>A	ENST00000265077.3	+	3	718	c.153T>A	c.(151-153)acT>acA	p.T51T	VCAN_ENST00000512590.2_Silent_p.T3T|VCAN_ENST00000513984.1_Silent_p.T51T|VCAN_ENST00000343200.5_Silent_p.T51T|VCAN_ENST00000502527.2_Silent_p.T51T|VCAN_ENST00000342785.4_Silent_p.T51T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	51	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.T51T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGATGCCTACTTTGCCACCCA	0.438000													9	191					0	0	0.006214	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558219	140558219	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140558219G>T	ENST00000239444.2	+	1	849	c.604G>T	c.(604-606)Gac>Tac	p.D202Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D202Y(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGCGCTGGACCGAGAGGA	0.532000													51	245					1.82294e-38	3.33927e-38	0.003610	1	0
TLN1	7094	broad.mit.edu	37	9	35718871	35718871	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:35718871C>A	ENST00000314888.9	-	17	2286	c.1933G>T	c.(1933-1935)Ggc>Tgc	p.G645C	TLN1_ENST00000540444.1_Missense_Mutation_p.G645C	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	645					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.G645C(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGCCTGGCCCACGTTCCCA	0.572000													10	25					1.58986e-06	1.92002e-06	0.008291	1	0
OR6A2	8590	broad.mit.edu	37	11	6816036	6816036	+	Missense_Mutation	SNP	C	C	A	rs146813493	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:6816036C>A	ENST00000332601.3	-	1	1092	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V302F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTCTCTTGACCTCTTGATTG	0.473000													27	93					8.24728e-16	1.2667e-15	0.004656	1	0
FRMD7	90167	broad.mit.edu	37	X	131228118	131228118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:131228118G>T	ENST00000298542.4	-	5	509	c.334C>A	c.(334-336)Cca>Aca	p.P112T	FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Missense_Mutation_p.P97T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	112	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.P112T(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCATGGAAGCCTTCCT	0.403000													74	113					1.43161e-34	2.58294e-34	0.003610	1	0
ZFP41	286128	broad.mit.edu	37	8	144332252	144332252	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144332252C>T	ENST00000330701.4	+	2	608	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ZFP41_ENST00000522452.1_Missense_Mutation_p.P80L|ZFP41_ENST00000520584.1_Missense_Mutation_p.P80L	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	80					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P80L(2)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GTGTTCATTCCTTTTCAGAGG	0.512000													48	113					0	0	0.003610	0	0
C14orf93	60686	broad.mit.edu	37	14	23468206	23468206	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:23468206G>A	ENST00000299088.6	-	2	456	c.27C>T	c.(25-27)ttC>ttT	p.F9F	C14orf93_ENST00000406429.2_Silent_p.F9F|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Silent_p.F9F|C14orf93_ENST00000397382.4_Silent_p.F9F|C14orf93_ENST00000341470.4_Silent_p.F9F|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	9						extracellular region		p.F9F(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGGGAGGGGAGAAGAGAATGG	0.587000													29	109					0	0	0.002445	0	0
TENM3	55714	broad.mit.edu	37	4	183664485	183664485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:183664485G>T	ENST00000511685.1	+	19	3665	c.3542G>T	c.(3541-3543)gGg>gTg	p.G1181V	TENM3_ENST00000406950.2_Missense_Mutation_p.G1181V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.G1181V(2)									CTAGCTTGTGGGATCGATGGC	0.507000													13	35					1.5842e-08	2.03198e-08	0.001855	1	0
SUSD1	64420	broad.mit.edu	37	9	114820914	114820914	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:114820914C>T	ENST00000374270.3	-	14	2075	c.1903G>A	c.(1903-1905)Gat>Aat	p.D635N	SUSD1_ENST00000374264.2_Missense_Mutation_p.D635N|SUSD1_ENST00000374263.3_Missense_Mutation_p.D635N	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	635						integral to membrane	calcium ion binding	p.D635N(2)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTCAGAATCACAAGAAAAT	0.488000													19	121					0	0	0.007413	0	0
FOXI1	2299	broad.mit.edu	37	5	169533120	169533120	+	Silent	SNP	C	C	G	rs146116253		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169533120C>G	ENST00000449804.2	+	1	204	c.159C>G	c.(157-159)ggC>ggG	p.G53G	FOXI1_ENST00000306268.6_Silent_p.G53G	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	53	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.G53G(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGGGGCGGCGAGTATGGGG	0.692000									Pendred syndrome				8	29					0	0	0.006214	0	0
CA10	56934	broad.mit.edu	37	17	49710885	49710885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:49710885G>T	ENST00000451037.2	-	8	1856	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	CA10_ENST00000285273.4_Missense_Mutation_p.Q306K|CA10_ENST00000340813.6_Missense_Mutation_p.Q312K|CA10_ENST00000442502.2_Missense_Mutation_p.Q306K|CA10_ENST00000570565.1_Missense_Mutation_p.Q231K	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	306					brain development			p.Q306K(2)		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)			TCCTTCCCCTGTAAACTGAAG	0.512000													28	76					1.08312e-15	1.65086e-15	0.009535	1	0
MSMO1	6307	broad.mit.edu	37	4	166258949	166258949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:166258949A>T	ENST00000261507.6	+	3	437	c.264A>T	c.(262-264)ccA>ccT	p.P88P	MSMO1_ENST00000393766.2_5'UTR|MSMO1_ENST00000504317.1_Silent_p.P88P	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	88					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.P88P(2)								NADH(DB00157)	AGGATAAGCCAGAGACATGGG	0.343000													6	47					0	0	0.001984	0	0
FAT1	2195	broad.mit.edu	37	4	187538952	187538952	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:187538952C>A	ENST00000441802.2	-	10	8997	c.8788G>T	c.(8788-8790)Gat>Tat	p.D2930Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2930	Cadherin 27.				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	p.D2933Y(2)|p.D2930Y(2)		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						TGGGGGTCATCCTCACTCACA	0.463000										HNSCC(5;0.00058)			35	106					6.4771e-29	1.13113e-28	0.002522	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734888	176734888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176734888G>T	ENST00000367662.3	+	15	5402	c.4238G>T	c.(4237-4239)gGc>gTc	p.G1413V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1413	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G1413V(2)		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						ACCTCTATAGGCCCAGGTCTC	0.522000													83	267					1.20873e-29	2.11705e-29	0.003610	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918110	51918110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51918110C>A	ENST00000356298.5	-	8	1699	c.1583G>T	c.(1582-1584)gGg>gTg	p.G528V	SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G470V|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G528V|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	528					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.G528V(2)|p.G470V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACTCTGGGCCCCATGGACGTT	0.662000													47	174					1.86633e-21	3.05446e-21	0.003610	1	0
UBE2O	63893	broad.mit.edu	37	17	74395027	74395027	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:74395027C>T	ENST00000319380.7	-	10	1738	c.1674G>A	c.(1672-1674)atG>atA	p.M558I	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	558							ATP binding|ubiquitin-protein ligase activity	p.M558I(4)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CATCCTGCCACATCACGTCGG	0.622000													11	57					0	0	0.002445	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502030	140502030	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140502030A>G	ENST00000194152.1	+	1	450	c.450A>G	c.(448-450)ctA>ctG	p.L150L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		150	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.L150L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGTACTCTATTTCCGTTGC	0.403000													6	145					0	0	0.001168	0	0
KCNA1	3736	broad.mit.edu	37	12	5021590	5021590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:5021590C>A	ENST00000382545.3	+	2	2153	c.1046C>A	c.(1045-1047)gCg>gAg	p.A349E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	349					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.A349E(2)|p.A349V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTGCCGAGGCGGAAGAAGCT	0.532000													80	238					6.00396e-56	1.13809e-55	0.003610	1	0
SLC14A2	8170	broad.mit.edu	37	18	43217060	43217060	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:43217060C>T	ENST00000255226.6	+	6	1572	c.756C>T	c.(754-756)ggC>ggT	p.G252G	SLC14A2_ENST00000586448.1_Silent_p.G252G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	252						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G252G(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCACAGGCCACTACAACC	0.512000													81	111					0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131116	55131116	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:55131116C>G	ENST00000257290.5	+	5	990	c.659C>G	c.(658-660)gCt>gGt	p.A220G	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	220	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A220G(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAATGGAAGCTCTTAAAACC	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			88	122					0	0	0.003610	0	0
HMP19	51617	broad.mit.edu	37	5	173534364	173534364	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:173534364G>T	ENST00000303177.3	+	5	634	c.372G>T	c.(370-372)caG>caT	p.Q124H	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1												p.Q124H(2)									ACTCCTCCCAGGACCCCAATT	0.592000													29	104					5.45727e-16	8.42501e-16	0.008361	1	0
PLA2G5	5322	broad.mit.edu	37	1	20416375	20416375	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:20416375C>A	ENST00000375108.3	+	4	547	c.279C>A	c.(277-279)ggC>ggA	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582000													5	40					0.000602214	0.000659463	0.000602	1	0
GID8	54994	broad.mit.edu	37	20	61576189	61576189	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:61576189C>T	ENST00000266069.3	+	5	759	c.612C>T	c.(610-612)aaC>aaT	p.N204N		NM_017896.2	NP_060366.1			GID complex subunit 8									p.N204N(2)									GGGCTCAGAACGAGCTGGACC	0.473000													34	81					0	0	0.002445	0	0
NOS1	4842	broad.mit.edu	37	12	117715825	117715825	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:117715825C>T	ENST00000317775.6	-	9	2288	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.D535N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	535					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D535N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTCAGGGTCATTGCCGTTG	0.602000													5	94					0	0	0.001984	0	0
SMCHD1	23347	broad.mit.edu	37	18	2698038	2698038	+	Splice_Site	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:2698038A>T	ENST00000320876.6	+	10	1679	c.1342_splice	c.e10+1	p.S447_splice	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site_p.S447_splice	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	447					chromosome organization		ATP binding	p.S447S(4)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCTTTCCATCAAGTATGTTAA	0.333000													3	8					0	0	0.004672	0	0
ITGBL1	9358	broad.mit.edu	37	13	102367988	102367988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:102367988G>C	ENST00000376180.3	+	11	1688	c.1469G>C	c.(1468-1470)gGc>gCc	p.G490A	ITGBL1_ENST00000376162.3_Missense_Mutation_p.G397A|ITGBL1_ENST00000545560.2_Missense_Mutation_p.G349A	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	490	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.G490A(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTGGCTTGGCTCAGAATAT	0.383000													49	141					0	0	0.003610	0	0
PSD2	84249	broad.mit.edu	37	5	139193210	139193210	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:139193210C>T	ENST00000274710.3	+	3	893	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	230					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R230C(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCAGCCGCTCTGAGAA	0.632000													16	11					0	0	0.001882	0	0
SLIT3	6586	broad.mit.edu	37	5	168093656	168093656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:168093656G>T	ENST00000519560.1	-	36	4794	c.4375C>A	c.(4375-4377)Cgc>Agc	p.R1459S	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1459	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R1459S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGCGGCGGATCACCTCT	0.607000													14	101					6.31663e-08	7.94886e-08	0.003163	1	0
CYP4F11	57834	broad.mit.edu	37	19	16025585	16025585	+	Silent	SNP	G	G	T	rs140718122		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:16025585G>T	ENST00000326742.7	-	9	1237	c.1236C>A	c.(1234-1236)cgC>cgA	p.R412R	CYP4F11_ENST00000402119.3_Silent_p.R412R|CYP4F11_ENST00000248041.7_Silent_p.R412R			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	412					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R412R(2)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGGGGATGACGCGGCCGTCTG	0.632000													33	94					2.42023e-17	3.80504e-17	0.003271	1	0
ACTN2	88	broad.mit.edu	37	1	236902645	236902645	+	Missense_Mutation	SNP	G	G	T	rs112882610		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:236902645G>T	ENST00000366578.4	+	10	1086	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R307L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	307					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R307L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTGGAGAACCGGACTCCCGAG	0.567000													98	94					2.608e-42	4.82158e-42	0.003610	1	0
KIF17	57576	broad.mit.edu	37	1	21044096	21044096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:21044096G>C	ENST00000247986.2	-	1	414	c.104C>G	c.(103-105)gCc>gGc	p.A35G	KIF17_ENST00000400463.3_Missense_Mutation_p.A35G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	35	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A35G(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCAGCACTGGGCGCGCGCGCA	0.692000													18	39					0	0	0.007413	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													4	31					0	0	0.009096	0	0
VCAM1	7412	broad.mit.edu	37	1	101190255	101190255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:101190255G>T	ENST00000294728.2	+	4	838	c.737G>T	c.(736-738)tGt>tTt	p.C246F	VCAM1_ENST00000370115.1_Missense_Mutation_p.C246F|VCAM1_ENST00000347652.2_Missense_Mutation_p.C246F|VCAM1_ENST00000370119.4_Missense_Mutation_p.C184F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	246	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.C246F(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCATGACCTGTTCCAGCGAG	0.413000													11	35					3.86212e-05	4.38977e-05	0.008291	1	0
SYT1	6857	broad.mit.edu	37	12	79679716	79679716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:79679716G>T	ENST00000261205.4	+	5	973	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	SYT1_ENST00000393240.3_Missense_Mutation_p.D106Y|SYT1_ENST00000457153.2_Missense_Mutation_p.D106Y|SYT1_ENST00000552744.1_Missense_Mutation_p.D106Y	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	106					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.D106Y(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAACATGAAAGATGTAAAAGA	0.303000													15	24					8.60227e-14	1.26293e-13	0.004007	1	0
RP1L1	94137	broad.mit.edu	37	8	10468146	10468146	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:10468146C>A	ENST00000382483.3	-	4	3685	c.3462G>T	c.(3460-3462)tcG>tcT	p.S1154S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1154					intracellular signal transduction			p.S1154S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGTCCTTCGAGATGCTGA	0.587000													22	76					9.57634e-11	1.30666e-10	0.003330	1	0
HGFAC	3083	broad.mit.edu	37	4	3444869	3444869	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:3444869A>G	ENST00000382774.3	+	3	506	c.391A>G	c.(391-393)Aag>Gag	p.K131E	HGFAC_ENST00000511533.1_Missense_Mutation_p.K131E	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	131	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.K131E(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCACACAGGAAGTGGTGGGT	0.697000													6	20					0	0	0.001168	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374339	95374339	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:95374339C>A	ENST00000494840.1	-	0	1522					NR_077228.1																						ATGGGGTAGCCGGTAACATGG	0.433000													32	104					1.26612e-14	1.89601e-14	0.003271	1	0
SLFN11	91607	broad.mit.edu	37	17	33687261	33687261	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:33687261C>A	ENST00000394566.1	-	5	1471		c.e5+1		SLFN11_ENST00000308377.4_Splice_Site	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11							nucleus	ATP binding	p.?(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCATAATTACCTGAAAATAA	0.393000													10	52					4.68919e-08	5.93832e-08	0.008291	1	0
TEX261	113419	broad.mit.edu	37	2	71216145	71216145	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:71216145G>A	ENST00000606025.1	-	5	953	c.375C>T	c.(373-375)gtC>gtT	p.V125V	TEX261_ENST00000466731.1_5'UTR|TEX261_ENST00000272438.4_Silent_p.V125V														p.V125V(1)									AATAGGCCAGGACCTGGCAAC	0.577000													5	32					0	0	0.000602	0	0
LONP2	83752	broad.mit.edu	37	16	48303939	48303939	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:48303939T>A	ENST00000285737.4	+	7	1088	c.995T>A	c.(994-996)aTt>aAt	p.I332N	LONP2_ENST00000535754.1_Missense_Mutation_p.I288N	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	332					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.I332N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGCCTGGACATTAGGGCAGCC	0.378000													20	97					0	0	0.004656	0	0
INSC	387755	broad.mit.edu	37	11	15260554	15260554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:15260554G>T	ENST00000379554.3	+	11	1514	c.1468G>T	c.(1468-1470)Gct>Tct	p.A490S	INSC_ENST00000528567.1_Missense_Mutation_p.A443S|INSC_ENST00000424273.1_Missense_Mutation_p.A401S|INSC_ENST00000379556.3_Missense_Mutation_p.A443S|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.A401S|INSC_ENST00000530161.1_Missense_Mutation_p.A443S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	490					cell differentiation|nervous system development	cytoplasm	binding	p.A490S(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCAGCAGAAAGCTGCAGTGAC	0.602000													15	45					8.28177e-16	1.26874e-15	0.007413	1	0
FAM83H	286077	broad.mit.edu	37	8	144808840	144808840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144808840G>T	ENST00000388913.3	-	5	2916	c.2791C>A	c.(2791-2793)Ccg>Acg	p.P931T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	931					biomineral tissue development			p.P931T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCGCTCCGGCACGGGGGGC	0.736000													7	6					8.12818e-05	9.13468e-05	0.001984	1	0
UBE4B	10277	broad.mit.edu	37	1	10238755	10238755	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:10238755A>T	ENST00000377157.3	+	25	3905	c.2844A>T	c.(2842-2844)gcA>gcT	p.A948A	UBE4B_ENST00000343090.6_Silent_p.A1193A|UBE4B_ENST00000253251.8_Silent_p.A1064A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1193					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.A1064A(2)|p.A1193A(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCGGAAGGCAGGGATCAAAT	0.453000													17	53					0	0	0.004007	0	0
RGS22	26166	broad.mit.edu	37	8	101075826	101075826	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:101075826C>G	ENST00000360863.6	-	8	1364	c.1170G>C	c.(1168-1170)gaG>gaC	p.E390D	RGS22_ENST00000523437.1_Missense_Mutation_p.E378D|RGS22_ENST00000523287.1_Missense_Mutation_p.E209D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	390					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E390D(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCCAGCGCTCTCATTCTTTG	0.358000													6	81					0	0	0.001168	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962881	94962881	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:94962881C>T	ENST00000341228.2	-	4	1529	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SERPINA12_ENST00000556881.1_Missense_Mutation_p.G245D	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	245					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTGGTATATGCCACTACGGAA	0.438000													5	221					0	0	0.000602	0	0
ADAD1	132612	broad.mit.edu	37	4	123336740	123336740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:123336740G>T	ENST00000296513.2	+	11	1641	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L	ADAD1_ENST00000388724.2_Missense_Mutation_p.V475L|ADAD1_ENST00000388725.2_Missense_Mutation_p.V468L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	486	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.V486L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGGAGATTGTGGATGGCCT	0.333000													27	73					8.24728e-16	1.2667e-15	0.004656	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008600	142008600	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142008600C>A	ENST00000390387.3	+	0	120																											AGCTGTTTCCCAGACTCCAAA	0.453000													38	23					1.96642e-18	3.16636e-18	0.006999	1	0
AHSG	197	broad.mit.edu	37	3	186335058	186335058	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:186335058G>C	ENST00000411641.2	+	4	711	c.492G>C	c.(490-492)gcG>gcC	p.A164A	AHSG_ENST00000273784.5_Silent_p.A165A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	164	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.A164A(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCACGCCGCGAAAGCTGCCC	0.592000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	119					0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32023635	32023635	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:32023635A>G	ENST00000375244.3	-	24	8661	c.8460T>C	c.(8458-8460)ggT>ggC	p.G2820G	TNXB_ENST00000375247.2_Silent_p.G2820G			P22105	TENX_HUMAN	tenascin XB	2878	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2820G(1)|p.G2907G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCTGTCACACCCACGGTGG	0.582000													4	91					0	0	0.001168	0	0
CLTC	1213	broad.mit.edu	37	17	57743971	57743971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:57743971G>T	ENST00000269122.3	+	12	2187	c.1913G>T	c.(1912-1914)cGt>cTt	p.R638L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.R638L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	638	Heavy chain arm.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.R638L(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATATAAAACGTGCAGTGGTT	0.388000			T	"""ALK, TFE3"""	"""ALCL, renal """								3	47					6.4e-05	7.24688e-05	0.004672	1	0
IVL	3713	broad.mit.edu	37	1	152882785	152882785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152882785G>T	ENST00000368764.3	+	2	576	c.512G>T	c.(511-513)gGa>gTa	p.G171V	IVL_ENST00000392667.2_Missense_Mutation_p.G25V			P07476	INVO_HUMAN	involucrin	171	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.G171V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagcaggagggacagctgaag	0.622000													20	19					8.00594e-06	9.40305e-06	0.007413	1	0
TENM3	55714	broad.mit.edu	37	4	183651436	183651436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:183651436C>A	ENST00000511685.1	+	15	2792	c.2669C>A	c.(2668-2670)cCa>cAa	p.P890Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P890Q|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.P890Q(2)									TTCCATTACCCAGAATATGGA	0.418000													10	62					3.86212e-05	4.38977e-05	0.008291	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709330	176709330	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176709330G>T	ENST00000367662.3	+	14	5313	c.4149G>T	c.(4147-4149)caG>caT	p.Q1383H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1383					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.Q1383H(2)		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						ATCAGGGACAGAGGTACAAAC	0.458000													17	46					1.02788e-11	1.42854e-11	0.004990	1	0
ABCC5	10057	broad.mit.edu	37	3	183667663	183667663	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:183667663C>A	ENST00000334444.6	-	22	3345	c.3105G>T	c.(3103-3105)ctG>ctT	p.L1035L	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1035	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L1035L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTCCCGAATCAGGACCCTGG	0.557000													24	72					2.24059e-21	3.65699e-21	0.006320	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317504	30317504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:30317504G>A	ENST00000375377.1	-	3	1674	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	525								p.Q525*(2)		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						TCAGGCCACTGTCCCCTTGCC	0.632000													81	186					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100685898	100685898	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:100685898C>G	ENST00000306151.4	+	3	11265	c.11201C>G	c.(11200-11202)tCt>tGt	p.S3734C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3734	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)					GCCATTTCATCTTCTGCAACT	0.507000													4	321					0	0	0.009096	0	0
AOX1	316	broad.mit.edu	37	2	201533401	201533401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:201533401C>A	ENST00000374700.2	+	33	3914	c.3673C>A	c.(3673-3675)Cag>Aag	p.Q1225K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1225					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.Q1225K(2)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTATTCTCCCCAGGGCATTCT	0.433000													67	127					5.05157e-50	9.45591e-50	0.003610	1	0
KCNH2	3757	broad.mit.edu	37	7	150645550	150645550	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:150645550G>C	ENST00000392968.2	-	9	3506	c.2386C>G	c.(2386-2388)Cgc>Ggc	p.R796G	KCNH2_ENST00000262186.5_Missense_Mutation_p.R892G|KCNH2_ENST00000330883.4_Missense_Mutation_p.R552G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	892					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.R892G(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGCGCCTGCGGAAGGACAAC	0.647000													19	47					0	0	0.007413	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078204	90078204	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:90078204G>T	ENST00000390270.2	+	0	338																											TGGCATCCCAGACAGGTTCAG	0.547000													24	75					3.1745e-13	4.59305e-13	0.008361	1	0
MED23	9439	broad.mit.edu	37	6	131937143	131937143	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:131937143C>A	ENST00000403834.3	-	10	954		c.e10-1		MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000539158.1_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000368053.4_Splice_Site|MED23_ENST00000540546.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000368068.3_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CAAACAGATCCTTTAAAGAAA	0.338000													10	13					7.48243e-07	9.16559e-07	0.006214	1	0
HMMR	3161	broad.mit.edu	37	5	162909666	162909666	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:162909666C>T	ENST00000416990.2	+	13	1556	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	HMMR_ENST00000432118.2_Silent_p.A381A|HMMR_ENST00000353866.3_Silent_p.A452A|HMMR_ENST00000358715.3_Silent_p.A467A|HMMR_ENST00000393915.4_Silent_p.A468A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	467						cell surface|cytoplasm	hyaluronic acid binding	p.A467A(2)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CGTTAACAGCCAGTGAGATAG	0.348000													9	56					0	0	0.000978	0	0
FAT4	79633	broad.mit.edu	37	4	126337745	126337745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:126337745G>C	ENST00000394329.3	+	6	6999	c.6986G>C	c.(6985-6987)cGc>cCc	p.R2329P	FAT4_ENST00000335110.5_Missense_Mutation_p.R627P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2329	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2329P(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAAGAGCGCTTTGTCTTA	0.428000													46	161					0	0	0.002522	0	0
NEFH	4744	broad.mit.edu	37	22	29886353	29886353	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr22:29886353G>A	ENST00000310624.6	+	4	2757	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	914	Tail.				cell death|nervous system development	neurofilament		p.K908K(2)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGAGGCTCCTG	0.498000													6	17					0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563917	176563917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176563917G>T	ENST00000367662.3	+	3	2341	c.1177G>T	c.(1177-1179)Ggt>Tgt	p.G393C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G393C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	393					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G393C(2)		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						AGACCAGTCTGGTCCCCTGAA	0.592000													7	243					1.6384e-10	2.21036e-10	0.001984	1	0
WNT1	7471	broad.mit.edu	37	12	49373354	49373354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:49373354C>A	ENST00000293549.3	+	2	244	c.208C>A	c.(208-210)Cgt>Agt	p.R70S		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	70					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.R70S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAAACAGCGGCGTCTGATACG	0.592000													35	118					1.62957e-23	2.73421e-23	0.008740	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659372	176659372	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176659372A>T	ENST00000367662.3	+	5	3401	c.2237A>T	c.(2236-2238)aAa>aTa	p.K746I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K746I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	746	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.K746I(4)		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						CATGTCTTTAAAGGAGTCAGT	0.547000													48	267					0	0	0.003610	0	0
DEFB112	245915	broad.mit.edu	37	6	50016257	50016257	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:50016257G>T	ENST00000322246.4	-	1	107	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	36					defense response to bacterium	extracellular region		p.I36I(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACCTGTGCTGATTTTCTCTG	0.318000													7	51					0.00307968	0.0033119	0.003080	1	0
SHANK1	50944	broad.mit.edu	37	19	51169662	51169662	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51169662G>T	ENST00000293441.1	-	22	5573	c.5555C>A	c.(5554-5556)cCc>cAc	p.P1852H	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1860H|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1239H|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1843H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1852	Poly-Pro.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P1852H(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAGGGCCCGGGCAGAGGTGG	0.677000													12	40					3.07112e-06	3.6284e-06	0.000978	1	0
ZNF114	163071	broad.mit.edu	37	19	48790040	48790040	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:48790040C>T	ENST00000595607.1	+	6	1653	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	ZNF114_ENST00000600687.1_Missense_Mutation_p.P387S|ZNF114_ENST00000597695.1_Missense_Mutation_p.P353S|ZNF114_ENST00000315849.1_Missense_Mutation_p.P387S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P387S(2)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGGAGAGAAACCCTATAAATG	0.408000													49	166					0	0	0.003610	0	0
IL4R	3566	broad.mit.edu	37	16	27374034	27374034	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:27374034A>T	ENST00000395762.2	+	11	1620	c.1361A>T	c.(1360-1362)aAg>aTg	p.K454M	IL4R_ENST00000543915.2_Missense_Mutation_p.K454M|IL4R_ENST00000170630.2_Missense_Mutation_p.K454M|IL4R_ENST00000380922.3_Missense_Mutation_p.K439M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	454	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.K454M(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGGGCCCAAGGAGGCACCT	0.617000													50	92					0	0	0.003610	0	0
MAF1	84232	broad.mit.edu	37	8	145160669	145160669	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:145160669G>T	ENST00000534585.1	+	2	474	c.83_splice	c.e2+1	p.R28_splice	MAF1_ENST00000532522.1_Splice_Site_p.R28_splice|MAF1_ENST00000322428.5_Splice_Site_p.R28_splice			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	28					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.R28M(2)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	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;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCATTGGCAGGTGAGGCAGG	0.562000													21	74					3.01185e-09	3.92195e-09	0.003954	1	0
OR52B4	143496	broad.mit.edu	37	11	4389468	4389468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:4389468G>A	ENST00000408920.2	-	1	148	c.58C>T	c.(58-60)Cct>Tct	p.P20S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P20S(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTAGGCCAGGGATGCCCAGC	0.512000													13	26					0	0	0.004007	0	0
BMP10	27302	broad.mit.edu	37	2	69098254	69098254	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:69098254C>A	ENST00000295379.1	-	1	395	c.237G>T	c.(235-237)gtG>gtT	p.V79V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	79					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.V79V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGGTGGGTCCACCTTGGCTG	0.468000													39	124					3.62531e-18	5.79082e-18	0.004289	1	0
DTX4	23220	broad.mit.edu	37	11	58949495	58949495	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:58949495A>T	ENST00000227451.3	+	2	599	c.495A>T	c.(493-495)acA>acT	p.T165T	DTX4_ENST00000532982.1_Silent_p.T59T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	165					Notch signaling pathway	cytoplasm	zinc ion binding	p.T165T(2)|p.T59T(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCATGGTCACAGGGACCTTGC	0.637000													21	68					0	0	0.002299	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188891	11188891	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:11188891C>T	ENST00000382435.4	+	1	495	c.276C>T	c.(274-276)gaC>gaT	p.D92D		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	92	DUF6 1.					integral to membrane		p.D92D(2)									TGCGTGGCGACCCCCTTCTGG	0.592000													84	363					0	0	0.003610	0	0
SRRM2	23524	broad.mit.edu	37	16	2818263	2818263	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2818263G>T	ENST00000301740.8	+	11	8282		c.e11+1		SRRM2_ENST00000574593.1_Splice_Site	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2							Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.?(2)		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						CACTGAAGAGGTGAGGGAGCT	0.557000													31	59					6.00712e-18	9.54447e-18	0.002445	1	0
DDX58	23586	broad.mit.edu	37	9	32487951	32487951	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:32487951G>A	ENST00000379882.1	-	7	1226	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	DDX58_ENST00000545044.1_Silent_p.L199L|DDX58_ENST00000379868.1_Silent_p.L199L|DDX58_ENST00000379883.2_Silent_p.L402L|DDX58_ENST00000542096.1_Silent_p.L331L			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	402	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.L402L(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ACCTGGGGCAGTGGGCCTGAA	0.403000													20	62					0	0	0.010504	0	0
COL14A1	7373	broad.mit.edu	37	8	121170441	121170441	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:121170441G>C	ENST00000297848.3	+	3	431	c.161G>C	c.(160-162)aGa>aCa	p.R54T	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R54T|COL14A1_ENST00000537875.1_Missense_Mutation_p.R54T|COL14A1_ENST00000309791.4_Missense_Mutation_p.R54T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	54	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R54T(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGCTCCAAGAGGGAAATTT	0.363000													14	47					0	0	0.002450	0	0
ANK2	287	broad.mit.edu	37	4	114274319	114274319	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:114274319C>G	ENST00000357077.4	+	38	4598	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I1482M|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1482					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.I1515M(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGATTTGATCAAAATGACCG	0.458000													22	89					0	0	0.002299	0	0
RSRC2	65117	broad.mit.edu	37	12	122990163	122990163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:122990163G>A	ENST00000331738.7	-	10	1361	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q358*|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	406								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTTCATACTGAGCATCTAAA	0.393000													43	99					0	0	0.002852	0	0
CACNA1E	777	broad.mit.edu	37	1	181708286	181708286	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:181708286A>T	ENST00000526775.1	+	24	3724	c.3559A>T	c.(3559-3561)Ata>Tta	p.I1187L	CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1206L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1138L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1157L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I813L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1206L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1187L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1206					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1206L(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGCAGATGATAGACCAAGG	0.532000													51	233					0	0	0.003610	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982786	42982786	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:42982786C>A	ENST00000418176.1	+	2	2139	c.105C>A	c.(103-105)gcC>gcA	p.A35A	KRBOX1_ENST00000426937.1_Silent_p.A35A|KRBOX1_ENST00000383748.4_Silent_p.A35A|KRBOX1_ENST00000418093.2_3'UTR			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	35	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.A35A(4)		lung(2)	2						TGGTGCCTGCCGAGAGGGCCT	0.537000													3	10					0.004672	0.00498846	0.004672	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202436667	202436667	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:202436667A>G	ENST00000439140.1	-	8	874	c.830T>C	c.(829-831)gTg>gCg	p.V277A	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.V277A|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.V277A|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.V277A	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	277								p.V277A(6)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CACTTACGTCACGGGATCTGT	0.348000													20	37					0	0	0.002299	0	0
OR2W1	26692	broad.mit.edu	37	6	29012092	29012092	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:29012092C>A	ENST00000377175.1	-	1	925	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287P(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGTAAATGAGCGGGTTGAGAC	0.423000													7	10					8.12818e-05	9.13468e-05	0.001984	1	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638159	19638159	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:19638159G>T	ENST00000555938.1	+	3	255	c.243G>T	c.(241-243)cgG>cgT	p.R81R	NDUFA13_ENST00000252576.5_Silent_p.R164R|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Silent_p.R81R|NDUFA13_ENST00000503283.1_Silent_p.R81R|NDUFA13_ENST00000507754.3_Silent_p.R81R														p.R164L(2)									AAACCGACCGGAGGTAGCACC	0.632000													9	59					5.4927e-09	7.10611e-09	0.004482	1	0
PRLR	5618	broad.mit.edu	37	5	35084585	35084585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:35084585G>C	ENST00000382002.5	-	5	786	c.360C>G	c.(358-360)gaC>gaG	p.D120E	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.D120E|PRLR_ENST00000348262.3_Missense_Mutation_p.D120E|PRLR_ENST00000397391.3_Missense_Mutation_p.D49E|PRLR_ENST00000513753.1_Missense_Mutation_p.D120E|PRLR_ENST00000542609.1_Missense_Mutation_p.D120E|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000231423.3_Missense_Mutation_p.D120E|PRLR_ENST00000511486.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	120	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.D120E(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTAAGTCACGTCCACATAAA	0.438000													70	272					0	0	0.003610	0	0
SKAP1	8631	broad.mit.edu	37	17	46247980	46247980	+	Nonsense_Mutation	SNP	G	G	A	rs142272724		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:46247980G>A	ENST00000336915.6	-	10	937	c.868C>T	c.(868-870)Cga>Tga	p.R290*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.R290*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	290	Interaction with FYB.				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	p.R290*(2)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CCTCCTTTTCGTCGAGTGCCA	0.413000													53	198					0	0	0.003610	0	0
GABRA5	2558	broad.mit.edu	37	15	27185175	27185175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:27185175G>T	ENST00000335625.5	+	9	1716	c.828G>T	c.(826-828)caG>caT	p.Q276H	GABRA5_ENST00000400081.3_Missense_Mutation_p.Q276H|GABRA5_ENST00000355395.5_Missense_Mutation_p.Q276H	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	276					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.Q276H(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTATCACAGGTGTCCTTTT	0.493000													10	44					4.68919e-08	5.93832e-08	0.008291	1	0
ZNF28	7576	broad.mit.edu	37	19	53311270	53311270	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:53311270C>A	ENST00000457749.2	-	3	251	c.132G>T	c.(130-132)ctG>ctT	p.L44L	ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_Silent_p.L8L|ZNF28_ENST00000594602.1_Silent_p.L44L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L44L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGGGAGACCAGGTTCCTAT	0.493000													47	156					1.00221e-16	1.55929e-16	0.003610	1	0
MUC16	94025	broad.mit.edu	37	19	9071876	9071876	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9071876A>G	ENST00000397910.4	-	3	15773	c.15570T>C	c.(15568-15570)ccT>ccC	p.P5190P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5190P(4)|p.P823P(2)		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						CTCTCAGTCTAGGAGTCAAGA	0.483000													129	328					0	0	0.003610	0	0
OR6X1	390260	broad.mit.edu	37	11	123624331	123624331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:123624331A>G	ENST00000327930.2	-	1	922	c.896T>C	c.(895-897)tTa>tCa	p.L299S		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L299S(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCCTTTCTTAAGGCTCCCTT	0.378000													58	117					0	0	0.003610	0	0
OR2B11	127623	broad.mit.edu	37	1	247614966	247614966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247614966C>A	ENST00000318749.6	-	1	342	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGTGGAAGACTGCATATTGC	0.592000													70	74					1.48072e-28	2.57087e-28	0.003610	1	0
ZNF516	9658	broad.mit.edu	37	18	74154334	74154334	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74154334G>A	ENST00000443185.2	-	3	994	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A226V(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCCCCTGCGCGGTGATGTG	0.697000													11	31					0	0	0.001368	0	0
RASA3	22821	broad.mit.edu	37	13	114762162	114762162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:114762162G>C	ENST00000334062.7	-	21	2107	c.1986C>G	c.(1984-1986)tgC>tgG	p.C662W	RASA3_ENST00000389544.4_Missense_Mutation_p.C630W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	662	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.C662W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGGCCTCCACGCAGTTGTTGG	0.607000													25	93					0	0	0.003954	0	0
KCNA4	3739	broad.mit.edu	37	11	30033978	30033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30033978C>T	ENST00000328224.6	-	2	1481	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R83Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCTCCTCCTCCGACTACCCCG	0.637000													28	80					0	0	0.005443	0	0
FSCB	84075	broad.mit.edu	37	14	44976031	44976031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:44976031C>A	ENST00000340446.4	-	1	451	c.160G>T	c.(160-162)Gag>Tag	p.E54*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	54						cilium		p.E54*(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCTGAAGCTCAGAAGATACT	0.413000													47	173					9.58827e-17	1.49567e-16	0.003610	1	0
ATAD3C	219293	broad.mit.edu	37	1	1403796	1403796	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:1403796G>C	ENST00000378785.2	+	12	2117	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	374							ATP binding|nucleoside-triphosphatase activity	p.L374L(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACGGGGTCCTGACCGAGGCCA	0.672000													8	31					0	0	0.004482	0	0
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:12758931C>A	ENST00000381774.4	-	4	997	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	CPPED1_ENST00000433677.2_Missense_Mutation_p.G111W|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	253							hydrolase activity|metal ion binding	p.G253W(2)|p.G253R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TAGGTACCCCCGGCATTCCTG	0.582000													40	38					6.2361e-21	1.01506e-20	0.007835	1	0
MPPED2	744	broad.mit.edu	37	11	30433103	30433103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30433103G>A	ENST00000358117.5	-	6	919	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	266					nervous system development		hydrolase activity|metal ion binding	p.T266M(3)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTGATGTACGTTGTGTAACC	0.463000													19	41					0	0	0.010504	0	0
KCNA4	3739	broad.mit.edu	37	11	30034116	30034116	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30034116C>A	ENST00000328224.6	-	2	1343	c.110G>T	c.(109-111)aGg>aTg	p.R37M		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	37						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R37M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGCAGCTGCCCTGGAGTGAGC	0.667000													14	45					1.40151e-16	2.16926e-16	0.010504	1	0
ZBTB47	92999	broad.mit.edu	37	3	42703101	42703101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:42703101C>T	ENST00000457842.3	+	3	1879	c.470C>T	c.(469-471)gCc>gTc	p.A157V	ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79V|ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533V	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A533V(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TACACCATGGCCCACGTGCGT	0.522000													13	45					0	0	0.002450	0	0
NTRK3	4916	broad.mit.edu	37	15	88472600	88472600	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:88472600C>A	ENST00000394480.1	-	17	2276	c.1955G>T	c.(1954-1956)gGg>gTg	p.G652V	NTRK3_ENST00000355254.2_Missense_Mutation_p.G652V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G644V|NTRK3_ENST00000360948.2_Missense_Mutation_p.G652V|NTRK3_ENST00000542733.2_Missense_Mutation_p.G554V|NTRK3_ENST00000557856.1_Missense_Mutation_p.G644V|NTRK3_ENST00000357724.2_Missense_Mutation_p.G644V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G652V(4)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGGAGAGCCCCAGCTCACC	0.612000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			15	38					0.00400662	0.00430102	0.004007	1	0
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:113657364C>T	ENST00000297405.5	-	20	3528	c.3284G>A	c.(3283-3285)tGg>tAg	p.W1095*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1095*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1055*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W991*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1095	CUB 6.					integral to membrane|plasma membrane		p.W1095*(2)|p.W1055*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAACAGTCCATGTACAATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	12					0	0	0.009096	0	0
JADE2	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:133909338A>G	ENST00000395003.1	+	10	1617	c.1438A>G	c.(1438-1440)Aga>Gga	p.R480G	PHF15_ENST00000402835.1_Intron|PHF15_ENST00000282605.4_Missense_Mutation_p.R480G|PHF15_ENST00000361895.2_Missense_Mutation_p.R480G	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.R480G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512000													53	57					0	0	0.003610	0	0
KRT75	9119	broad.mit.edu	37	12	52827967	52827967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:52827967G>T	ENST00000252245.5	-	1	342	c.122C>A	c.(121-123)gCa>gAa	p.A41E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	41	Gly-rich.|Head.					keratin filament	structural molecule activity	p.A41E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACTCCCTGCTGCAGAGCGGGC	0.667000													13	58					4.36969e-10	5.8295e-10	0.001855	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3447625	3447625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:3447625T>C	ENST00000324266.5	+	6	1688	c.1493T>C	c.(1492-1494)cTg>cCg	p.L498P	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L498P	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	498							binding	p.L498P(2)									CAGGAGTCGCTGGATAGACTG	0.592000													12	32					0	0	0.001368	0	0
ASPM	259266	broad.mit.edu	37	1	197074309	197074309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:197074309A>C	ENST00000367409.4	-	18	4328	c.4072T>G	c.(4072-4074)Tgg>Ggg	p.W1358G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1358	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.W1358G(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATCTTCTCCAATATCCCTGG	0.284000													5	16					0	0	0.000602	0	0
PLK4	10733	broad.mit.edu	37	4	128804445	128804445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:128804445G>T	ENST00000270861.5	+	3	429	c.155G>T	c.(154-156)gGa>gTa	p.G52V	PLK4_ENST00000513090.1_Intron|PLK4_ENST00000515069.1_Missense_Mutation_p.G52V|PLK4_ENST00000514379.1_Missense_Mutation_p.G11V|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000507249.1_Missense_Mutation_p.G52V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	52	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G52V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TACAAAGCAGGAATGGTACAG	0.313000													13	41					3.32936e-07	4.09504e-07	0.006122	1	0
FLG	2312	broad.mit.edu	37	1	152276900	152276900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152276900G>T	ENST00000368799.1	-	3	10497	c.10462C>A	c.(10462-10464)Caa>Aaa	p.Q3488K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3488	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q3488K(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)			TTACGAGTTTGTCTGCTGGCA	0.557000									Ichthyosis				24	1201					3.41278e-10	4.58354e-10	0.004990	1	0
CACNG7	59284	broad.mit.edu	37	19	54445373	54445373	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54445373C>T	ENST00000391767.1	+	6	866	c.654C>T	c.(652-654)cgC>cgT	p.R218R	CACNG7_ENST00000222212.2_Silent_p.R218R			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	218				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R218R(2)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTTCTACCGCCCGCGTCTCA	0.687000													29	45					0	0	0.006320	0	0
ZNF135	7694	broad.mit.edu	37	19	58579298	58579298	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:58579298C>A	ENST00000506786.1	+	5	1874	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Silent_p.T506T|ZNF135_ENST00000511556.1_Silent_p.T494T|ZNF135_ENST00000313434.5_Silent_p.T482T|ZNF135_ENST00000439855.2_Silent_p.T482T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	494					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T506T(2)|p.T482T(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACACCTCACCCAACACCAGC	0.567000													25	65					1.26454e-06	1.54269e-06	0.005443	1	0
CCT6B	10693	broad.mit.edu	37	17	33266313	33266313	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:33266313T>A	ENST00000314144.5	-	10	1217	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	CCT6B_ENST00000421975.3_Missense_Mutation_p.N331Y|CCT6B_ENST00000436961.3_Missense_Mutation_p.N323Y	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	368					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.N368Y(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAGCAAGGGTTAACACACTCC	0.343000													35	99					0	0	0.003755	0	0
MUC17	140453	broad.mit.edu	37	7	100677932	100677932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:100677932G>A	ENST00000306151.4	+	3	3299	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1079	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1079T(2)		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)					TTATTCTCAAGCCAGTTCATC	0.502000													375	481					0	0	0.003610	0	0
CDH7	1005	broad.mit.edu	37	18	63547735	63547735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:63547735G>T	ENST00000397968.2	+	12	2389	c.1963G>T	c.(1963-1965)Gac>Tac	p.D655Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D655Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D655Y(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGATACGATGACGAGGGCGG	0.493000													20	58					7.45023e-12	1.04025e-11	0.010504	1	0
FCRL5	83416	broad.mit.edu	37	1	157514076	157514076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:157514076G>T	ENST00000361835.3	-	5	977	c.820C>A	c.(820-822)Ccg>Acg	p.P274T	FCRL5_ENST00000368191.3_Missense_Mutation_p.P189T|FCRL5_ENST00000368190.3_Missense_Mutation_p.P274T|FCRL5_ENST00000368189.3_Missense_Mutation_p.P274T|FCRL5_ENST00000356953.4_Missense_Mutation_p.P274T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	274						integral to membrane|plasma membrane	receptor activity	p.P274T(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGATCTCGGGCTGTCAGAT	0.507000													168	111					1.52288e-82	2.90511e-82	0.003610	1	0
AGAP6	414189	broad.mit.edu	37	10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	259					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562000													87	233					7.79638e-53	1.46856e-52	0.003610	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47491246	47491246	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:47491246G>T	ENST00000404338.3	+	3	3827	c.3826_splice	c.e3-1	p.G1276_splice		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1276	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.G1276V(4)									TTCTCCTCAGGACTGAGCACG	0.552000													12	29					0.00010058	0.000112612	0.001368	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177108	89177108	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:89177108G>T	ENST00000561129.2	+	1	154	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TGIF2LX_ENST00000283891.5_Silent_p.P8P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P8P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGACGGCCCGGCTGAGACCC	0.527000													32	59					9.80977e-26	1.67887e-25	0.004289	1	0
EBF1	1879	broad.mit.edu	37	5	158135059	158135059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:158135059A>G	ENST00000313708.6	-	15	1954	c.1672T>C	c.(1672-1674)Ttc>Ctc	p.F558L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.F527L|EBF1_ENST00000517373.1_Missense_Mutation_p.F490L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	558					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.F558L(2)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGTGCGAAAGCACTCTTC	0.622000			T	HMGA2	lipoma								9	6					0	0	0.008291	0	0
KCNU1	157855	broad.mit.edu	37	8	36691143	36691143	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:36691143C>G	ENST00000399881.3	+	11	1215	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	393	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S393C(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTTCTGGATCTGCAATGAAG	0.398000													9	26					0	0	0.008291	0	0
RUNX3	864	broad.mit.edu	37	1	25291042	25291042	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:25291042G>A	ENST00000399916.1	-	1	459	c.21C>T	c.(19-21)ttC>ttT	p.F7F	RUNX3_ENST00000338888.3_Silent_p.F7F	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	252					cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.F7F(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGAAGGAGTCGAAGATGCTGT	0.587000													5	16					0	0	0.000602	0	0
THEMIS	387357	broad.mit.edu	37	6	128134882	128134882	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:128134882G>C	ENST00000368250.1	-	5	1165	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q267E|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q302E|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q302E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	302	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q302E(2)		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						TTCCCAGGCTGTAAAATGCTT	0.398000													35	68					0	0	0.003271	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726441	25726441	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:25726441C>G	ENST00000297012.3	-	1	349	c.315G>C	c.(313-315)caG>caC	p.Q105H		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	105					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q105H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGACTCCGCCCTGGGCAATGG	0.507000													5	300					0	0	0.001168	0	0
SMARCC1	6599	broad.mit.edu	37	3	47663809	47663809	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:47663809C>G	ENST00000254480.5	-	25	2788	c.2669G>C	c.(2668-2670)aGa>aCa	p.R890T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	890					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.R890T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTGATCTTTCTTTCTTCCAC	0.378000													53	151					0	0	0.003610	0	0
PLXNC1	10154	broad.mit.edu	37	12	94613897	94613897	+	Silent	SNP	C	C	A	rs146510015		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:94613897C>A	ENST00000258526.4	+	6	1909	c.1660C>A	c.(1660-1662)Cgg>Agg	p.R554R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	554					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.R554R(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGCCCAACCGGACCTGCAC	0.458000													47	118					5.34276e-22	8.81628e-22	0.003610	1	0
NELL1	4745	broad.mit.edu	37	11	21592424	21592424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:21592424G>T	ENST00000298925.5	+	19	2332	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C	NELL1_ENST00000357134.5_Missense_Mutation_p.G699C|NELL1_ENST00000325319.5_Missense_Mutation_p.G642C|NELL1_ENST00000532434.1_Missense_Mutation_p.G652C|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	699	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G699C(2)|p.G699S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGACCAAAATGGTCACAAGCT	0.473000													32	59					9.65021e-13	1.37959e-12	0.002096	1	0
ACSL5	51703	broad.mit.edu	37	10	114169302	114169302	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:114169302G>T	ENST00000393081.1	+	7	877	c.570G>T	c.(568-570)aaG>aaT	p.K190N	ACSL5_ENST00000354273.4_Missense_Mutation_p.K190N|ACSL5_ENST00000433418.1_Missense_Mutation_p.K190N|ACSL5_ENST00000356116.1_Missense_Mutation_p.K246N|ACSL5_ENST00000354655.4_Missense_Mutation_p.K190N	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	190					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.K246N(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCCAAAAGGCATTGGTGC	0.498000													46	118					5.73435e-26	9.87033e-26	0.003610	1	0
OXT	5020	broad.mit.edu	37	20	3052311	3052311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3052311C>A	ENST00000217386.2	+	1	46	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	4					signal transduction		neurohypophyseal hormone activity	p.P4T(2)		lung(2)	2					Oxytocin(DB00107)	CATGGCCGGCCCCAGCCTCGC	0.692000													4	15					2.17888e-05	2.52446e-05	0.006214	1	0
CA10	56934	broad.mit.edu	37	17	49731069	49731069	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:49731069A>T	ENST00000451037.2	-	5	1434	c.494T>A	c.(493-495)cTa>cAa	p.L165Q	CA10_ENST00000285273.4_Missense_Mutation_p.L165Q|CA10_ENST00000340813.6_Missense_Mutation_p.L171Q|CA10_ENST00000442502.2_Missense_Mutation_p.L165Q|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.L90Q	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	165					brain development			p.L165Q(2)		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)			ATTCGTATATAGCTCATGGTT	0.408000													29	80					0	0	0.008361	0	0
AHRR	57491	broad.mit.edu	37	5	434430	434430	+	Silent	SNP	G	G	A	rs111334085		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:434430G>A	ENST00000316418.5	+	12	1685	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P	AHRR_ENST00000505113.1_Silent_p.P529P|AHRR_ENST00000512529.1_Silent_p.P375P|AHRR_ENST00000506456.1_Silent_p.P385P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.P543P(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTGTGGTCCGACGCTGCTGC	0.622000													18	76					0	0	0.007413	0	0
BBS10	79738	broad.mit.edu	37	12	76740022	76740022	+	Silent	SNP	C	C	G	rs150530553		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:76740022C>G	ENST00000393262.3	-	2	1826	c.1743G>C	c.(1741-1743)ccG>ccC	p.P581P		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	581					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.P581P(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TACCCATATTCGGTAACTTAC	0.373000									Bardet-Biedl syndrome				19	53					0	0	0.007413	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786508	22786508	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr22:22786508C>T	ENST00000390301.2	+	0	98																											GTCCTGGGCCCAGTCTGTGCT	0.562000											OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	63					0	0	0.002299	0	0
SLC24A3	57419	broad.mit.edu	37	20	19674054	19674054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:19674054C>A	ENST00000328041.6	+	13	1673	c.1476C>A	c.(1474-1476)taC>taA	p.Y492*	RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	492						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.Y492*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTCTCCTACATGATGGTGT	0.488000													22	67					2.41591e-17	3.80504e-17	0.004656	1	0
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:32209435C>A	ENST00000396193.1	-	3	863	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Q90H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTATCCAGCTGTGGCAATT	0.483000													12	77					4.92203e-23	8.21252e-23	0.006230	1	0
ERBB4	2066	broad.mit.edu	37	2	212578346	212578346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:212578346C>A	ENST00000342788.4	-	8	1221	c.911G>T	c.(910-912)tGt>tTt	p.C304F	ERBB4_ENST00000402597.1_Missense_Mutation_p.C304F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C304F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	304	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	p.C304F(2)		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)		GGCACGCACACAAGAACTGGA	0.358000										TSP Lung(8;0.080)			17	20					9.7654e-05	0.000109541	0.007413	1	0
CCDC171	203238	broad.mit.edu	37	9	15591483	15591483	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:15591483A>T	ENST00000380701.3	+	5	800	c.472A>T	c.(472-474)Atg>Ttg	p.M158L	CCDC171_ENST00000297641.3_Missense_Mutation_p.M158L|CCDC171_ENST00000535968.1_Missense_Mutation_p.M158L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	158	Glu-rich.							p.M158L(1)									AAGAGACAATATGATCCAAAA	0.318000													3	36					0	0	0.004672	0	0
NUP155	9631	broad.mit.edu	37	5	37341209	37341209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:37341209C>A	ENST00000231498.3	-	11	1432	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	NUP155_ENST00000381843.2_Missense_Mutation_p.R351I|NUP155_ENST00000513532.1_Missense_Mutation_p.R410I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.R410I(2)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAAGAGCTCTATGTACTTT	0.353000													21	80					1.55795e-14	2.31566e-14	0.001882	1	0
IRAK3	11213	broad.mit.edu	37	12	66620547	66620547	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:66620547A>T	ENST00000261233.4	+	7	1119	c.698A>T	c.(697-699)gAg>gTg	p.E233V	IRAK3_ENST00000457197.2_Missense_Mutation_p.E172V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	233	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.E233V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTTTACAGAGACTGAGAAG	0.348000													20	70					0	0	0.002780	0	0
KRT3	3850	broad.mit.edu	37	12	53189613	53189613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:53189613C>A	ENST00000417996.2	-	1	288	c.214G>T	c.(214-216)Gct>Tct	p.A72S	KRT3_ENST00000309505.3_Missense_Mutation_p.A72S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	72	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.A72S(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCGCCAGCTGCCACGCTG	0.657000													35	101					4.01765e-15	6.0619e-15	0.009718	1	0
TLE3	7090	broad.mit.edu	37	15	70353100	70353100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:70353100C>G	ENST00000442299.2	-	8	1707	c.589G>C	c.(589-591)Gct>Cct	p.A197P	TLE3_ENST00000451782.2_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000558939.1_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	197	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A197P(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGAGAAGCTGaactcctc	0.582000													4	14					0	0	0.009096	0	0
RELN	5649	broad.mit.edu	37	7	103137039	103137039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:103137039G>T	ENST00000424685.2	-	56	9286	c.9127C>A	c.(9127-9129)Ctg>Atg	p.L3043M	RELN_ENST00000428762.1_Missense_Mutation_p.L3043M|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.L3043M			P78509	RELN_HUMAN	reelin	3043					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.L3043M(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGTTGTCCAGTGCCCACTGA	0.468000													54	45					9.86064e-34	1.76842e-33	0.003610	1	0
L1TD1	54596	broad.mit.edu	37	1	62675610	62675610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:62675610T>A	ENST00000498273.1	+	4	1459	c.1164T>A	c.(1162-1164)gaT>gaA	p.D388E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	388	Glu-rich.							p.D388E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGCTGGATGAAGAGGCCT	0.488000													31	79					0	0	0.009535	0	0
CMTR2	55783	broad.mit.edu	37	16	71318653	71318653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71318653C>A	ENST00000338099.5	-	3	1507	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E391*			Q8IYT2	FTSJ1_HUMAN		391						integral to membrane	methyltransferase activity|nucleic acid binding	p.E391*(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCAGCTTTTCTTGTTCCGCC	0.313000													5	13					0.000602214	0.000659463	0.000602	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147914552	147914552	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:147914552C>G	ENST00000361727.3	+	19	3699	c.3183C>G	c.(3181-3183)ccC>ccG	p.P1061P	CNTNAP2_ENST00000538075.1_Silent_p.P120P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1061P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGGCGCCCTGCATTCTCC	0.567000										HNSCC(39;0.1)			41	125					0	0	0.007835	0	0
HR	55806	broad.mit.edu	37	8	21977932	21977932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:21977932G>A	ENST00000381418.4	-	12	4179	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	HR_ENST00000312841.8_Missense_Mutation_p.A900V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	900							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.A900V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGCTCAGCGCCTGCACCTG	0.632000													33	91					0	0	0.003271	0	0
HMP19	51617	broad.mit.edu	37	5	173491286	173491286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:173491286A>T	ENST00000303177.3	+	3	443	c.181A>T	c.(181-183)Aag>Tag	p.K61*	NSG2_ENST00000521585.1_Nonsense_Mutation_p.K61*|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1												p.K61*(2)									GAACAAAGGGAAGTTCCGGGT	0.463000													53	60					0	0	0.003610	0	0
AMACR	23600	broad.mit.edu	37	5	33989433	33989433	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:33989433T>A	ENST00000335606.6	-	5	1002	c.914A>T	c.(913-915)cAt>cTt	p.H305L	AMACR_ENST00000502637.1_Missense_Mutation_p.H290L|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.H305L|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	305					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	p.H305L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTGATCATGATGAACAACCTC	0.532000													44	84					0	0	0.002852	0	0
LPPR4	9890	broad.mit.edu	37	1	99771388	99771388	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:99771388A>G	ENST00000370185.3	+	7	1611	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	LPPR4_ENST00000370184.1_Missense_Mutation_p.T214A|LPPR4_ENST00000457765.1_Missense_Mutation_p.T314A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		372							phosphatidate phosphatase activity	p.T372A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATTGCTCATACAGAAGGCAT	0.468000													40	91					0	0	0.002522	0	0
WDR81	124997	broad.mit.edu	37	17	1640949	1640949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:1640949A>T	ENST00000409644.1	+	10	5796	c.5796A>T	c.(5794-5796)tcA>tcT	p.S1932S	WDR81_ENST00000419248.1_Silent_p.S705S|WDR81_ENST00000446363.1_Silent_p.S571S|WDR81_ENST00000309182.5_Silent_p.S881S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.S563S|WDR81_ENST00000437219.2_Silent_p.S729S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	705								p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTGGGCTCAGACAACGGGG	0.652000													22	35					0	0	0.005443	0	0
OVCH1	341350	broad.mit.edu	37	12	29597135	29597135	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:29597135A>T	ENST00000318184.5	-	24	2959	c.2960T>A	c.(2959-2961)cTg>cAg	p.L987Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	987					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L987Q(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGCTTGGTCAGAAGAACATC	0.418000													24	66					0	0	0.002299	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181953	140181953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140181953C>A	ENST00000522353.2	+	1	1171	c.1171C>A	c.(1171-1173)Ccc>Acc	p.P391T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P391T|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1												p.P391T(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGACGCCCCACGTCCC	0.567000													60	200					5.10652e-33	9.07658e-33	0.003610	1	0
SIDT2	51092	broad.mit.edu	37	11	117058369	117058369	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:117058369T>A	ENST00000324225.4	+	12	1644	c.1113T>A	c.(1111-1113)ggT>ggA	p.G371G	SIDT2_ENST00000431081.2_Silent_p.G375G	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	371						integral to membrane|lysosomal membrane		p.G371G(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTACCGATGGTCTGGTTGACA	0.612000													31	72					0	0	0.006230	0	0
KIRREL3	84623	broad.mit.edu	37	11	126316711	126316711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:126316711G>T	ENST00000525144.2	-	9	1317	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.C356*|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.C356*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	356	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGGTCCAGGCGCAGCTGAAGA	0.627000													3	5					0.004672	0.00498846	0.004672	1	0
OR11H6	122748	broad.mit.edu	37	14	20692109	20692109	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:20692109C>A	ENST00000315519.2	+	1	319	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTACATCCTTCTGGGAAACTT	0.463000													35	76					3.67414e-24	6.21698e-24	0.002445	1	0
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:56459349G>T	ENST00000291971.3	+	1	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W27C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	27						cytoplasm	ATP binding	p.W27C(2)|p.W27*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCGCCCTGGACATTCTCTT	0.512000													24	129					3.08376e-08	3.93854e-08	0.003330	1	0
CHST4	10164	broad.mit.edu	37	16	71571552	71571552	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71571552C>A	ENST00000338482.5	+	3	1315	c.972C>A	c.(970-972)gcC>gcA	p.A324A	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.A324A|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Silent_p.A324A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	324					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.A324A(2)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACACAAATGCCAGGGATGCCC	0.522000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	29					1.3612e-06	1.65724e-06	0.003163	1	0
VIT	5212	broad.mit.edu	37	2	37000953	37000953	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:37000953C>T	ENST00000379242.3	+	8	1001	c.699C>T	c.(697-699)acC>acT	p.T233T	VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Silent_p.T233T|VIT_ENST00000404084.1_Intron|VIT_ENST00000389975.3_Silent_p.T233T|VIT_ENST00000401530.1_Silent_p.T233T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	233						proteinaceous extracellular matrix		p.T233T(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACTGCCACCTACACAAGCA	0.403000													9	30					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179642042	179642042	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179642042C>A	ENST00000589042.1	-	27	4872	c.4648G>T	c.(4648-4650)Gtg>Ttg	p.V1550L	TTN_ENST00000360870.5_Missense_Mutation_p.V1550L|TTN_ENST00000591111.1_Missense_Mutation_p.V1550L|TTN_ENST00000460472.2_Missense_Mutation_p.V1504L|TTN_ENST00000342175.6_Missense_Mutation_p.V1504L|TTN_ENST00000342992.6_Missense_Mutation_p.V1550L|TTN_ENST00000359218.5_Missense_Mutation_p.V1504L|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1550							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V1504L(6)|p.V1550L(6)		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)			TGATGTTCCACAGCTGAAAGA	0.348000													21	37					1.55795e-14	2.31566e-14	0.001882	1	0
HGF	3082	broad.mit.edu	37	7	81331986	81331986	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:81331986G>T	ENST00000222390.5	-	18	2324	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	HGF_ENST00000457544.2_Missense_Mutation_p.P695T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	700	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P700T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGACGATTTGGAATGGCACAT	0.398000													29	17					1.32181e-22	2.19934e-22	0.007291	1	0
AK5	26289	broad.mit.edu	37	1	77987585	77987585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:77987585G>T	ENST00000344720.5	+	12	2333	c.1307G>T	c.(1306-1308)gGc>gTc	p.G436V	AK5_ENST00000354567.2_Missense_Mutation_p.G462V	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	462					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.G462V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTGATTGACGGCTATCCTCGG	0.577000													10	30					1.08611e-07	1.35537e-07	0.000978	1	0
VDR	7421	broad.mit.edu	37	12	48238559	48238559	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:48238559C>A	ENST00000229022.3	-	11	1535	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	VDR_ENST00000395324.2_Silent_p.V418V|VDR_ENST00000549336.1_Silent_p.V418V|VDR_ENST00000550325.1_Silent_p.V468V|VDR_ENST00000535672.1_Silent_p.V386V	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	418	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	p.V418V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACACTTCGAGCACAAGGGGCG	0.632000													31	94					4.31634e-10	5.78408e-10	0.002445	1	0
ABCA13	154664	broad.mit.edu	37	7	48550739	48550739	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:48550739A>T	ENST00000435803.1	+	51	13608	c.13584A>T	c.(13582-13584)acA>acT	p.T4528T	ABCA13_ENST00000544596.1_Silent_p.T258T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4528					transport	integral to membrane	ATP binding|ATPase activity	p.T4473T(2)|p.T4528T(2)		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						TCCAGTTAACAGCTTTTACTT	0.458000													12	97					0	0	0.001855	0	0
PRRC1	133619	broad.mit.edu	37	5	126859188	126859188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:126859188G>C	ENST00000442138.2	+	2	163	c.17G>C	c.(16-18)gGa>gCa	p.G6A	PRRC1_ENST00000512635.2_Missense_Mutation_p.G6A|PRRC1_ENST00000296666.8_Missense_Mutation_p.G6A			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	6						Golgi apparatus		p.G6A(2)		endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAAGAGAGTGGAATAGAGACA	0.378000													10	30					0	0	0.006214	0	0
GPM6A	2823	broad.mit.edu	37	4	176573023	176573023	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:176573023A>T	ENST00000280187.7	-	5	548	c.503T>A	c.(502-504)gTg>gAg	p.V168E	GPM6A_ENST00000515090.1_Missense_Mutation_p.V161E|GPM6A_ENST00000393658.2_Missense_Mutation_p.V168E|GPM6A_ENST00000506894.1_Missense_Mutation_p.V157E	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	168						cell surface|integral to membrane		p.V168E(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TGCTCCCTCCACTAATGTGGT	0.458000													11	48					0	0	0.001855	0	0
MMP26	56547	broad.mit.edu	37	11	5011855	5011855	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:5011855G>A	ENST00000380390.1	+	4	564	c.348G>A	c.(346-348)aaG>aaA	p.K116K	MMP26_ENST00000300762.1_Silent_p.K116K			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	116					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K116K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGATATGAAGCCATCCGCAG	0.388000													20	68					0	0	0.010504	0	0
GPR128	84873	broad.mit.edu	37	3	100328780	100328780	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:100328780T>A	ENST00000273352.3	+	1	348	c.80T>A	c.(79-81)cTg>cAg	p.L27Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	27					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L27Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTTTGGGACTGGGCATCTGG	0.517000													28	98					0	0	0.009535	0	0
C14orf93	60686	broad.mit.edu	37	14	23468201	23468201	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:23468201G>A	ENST00000299088.6	-	2	461	c.32C>T	c.(31-33)cCt>cTt	p.P11L	C14orf93_ENST00000406429.2_Missense_Mutation_p.P11L|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Missense_Mutation_p.P11L|C14orf93_ENST00000397382.4_Missense_Mutation_p.P11L|C14orf93_ENST00000341470.4_Missense_Mutation_p.P11L|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	11						extracellular region		p.P11L(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCCACTGGGAGGGGAGAAGAG	0.592000													28	105					0	0	0.002096	0	0
FBN2	2201	broad.mit.edu	37	5	127710389	127710389	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:127710389C>A	ENST00000508053.1	-	21	3001	c.2027G>T	c.(2026-2028)aGt>aTt	p.S676I	FBN2_ENST00000508989.1_Missense_Mutation_p.S643I|FBN2_ENST00000262464.4_Missense_Mutation_p.S676I|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	676	EGF-like 10; 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	p.S676I(4)		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)		GGACCCTTCACTGTTGATGCA	0.507000													11	75					1.58986e-06	1.92002e-06	0.008291	1	0
NALCN	259232	broad.mit.edu	37	13	101997748	101997748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:101997748G>T	ENST00000251127.6	-	7	749	c.668C>A	c.(667-669)gCt>gAt	p.A223D	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A223D	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	223						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.A223D(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCTGGAATAGCTAAACTATT	0.398000													18	53					2.35188e-11	3.23857e-11	0.006122	1	0
TMEM2	23670	broad.mit.edu	37	9	74300223	74300223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:74300223C>A	ENST00000377044.4	-	24	4581	c.4042G>T	c.(4042-4044)Gtg>Ttg	p.V1348L	TMEM2_ENST00000396272.3_Missense_Mutation_p.V341L|TMEM2_ENST00000377066.5_Missense_Mutation_p.V1285L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1348						integral to membrane		p.V1348L(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTCAAGCACCCCAAGGCCC	0.443000													38	84					6.70999e-13	9.61551e-13	0.004289	1	0
FSCB	84075	broad.mit.edu	37	14	44974151	44974151	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:44974151A>T	ENST00000340446.4	-	1	2331	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	680	Ala-rich.					cilium		p.A680A(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTGAACTTCAGCAGGGGCCT	0.612000													15	36					0	0	0.003163	0	0
ADORA1	134	broad.mit.edu	37	1	203134620	203134620	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:203134620C>T	ENST00000367236.4	+	3	1494	c.573C>T	c.(571-573)ccC>ccT	p.P191P	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.P191P|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.P191P	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	191					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.P191P(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGGTGCTGCCCCCGCTTCTCC	0.567000													46	152					0	0	0.003610	0	0
SEMA7A	8482	broad.mit.edu	37	15	74707191	74707191	+	Silent	SNP	C	C	T	rs147975982		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:74707191C>T	ENST00000261918.4	-	9	1631	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SEMA7A_ENST00000542748.1_Silent_p.P196P|SEMA7A_ENST00000543145.2_Silent_p.P347P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	361	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.P361P(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCCAGGCCGCGGGTTGGGAA	0.627000													10	73					0	0	0.008291	0	0
NCL	4691	broad.mit.edu	37	2	232326670	232326670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:232326670A>G	ENST00000322723.4	-	3	434	c.194T>C	c.(193-195)gTc>gCc	p.V65A		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	65	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	p.V65A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGGGAAACGACCACCTTCTT	0.493000													8	312					0	0	0.003080	0	0
CHD6	84181	broad.mit.edu	37	20	40122580	40122580	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:40122580T>C	ENST00000373233.3	-	9	1274	c.1097A>G	c.(1096-1098)gAt>gGt	p.D366G	CHD6_ENST00000309279.7_Missense_Mutation_p.D366G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	366					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.D366G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAGTCTTCATCAGGCTAACA	0.488000													3	48					0	0	0.004672	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053711	35053711	+	Missense_Mutation	SNP	G	G	T	rs143845391		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:35053711G>T	ENST00000360359.3	+	22	3439	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1101						cytoplasm	protein binding	p.A1101S(1)|p.A427S(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGAAATCCGCAGTACGTGG	0.622000													10	26					1.58986e-06	1.92002e-06	0.008291	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395969	38395969	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:38395969A>G	ENST00000377698.3	+	2	377	c.224A>G	c.(223-225)gAt>gGt	p.D75G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GACCGGGCTGATGTGGATCGG	0.642000													40	122					0	0	0.003610	0	0
KDM5B	10765	broad.mit.edu	37	1	202699059	202699059	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:202699059C>G	ENST00000367265.3	-	26	5437	c.4273G>C	c.(4273-4275)Gaa>Caa	p.E1425Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1461Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1425					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E1425Q(2)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTAACTCGTTCCCACCGCTCA	0.478000													160	145					0	0	0.003610	0	0
HNF4A	3172	broad.mit.edu	37	20	43034856	43034856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:43034856C>A	ENST00000316099.3	+	2	363	c.274C>A	c.(274-276)Cac>Aac	p.H92N	HNF4A_ENST00000457232.1_Missense_Mutation_p.H70N|HNF4A_ENST00000443598.2_Missense_Mutation_p.H92N|HNF4A_ENST00000415691.1_Missense_Mutation_p.H92N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	92					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.H92N(4)|p.H70N(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGAAGAACCACATGTACTC	0.607000													28	57					4.59853e-10	6.10758e-10	0.005443	1	0
GPATCH1	55094	broad.mit.edu	37	19	33588796	33588796	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:33588796A>G	ENST00000170564.2	+	8	1302	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	330						catalytic step 2 spliceosome	nucleic acid binding	p.K330E(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAGGCAGTATAAAAACCAGAA	0.507000													34	126					0	0	0.007835	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178770885	178770885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:178770885C>T	ENST00000251582.7	-	2	518	c.417G>A	c.(415-417)tgG>tgA	p.W139*	ADAMTS2_ENST00000274609.5_Nonsense_Mutation_p.W139*	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	139					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W139*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCTCGCCCTGCCACTCCATAG	0.687000													3	14					0	0	0.004672	0	0
FMNL1	752	broad.mit.edu	37	17	43320574	43320574	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:43320574C>A	ENST00000331495.3	+	17	2436	c.2100C>A	c.(2098-2100)gcC>gcA	p.A700A	FMNL1_ENST00000587489.1_Silent_p.A278A|FMNL1_ENST00000328118.3_Silent_p.A700A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	700	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.A700A(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTAAGGCAGCCCAGAAGGCCC	0.597000													57	149					6.09941e-20	9.9012e-20	0.003610	1	0
BSN	8927	broad.mit.edu	37	3	49691797	49691797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:49691797C>T	ENST00000296452.4	+	5	4922	c.4808C>T	c.(4807-4809)tCt>tTt	p.S1603F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1603					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.S1603F(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGAGTGTGTCTCAGCTGCCC	0.642000													13	30					0	0	0.002450	0	0
CRB1	23418	broad.mit.edu	37	1	197390141	197390141	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:197390141G>A	ENST00000367400.3	+	6	1318	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.E326K|CRB1_ENST00000367399.2_Missense_Mutation_p.E283K|CRB1_ENST00000543483.1_Missense_Mutation_p.E94K|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.E395K|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	395	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E395K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCCACTGCGAAGAAGACGT	0.343000													39	182					0	0	0.006999	0	0
DPP6	1804	broad.mit.edu	37	7	153584797	153584797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:153584797C>T	ENST00000404039.1	+	1	616	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A10V(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCAAGACCGCTAAGATGCAG	0.577000													13	68					0	0	0.001855	0	0
APOB	338	broad.mit.edu	37	2	21228213	21228213	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:21228213C>A	ENST00000233242.1	-	26	11654	c.11527G>T	c.(11527-11529)Gta>Tta	p.V3843L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3843					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	p.V3843L(1)		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)	TTGTTGGCTACTGCATTTAGA	0.453000													4	156					0.00909568	0.00967729	0.009096	1	0
PTPRN2	5799	broad.mit.edu	37	7	157997861	157997861	+	Splice_Site	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:157997861A>C	ENST00000389413.3	-	4	484		c.e4+1		PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000389418.4_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCACACTTACCTGGCTGGG	0.488000													18	62					0	0	0.002445	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081590	143081590	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:143081590G>A	ENST00000367603.2	-	9	6577	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S	HIVEP2_ENST00000367604.1_Silent_p.S1945S|HIVEP2_ENST00000012134.2_Silent_p.S1945S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1945S(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCACAGGCAAGGAGGAGAATC	0.463000													8	58					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9063110	9063110	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9063110C>G	ENST00000397910.4	-	3	24539	c.24336G>C	c.(24334-24336)caG>caC	p.Q8112H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8114	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q8112H(2)|p.Q3745H(1)		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						TTGGTTCTGTCTGAATTCTGC	0.498000													4	172					0	0	0.009096	0	0
FLNA	2316	broad.mit.edu	37	X	153588257	153588257	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:153588257G>C	ENST00000422373.1	-	23	4070	c.3822C>G	c.(3820-3822)gcC>gcG	p.A1274A	FLNA_ENST00000369850.3_Silent_p.A1274A|FLNA_ENST00000344736.4_Silent_p.A1274A|FLNA_ENST00000360319.4_Silent_p.A1274A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1274					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A1274A(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGTGGTGGCCTCACGGA	0.657000													41	62					0	0	0.003610	0	0
EPHX1	2052	broad.mit.edu	37	1	226016497	226016497	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:226016497A>C	ENST00000366837.4	+	2	263	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q	EPHX1_ENST00000272167.5_Missense_Mutation_p.K23Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	23					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.K23Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCGGGACAAAGAGGAAAC	0.562000													25	33					0	0	0.003954	0	0
SYT11	23208	broad.mit.edu	37	1	155851156	155851156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:155851156G>A	ENST00000368324.4	+	4	1406	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	SYT11_ENST00000539162.1_Missense_Mutation_p.D78N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	385	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D385N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TATCGACTTCGATCGCACCAC	0.542000													55	1019					0	0	0.003610	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567728	99567728	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:99567728G>C	ENST00000331335.5	-	5	3262	c.2792C>G	c.(2791-2793)aCg>aGg	p.T931R	FILIP1L_ENST00000471562.1_Missense_Mutation_p.T691R|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T931R|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T691R|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T507R|CMSS1_ENST00000496116.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	931						cytoplasm|membrane|myosin complex|nucleus		p.T931R(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGCAGTACTCGTGTAAGAGTG	0.473000													85	275					0	0	0.003610	0	0
NBPF1	55672	broad.mit.edu	37	1	16892902	16892902	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:16892902C>A	ENST00000430580.2	-	26	3779		c.e26+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 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)		CTCAAAGTTACCTGGGGCATG	0.413000													12	827					3.07112e-06	3.6284e-06	0.000978	1	0
MMP17	4326	broad.mit.edu	37	12	132335487	132335487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:132335487C>T	ENST00000360564.1	+	10	1582	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	MMP17_ENST00000535291.1_Missense_Mutation_p.R410C|MMP17_ENST00000535004.1_Missense_Mutation_p.R34C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	494	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R494C(2)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTACTTCTTCCGTGGCCAGGA	0.657000													11	33					0	0	0.001855	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090337	238090337	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:238090337C>G	ENST00000450451.1	+	0	1843					NR_027247.2																						CCTGAAGTACCCCATTGAGCA	0.607000													21	28					0	0	0.010504	0	0
NUDT16	131870	broad.mit.edu	37	3	131101022	131101022	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:131101022G>A	ENST00000359850.3	+	2	311	c.172G>A	c.(172-174)Gag>Aag	p.E58K	NUDT16_ENST00000521288.1_Missense_Mutation_p.E91K|NUDT16_ENST00000502852.1_Missense_Mutation_p.E91K|NUDT16_ENST00000537561.1_Missense_Mutation_p.E45K	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	91	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	p.E58K(2)		large_intestine(1)|lung(6)	7						TTTCCGCGTGGAGCGCACTGA	0.672000													9	27					0	0	0.001882	0	0
NCF1B	654816	broad.mit.edu	37	7	72645953	72645953	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:72645953G>A	ENST00000423083.1	+	0	988					NR_003186.1																						GACGGCTGGTGGGTCATCAGG	0.612000													33	18					0	0	0.003610	0	0
FER	2241	broad.mit.edu	37	5	108281839	108281839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:108281839G>T	ENST00000281092.4	+	11	1629	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	FER_ENST00000536402.1_Missense_Mutation_p.R311M|FER_ENST00000438717.2_Missense_Mutation_p.K240N	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	415					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.K415N(2)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGGAAAGAAAGGAGAGGCTAT	0.373000													20	17					2.4624e-09	3.22047e-09	0.008871	1	0
DMP1	1758	broad.mit.edu	37	4	88583970	88583970	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:88583970C>G	ENST00000339673.6	+	6	1139	c.1040C>G	c.(1039-1041)tCa>tGa	p.S347*	RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Nonsense_Mutation_p.S331*|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	347					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.S347*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GCCAACCTGTCATCTCAAGAG	0.522000													5	219					0	0	0.000602	0	0
MED12L	116931	broad.mit.edu	37	3	151101922	151101922	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:151101922G>A	ENST00000474524.1	+	33	4775	c.4737G>A	c.(4735-4737)acG>acA	p.T1579T	MED12L_ENST00000273432.4_Silent_p.T1439T|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1579					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.T1579T(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAATGGAACGTTAGCCTCTG	0.353000													4	57					0	0	0.009096	0	0
ZNF23	7571	broad.mit.edu	37	16	71482343	71482343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71482343C>A	ENST00000393539.2	-	6	2398	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	ZNF23_ENST00000357254.4_Nonsense_Mutation_p.E529*|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.E529*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.E471*|ZNF23_ENST00000564528.1_Nonsense_Mutation_p.E471*|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E529*(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAAGGTTTCTCCCCAGTATGT	0.418000													31	56					1.13719e-10	1.54112e-10	0.008361	1	0
GAREM	64762	broad.mit.edu	37	18	29867330	29867330	+	Silent	SNP	C	C	A	rs146498252		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:29867330C>A	ENST00000399218.4	-	4	1285	c.1230G>T	c.(1228-1230)ggG>ggT	p.G410G	GAREM_ENST00000269209.6_Silent_p.G410G	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.G410G(2)									CCCAATCTCCCCCCAGGTCCC	0.537000													27	102					7.92952e-12	1.1046e-11	0.003954	1	0
LAMA1	284217	broad.mit.edu	37	18	7015801	7015801	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:7015801A>T	ENST00000389658.3	-	22	3139	c.3046T>A	c.(3046-3048)Tgc>Agc	p.C1016S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1016	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.C1016S(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGGGGGGCAGACACACTCT	0.552000													36	126					0	0	0.005524	0	0
NUTM1	256646	broad.mit.edu	37	15	34640257	34640257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:34640257C>A	ENST00000537011.1	+	3	570	c.188C>A	c.(187-189)tCt>tAt	p.S63Y	NUTM1_ENST00000438749.3_Missense_Mutation_p.S53Y|NUTM1_ENST00000333756.4_Missense_Mutation_p.S35Y					NUT midline carcinoma, family member 1									p.S35Y(2)									CCACCAACTTCTGACCCACCA	0.572000													54	136					9.22156e-22	1.5175e-21	0.003610	1	0
LRRC32	2615	broad.mit.edu	37	11	76371973	76371973	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:76371973C>A	ENST00000407242.2	-	3	906	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.V222L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.V222L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	222						integral to plasma membrane		p.V222L(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGTCTAGCACCCGCAGCTGC	0.622000													28	60					3.62531e-18	5.79082e-18	0.004289	1	0
DOCK2	1794	broad.mit.edu	37	5	169494661	169494661	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169494661G>T	ENST00000256935.8	+	45	4695	c.4615G>T	c.(4615-4617)Gtc>Ttc	p.V1539F	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.V1031F|DOCK2_ENST00000540750.1_Missense_Mutation_p.V600F	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1539	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.V1539F(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACCCTGCTGTCATGGGAGG	0.547000													19	174					1.87028e-06	2.2406e-06	0.001882	1	0
STXBP5L	9515	broad.mit.edu	37	3	120973837	120973837	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:120973837G>T	ENST00000273666.6	+	16	1808	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	STXBP5L_ENST00000492541.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D513Y	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	513					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.D513Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTAGAGGAAGACCCATTTGC	0.363000													13	35					1.5842e-08	2.03198e-08	0.001855	1	0
DOPEY2	9980	broad.mit.edu	37	21	37664514	37664514	+	Missense_Mutation	SNP	C	C	G	rs34428315		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr21:37664514C>G	ENST00000399151.3	+	36	6713	c.6628C>G	c.(6628-6630)Cta>Gta	p.L2210V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2210					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.L2210V(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTAGAACTTCTAAAATTAAA	0.428000													22	51					0	0	0.010504	0	0
PTBP2	58155	broad.mit.edu	37	1	97278637	97278637	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:97278637A>T	ENST00000236228.6	+	13	1523	c.1441A>T	c.(1441-1443)Act>Tct	p.T481S	PTBP2_ENST00000394184.3_Missense_Mutation_p.T497S|PTBP2_ENST00000370197.1_Missense_Mutation_p.T486S|PTBP2_ENST00000370198.1_Missense_Mutation_p.T486S|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000426398.2_Missense_Mutation_p.T481S|PTBP2_ENST00000541987.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	481	RRM 4.						nucleotide binding	p.T481S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CACTGGGGGCACTGTGAAAGC	0.333000													19	58					0	0	0.010504	0	0
LRRC49	54839	broad.mit.edu	37	15	71305143	71305143	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:71305143G>C	ENST00000260382.5	+	14	1854	c.1593_splice	c.e14-1	p.V532_splice	LRRC49_ENST00000560369.1_Splice_Site_p.V537_splice|LRRC49_ENST00000560691.1_Splice_Site_p.V238_splice|LRRC49_ENST00000443425.2_Splice_Site_p.V488_splice|LRRC49_ENST00000560158.2_Splice_Site_p.V220_splice|LRRC49_ENST00000544974.2_Splice_Site_p.V522_splice|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	532						cytoplasm|microtubule		p.V532L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCTCTTCAGGTGACACAGAA	0.373000													10	26					0	0	0.008291	0	0
ALPK1	80216	broad.mit.edu	37	4	113350384	113350384	+	Missense_Mutation	SNP	C	C	T	rs34120296		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:113350384C>T	ENST00000458497.1	+	10	1154	c.875C>T	c.(874-876)aCg>aTg	p.T292M	ALPK1_ENST00000177648.9_Missense_Mutation_p.T292M|ALPK1_ENST00000504176.2_Missense_Mutation_p.T214M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	292			T -> M (in dbSNP:rs34120296).				ATP binding|protein serine/threonine kinase activity	p.T292M(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGTGCCTATACGCCGCTCTTC	0.557000													42	110					0	0	0.003610	0	0
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:116430678C>T	ENST00000395715.3	-	6	3280	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	TRPS1_ENST00000220888.5_Silent_p.R888R|TRPS1_ENST00000520276.1_Silent_p.R892R|TRPS1_ENST00000519076.1_Silent_p.R642R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888			T -> P (in TRPS3; severe).		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCCTCTACGCCTCTGAAACA	0.473000									Langer-Giedion syndrome				24	82					0	0	0.003954	0	0
HDAC5	10014	broad.mit.edu	37	17	42168703	42168703	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:42168703T>A	ENST00000225983.6	-	11	1648	c.1325A>T	c.(1324-1326)cAt>cTt	p.H442L	HDAC5_ENST00000393622.2_Missense_Mutation_p.H441L|HDAC5_ENST00000586802.1_Missense_Mutation_p.H441L|HDAC5_ENST00000336057.5_Missense_Mutation_p.H441L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	441					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.H441L(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CAGGGAGGCATGCCCGTGGGG	0.662000													6	23					0	0	0.003080	0	0
GPX7	2882	broad.mit.edu	37	1	53073948	53073948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:53073948G>A	ENST00000361314.4	+	3	453	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	139					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.E139K(2)		breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	TTCTGGGAAGGAGCCCACCTG	0.552000													42	107					0	0	0.002522	0	0
NMS	129521	broad.mit.edu	37	2	101093867	101093867	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:101093867T>A	ENST00000376865.1	+	5	259	c.252T>A	c.(250-252)gtT>gtA	p.V84V		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	84					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.V84V(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CACATCCAGTTAAAACTGGGG	0.368000													13	32					0	0	0.001855	0	0
AGAP11	119385	broad.mit.edu	37	10	88769369	88769369	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:88769369C>G	ENST00000444431.1	+	0	3969				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCTGGGCCAGCACCTGCTGCG	0.607000													43	126					0	0	0.002522	0	0
KNTC1	9735	broad.mit.edu	37	12	123041966	123041966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:123041966G>T	ENST00000333479.7	+	17	1485	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E399D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	436					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.E436D(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATATTGGAGAAACTGGCAT	0.383000													16	36					2.31682e-05	2.6688e-05	0.003163	1	0
COL3A1	1281	broad.mit.edu	37	2	189875383	189875383	+	Missense_Mutation	SNP	G	G	T	rs140646380	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:189875383G>T	ENST00000304636.3	+	50	4191	c.4021G>T	c.(4021-4023)Ggc>Tgc	p.G1341C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1038C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1341	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G1341C(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTTTAGCTACGGCAATCCTGA	0.408000													37	60					1.15505e-17	1.83035e-17	0.009718	1	0
GIT1	28964	broad.mit.edu	37	17	27910597	27910597	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:27910597C>A	ENST00000225394.3	-	2	338	c.90G>T	c.(88-90)gtG>gtT	p.V30V	GIT1_ENST00000394869.3_Silent_p.V30V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Silent_p.V30V|GIT1_ENST00000581348.1_Silent_p.V30V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	30	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	p.V30V(4)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ACTCGTCACACACCAGCACAC	0.657000													7	17					8.12818e-05	9.13468e-05	0.001984	1	0
CHD6	84181	broad.mit.edu	37	20	40042045	40042045	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:40042045C>T	ENST00000373233.3	-	35	7227	c.7050G>A	c.(7048-7050)gaG>gaA	p.E2350E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2350					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.E2350E(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAATGGATTTCTCGGCTTGGC	0.592000													6	35					0	0	0.003080	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396022	1396022	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:1396022G>T	ENST00000324385.5	+	24	2507	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	BAIAP3_ENST00000562208.1_Silent_p.L725L|BAIAP3_ENST00000426824.3_Silent_p.L748L|BAIAP3_ENST00000568887.1_Silent_p.L720L|BAIAP3_ENST00000397488.2_Silent_p.L765L|BAIAP3_ENST00000397489.1_Silent_p.L765L|BAIAP3_ENST00000421665.2_Silent_p.L712L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	783	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.L783L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ATACGGAGCTGCTTCGGAAGA	0.682000													7	33					0.000157383	0.000175554	0.003080	1	0
HIPK2	28996	broad.mit.edu	37	7	139285223	139285223	+	Missense_Mutation	SNP	C	C	A	rs56132157		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:139285223C>A	ENST00000406875.3	-	11	2469	c.2375G>T	c.(2374-2376)cGg>cTg	p.R792L	HIPK2_ENST00000428878.2_Missense_Mutation_p.R765L|HIPK2_ENST00000342645.6_Missense_Mutation_p.R792L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	792	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		R -> Q.		apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R792L(4)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGCTGCTGCCGCATCACGTG	0.567000													22	75					1.10923e-09	1.46998e-09	0.002780	1	0
KDR	3791	broad.mit.edu	37	4	55961743	55961743	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:55961743C>A	ENST00000263923.4	-	20	3113		c.e20+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGACATACCTTGTAGGGG	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			10	49					3.27435e-08	4.17306e-08	0.002450	1	0
TENM1	10178	broad.mit.edu	37	X	124097430	124097430	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:124097430T>G	ENST00000422452.2	-	1	236	c.173A>C	c.(172-174)aAt>aCt	p.N58T	TENM1_ENST00000371130.3_Missense_Mutation_p.N58T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.N58T(2)									ACTCTGGCTATTGTAATTCAT	0.368000													109	164					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54304481	54304481	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54304481C>A	ENST00000324134.6	-	7	2924	c.2756_splice	c.e7+1	p.R919_splice	NLRP12_ENST00000535162.1_Splice_Site_p.R919_splice|NLRP12_ENST00000391773.1_Splice_Site_p.R920_splice|NLRP12_ENST00000391775.3_Splice_Site_p.R919_splice|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Splice_Site_p.R920_splice	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	919					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R919L(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGGACTCACCGCAGGGTCTG	0.617000													22	50					3.5997e-14	5.324e-14	0.002299	1	0
FHL5	9457	broad.mit.edu	37	6	97052766	97052766	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:97052766C>T	ENST00000326771.2	+	4	680	c.300C>T	c.(298-300)tcC>tcT	p.S100S	FHL5_ENST00000541107.1_Silent_p.S100S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	100	LIM zinc-binding 1.					nucleus	zinc ion binding	p.S100S(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGTGCTCCTCCAAGTGCTTCC	0.512000													13	33					0	0	0.001368	0	0
STXBP5	134957	broad.mit.edu	37	6	147680270	147680270	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:147680270A>C	ENST00000367481.3	+	21	2356	c.2248A>C	c.(2248-2250)Att>Ctt	p.I750L	STXBP5_ENST00000321680.6_Missense_Mutation_p.I786L|STXBP5_ENST00000179882.6_Missense_Mutation_p.I441L|STXBP5_ENST00000367480.3_Missense_Mutation_p.I733L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	786					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.I786L(2)|p.I750L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTAACAAGCATTGACAAAGA	0.418000													13	41					0	0	0.001855	0	0
NUF2	83540	broad.mit.edu	37	1	163317609	163317609	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:163317609G>C	ENST00000271452.3	+	12	1284	c.1005G>C	c.(1003-1005)aaG>aaC	p.K335N	NUF2_ENST00000367900.3_Missense_Mutation_p.K335N|NUF2_ENST00000524800.1_Missense_Mutation_p.K288N	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	335	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.K335N(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGAAATTGAAGACTGAAGAAA	0.333000													6	47					0	0	0.001984	0	0
MTUS2	23281	broad.mit.edu	37	13	30066847	30066847	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:30066847G>C	ENST00000431530.3	+	10	3658	c.3600G>C	c.(3598-3600)ctG>ctC	p.L1200L	MTUS2_ENST00000380808.2_Silent_p.L169L|MTUS2_ENST00000542829.1_Silent_p.L79L	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1190						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.L1200L(2)|p.L169L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGCGGCTGTCATTGCAGG	0.363000													14	48					0	0	0.003163	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303330	153303330	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:153303330C>A	ENST00000368739.3	-	9	1381	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L	PGLYRP4_ENST00000359650.5_Silent_p.L345L			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	345					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	p.L345L(2)		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)			TGTGGCCCACCAGCAGGTAGT	0.552000													63	152					2.50483e-33	4.46545e-33	0.003610	1	0
ELK3	2004	broad.mit.edu	37	12	96653534	96653534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:96653534C>T	ENST00000228741.3	+	4	1354	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	ELK3_ENST00000552142.1_Missense_Mutation_p.P78L|ELK3_ENST00000549529.1_3'UTR	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	343					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P343L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTTCTGACTCCGAGTCCACTG	0.527000													8	147					0	0	0.004482	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369202	20369202	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:20369202G>T	ENST00000593655.1	-	0	199																											TGAAATCAAGGATCTTATGGT	0.388000													51	124					7.05377e-20	1.14195e-19	0.003610	1	0
DLGAP2	9228	broad.mit.edu	37	8	1581027	1581027	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:1581027C>A	ENST00000421627.2	+	5	1519	c.1385C>A	c.(1384-1386)tCc>tAc	p.S462Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	541					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S506Y(2)|p.S484Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAATTCGAGTCCGTGTGCGAG	0.567000													11	26					2.80697e-09	3.66313e-09	0.000978	1	0
TCHH	7062	broad.mit.edu	37	1	152082789	152082789	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152082789C>G	ENST00000368804.1	-	2	2903	c.2904G>C	c.(2902-2904)caG>caC	p.Q968H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	968	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.Q968H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcttccttctgctgcagct	0.567000													34	977					0	0	0.008361	0	0
RYR1	6261	broad.mit.edu	37	19	38939385	38939385	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:38939385T>G	ENST00000355481.4	+	11	1185	c.1054T>G	c.(1054-1056)Tca>Gca	p.S352A	RYR1_ENST00000359596.3_Missense_Mutation_p.S352A|RYR1_ENST00000360985.3_Missense_Mutation_p.S352A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	352	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S352A(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCATGTGGCCTCAGGACTGTG	0.617000													28	84					0	0	0.008361	0	0
FUT1	2523	broad.mit.edu	37	19	49253722	49253722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:49253722C>A	ENST00000310160.3	-	4	1791	c.817G>T	c.(817-819)Gac>Tac	p.D273Y		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	273					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	p.D273Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGGAGGTGTCGATGTTTTCT	0.587000													54	126					4.25531e-23	7.11992e-23	0.003610	1	0
SPAG17	200162	broad.mit.edu	37	1	118539080	118539080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:118539080G>A	ENST00000336338.5	-	34	5031	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1656						cilium|flagellar axoneme|microtubule		p.R1656*(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACTGTCTCGAAGAAGTTCC	0.358000													8	43					0	0	0.004482	0	0
RTN1	6252	broad.mit.edu	37	14	60072161	60072161	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:60072161C>A	ENST00000267484.5	-	5	2372	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	RTN1_ENST00000557422.1_Intron|RTN1_ENST00000395090.1_Silent_p.L96L|RTN1_ENST00000342503.4_Silent_p.L111L	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	679	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.L679L(2)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGTAGAACTGCAGGCAGTCCG	0.473000													29	77					7.01153e-11	9.58883e-11	0.007291	1	0
MORC1	27136	broad.mit.edu	37	3	108819263	108819263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:108819263C>G	ENST00000232603.5	-	5	397		c.e5+1		MORC1_ENST00000483760.1_Splice_Site	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.?(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAAATTCTCACCTTTTAAGAC	0.353000													5	175					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179398197	179398197	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179398197A>G	ENST00000589042.1	-	358	103369	c.103145T>C	c.(103144-103146)tTt>tCt	p.F34382S	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F32741S|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F25317S|TTN_ENST00000342175.6_Missense_Mutation_p.F25509S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F31814S|TTN_ENST00000359218.5_Missense_Mutation_p.F25442S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32741							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F25317S(2)|p.F25509S(2)|p.F31814S(2)|p.F31812S(2)|p.F25442S(2)		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)			TCTGATCTCAAAGCAGACACT	0.473000													19	35					0	0	0.008871	0	0
APBA1	320	broad.mit.edu	37	9	72082745	72082745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:72082745C>A	ENST00000265381.4	-	5	1698	c.1476G>T	c.(1474-1476)agG>agT	p.R492S	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTTGATCCTGCTTACGG	0.527000													15	141					4.72057e-08	5.96545e-08	0.003954	1	0
MAGI2	9863	broad.mit.edu	37	7	77789402	77789402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:77789402C>T	ENST00000354212.4	-	16	3038	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E915K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E929K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	929	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding	p.E929K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCGAAGCCCTCATTCTCTTTG	0.532000													7	139					0	0	0.003080	0	0
AS3MT	57412	broad.mit.edu	37	10	104638636	104638636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:104638636G>C	ENST00000369880.3	+	9	850	c.773G>C	c.(772-774)cGc>cCc	p.R258P	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	258					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	p.R258P(2)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCAACATTTCGCCTCTTCAAA	0.413000													25	95					0	0	0.003330	0	0
F5	2153	broad.mit.edu	37	1	169519136	169519136	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:169519136T>A	ENST00000367796.3	-	10	1715	c.1514A>T	c.(1513-1515)tAc>tTc	p.Y505F	F5_ENST00000367797.3_Missense_Mutation_p.Y505F|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	505	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Y505F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCACTGTAGTATGGTCTTGT	0.443000													29	136					0	0	0.007291	0	0
CA11	770	broad.mit.edu	37	19	49142169	49142169	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:49142169G>T	ENST00000084798.4	-	8	1616	c.937C>A	c.(937-939)Cga>Aga	p.R313R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	313						extracellular region		p.R313R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TTGGGGCCTCGGCAGCGCCTC	0.637000													8	18					0.000157383	0.000175554	0.003080	1	0
SIGLECL1	284369	broad.mit.edu	37	19	51768891	51768891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51768891C>A	ENST00000316401.7	+	3	673	c.292C>A	c.(292-294)Cta>Ata	p.L98I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.L98I(2)									TTTGAGCATCCTACTGATGTC	0.537000													31	141					5.60225e-13	8.0667e-13	0.009535	1	0
OVCH2	341277	broad.mit.edu	37	11	7716867	7716867	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:7716867C>A	ENST00000454689.1	-	0	1215				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)									p.D406Y(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCTGTGGCATCAGAGACGAAT	0.448000													11	48					0.00829132	0.00883719	0.008291	1	0
C20orf194	25943	broad.mit.edu	37	20	3234371	3234371	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3234371C>A	ENST00000252032.9	-	36	3489		c.e36+1		C20orf194_ENST00000453730.2_Splice_Site	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194									p.?(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCAAGGATACGTGGGTGAAA	0.507000													35	96					3.62531e-18	5.79082e-18	0.004289	1	0
MON2	23041	broad.mit.edu	37	12	62929426	62929426	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:62929426C>T	ENST00000393630.3	+	14	2228	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	MON2_ENST00000280379.6_Silent_p.L613L|MON2_ENST00000552738.1_Intron|MON2_ENST00000546600.1_Silent_p.L613L|MON2_ENST00000393632.2_Silent_p.L613L|MON2_ENST00000552115.1_Silent_p.L613L|MON2_ENST00000393629.2_Silent_p.L613L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	613					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.L613L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAAGGTTCCCTGCCTCCCCA	0.408000													27	70					0	0	0.003954	0	0
TCF12	6938	broad.mit.edu	37	15	57212142	57212142	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:57212142A>T	ENST00000267811.5	+	2	335	c.31A>T	c.(31-33)Ata>Tta	p.I11L	TCF12_ENST00000333725.5_Missense_Mutation_p.I11L|TCF12_ENST00000557843.1_Missense_Mutation_p.I11L|TCF12_ENST00000438423.2_Missense_Mutation_p.I11L|TCF12_ENST00000452095.2_Missense_Mutation_p.I11L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	11					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	p.I11L(6)	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)		CATGGCCGCTATAGGGACCGA	0.547000			T	TEC	extraskeletal myxoid chondrosarcoma								21	56					0	0	0.010504	0	0
DOCK1	1793	broad.mit.edu	37	10	128830475	128830475	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:128830475G>C	ENST00000280333.6	+	18	1849	c.1740G>C	c.(1738-1740)aaG>aaC	p.K580N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	580	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.K580N(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGGAAGAAAAGGGCCACTCGG	0.557000													3	9					0	0	0.004672	0	0
TARS2	80222	broad.mit.edu	37	1	150470105	150470105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:150470105G>A	ENST00000369064.3	+	10	1154	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.D292N|TARS2_ENST00000369054.2_Missense_Mutation_p.D244N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	374					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.D374N(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTATCAGGAAGACATGTTTGC	0.547000													11	121					0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13820609	13820609	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:13820609C>A	ENST00000265104.4	-	41	6792		c.e41-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		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)					CTTCTTCAACCTGAAAACATA	0.507000									Kartagener syndrome				27	85					1.7881e-09	2.34884e-09	0.008361	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762209	130762209	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:130762209G>T	ENST00000392429.1	+	2	3020	c.642G>T	c.(640-642)tcG>tcT	p.S214S	TMEM200A_ENST00000296978.3_Silent_p.S214S|TMEM200A_ENST00000545622.1_Silent_p.S214S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	214						integral to membrane		p.S214S(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTCTTTCTCGGGTTTTCGGA	0.478000													14	34					6.31663e-08	7.94886e-08	0.003163	1	0
ELSPBP1	64100	broad.mit.edu	37	19	48519237	48519237	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:48519237G>T	ENST00000339841.2	+	4	474	c.296G>T	c.(295-297)tGg>tTg	p.W99L	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	99	Fibronectin type-II 2.				single fertilization	extracellular region		p.W99L(2)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGCAGTCTGTGGTGCTCAGTC	0.507000													31	91					1.62565e-12	2.29661e-12	0.002445	1	0
GALR1	2587	broad.mit.edu	37	18	74963084	74963084	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74963084C>A	ENST00000299727.3	+	1	580	c.580C>A	c.(580-582)Cct>Act	p.P194T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTGGCCCGACCCTCGCCACAA	0.662000													27	115					6.00712e-18	9.54447e-18	0.002445	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45711253	45711253	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:45711253C>A	ENST00000310806.4	-	4	1585	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	376					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.G376V(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTTTAAGTCCATTTGTAAC	0.318000													23	69					4.16121e-05	4.72077e-05	0.002780	1	0
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	G	T	rs35379048	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:7585490G>T	ENST00000379802.3	+	24	8336	c.7995G>T	c.(7993-7995)acG>acT	p.T2665T	DSP_ENST00000418664.2_Silent_p.T2066T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2665	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.T2665T(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCCAACCACGGGCCAGAAGC	0.577000													77	102					2.40943e-26	4.15922e-26	0.003610	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72165754	72165754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:72165754C>T	ENST00000555818.1	+	11	3779	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1144F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1144F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S619F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1144					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1144F(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTAGCAAGATCCCAGTGTCGG	0.488000													44	129					0	0	0.008740	0	0
USP29	57663	broad.mit.edu	37	19	57641790	57641790	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57641790C>A	ENST00000254181.4	+	4	2201	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	USP29_ENST00000598197.1_Missense_Mutation_p.L583M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	583					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L583M(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCAATGAAGCTGACCTCAGA	0.483000													41	91					2.45108e-15	3.72639e-15	0.008740	1	0
OR10W1	81341	broad.mit.edu	37	11	58034677	58034677	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:58034677C>G	ENST00000395079.2	-	1	1055	c.654G>C	c.(652-654)aaG>aaC	p.K218N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K218N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572000													13	27					0	0	0.003163	0	0
UNK	85451	broad.mit.edu	37	17	73780814	73780814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:73780814C>A	ENST00000293218.3	+	2	81	c.81C>A	c.(79-81)gaC>gaA	p.D27E	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27E(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGCCGGACATAGAACCAC	0.642000													5	41					3.59834e-05	4.11337e-05	0.001168	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111590	142111590	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142111590G>T	ENST00000390378.1	-	0	145																											GGACACACTGGTGTGCCCAGA	0.527000													83	65					3.56499e-28	6.17176e-28	0.003610	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128842434	128842434	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:128842434G>A	ENST00000310343.9	-	21	3924	c.3925C>T	c.(3925-3927)Ccg>Tcg	p.P1309S	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P960S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P960S|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1309	Poly-Pro.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.P1309S(2)|p.P960S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGGAAGGCGGAGGGGGAAGG	0.537000													35	80					0	0	0.004289	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:77766283G>C	ENST00000521891.2	+	10	7574	c.7126G>C	c.(7126-7128)Gct>Cct	p.A2376P	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2331P|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2331P|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2350P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2331	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A2360P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAACGCTGCTGCCCC	0.512000										HNSCC(33;0.089)			46	117					0	0	0.003610	0	0
SDK2	54549	broad.mit.edu	37	17	71397871	71397871	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:71397871G>A	ENST00000392650.3	-	20	2701	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	SDK2_ENST00000388726.3_Silent_p.L901L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	901	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.L901L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGAAGCTCAGGTGTCCCACG	0.577000													5	5					0	0	0.000602	0	0
OR51F2	119694	broad.mit.edu	37	11	4842710	4842710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:4842710C>A	ENST00000322110.5	+	1	160	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P32Q(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCATTCCAGGCCTGAAA	0.473000													69	183					1.42676e-28	2.48439e-28	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179629388	179629388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179629388C>A	ENST00000589042.1	-	42	10078	c.9854G>T	c.(9853-9855)tGc>tTc	p.C3285F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.C3285F|TTN_ENST00000591111.1_Missense_Mutation_p.C3285F|TTN_ENST00000460472.2_Missense_Mutation_p.C3239F|TTN_ENST00000342175.6_Missense_Mutation_p.C3239F|TTN_ENST00000342992.6_Missense_Mutation_p.C3285F|TTN_ENST00000359218.5_Missense_Mutation_p.C3239F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3014	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C3285F(6)|p.C3239F(6)		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)			AAGAAATTTGCACTTGAAGCC	0.493000													62	103					2.89935e-36	5.24687e-36	0.003610	1	0
TKTL2	84076	broad.mit.edu	37	4	164394019	164394019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:164394019G>T	ENST00000280605.3	-	1	1028	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm	metal ion binding|transketolase activity	p.P290T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCGATTTTGGTATGAGATTC	0.408000													114	403					1.66084e-67	3.15823e-67	0.003610	1	0
GPR25	2848	broad.mit.edu	37	1	200842857	200842857	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:200842857G>A	ENST00000304244.2	+	1	775	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	231						integral to plasma membrane		p.R231Q(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGCCTGCGACGGCCGCCGCAC	0.687000													4	92					0	0	0.000602	0	0
FRAS1	80144	broad.mit.edu	37	4	79402985	79402985	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:79402985A>G	ENST00000264895.6	+	57	8911	c.8471A>G	c.(8470-8472)cAt>cGt	p.H2824R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2819	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.H2824R(2)|p.H2825R(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTATCCGCCATGGTACTGAC	0.478000													163	254					0	0	0.003610	0	0
GRK5	2869	broad.mit.edu	37	10	121140407	121140407	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:121140407C>A	ENST00000392870.2	+	3	558	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	77	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.L77M(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGGCCTGGGCTGGAGTGTTA	0.498000													45	128					7.88023e-25	1.34098e-24	0.003610	1	0
C15orf26	161502	broad.mit.edu	37	15	81436103	81436103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:81436103G>T	ENST00000286732.4	+	5	661	c.578G>T	c.(577-579)tGg>tTg	p.W193L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	193								p.W193L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAACTGCTGGCAGGCTGCC	0.537000													82	194					1.7488e-33	3.12695e-33	0.003610	1	0
MYO15A	51168	broad.mit.edu	37	17	18023924	18023924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:18023924G>A	ENST00000205890.5	+	2	2148	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	604	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E604K(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGTCAGGGAGGCGGCCTA	0.697000													4	4					0	0	0.001168	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008704	88008704	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:88008704C>G	ENST00000276127.4	+	3	548	c.289C>G	c.(289-291)Ccc>Gcc	p.P97A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P97A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	97						intracellular	zinc ion binding	p.P97A(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GACCCCCATTCCCAGAAAATT	0.413000													8	13					0	0	0.003080	0	0
SENP2	59343	broad.mit.edu	37	3	185341817	185341817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:185341817A>T	ENST00000296257.5	+	15	1798	c.1558A>T	c.(1558-1560)Aga>Tga	p.R520*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.R510*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.R344*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	520	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	p.R520*(2)|p.K520*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAAGACCAAAAGAAATAGTGA	0.343000													39	116					0	0	0.008740	0	0
GP5	2814	broad.mit.edu	37	3	194118069	194118069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:194118069G>A	ENST00000401815.1	-	1	1014	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	GP5_ENST00000323007.3_Missense_Mutation_p.R315C			P40197	GPV_HUMAN	glycoprotein V (platelet)	315					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.R315C(4)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCGCAGGCGGCTCAGGTTG	0.726000													6	15					0	0	0.001168	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799011	140799011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140799011G>T	ENST00000398594.2	+	1	1585	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1												p.E529*(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACCTTCGAGCTCACGCT	0.697000													53	57					1.63038e-21	2.67561e-21	0.003610	1	0
ITM2B	9445	broad.mit.edu	37	13	48835306	48835306	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:48835306C>T	ENST00000378565.5	+	6	950	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ITM2B_ENST00000378549.5_Silent_p.F143F	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	249					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.F249F(2)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GCAATTGTTTCGCAATTCGGC	0.284000													4	41					0	0	0.009096	0	0
CDHR2	54825	broad.mit.edu	37	5	176011426	176011426	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176011426T>A	ENST00000510636.1	+	19	2418	c.2144T>A	c.(2143-2145)gTg>gAg	p.V715E	CDHR2_ENST00000261944.5_Missense_Mutation_p.V715E|CDHR2_ENST00000506348.1_Missense_Mutation_p.V715E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	715	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V715E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTAGTGGGCGTGGTGAAGGCC	0.617000													32	228					0	0	0.009535	0	0
OCA2	4948	broad.mit.edu	37	15	28230275	28230275	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:28230275C>A	ENST00000354638.3	-	13	1454	c.1299G>T	c.(1297-1299)gcG>gcT	p.A433A	OCA2_ENST00000353809.5_Silent_p.A409A|OCA2_ENST00000382996.2_Silent_p.A433A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.A433A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGGACGGCCGCGATGAGAC	0.602000									Oculocutaneous Albinism				22	34					8.10497e-08	1.01566e-07	0.010504	1	0
KIF21A	55605	broad.mit.edu	37	12	39761735	39761735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:39761735C>A	ENST00000395670.3	-	4	969	c.550G>T	c.(550-552)Gga>Tga	p.G184*	KIF21A_ENST00000361418.5_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.G184*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.G184*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.G184*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	184	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G184*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTATAAATTCCTCCAGTTGAA	0.308000													21	46					7.16444e-05	8.09717e-05	0.003954	1	0
KIAA1432	57589	broad.mit.edu	37	9	5762559	5762559	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:5762559A>G	ENST00000414202.2	+	18	2202	c.2011A>G	c.(2011-2013)Att>Gtt	p.I671V	KIAA1432_ENST00000449720.2_Missense_Mutation_p.I555V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.I671V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.I592V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.I592V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	671						integral to membrane		p.I592V(2)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCAGAGAGCATTATGTTAAA	0.458000													36	103					0	0	0.004878	0	0
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247607348C>A	ENST00000366497.2	+	7	3353	c.2573C>A	c.(2572-2574)aCg>aAg	p.T858K	NLRP3_ENST00000348069.2_Missense_Mutation_p.T801K|NLRP3_ENST00000391828.3_Missense_Mutation_p.T915K|NLRP3_ENST00000336119.3_Missense_Mutation_p.T915K|NLRP3_ENST00000366496.2_Missense_Mutation_p.T858K|NLRP3_ENST00000391827.2_Missense_Mutation_p.T858K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	915					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T915K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAATCTCACGCACCTTTAC	0.512000													43	75					4.17593e-13	6.02743e-13	0.007835	1	0
GPR125	166647	broad.mit.edu	37	4	22390178	22390178	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:22390178C>A	ENST00000334304.5	-	19	3385	c.3116G>T	c.(3115-3117)aGt>aTt	p.S1039I	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1039					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.S1039I(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAAGAACGCACTGAAGCTTAA	0.463000													53	77					5.73376e-24	9.67471e-24	0.003610	1	0
TRPM3	80036	broad.mit.edu	37	9	73399169	73399169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:73399169C>A	ENST00000377110.2	-	7	1243	c.1000G>T	c.(1000-1002)Gca>Tca	p.A334S	TRPM3_ENST00000360823.2_Missense_Mutation_p.A206S|TRPM3_ENST00000377105.1_Missense_Mutation_p.A181S|TRPM3_ENST00000396283.1_Missense_Mutation_p.A206S|TRPM3_ENST00000408909.2_Missense_Mutation_p.A181S|TRPM3_ENST00000357533.2_Missense_Mutation_p.A336S|TRPM3_ENST00000396280.5_Missense_Mutation_p.A181S|TRPM3_ENST00000358082.3_Missense_Mutation_p.A206S|TRPM3_ENST00000396285.1_Missense_Mutation_p.A181S|TRPM3_ENST00000361823.5_Missense_Mutation_p.A181S|TRPM3_ENST00000396292.4_Missense_Mutation_p.A206S|TRPM3_ENST00000377101.1_Missense_Mutation_p.A181S|TRPM3_ENST00000377111.2_Missense_Mutation_p.A334S|TRPM3_ENST00000423814.3_Missense_Mutation_p.A361S|TRPM3_ENST00000377106.1_Missense_Mutation_p.A206S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	359						integral to membrane	calcium channel activity	p.A206S(2)|p.A334S(2)|p.A336S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTATGAGTGCCACCACAGGA	0.458000													10	30					0.000978159	0.00106919	0.000978	1	0
THBS4	7060	broad.mit.edu	37	5	79373964	79373964	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:79373964C>G	ENST00000350881.2	+	17	2369	c.2179C>G	c.(2179-2181)Ctg>Gtg	p.L727V	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L636V	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	727					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.L727V(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGGTCACCCTGACCGACTT	0.587000													5	51					0	0	0.000602	0	0
CTNNB1	1499	broad.mit.edu	37	3	41274850	41274850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:41274850G>T	ENST00000349496.5	+	8	1380	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.G367V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G360V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G367V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G367V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	367					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G367V(2)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAAGCTTTAGGACTTCACCTG	0.393000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				19	62					3.99206e-14	5.88976e-14	0.007413	1	0
OR8J1	219477	broad.mit.edu	37	11	56128508	56128508	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56128508C>A	ENST00000303039.3	+	1	818	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262P(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGTGCAGCCCCGAAGTAACC	0.408000													24	84					1.13719e-10	1.54112e-10	0.008361	1	0
EPCAM	4072	broad.mit.edu	37	2	47607038	47607038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:47607038G>T	ENST00000263735.4	+	7	1146	c.788G>T	c.(787-789)gGt>gTt	p.G263V	EPCAM_ENST00000405271.1_Missense_Mutation_p.G291V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	263					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.G263V(2)|p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCAATGCAGGGTCTAAAAgct	0.378000													21	64					6.33239e-15	9.5304e-15	0.010504	1	0
CSMD1	64478	broad.mit.edu	37	8	3432521	3432521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:3432521C>A	ENST00000602557.1	-	11	1848	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H	CSMD1_ENST00000537824.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000520002.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q431H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	431	CUB 3.					integral to membrane		p.Q430H(2)|p.Q159H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTTCATACTGAACCGGAT	0.517000													18	61					3.32936e-07	4.09504e-07	0.006122	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128052	3128052	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3128052T>A	ENST00000380266.3	-	2	1986	c.1665A>T	c.(1663-1665)tcA>tcT	p.S555S	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	555					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.S555S(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATTCAGGCTTTGAATTCATAT	0.458000													33	99					0	0	0.002096	0	0
MIR516B1	574490	broad.mit.edu	37	19	54240116	54240116	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54240116C>T	ENST00000385211.1	+	0	18					NR_030212.1																						CTGTGACCATCTGGAGGTAAG	0.398000													43	137					0	0	0.003610	0	0
MYO1B	4430	broad.mit.edu	37	2	192257838	192257838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:192257838G>T	ENST00000392318.3	+	20	2363	c.2116G>T	c.(2116-2118)Gac>Tac	p.D706Y	MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000339514.4_Missense_Mutation_p.D706Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D706Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.D706Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	706	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D706Y(4)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACGCCTGGAGGACTTGGCCAC	0.428000													7	70					2.0095e-06	2.40257e-06	0.001984	1	0
HTR5A	3361	broad.mit.edu	37	7	154862701	154862701	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:154862701C>G	ENST00000287907.2	+	1	668	c.92C>G	c.(91-93)cCc>cGc	p.P31R	AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	31						integral to plasma membrane	serotonin receptor activity	p.P31R(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GACCTGCGCCCCAGCTCGCCC	0.612000													32	112					0	0	0.005524	0	0
PROSER2	254427	broad.mit.edu	37	10	11908754	11908754	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:11908754G>A	ENST00000277570.5	+	3	517	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2									p.E121E(2)									GGGAAGCCGAGGGCCTTCCAG	0.622000													29	62					0	0	0.008740	0	0
PRSS1	5644	broad.mit.edu	37	7	142459828	142459828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142459828C>A	ENST00000486171.1	+	4	463	c.446C>A	c.(445-447)aCt>aAt	p.T149N	PRSS1_ENST00000311737.7_Missense_Mutation_p.T135N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	135	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T135N(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCCAGCCACTGGCACGAAG	0.557000													45	26					1.38705e-31	2.43649e-31	0.003610	1	0
PLCB1	23236	broad.mit.edu	37	20	8862495	8862495	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:8862495G>C	ENST00000338037.6	+	32	3677	c.3650G>C	c.(3649-3651)tGa>tCa	p.*1217S	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.*1217S(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTCCTCTGTGAATGCTCCTG	0.522000													17	56					0	0	0.004007	0	0
FAM198B	51313	broad.mit.edu	37	4	159052134	159052134	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:159052134C>G	ENST00000296530.8	-	4	1777	c.1156G>C	c.(1156-1158)Gga>Cga	p.G386R	FAM198B_ENST00000585682.1_Missense_Mutation_p.G386R|FAM198B_ENST00000393807.5_Missense_Mutation_p.G394R|FAM198B_ENST00000589306.1_5'UTR	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	386						Golgi membrane|integral to membrane		p.G386R(2)|p.G394R(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGTCTGAATCCACAGCAATTT	0.398000													11	52					0	0	0.001368	0	0
ZNF264	9422	broad.mit.edu	37	19	57705360	57705360	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57705360G>A	ENST00000263095.6	+	2	565	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ZNF264_ENST00000536056.1_Missense_Mutation_p.V51M|ZNF264_ENST00000599653.1_Missense_Mutation_p.V51M|ZNF264_ENST00000600531.1_Missense_Mutation_p.V51M	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V51M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGGGCTCCTGGTGTCTCTGGG	0.587000													28	99					0	0	0.006320	0	0
DCC	1630	broad.mit.edu	37	18	50923679	50923679	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:50923679C>A	ENST00000442544.2	+	18	3306	c.2688_splice	c.e18-1	p.S897_splice	DCC_ENST00000581580.1_Splice_Site_p.S532_splice|DCC_ENST00000412726.1_Splice_Site_p.S725_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	897	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S897*(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTGTATAGTCAGAAGACACA	0.328000													10	28					1.58986e-06	1.92002e-06	0.008291	1	0
TOX2	84969	broad.mit.edu	37	20	42695474	42695474	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:42695474G>T	ENST00000358131.5	+	7	1615	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	TOX2_ENST00000423191.1_Silent_p.G445G|TOX2_ENST00000435864.2_Silent_p.G365G|TOX2_ENST00000372999.1_Silent_p.G445G|TOX2_ENST00000341197.3_Silent_p.G487G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G496G(2)|p.G445G(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCAGTGGGGAGTGTGGCA	0.642000													61	145					1.48005e-37	2.68651e-37	0.003610	1	0
COL11A1	1301	broad.mit.edu	37	1	103488398	103488398	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:103488398T>C	ENST00000358392.2	-	8	1498	c.1181A>G	c.(1180-1182)gAt>gGt	p.D394G	COL11A1_ENST00000353414.4_Missense_Mutation_p.D343G|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				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	p.D382G(2)|p.D394G(2)		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)		TTCATAAAAATCATATTCGCC	0.368000													24	81					0	0	0.002780	0	0
DOCK2	1794	broad.mit.edu	37	5	169508848	169508848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169508848C>A	ENST00000256935.8	+	51	5370	c.5290C>A	c.(5290-5292)Ctg>Atg	p.L1764M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256M|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.L1764M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCAGCCCTGGCGCTCTC	0.632000													7	58					0.00185496	0.0020129	0.001855	1	0
SCNN1D	6339	broad.mit.edu	37	1	1221528	1221528	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:1221528G>A	ENST00000338555.2	+	4	1433	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	SCNN1D_ENST00000325425.8_Missense_Mutation_p.V163I|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V97I|SCNN1D_ENST00000379116.5_Missense_Mutation_p.V261I					sodium channel, non-voltage-gated 1, delta subunit									p.V261I(2)|p.V97I(2)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGAGCCCTGGTCGCGCTCTG	0.692000													9	9					0	0	0.006214	0	0
OR5M10	390167	broad.mit.edu	37	11	56344907	56344907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56344907G>T	ENST00000526812.2	-	1	356	c.291C>A	c.(289-291)tgC>tgA	p.C97*		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97*(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTGTGTGAAGCATCCAGCGT	0.443000													24	69					1.64293e-13	2.39445e-13	0.003330	1	0
USP28	57646	broad.mit.edu	37	11	113699991	113699991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:113699991A>T	ENST00000003302.4	-	10	1055	c.987T>A	c.(985-987)tgT>tgA	p.C329*	USP28_ENST00000545540.1_Nonsense_Mutation_p.C204*|USP28_ENST00000544967.1_Nonsense_Mutation_p.C37*|USP28_ENST00000260188.5_Nonsense_Mutation_p.C329*|USP28_ENST00000537706.1_Nonsense_Mutation_p.C329*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	329					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.C329*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCCTTCCAAACACTCGTCTA	0.468000													18	41					0	0	0.006122	0	0
GATM	2628	broad.mit.edu	37	15	45654417	45654417	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:45654417T>C	ENST00000396659.3	-	9	1501	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	388					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	p.I388V(2)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATGGTAGTGATACCTGCATTG	0.478000													8	19					0	0	0.003080	0	0
TNR	7143	broad.mit.edu	37	1	175365895	175365895	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:175365895A>T	ENST00000367674.1	-	5	1733	c.1025T>A	c.(1024-1026)aTt>aAt	p.I342N	TNR_ENST00000263525.2_Missense_Mutation_p.I342N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	342	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I342N(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTCCAGCTCAATGGACCTGTC	0.607000													20	145					0	0	0.010504	0	0
C1orf65	164127	broad.mit.edu	37	1	223567913	223567913	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:223567913G>T	ENST00000366875.3	+	1	1199	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	366								p.A366S(2)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAAGGCGCGCGCCCAGGCAGA	0.672000													23	17					1.28384e-07	1.59217e-07	0.001882	1	0
OR13C4	138804	broad.mit.edu	37	9	107288801	107288801	+	Silent	SNP	C	C	T	rs146391633		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:107288801C>T	ENST00000277216.3	-	1	689	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTCCTGTGGCCGAGTTCGTTC	0.413000													33	101					0	0	0.006230	0	0
MKS1	54903	broad.mit.edu	37	17	56294052	56294052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:56294052C>A	ENST00000393119.2	-	3	310	c.236G>T	c.(235-237)gGg>gTg	p.G79V	MKS1_ENST00000537529.2_Missense_Mutation_p.G69V|MKS1_ENST00000313863.6_Missense_Mutation_p.G79V|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Missense_Mutation_p.G79V	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	79					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.G79V(4)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCTGCCACCCAATCACAAT	0.502000													7	41					0.000274275	0.000304242	0.004482	1	0
CACNA1E	777	broad.mit.edu	37	1	181686252	181686252	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:181686252A>T	ENST00000526775.1	+	11	1504	c.1339A>T	c.(1339-1341)Atc>Ttc	p.I447F	CACNA1E_ENST00000367573.2_Missense_Mutation_p.I447F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I54F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I447F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I447F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	447					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I447F(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGCCAGTATCAAAAGTGC	0.512000													27	139					0	0	0.002096	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093072	30093072	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:30093072G>T	ENST00000567636.1	+	0	1447					NR_003558.1																						ACCTCCAGGAGCTCCTCCTGA	0.572000													10	18					7.48243e-07	9.16559e-07	0.006214	1	0
USP31	57478	broad.mit.edu	37	16	23093759	23093759	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:23093759C>A	ENST00000219689.7	-	12	1949	c.1950_splice	c.e12+1	p.Q650_splice		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	650					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q650H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATTTCCATACCTGCCGAAATC	0.468000													24	111					4.59853e-10	6.10758e-10	0.005443	1	0
LRRC37BP1	147172	broad.mit.edu	37	17	28958781	28958781	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:28958781G>A	ENST00000578265.1	+	0	287				LRRC37BP1_ENST00000412831.1_RNA																							AGCTGAAGAAGCATCTGTAGG	0.463000													35	129					0	0	0.005524	0	0
PDS5A	23244	broad.mit.edu	37	4	39904046	39904046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:39904046C>T	ENST00000303538.8	-	13	1959	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PDS5A_ENST00000503396.1_Missense_Mutation_p.V474I	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	474					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.V474I(4)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGTGGGGGACAAGATACTGA	0.318000													8	68					0	0	0.004482	0	0
SIT1	27240	broad.mit.edu	37	9	35650214	35650214	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:35650214G>T	ENST00000259608.3	-	4	410	c.324C>A	c.(322-324)gaC>gaA	p.D108E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	108					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	p.D108E(2)		endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATCCTGCTGGTCTGGCTCTG	0.617000													21	80					2.21704e-12	3.12472e-12	0.002780	1	0
NPAP1	23742	broad.mit.edu	37	15	24921921	24921921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:24921921C>A	ENST00000329468.2	+	1	1381	c.907C>A	c.(907-909)Cct>Act	p.P303T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P303T(2)									AAAGAGGATGCCTGATGAGAA	0.572000													25	77					1.64293e-13	2.39445e-13	0.003330	1	0
SGIP1	84251	broad.mit.edu	37	1	67155929	67155929	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:67155929A>T	ENST00000371037.4	+	17	1577	c.1500A>T	c.(1498-1500)ttA>ttT	p.L500F	SGIP1_ENST00000371036.3_Missense_Mutation_p.L300F|SGIP1_ENST00000371039.1_Missense_Mutation_p.L301F|SGIP1_ENST00000237247.6_Missense_Mutation_p.L531F|SGIP1_ENST00000371035.3_Missense_Mutation_p.L290F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	500					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.L301F(2)|p.L500F(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGCACCCTTAGCGCGGGCTG	0.463000													69	170					0	0	0.003610	0	0
EPC1	80314	broad.mit.edu	37	10	32573907	32573907	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:32573907G>A	ENST00000319778.6	-	10	1765	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	EPC1_ENST00000263062.8_Missense_Mutation_p.S488L|EPC1_ENST00000375110.2_Missense_Mutation_p.S438L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	488					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.S488L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATGTTGTGGTGAGGAAAGCAT	0.388000													30	108					0	0	0.007291	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713801	138713801	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:138713801C>A	ENST00000389532.4	-	11	2770	c.2706G>T	c.(2704-2706)ctG>ctT	p.L902L	CAMSAP1_ENST00000409386.3_Silent_p.L913L|CAMSAP1_ENST00000312405.6_Silent_p.L624L|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	902						cytoplasm|microtubule		p.L902L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCTTGCCGACAGCGCCTCCA	0.637000													49	119					2.47907e-22	4.11346e-22	0.003610	1	0
EP400NL	347918	broad.mit.edu	37	12	132610920	132610920	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:132610920G>T	ENST00000475841.1	+	7	1826		c.e7-1							EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						TCATATTTCAGTTGCAAAAGA	0.358000													6	7					0.00116845	0.00127254	0.001168	1	0
CHD9	80205	broad.mit.edu	37	16	53358160	53358160	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:53358160C>G	ENST00000566029.1	+	39	8208	c.7999C>G	c.(7999-8001)Cag>Gag	p.Q2667E	CHD9_ENST00000447540.1_Missense_Mutation_p.Q2668E|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2667E|CHD9_ENST00000398510.3_Missense_Mutation_p.Q2683E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2683					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.Q2684E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAAAACTTGCAGTCACTGCA	0.488000													3	72					0	0	0.004672	0	0
KCNU1	157855	broad.mit.edu	37	8	36694374	36694374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:36694374G>T	ENST00000399881.3	+	14	1466	c.1429G>T	c.(1429-1431)Gaa>Taa	p.E477*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	477	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.E477*(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGCTTTGCTGAATTAAAACT	0.433000													35	111					8.4185e-14	1.23899e-13	0.002445	1	0
AK8	158067	broad.mit.edu	37	9	135602879	135602879	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:135602879C>T	ENST00000298545.3	-	12	1685	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	388	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.R388R(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCAGAGTCAGCCGCTCCATGA	0.448000													4	161					0	0	0.009096	0	0
RPL3L	6123	broad.mit.edu	37	16	2002992	2002992	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2002992G>T	ENST00000268661.7	-	3	342	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	83					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.P83H(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCACTAGGGGCGGCGTTTC	0.607000													18	71					0.00047179	0.00052237	0.003330	1	0
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	G	A	rs143761751		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:482774G>A	ENST00000264938.3	-	7	1254	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612000													7	62					0	0	0.001984	0	0
ROBO2	6092	broad.mit.edu	37	3	77623840	77623840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:77623840G>T	ENST00000461745.1	+	14	3062	c.2162G>T	c.(2161-2163)gGa>gTa	p.G721V	ROBO2_ENST00000487694.3_Missense_Mutation_p.G737V|ROBO2_ENST00000332191.8_Missense_Mutation_p.G721V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	721	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G737V(2)|p.G721V(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAGTTCCAAGGAATGGATAGT	0.373000													9	26					1.12685e-05	1.30811e-05	0.004482	1	0
LILRA1	11024	broad.mit.edu	37	19	55107393	55107393	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:55107393G>C	ENST00000251372.3	+	6	1133	c.951G>C	c.(949-951)ctG>ctC	p.L317L	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	317					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L317L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGACATCCTGATCGCAGGTG	0.682000													20	68					0	0	0.003330	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461293	5461293	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:5461293G>T	ENST00000296564.7	+	13	2068	c.1846G>T	c.(1846-1848)Ggt>Tgt	p.G616C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	616								p.G616C(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATGACTCAGGTGATGGAAT	0.418000													44	130					1.03325e-14	1.55116e-14	0.002852	1	0
CPT2	1376	broad.mit.edu	37	1	53676835	53676835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:53676835G>T	ENST00000371486.3	+	4	2004	c.1489G>T	c.(1489-1491)Ggc>Tgc	p.G497C	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	497					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	p.G497C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTCAAGCACGGCCGCACTGA	0.617000													9	33					3.07112e-06	3.6284e-06	0.000978	1	0
ANK1	286	broad.mit.edu	37	8	41553923	41553923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41553923C>A	ENST00000396942.1	-	26	3001	c.2918G>T	c.(2917-2919)aGc>aTc	p.S973I	ANK1_ENST00000265709.8_Missense_Mutation_p.S1014I|ANK1_ENST00000347528.4_Missense_Mutation_p.S973I|ANK1_ENST00000379758.2_Missense_Mutation_p.S973I|ANK1_ENST00000396945.1_Missense_Mutation_p.S973I|ANK1_ENST00000289734.7_Missense_Mutation_p.S973I|ANK1_ENST00000352337.4_Missense_Mutation_p.S973I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	973	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S1014I(2)|p.S973I(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TATGATCCTGCTGGCCAGGCC	0.716000													31	61					1.22384e-17	1.93424e-17	0.002836	1	0
HERC1	8925	broad.mit.edu	37	15	64067496	64067496	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:64067496T>A	ENST00000443617.2	-	2	414	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	109					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.V109V(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACGCTGGAGTACAAGCAGTC	0.473000													33	75					0	0	0.002445	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:160237602C>A	ENST00000275275.5	+	14	1226	c.1055C>A	c.(1054-1056)gCg>gAg	p.A352E	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363E	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468000													77	136					7.83748e-43	1.45345e-42	0.003610	1	0
UPP2	151531	broad.mit.edu	37	2	158980311	158980311	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:158980311T>A	ENST00000605860.1	+	9	932	c.886T>A	c.(886-888)Tta>Ata	p.L296I	UPP2_ENST00000005756.4_Missense_Mutation_p.L239I|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.L296I			O95045	UPP2_HUMAN	uridine phosphorylase 2	239					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.L239I(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGAAAAAAAGTTAGACTACTT	0.453000													40	82					0	0	0.005524	0	0
PCF11	51585	broad.mit.edu	37	11	82879556	82879556	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:82879556G>C	ENST00000298281.4	+	8	2631	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	727	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.D826H(2)|p.D727H(2)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACCATTTGTAGATAGTCCAGC	0.428000													24	43					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9012894	9012894	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9012894A>T	ENST00000397910.4	-	34	38753	c.38550T>A	c.(38548-38550)gcT>gcA	p.A12850A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12852				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A2A(1)|p.A12850A(1)		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						GGAGAGGGCCAGCAGCTGTAG	0.463000													9	263					0	0	0.006214	0	0
RSRC2	65117	broad.mit.edu	37	12	122990164	122990164	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:122990164A>G	ENST00000331738.7	-	10	1360	c.1215T>C	c.(1213-1215)gcT>gcC	p.A405A	RSRC2_ENST00000354654.2_Silent_p.A357A|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	405								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTTCATACTGAGCATCTAAAT	0.398000													43	97					0	0	0.002852	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931156	94931156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:94931156G>A	ENST00000337425.5	-	4	1066	c.992C>T	c.(991-993)tCt>tTt	p.S331F	SERPINA9_ENST00000298845.7_Missense_Mutation_p.S231F|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S295F|SERPINA9_ENST00000424550.2_Missense_Mutation_p.S182F|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S313F|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S233F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	313					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.S331F(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTAGGAGGCAGAAATGGAAAA	0.463000													33	82					0	0	0.003271	0	0
MYRF	745	broad.mit.edu	37	11	61522909	61522909	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:61522909C>A	ENST00000265460.5	+	1	49	c.14C>A	c.(13-15)cCa>cAa	p.P5Q	MYRF_ENST00000278836.5_Intron|RP11-467L20.10_ENST00000536405.1_lincRNA	NM_013279.2	NP_037411.1			myelin regulatory factor									p.P5Q(2)									CACTGGCTTCCAGCAGGTAAC	0.647000													11	29					3.07112e-06	3.6284e-06	0.000978	1	0
NDUFS1	4719	broad.mit.edu	37	2	207003266	207003266	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:207003266C>A	ENST00000233190.5	-	13	1601	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L	NDUFS1_ENST00000440274.1_Silent_p.L409L|NDUFS1_ENST00000449699.1_Silent_p.L445L|NDUFS1_ENST00000423725.1_Silent_p.L388L|NDUFS1_ENST00000457011.1_Silent_p.L329L|NDUFS1_ENST00000455934.2_Silent_p.L459L|NDUFS1_ENST00000432169.1_Silent_p.L334L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	445					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.L445L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GGGAGTCTCCCAGGTGGTCAT	0.408000													18	110					8.00594e-06	9.40305e-06	0.007413	1	0
LVRN	206338	broad.mit.edu	37	5	115339077	115339077	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:115339077G>T	ENST00000357872.4	+	12	2161	c.2037_splice	c.e12+1	p.K679_splice	AQPEP_ENST00000395528.2_Splice_Site_p.K196_splice	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		679					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.K679N(2)									AGGATCCTAAGGTAAGGTTAC	0.294000													9	93					0.000274275	0.000304242	0.004482	1	0
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:48318349G>T	ENST00000435803.1	+	18	7582	c.7558G>T	c.(7558-7560)Gac>Tac	p.D2520Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2520					transport	integral to membrane	ATP binding|ATPase activity	p.D2465Y(2)|p.D2520Y(2)		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						CACATCAATGGACTCCATTGT	0.428000													108	147					1.13638e-54	2.14729e-54	0.003610	1	0
AC005609.1	0	broad.mit.edu	37	5	140242852	140242852	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140242852C>A	ENST00000502505.1	-	1	372	c.124G>T	c.(124-126)Gct>Tct	p.A42S	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA14_ENST00000562220.1_RNA																							CGGGAGGCAGCGCTGGTGGAT	0.652000													11	60					3.07112e-06	3.6284e-06	0.000978	1	0
MUC16	94025	broad.mit.edu	37	19	9065905	9065905	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9065905T>A	ENST00000397910.4	-	3	21744	c.21541A>T	c.(21541-21543)Aca>Tca	p.T7181S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7183	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7181S(4)|p.T2814S(2)		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						GACGCTGCTGTGTTTGTGGAA	0.493000													49	167					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330609	25330609	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:25330609G>T	ENST00000546682.1	+	0	453				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-18_ENST00000383961.1_RNA	NR_003361.1																						CGTCATCCTCGTCGAACTGAG	0.468000													77	186					7.28744e-38	1.33085e-37	0.003610	1	0
UNC5D	137970	broad.mit.edu	37	8	35606200	35606200	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:35606200A>C	ENST00000287272.2	+	11	1735	c.1715A>C	c.(1714-1716)cAg>cCg	p.Q572P	UNC5D_ENST00000453357.2_Missense_Mutation_p.Q636P|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q646P|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q574P|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q217P|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q641P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	641	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.Q636P(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGACACAGCAGGGCAAATGG	0.438000													29	85					0	0	0.002096	0	0
UNK	85451	broad.mit.edu	37	17	73780812	73780812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:73780812G>A	ENST00000293218.3	+	2	79	c.79G>A	c.(79-81)Gac>Aac	p.D27N	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27N(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTCCAGCCGGACATAGAACC	0.647000													5	41					0	0	0.001984	0	0
OR4C46	119749	broad.mit.edu	37	11	51515976	51515976	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:51515976A>T	ENST00000328188.1	+	1	695	c.695A>T	c.(694-696)cAc>cTc	p.H232L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H232L(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGGCAAGGCACAAAGCCCTC	0.483000													30	56					0	0	0.002096	0	0
LYZL6	57151	broad.mit.edu	37	17	34264778	34264778	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:34264778G>A	ENST00000585556.1	-	3	616	c.282C>T	c.(280-282)tgC>tgT	p.C94C	LYZL6_ENST00000394523.3_Silent_p.C94C|LYZL6_ENST00000293274.4_Silent_p.C94C			O75951	LYZL6_HUMAN	lysozyme-like 6	94					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.C94C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCTACGTGGCAAAGGTTTT	0.512000													4	109					0	0	0.009096	0	0
PCSK5	5125	broad.mit.edu	37	9	78937970	78937970	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:78937970T>G	ENST00000545128.1	+	31	4562	c.4024T>G	c.(4024-4026)Tgc>Ggc	p.C1342G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	756					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.C1342G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTCCCAGAGTGCACGCCTGA	0.547000													4	14					0	0	0.009096	0	0
EPHA3	2042	broad.mit.edu	37	3	89391035	89391035	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:89391035G>T	ENST00000336596.2	+	5	1326	c.1101G>T	c.(1099-1101)ggG>ggT	p.G367G	EPHA3_ENST00000452448.2_Silent_p.G367G|EPHA3_ENST00000494014.1_Silent_p.G367G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	367	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.G367G(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAATGTGGGTGGAATATAA	0.488000										TSP Lung(6;0.00050)			18	81					1.55795e-14	2.31566e-14	0.001882	1	0
IVL	3713	broad.mit.edu	37	1	152882470	152882470	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152882470C>T	ENST00000368764.3	+	2	261	c.197C>T	c.(196-198)gCt>gTt	p.A66V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	66					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.A66V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACATGACTGCTGTAAAGGGA	0.542000													66	89					0	0	0.003610	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726451	25726451	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:25726451G>C	ENST00000297012.3	-	1	339	c.305C>G	c.(304-306)aCc>aGc	p.T102S		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	102					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T102S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGGGCAATGGTCACGCCGCC	0.512000													4	285					0	0	0.001168	0	0
LPPR3	79948	broad.mit.edu	37	19	814479	814479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:814479G>T	ENST00000359894.2	-	6	933	c.870C>A	c.(868-870)gaC>gaA	p.D290E	LPPR3_ENST00000520876.3_Missense_Mutation_p.D262E	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		262						integral to membrane	phosphatidate phosphatase activity	p.D290E(2)									CGGCATACACGTCCACAGGGT	0.657000													10	28					1.08611e-07	1.35537e-07	0.000978	1	0
CPXM2	119587	broad.mit.edu	37	10	125521438	125521438	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:125521438T>A	ENST00000241305.3	-	11	1881	c.1727A>T	c.(1726-1728)cAg>cTg	p.Q576L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	576					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q576L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCCTCCTTCTGGAAGTCCTC	0.667000													19	38					0	0	0.006122	0	0
OR5F1	338674	broad.mit.edu	37	11	55761670	55761670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:55761670C>A	ENST00000278409.1	-	1	431	c.432G>T	c.(430-432)atG>atT	p.M144I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCGGCTGCCATTTTTAGGT	0.498000													18	31					6.49762e-13	9.33351e-13	0.006122	1	0
UNC5A	90249	broad.mit.edu	37	5	176306803	176306803	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176306803C>T	ENST00000329542.4	+	15	2719	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G	UNC5A_ENST00000261961.3_Silent_p.G775G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	815	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.G815G(2)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCAACGGCAACCTCAGCC	0.672000													8	73					0	0	0.003080	0	0
PTPRH	5794	broad.mit.edu	37	19	55693445	55693445	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:55693445A>T	ENST00000376350.3	-	19	3159	c.3137T>A	c.(3136-3138)cTt>cAt	p.L1046H	PTPRH_ENST00000263434.5_Missense_Mutation_p.L868H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1046	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1046H(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAAGGGCCCAAGGAGACCCTC	0.607000													63	181					0	0	0.003610	0	0
ESPNL	339768	broad.mit.edu	37	2	239040032	239040032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:239040032G>T	ENST00000343063.3	+	9	2940	c.2677G>T	c.(2677-2679)Ggc>Tgc	p.G893C	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.G525C|ESPNL_ENST00000409169.1_Missense_Mutation_p.G849C	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	893								p.G893C(2)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGCACCCACGGCTGGGAGGC	0.697000													10	8					3.07112e-06	3.6284e-06	0.000978	1	0
NFASC	23114	broad.mit.edu	37	1	204970313	204970313	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:204970313C>A	ENST00000367172.4	+	28	3684	c.3356C>A	c.(3355-3357)tCc>tAc	p.S1119Y	NFASC_ENST00000401399.1_Missense_Mutation_p.S1012Y|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.S1104Y|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.S1012Y|NFASC_ENST00000367170.4_Missense_Mutation_p.S1040Y|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1119	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S1012Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATGAGCAGTCCATATGGAAC	0.527000													10	32					1.33987e-11	1.85783e-11	0.008291	1	0
OR8B4	283162	broad.mit.edu	37	11	124294273	124294273	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:124294273C>A	ENST00000356130.3	-	1	516	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165L(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGAAGGTCAGTCGCAGCA	0.532000													14	19					2.31682e-05	2.6688e-05	0.003163	1	0
ATP1A2	477	broad.mit.edu	37	1	160104960	160104960	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:160104960G>A	ENST00000361216.3	+	15	2079	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G664S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	664					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.G664S(2)		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)			CGTGGTGCACGGCTCTGACCT	0.597000													22	104					0	0	0.002299	0	0
UBA6	55236	broad.mit.edu	37	4	68534382	68534382	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:68534382C>T	ENST00000322244.4	-	9	739	c.680G>A	c.(679-681)gGc>gAc	p.G227D	UBA6_ENST00000420827.2_Missense_Mutation_p.G227D	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	227					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.G227D(2)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGTAACAATGCCAGGATTTGC	0.303000													4	23					0	0	0.009096	0	0
MYH1	4619	broad.mit.edu	37	17	10397739	10397739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:10397739T>A	ENST00000226207.5	-	39	5693	c.5599A>T	c.(5599-5601)Agg>Tgg	p.R1867W	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1867						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1867W(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGGAGCCTGAGAATATTC	0.393000													50	158					0	0	0.003610	0	0
GCSAML	148823	broad.mit.edu	37	1	247737611	247737611	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247737611T>C	ENST00000366491.2	+	7	772	c.275T>C	c.(274-276)cTt>cCt	p.L92P	GCSAML_ENST00000527084.1_Missense_Mutation_p.L80P|GCSAML_ENST00000527541.1_Missense_Mutation_p.L80P|GCSAML_ENST00000463359.1_Missense_Mutation_p.L80P|GCSAML_ENST00000366488.4_Missense_Mutation_p.L112P|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366489.1_Missense_Mutation_p.L92P|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.L92P					germinal center-associated, signaling and motility-like									p.L112P(2)									GAATATGCCCTTCTTAGGACT	0.443000													35	107					0	0	0.002836	0	0
MMP3	4314	broad.mit.edu	37	11	102713485	102713485	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:102713485G>A	ENST00000299855.5	-	2	524	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	90					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P90S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCACACCTGGGCTTGCGCATC	0.512000													9	8					0	0	0.004482	0	0
HECW1	23072	broad.mit.edu	37	7	43447290	43447290	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:43447290A>T	ENST00000395891.1	+	8	1366	c.761A>T	c.(760-762)aAg>aTg	p.K254M	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.K254M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	254	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.K254M(2)|p.K233M(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAGATCCAAGATCATAGGC	0.522000													42	64					0	0	0.002852	0	0
CTPS1	1503	broad.mit.edu	37	1	41453091	41453091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:41453091G>T	ENST00000372621.4	+	4	893	c.385G>T	c.(385-387)Gcg>Tcg	p.A129S	CTPS1_ENST00000372616.1_Missense_Mutation_p.A129S|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000543104.1_Missense_Mutation_p.A136S	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	129					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.A129S(4)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GATGAGACAGGCGTTAATACC	0.433000													22	55					7.07758e-08	8.88778e-08	0.004656	1	0
PTGS1	5742	broad.mit.edu	37	9	125145835	125145835	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:125145835G>T	ENST00000362012.2	+	8	815	c.810G>T	c.(808-810)gtG>gtT	p.V270V	PTGS1_ENST00000223423.4_Silent_p.V270V|PTGS1_ENST00000373698.5_Silent_p.V161V|PTGS1_ENST00000540753.1_Silent_p.V245V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	270					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.V270V(2)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AGGCGCCTGTGTTGATGCACT	0.642000													10	53					1.61879e-10	2.18884e-10	0.001368	1	0
PLCL1	5334	broad.mit.edu	37	2	198950213	198950213	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:198950213G>C	ENST00000428675.1	+	2	2370	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D560H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	658	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D560H(2)|p.D658H(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAATCCACAGGACTTTTGGAA	0.413000													6	61					0	0	0.000978	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947485	57947485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:57947485G>T	ENST00000335397.3	+	3	885	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G190V(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGACCTGTGGGGAGAGCTAC	0.463000													32	116					1.08312e-15	1.65086e-15	0.009535	1	0
ANK2	287	broad.mit.edu	37	4	114153332	114153332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:114153332T>A	ENST00000357077.4	+	5	453	c.400T>A	c.(400-402)Tta>Ata	p.L134I	ANK2_ENST00000394537.3_Missense_Mutation_p.L134I|ANK2_ENST00000506722.1_Missense_Mutation_p.L113I|ANK2_ENST00000264366.6_Missense_Mutation_p.L134I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	134					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.L134I(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTTACTCCTTTATACATGGC	0.393000													50	95					0	0	0.003610	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541382	40541382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:40541382G>C	ENST00000434248.1	-	5	1449	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Q314E	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q462E(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGCAATGTTGAATAAGTTGG	0.378000													17	107					0	0	0.004990	0	0
RNF20	56254	broad.mit.edu	37	9	104319803	104319803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:104319803G>T	ENST00000389120.3	+	16	2397	c.2307G>T	c.(2305-2307)aaG>aaT	p.K769N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	769					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	p.K769N(2)		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)		AGCGTATCAAGTCCAATCAGA	0.453000													12	42					5.16669e-11	7.08203e-11	0.000978	1	0
RASGRF2	5924	broad.mit.edu	37	5	80497210	80497210	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:80497210G>A	ENST00000265080.4	+	19	2922	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R952Q(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGTTTTGCGAGACCCAGAC	0.403000													13	169					0	0	0.003163	0	0
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57175250C>T	ENST00000537055.2	-	2	1548	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.T461T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCCCGTGTGCGTGCGCTGGT	0.662000													17	92					0	0	0.004007	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:102964544T>A	ENST00000233954.1	+	9	1381	c.1110T>A	c.(1108-1110)acT>acA	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383000													19	61					0	0	0.001882	0	0
NPSR1	387129	broad.mit.edu	37	7	34867133	34867133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:34867133T>A	ENST00000360581.1	+	5	727	c.599T>A	c.(598-600)cTg>cAg	p.L200Q	NPSR1_ENST00000381539.3_Missense_Mutation_p.L200Q|NPSR1_ENST00000381542.1_Missense_Mutation_p.L134Q|NPSR1_ENST00000531252.1_Missense_Mutation_p.L189Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.L200Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	200						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.L200Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCTGGGCCCTGTGGCCTGAC	0.532000													17	156					0	0	0.007413	0	0
PZP	5858	broad.mit.edu	37	12	9333633	9333633	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:9333633A>T	ENST00000261336.2	-	15	1813	c.1785T>A	c.(1783-1785)gcT>gcA	p.A595A	PZP_ENST00000381997.2_Silent_p.A464A	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.A595A(2)|p.A464A(2)		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						TTTGGTCCACAGCACGAAGGG	0.592000													13	26					0	0	0.001855	0	0
SEPT14	346288	broad.mit.edu	37	7	55912411	55912411	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:55912411C>A	ENST00000388975.3	-	4	292	c.175_splice	c.e4-1	p.G59_splice	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	59					cell cycle|cell division	septin complex	GTP binding|protein binding	p.G59V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCAGTCTCCCCTGTAATAGA	0.343000													4	23					0.000602214	0.000659463	0.000602	1	0
AGPAT9	84803	broad.mit.edu	37	4	84516068	84516068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:84516068G>T	ENST00000395226.2	+	8	1027	c.809G>T	c.(808-810)tGg>tTg	p.W270L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.W270L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	270					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.W270L(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTCATGTCTGGTTTGAACGC	0.438000													39	149					3.33393e-15	5.043e-15	0.004878	1	0
UBE3B	89910	broad.mit.edu	37	12	109936051	109936051	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:109936051T>C	ENST00000342494.3	+	11	1428	c.833T>C	c.(832-834)tTa>tCa	p.L278S	UBE3B_ENST00000280774.5_Missense_Mutation_p.L278S|UBE3B_ENST00000434735.2_Missense_Mutation_p.L278S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.L278S(2)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCACTGTTTTAGAATCCCAT	0.413000													61	134					0	0	0.003610	0	0
MYBL2	4605	broad.mit.edu	37	20	42344627	42344627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:42344627G>T	ENST00000217026.4	+	14	2130	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	MYBL2_ENST00000396863.4_Missense_Mutation_p.C644F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.C668F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACGGTGGCCTGCGGGGGGACC	0.622000													9	405					5.4927e-09	7.10611e-09	0.004482	1	0
ZNF835	90485	broad.mit.edu	37	19	57175089	57175089	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57175089T>C	ENST00000537055.2	-	2	1709	c.1478A>G	c.(1477-1479)cAg>cGg	p.Q493R		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.Q515R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ATGCGTCCTCTGGTGTCGGAT	0.627000													63	246					0	0	0.003610	0	0
ITGA1	3672	broad.mit.edu	37	5	52211398	52211398	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:52211398G>T	ENST00000282588.6	+	15	2420	c.1962G>T	c.(1960-1962)ggG>ggT	p.G654G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	654					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.G654G(2)		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)				TGACTATTGGGGGCCTTGGTG	0.463000													82	138					3.59392e-34	6.46474e-34	0.003610	1	0
GPHN	10243	broad.mit.edu	37	14	67579829	67579829	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:67579829G>T	ENST00000478722.1	+	16	2688	c.1567G>T	c.(1567-1569)Gtc>Ttc	p.V523F	GPHN_ENST00000543237.1_Missense_Mutation_p.V536F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.V459F|GPHN_ENST00000315266.5_Missense_Mutation_p.V490F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	490	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.V523F(2)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTGTAGGTGTCACAGAGGT	0.468000			T	MLL	AL								8	76					1.26484e-09	1.66882e-09	0.003080	1	0
FBXO16	157574	broad.mit.edu	37	8	28309761	28309761	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:28309761C>A	ENST00000380254.2	-	6	888	c.740_splice	c.e6+1	p.G247_splice	RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000346498.2_Splice_Site_p.G235_splice|FBXO16_ENST00000518734.1_Splice_Site_p.G235_splice|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	247								p.G247V(2)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AGCTTCTTACCCTTGCTGGAC	0.403000													26	58					2.44723e-14	3.62844e-14	0.004656	1	0
LRRC4	64101	broad.mit.edu	37	7	127670602	127670602	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:127670602A>G	ENST00000249363.3	-	2	349	c.92T>C	c.(91-93)cTg>cCg	p.L31P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	31						cell junction|integral to membrane|postsynaptic membrane		p.L31P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGCTGCACACAGAATCCACAC	0.622000													93	54					0	0	0.003610	0	0
RGAG1	57529	broad.mit.edu	37	X	109694400	109694400	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:109694400A>T	ENST00000465301.2	+	3	801	c.555A>T	c.(553-555)tcA>tcT	p.S185S	RGAG1_ENST00000540313.1_Silent_p.S185S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	185										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGCACTTCATCCTCTGAGG	0.473000													4	213					0	0	0.009096	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395968	38395968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:38395968G>T	ENST00000377698.3	+	2	376	c.223G>T	c.(223-225)Gat>Tat	p.D75Y		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGACCGGGCTGATGTGGATCG	0.642000													41	123					5.22555e-25	8.91768e-25	0.003610	1	0
PIWIL2	55124	broad.mit.edu	37	8	22175745	22175745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:22175745G>C	ENST00000356766.6	+	20	2508	c.2360G>C	c.(2359-2361)aGc>aCc	p.S787T	PIWIL2_ENST00000454009.2_Missense_Mutation_p.S787T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.S787T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	787	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.S787T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGTGGACAGCCTGAAGCTA	0.453000													26	105					0	0	0.008361	0	0
HR	55806	broad.mit.edu	37	8	21976735	21976735	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:21976735C>G	ENST00000381418.4	-	15	4519	c.3039G>C	c.(3037-3039)ctG>ctC	p.L1013L	HR_ENST00000312841.8_Silent_p.L1013L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1013	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.L1013L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGATGCTGACCAGGTCGGCCA	0.602000													17	51					0	0	0.004990	0	0
DLAT	1737	broad.mit.edu	37	11	111896296	111896296	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:111896296G>A	ENST00000280346.6	+	1	759	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	DLAT_ENST00000393051.1_Missense_Mutation_p.V34M	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	34					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	p.V34M(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AACTCCACGAGTGACCTCGCG	0.682000													9	35					0	0	0.006214	0	0
FEV	54738	broad.mit.edu	37	2	219846816	219846816	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:219846816T>A	ENST00000295727.1	-	3	871	c.290A>T	c.(289-291)aAc>aTc	p.N97I		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	97					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.N97I(2)	EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTCGTAGTTCATGTTGGG	0.642000			T	"""EWSR1,  FUS"""	Ewing sarcoma								23	28					0	0	0.002299	0	0
ESRP2	80004	broad.mit.edu	37	16	68265245	68265245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:68265245G>A	ENST00000473183.2	-	12	2085	c.1547C>T	c.(1546-1548)aCa>aTa	p.T516I	ESRP2_ENST00000565858.1_Missense_Mutation_p.T526I			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	526	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	p.T516I(4)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CTCTGCTGATGTCATCTGAAT	0.562000													33	37					0	0	0.002096	0	0
SHPRH	257218	broad.mit.edu	37	6	146247376	146247376	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:146247376T>A	ENST00000367503.3	-	16	3683	c.3285A>T	c.(3283-3285)atA>atT	p.I1095I	SHPRH_ENST00000367505.2_Silent_p.I1086I|SHPRH_ENST00000438092.2_Silent_p.I1095I|SHPRH_ENST00000275233.7_Silent_p.I1086I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1086					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.I1095I(2)		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)		AGGTAGGTGGTATCCCTGGGT	0.378000													15	37					0	0	0.004990	0	0
STXBP5	134957	broad.mit.edu	37	6	147631360	147631360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:147631360C>T	ENST00000367481.3	+	10	1166	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	STXBP5_ENST00000321680.6_Missense_Mutation_p.T353I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T24I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T353I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	353					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.T353I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTGTGTGAAACACCATACCCA	0.353000													11	20					0	0	0.000978	0	0
ZZZ3	26009	broad.mit.edu	37	1	78047770	78047770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:78047770C>A	ENST00000370801.3	-	7	2161	c.1686G>T	c.(1684-1686)ttG>ttT	p.L562F	ZZZ3_ENST00000370798.1_Missense_Mutation_p.L68F|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L562F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CGATCTCAGGCAATTGAACAA	0.343000													33	123					4.32679e-17	6.78468e-17	0.006999	1	0
MIDN	90007	broad.mit.edu	37	19	1254919	1254919	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:1254919A>T	ENST00000300952.2	+	6	1230	c.715A>T	c.(715-717)Acg>Tcg	p.T239S	MIDN_ENST00000591446.2_Missense_Mutation_p.T239S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	239						nucleolus		p.T239S(2)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTCCCCCACGGCCAGCAG	0.667000													46	135					0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10970037	10970037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr21:10970037C>A	ENST00000298232.7	-	6	458	c.91G>T	c.(91-93)Gca>Tca	p.A31S	TPTE_ENST00000342420.5_Missense_Mutation_p.A31S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A31S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	31					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A31S(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTCGGTTGCTCCTTTAAAT	0.393000													26	150					1.16021e-09	1.53414e-09	0.007291	1	0
CDH6	1004	broad.mit.edu	37	5	31323317	31323317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:31323317G>T	ENST00000265071.2	+	12	2540	c.2275G>T	c.(2275-2277)Gat>Tat	p.D759Y		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	759					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D759Y(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGACCACGGATGCAGATCA	0.537000													28	115					9.39395e-14	1.37579e-13	0.006320	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202406948	202406948	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:202406948G>T	ENST00000406302.3	+	10	1407		c.e10-1		PPP1R12B_ENST00000336894.4_Splice_Site|PPP1R12B_ENST00000356764.2_Splice_Site|PPP1R12B_ENST00000480184.1_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCTCTCATAGTTCTCTTCTG	0.408000													22	77					1.87028e-06	2.2406e-06	0.001882	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020658	33020658	+	RNA	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:33020658G>C	ENST00000565407.2	+	0	66				RP11-19N8.2_ENST00000567619.1_RNA														p.Q22H(2)									GTGAGGTGCAGCTGGTGGAGT	0.547000													66	69					0	0	0.003610	0	0
SLC12A2	6558	broad.mit.edu	37	5	127483407	127483407	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:127483407C>T	ENST00000262461.2	+	11	2056	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P623S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	623					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	p.P623S(2)		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)	AGTGAGTGCTCCCAAAATATT	0.323000													4	35					0	0	0.009096	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638158	19638158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:19638158G>T	ENST00000555938.1	+	3	254	c.242G>T	c.(241-243)cGg>cTg	p.R81L	NDUFA13_ENST00000252576.5_Missense_Mutation_p.R164L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Missense_Mutation_p.R81L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.R81L|NDUFA13_ENST00000507754.3_Missense_Mutation_p.R81L														p.R164L(2)									GAAACCGACCGGAGGTAGCAC	0.632000													9	59					5.4927e-09	7.10611e-09	0.004482	1	0
ERLEC1	27248	broad.mit.edu	37	2	54045035	54045035	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:54045035G>A	ENST00000185150.4	+	14	1512	c.1380_splice	c.e14-1	p.V461_splice	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Splice_Site_p.V435_splice|ERLEC1_ENST00000378239.5_Splice_Site_p.V407_splice	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	461					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.V461I(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTTCTTTAGGTTGAATCTCC	0.338000													9	48					0	0	0.004482	0	0
C19orf40	91442	broad.mit.edu	37	19	33464469	33464469	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:33464469G>A	ENST00000588258.1	+	3	353		c.e3+1		C19orf40_ENST00000589646.1_Splice_Site|C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Splice_Site	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40						DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GGTTAGAAATGTAAGTATTAg	0.502000								Direct reversal of damage					5	224					0	0	0.000602	0	0
TAAR2	9287	broad.mit.edu	37	6	132938808	132938808	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:132938808G>T	ENST00000275191.2	-	1	509	c.402C>A	c.(400-402)gtC>gtA	p.V134V	TAAR2_ENST00000367931.1_Silent_p.V179V|TAAR2_ENST00000537809.1_Silent_p.V134V	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	179						plasma membrane	G-protein coupled receptor activity	p.V179V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTCTGAGAAGACCACCCCGA	0.463000													19	33					2.35188e-11	3.23857e-11	0.006122	1	0
ITCH	83737	broad.mit.edu	37	20	33067498	33067498	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:33067498A>T	ENST00000374864.4	+	18	1935	c.1722A>T	c.(1720-1722)gcA>gcT	p.A574A	ITCH_ENST00000535650.1_Silent_p.A464A|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Silent_p.A615A	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	615	HECT.|MAP kinase docking site (By similarity).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.A574A(2)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTGAATATGCAGGGAAGGATA	0.353000													30	56					0	0	0.008361	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854852	21854852	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:21854852C>T	ENST00000415645.2	-	4	439	c.400G>A	c.(400-402)Gga>Aga	p.G134R	NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.G134R					nuclear pore complex interacting protein family, member B4									p.G1454R(2)									ATTTTATTTCCTCGAAAGGAA	0.423000													42	566					0	0	0.002852	0	0
UPF1	5976	broad.mit.edu	37	19	18968170	18968170	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:18968170G>C	ENST00000262803.5	+	15	2282	c.2010G>C	c.(2008-2010)gtG>gtC	p.V670V	UPF1_ENST00000599848.1_Silent_p.V681V	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	681					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.V670V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCAGTGGTGATGTGCAAGA	0.627000													26	107					0	0	0.006320	0	0
GALR1	2587	broad.mit.edu	37	18	74963085	74963085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74963085C>A	ENST00000299727.3	+	1	581	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGCCCGACCCTCGCCACAAG	0.662000													27	116					8.16721e-17	1.27733e-16	0.002096	1	0
PANK2	80025	broad.mit.edu	37	20	3869922	3869922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3869922C>T	ENST00000316562.4	+	1	181	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	59					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.R59*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAATCCTCCTCGAGTTAGGGA	0.677000													7	17					0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129649485	129649485	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:129649485C>G	ENST00000421865.2	+	29	4288	c.4239C>G	c.(4237-4239)acC>acG	p.T1413T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1413	Laminin EGF-like 14; second part.				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.T1413T(2)		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)		CTGGACCAACCCTGGGCACCT	0.517000													38	54					0	0	0.005524	0	0
CUX1	1523	broad.mit.edu	37	7	101870904	101870904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:101870904G>T	ENST00000360264.3	+	21	3441	c.3421G>T	c.(3421-3423)Ggc>Tgc	p.G1141C	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1130C|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.G1028C|CUX1_ENST00000550008.2_Missense_Mutation_p.G1074C|CUX1_ENST00000549414.2_Missense_Mutation_p.G1108C|CUX1_ENST00000556210.1_Missense_Mutation_p.G972C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1130					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G1130C(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGACACCTACGGCATAACCAA	0.607000													25	72					1.2476e-16	1.82919e-16	0.116897	1	0
HPCAL4	51440	broad.mit.edu	37	1	40148339	40148339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:40148339G>T	ENST00000372844.3	-	4	836	c.445C>A	c.(445-447)Cag>Aag	p.Q149K		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	149	EF-hand 4.				central nervous system development	intracellular	calcium ion binding	p.Q149K(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCACACGCTGCTGGGGCGTG	0.547000													35	130					6.02501e-08	7.2823e-08	0.235728	1	0
ACOX3	8310	broad.mit.edu	37	4	8418165	8418165	+	Silent	SNP	C	C	T	rs35092737	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:8418165C>T	ENST00000356406.5	-	2	161	c.84G>A	c.(82-84)gcG>gcA	p.A28A	ACOX3_ENST00000413009.2_Silent_p.A28A|ACOX3_ENST00000503233.1_Silent_p.A28A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	28					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.A28A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGCTGAAGGACGCTCTTGCTC	0.607000													5	120					0	0	0.217242	0	0
CCDC15	80071	broad.mit.edu	37	11	124829042	124829042	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:124829042A>T	ENST00000529051.1	+	3	468	c.209A>T	c.(208-210)aAg>aTg	p.K70M	CCDC15_ENST00000344762.5_Missense_Mutation_p.K70M			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	70						centrosome		p.K70M(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAAGAACTAAAGGAACAGCTA	0.299000													9	5					0	0	0.047766	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30882156	30882156	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:30882156C>T	ENST00000251071.5	-	8	1958	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R403H|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R403H|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R403H|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R70H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	403					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.R403H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATATCCCAACGTTTTGGGAG	0.443000													45	114					0	0	0.139131	0	0
RBAK	57786	broad.mit.edu	37	7	5103997	5103997	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:5103997C>T	ENST00000396912.1	+	5	1429	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	RBAK_ENST00000353796.3_Missense_Mutation_p.L304F|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	304					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L304F(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAGGGAACCCTCACTGTACA	0.418000													25	101					0	0	0.279207	0	0
AKAP1	8165	broad.mit.edu	37	17	55193622	55193622	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:55193622G>C	ENST00000337714.3	+	7	2665	c.2432_splice	c.e7+1	p.R811_splice	AKAP1_ENST00000572557.1_Splice_Site_p.R811_splice|AKAP1_ENST00000571629.1_Splice_Site_p.R811_splice|AKAP1_ENST00000539273.1_Splice_Site_p.R811_splice	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	811	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.R811T(2)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGGCAAATCAGGTGAGCGGAG	0.572000													31	101					0	0	0.163468	0	0
ANK1	286	broad.mit.edu	37	8	41581079	41581079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41581079C>A	ENST00000396942.1	-	8	867	c.784G>T	c.(784-786)Gga>Tga	p.G262*	ANK1_ENST00000352337.4_Nonsense_Mutation_p.G262*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.G262*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.G262*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.G262*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.G262*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.G295*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	262	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G295*(2)|p.G262*(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATCTGGGCTCCCCGATCCAGC	0.652000													22	83					7.87624e-14	1.0816e-13	0.264190	1	0
OR6C74	254783	broad.mit.edu	37	12	55641435	55641435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:55641435G>T	ENST00000343870.4	+	1	454	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122L(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAGCGCTATGTGGCCATCTG	0.463000													69	175					3.07281e-33	5.44726e-33	0.139131	1	0
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	by1000genomes	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1																						CTGGAAGAACGTGGTTGCCAC	0.373000													3	21					0	0	0.115264	0	0
MSRB2	22921	broad.mit.edu	37	10	23409753	23409753	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:23409753A>C	ENST00000376510.3	+	5	614	c.511A>C	c.(511-513)Aac>Cac	p.N171H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	171					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N171H(2)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GTTTTGCATCAACAGTGTGGC	0.493000													19	60					0	0	0.204396	0	0
MBTPS1	8720	broad.mit.edu	37	16	84103628	84103628	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:84103628C>G	ENST00000343411.3	-	14	2293	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	600					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.E600Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAGTCTGTTCTGCACCATTT	0.393000													59	106					0	0	0.139131	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812210	140812210	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140812210G>T	ENST00000252085.3	+	1	2026	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.T628T(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.687000													33	179					1.30998e-17	1.94998e-17	0.225048	1	0
TSPAN32	10077	broad.mit.edu	37	11	2337896	2337896	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:2337896C>A	ENST00000182290.4	+	8	855	c.719_splice	c.e8+1	p.R240_splice	TSPAN32_ENST00000381121.3_Splice_Site_p.R240_splice|TSPAN32_ENST00000451520.2_Splice_Site_p.R229_splice	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	240					cell-cell signaling	integral to membrane		p.R240R(2)|p.R240*(1)		breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGACCCCACGGTAGGGCCC	0.657000													9	36					0.0581538	0.059789	0.058154	1	0
HPS5	11234	broad.mit.edu	37	11	18301447	18301447	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:18301447G>C	ENST00000396253.3	-	22	3492	c.3030C>G	c.(3028-3030)ctC>ctG	p.L1010L	HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000349215.3_Silent_p.L1124L|HPS5_ENST00000438420.2_Silent_p.L1010L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1124						cytosol		p.L1124L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGGGACCAGAGAAACCGAT	0.403000									Hermansky-Pudlak syndrome				14	54					0	0	0.146539	0	0
FER	2241	broad.mit.edu	37	5	108281839	108281839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:108281839G>T	ENST00000281092.4	+	11	1629	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	FER_ENST00000438717.2_Missense_Mutation_p.K240N|FER_ENST00000536402.1_Missense_Mutation_p.R311M	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	415					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.K415N(2)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGGAAAGAAAGGAGAGGCTAT	0.373000													71	75					5.79337e-17	8.55838e-17	0.139131	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140731096	140731096	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140731096G>A	ENST00000523390.1	+	1	1269	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.K423K(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGACAAGGGCAAACCAG	0.517000													32	27					0	0	0.153744	0	0
CCDC8	83987	broad.mit.edu	37	19	46914764	46914764	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:46914764C>G	ENST00000307522.3	-	1	2077	c.1304G>C	c.(1303-1305)gGc>gCc	p.G435A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	435						plasma membrane		p.G435A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCTCTGGCCAGCCCGGGC	0.597000													23	76					0	0	0.264190	0	0
LOC440700	440700	broad.mit.edu	37	1	165678714	165678714	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:165678714C>G	ENST00000400982.2	+	0	725					NR_036683.1																						ATCAGAAGAGCGTGGTCATCA	0.512000													6	22					0	0	0.217242	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:36677103G>T	ENST00000265113.4	+	6	1153	c.677G>T	c.(676-678)cGa>cTa	p.R226L	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R226L	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	226					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R226Q(2)|p.R226L(2)		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)	ACTCTTACCCGAATCACAGAG	0.488000													19	105					0.00074312	0.000802076	0.175082	1	0
LSP1	4046	broad.mit.edu	37	11	1904695	1904695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:1904695C>A	ENST00000406638.2	+	4	1519	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	LSP1_ENST00000311604.3_Missense_Mutation_p.L135M|LSP1_ENST00000405957.2_Missense_Mutation_p.L73M|LSP1_ENST00000381775.1_Missense_Mutation_p.L263M|LSP1_ENST00000485341.1_3'UTR	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	135					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.L135M(2)|p.L73M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGAAGTCCACCTGGAGGAGTT	0.607000													23	59					9.95505e-16	1.42042e-15	0.249174	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43629263	43629263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:43629263C>G	ENST00000332857.6	-	2	275	c.247_splice	c.e2+1	p.A83_splice		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.A83P(2)									AGAGCCTTACCTCTCAGACTG	0.547000													47	41					0	0	0.139131	0	0
MPPED2	744	broad.mit.edu	37	11	30435814	30435814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30435814C>A	ENST00000448418.2	-	6	1087	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F	MPPED2_ENST00000358117.5_Missense_Mutation_p.V243F|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	243					nervous system development		hydrolase activity|metal ion binding	p.V243F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TTGGGCCGGACTCGCCTCTGA	0.473000													11	49					7.03913e-09	8.68753e-09	0.093190	1	0
ANK1	286	broad.mit.edu	37	8	41551533	41551533	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41551533G>A	ENST00000396942.1	-	29	3498	c.3415C>T	c.(3415-3417)Cgg>Tgg	p.R1139W	ANK1_ENST00000352337.4_Missense_Mutation_p.R1139W|ANK1_ENST00000379758.2_Missense_Mutation_p.R1139W|ANK1_ENST00000347528.4_Missense_Mutation_p.R1139W|ANK1_ENST00000289734.7_Missense_Mutation_p.R1139W|ANK1_ENST00000396945.1_Missense_Mutation_p.R1139W|ANK1_ENST00000265709.8_Missense_Mutation_p.R1180W			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1139					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1180W(2)|p.R1139W(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAACTTCCGGCGCCGGGGC	0.642000													15	57					0	0	0.160694	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604515	160604515	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:160604515G>T	ENST00000302035.6	-	3	937	c.588C>A	c.(586-588)ctC>ctA	p.L196L	SLAMF1_ENST00000538290.1_Silent_p.L196L|SLAMF1_ENST00000235739.5_Silent_p.L196L|SLAMF1_ENST00000355199.3_Silent_p.L196L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	196	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.L196L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCCGAGGGTGAGGGACAGGA	0.602000													134	71					1.19989e-24	1.99981e-24	0.139131	1	0
EEF2K	29904	broad.mit.edu	37	16	22268069	22268069	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:22268069G>T	ENST00000263026.5	+	7	1093	c.618_splice	c.e7-1	p.V207_splice		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	207	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.V207L(4)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATCCCACCAGGTGGACATCAT	0.617000													11	48					3.07112e-06	3.59321e-06	0.080935	1	0
NEFH	4744	broad.mit.edu	37	22	29886353	29886353	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr22:29886353G>A	ENST00000310624.6	+	4	2757	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	914	Tail.				cell death|nervous system development	neurofilament		p.K908K(2)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGAGGCTCCTG	0.498000													5	13					0	0	0.184627	0	0
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:122002901C>A	ENST00000498619.1	+	7	2568	c.2130C>A	c.(2128-2130)aaC>aaA	p.N710K	CASR_ENST00000296154.5_Missense_Mutation_p.N700K|CASR_ENST00000490131.1_Missense_Mutation_p.N700K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	700					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAAAACCAACCGTGTCCTCC	0.602000													35	99					1.99505e-19	3.05525e-19	0.163468	1	0
VGLL3	389136	broad.mit.edu	37	3	87017756	87017756	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:87017756G>C	ENST00000398399.2	-	3	1284	c.921C>G	c.(919-921)agC>agG	p.S307R	VGLL3_ENST00000383698.3_Missense_Mutation_p.S307R	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S307R(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGAATCCCACGCTGGGCACTA	0.418000													19	52					0	0	0.204396	0	0
CHD4	1108	broad.mit.edu	37	12	6709107	6709107	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:6709107C>A	ENST00000309577.6	-	10	1477	c.1314G>T	c.(1312-1314)ggG>ggT	p.G438G	CHD4_ENST00000544484.1_Silent_p.G435G|CHD4_ENST00000357008.2_Silent_p.G438G|CHD4_ENST00000544040.1_Silent_p.G431G			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	438					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.G438G(4)		central_nervous_system(2)	2						CGAGGTCTCCCCCAACCTCTT	0.522000													98	288					1.04553e-52	1.9541e-52	0.139131	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54913116	54913116	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:54913116G>T	ENST00000474759.1	+	19	1830	c.1782_splice	c.e19+1	p.G594_splice	CACNA2D3_ENST00000490478.1_Splice_Site_p.G500_splice|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Splice_Site_p.G594_splice|CACNA2D3_ENST00000288197.5_Splice_Site_p.G594_splice	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	594						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G594G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGACAAAGGGGTACATTTTT	0.343000													4	23					0.00909568	0.00960464	0.150653	1	0
TFPI2	7980	broad.mit.edu	37	7	93518469	93518469	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:93518469T>C	ENST00000222543.5	-	3	650	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	113	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.Y113C(2)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTAAAGAAATACTTTTCTGT	0.443000													51	186					0	0	0.139131	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:1262039G>T	ENST00000348261.5	+	25	4908	c.4660G>T	c.(4660-4662)Gtg>Ttg	p.V1554L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632000													34	144					1.76533e-06	2.06957e-06	0.193644	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897911	72897911	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:72897911G>T	ENST00000308744.6	+	1	391	c.293G>T	c.(292-294)cGg>cTg	p.R98L	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R98L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	98					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.R98L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGGCTCGCCGGGAGAGGTAA	0.622000													12	21					0.0167234	0.01747	0.105934	1	0
SPTA1	6708	broad.mit.edu	37	1	158585087	158585087	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:158585087A>T	ENST00000368148.3	-	48	6887	c.6707T>A	c.(6706-6708)aTt>aAt	p.I2236N	SPTA1_ENST00000368147.3_Missense_Mutation_p.I2233N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2236					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I2236N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAATCCAATGGTGCTGTA	0.532000													14	415					0	0	0.119110	0	0
AQP9	366	broad.mit.edu	37	15	58465266	58465266	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:58465266G>T	ENST00000219919.4	+	3	608		c.e3-1		AQP9_ENST00000536493.1_Splice_Site|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Splice_Site	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9						cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCCCTTGCAGGTGGTCACAT	0.463000													74	209					5.72124e-26	9.70124e-26	0.139131	1	0
USH2A	7399	broad.mit.edu	37	1	216495266	216495266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:216495266T>C	ENST00000366943.2	-	9	1989	c.1603A>G	c.(1603-1605)Aga>Gga	p.R535G	USH2A_ENST00000307340.3_Missense_Mutation_p.R535G|USH2A_ENST00000366942.3_Missense_Mutation_p.R535G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	535	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGAGGCATCTATATGGCTGG	0.428000										HNSCC(13;0.011)			6	148					0	0	0.248553	0	0
UNK	85451	broad.mit.edu	37	17	73780814	73780814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:73780814C>A	ENST00000293218.3	+	2	81	c.81C>A	c.(79-81)gaC>gaA	p.D27E	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27E(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGCCGGACATAGAACCAC	0.642000													9	40					9.31168e-06	1.06601e-05	0.105934	1	0
UTRN	7402	broad.mit.edu	37	6	144769835	144769835	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:144769835A>G	ENST00000367545.3	+	16	2002	c.2002A>G	c.(2002-2004)Aag>Gag	p.K668E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	668	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)		AAAAAAATCTAAGCAGGAACT	0.433000													4	131					0	0	0.150653	0	0
RXFP3	51289	broad.mit.edu	37	5	33937086	33937086	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:33937086C>A	ENST00000330120.3	+	1	596	c.241C>A	c.(241-243)Cgg>Agg	p.R81R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	81						integral to plasma membrane	N-formyl peptide receptor activity	p.R81R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCCGGGTGCGGATTCTCAT	0.687000													17	101					4.75885e-15	6.67608e-15	0.160694	1	0
CAPN11	11131	broad.mit.edu	37	6	44150906	44150906	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:44150906G>A	ENST00000398776.1	+	21	2106	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D690N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	690	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.D690N(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTATGCAGATGATGACCT	0.522000													40	116					0	0	0.131918	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603156	140603156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140603156G>T	ENST00000239449.4	+	1	79	c.79G>T	c.(79-81)Ggt>Tgt	p.G27C	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		27					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.G27C(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCGGGCAGGTACTGAATC	0.498000													11	92					0.000673444	0.000729564	0.069234	1	0
CMAS	55907	broad.mit.edu	37	12	22208545	22208545	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:22208545G>T	ENST00000229329.2	+	3	689		c.e3+1			NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase						lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	p.?(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGAGGTAATCTCTTT	0.343000													29	90					5.09552e-08	6.17159e-08	0.153744	1	0
ANK3	288	broad.mit.edu	37	10	61833765	61833765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:61833765C>A	ENST00000280772.1	-	37	7065	c.6874G>T	c.(6874-6876)Ggt>Tgt	p.G2292C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2292					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G2292C(2)|p.G2292S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAACAGACCTGCCAGTTCT	0.493000													59	122					1.73933e-33	3.09273e-33	0.139131	1	0
LRFN3	79414	broad.mit.edu	37	19	36430769	36430769	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:36430769G>T	ENST00000588831.1	+	3	1496	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	LRFN3_ENST00000246529.3_Missense_Mutation_p.A148S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	148					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		p.A148S(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGCTGGCGGCCGGCGCCCT	0.677000													19	36					9.7654e-05	0.000108814	0.189662	1	0
ZFAND1	79752	broad.mit.edu	37	8	82615028	82615028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:82615028T>A	ENST00000220669.5	-	8	727	c.709A>T	c.(709-711)Aag>Tag	p.K237*	ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000521895.1_Nonstop_Mutation_p.*127L|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.K230*|ZFAND1_ENST00000519338.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	237							zinc ion binding	p.K237*(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAATCCTCCTTAGCAATCCAG	0.353000													61	179					0	0	0.139131	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522654	32522654	+	RNA	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:32522654G>C	ENST00000411500.1	-	0	552					NR_001298.1																						TGACTTTAATGCTGCCTGGAT	0.547000													7	11					0	0	0.264190	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629414	156629414	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:156629414A>G	ENST00000296518.7	+	5	553	c.344A>G	c.(343-345)gAa>gGa	p.E115G	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E115G|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E115G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	115					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.E115G(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGACTTTGAAAAAACAATT	0.279000													15	53					0	0	0.175082	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:170216488C>A	ENST00000231706.4	-	4	1042	c.727G>T	c.(727-729)Gag>Tag	p.E243*	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	243						integral to membrane	amino acid transmembrane transporter activity	p.E243*(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517000													27	66					3.1745e-13	4.32886e-13	0.134883	1	0
MAT1A	4143	broad.mit.edu	37	10	82036276	82036276	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:82036276C>A	ENST00000372213.3	-	6	884	c.624G>T	c.(622-624)caG>caT	p.Q208H		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	208					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.Q208H(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTCGTTGTGCTGCACAGAGA	0.582000													80	190					1.3913e-53	2.61707e-53	0.139131	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18491482	18491482	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:18491482G>T	ENST00000433979.1	+	9	1511	c.1395_splice	c.e9+1	p.E465_splice	PIK3C2G_ENST00000266497.5_Splice_Site_p.E465_splice|PIK3C2G_ENST00000538779.1_Splice_Site_p.E465_splice|PIK3C2G_ENST00000535651.1_Splice_Site_p.E465_splice	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	465					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E465D(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAAAGGAGAGGTAAGTACAT	0.313000													39	110					1.04594e-18	1.577e-18	0.235728	1	0
UGT2B15	7366	broad.mit.edu	37	4	69535962	69535962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:69535962G>T	ENST00000338206.5	-	1	384	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	125					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.N125K(2)									TACAGAGCTTGTTACTGTAGT	0.328000													62	261					1.00798e-23	1.66104e-23	0.139131	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22863618	22863618	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:22863618G>T	ENST00000251822.6	+	4	979	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.D170Y|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.D155Y	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.D148Y(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCGCTACGCTGACCTGGAGGC	0.597000													81	247					1.51503e-27	2.61444e-27	0.139131	1	0
XIRP2	129446	broad.mit.edu	37	2	168099691	168099691	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:168099691G>T	ENST00000409195.1	+	9	1878	c.1789G>T	c.(1789-1791)Ggt>Tgt	p.G597C	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G375C|XIRP2_ENST00000295237.9_Missense_Mutation_p.G597C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	422					actin cytoskeleton organization	cell junction	actin binding	p.G597C(2)		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						TCCTGATGAAGGTGATATTTC	0.438000													33	70					1.04352e-10	1.34462e-10	0.193644	1	0
ALK	238	broad.mit.edu	37	2	29551229	29551229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:29551229C>A	ENST00000389048.3	-	6	2307	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	467	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E467D(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACATCTGGCTCTCATCTTCTC	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				38	71					1.04594e-18	1.577e-18	0.235728	1	0
STAT1	6772	broad.mit.edu	37	2	191841713	191841713	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:191841713C>T	ENST00000361099.3	-	22	2299	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	STAT1_ENST00000409465.1_Missense_Mutation_p.E638K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.E638K|STAT1_ENST00000392323.2_Missense_Mutation_p.E640K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	638	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E638K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCAGAAAGTTCTTTCTTCGTG	0.398000													15	102					0	0	0.160694	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631831	122631831	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:122631831A>G	ENST00000195173.4	-	18	2884	c.2581T>C	c.(2581-2583)Tgg>Cgg	p.W861R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.W916R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.W862R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	862	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.W916R(2)|p.W862R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGACGACCACGGGCCCCAG	0.746000													13	23					0	0	0.105934	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212536	35212536	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:35212536A>G	ENST00000274938.7	+	18	2349	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P	SCUBE3_ENST00000394681.1_Silent_p.P799P	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	783					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	p.P783P(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCCGCTGTCCAGGAAACACAA	0.577000													37	106					0	0	0.139131	0	0
LONP2	83752	broad.mit.edu	37	16	48303941	48303941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:48303941A>T	ENST00000285737.4	+	7	1090	c.997A>T	c.(997-999)Agg>Tgg	p.R333W	LONP2_ENST00000535754.1_Missense_Mutation_p.R289W	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	333					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.R333W(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGACATTAGGGCAGCCCG	0.383000													17	163					0	0	0.160694	0	0
PTPRR	5801	broad.mit.edu	37	12	71054802	71054802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:71054802G>T	ENST00000283228.2	-	12	2136	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	PTPRR_ENST00000342084.4_Missense_Mutation_p.Q450K|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000378778.1_Missense_Mutation_p.Q356K|PTPRR_ENST00000440835.2_Missense_Mutation_p.Q317K|PTPRR_ENST00000549308.1_Missense_Mutation_p.Q317K	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	562	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q562K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGAGGGGCTGGGCACTGTCT	0.532000													15	54					1.49906e-05	1.69623e-05	0.119110	1	0
C14orf93	60686	broad.mit.edu	37	14	23468206	23468206	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:23468206G>A	ENST00000299088.6	-	2	456	c.27C>T	c.(25-27)ttC>ttT	p.F9F	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.F9F|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Silent_p.F9F|C14orf93_ENST00000397382.4_Silent_p.F9F|C14orf93_ENST00000341470.4_Silent_p.F9F	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	9						extracellular region		p.F9F(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGGGAGGGGAGAAGAGAATGG	0.587000													25	90					0	0	0.193644	0	0
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144998070C>A	ENST00000322810.4	-	31	6607	c.6438G>T	c.(6436-6438)gaG>gaT	p.E2146D	PLEC_ENST00000354958.2_Missense_Mutation_p.E1987D|PLEC_ENST00000398774.2_Missense_Mutation_p.E1977D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1995D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2009D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2036D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2013D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2032D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2009D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2146	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2009D(2)|p.E2036D(2)|p.E2146D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGACTTCCTCCAGCGCCG	0.756000													4	9					0.0215528	0.0224348	0.217242	1	0
TRIO	7204	broad.mit.edu	37	5	14461326	14461326	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:14461326A>G	ENST00000344204.4	+	35	5426	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	TRIO_ENST00000537187.1_Missense_Mutation_p.K1801R|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1801					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.K1801R(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAAGCACAAGAAGAGCCGC	0.706000													4	8					0	0	0.150653	0	0
OR5M8	219484	broad.mit.edu	37	11	56258462	56258462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56258462G>T	ENST00000327216.2	-	1	409	c.385C>A	c.(385-387)Ctg>Atg	p.L129M		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L129M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCATAAAGCAGAGGGTTGCAG	0.517000													28	53					7.11191e-15	9.90587e-15	0.173368	1	0
CD163	9332	broad.mit.edu	37	12	7647772	7647772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:7647772C>A	ENST00000359156.4	-	6	1527	c.1325G>T	c.(1324-1326)tGt>tTt	p.C442F	CD163_ENST00000432237.2_Missense_Mutation_p.C442F|CD163_ENST00000396620.3_Missense_Mutation_p.C442F|CD163_ENST00000541972.1_Missense_Mutation_p.C430F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	442	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.C442F(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCGTTACAGCTACTTAG	0.448000													59	154					2.40265e-35	4.33812e-35	0.139131	1	0
TMC2	117532	broad.mit.edu	37	20	2597907	2597907	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:2597907G>A	ENST00000358864.1	+	16	2145	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	710						integral to membrane		p.V710V(2)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTGCCGGTGGCCTACACCA	0.622000													17	47					0	0	0.116897	0	0
FCHO2	115548	broad.mit.edu	37	5	72383455	72383455	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:72383455G>A	ENST00000430046.2	+	25	2401	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	FCHO2_ENST00000341845.6_Missense_Mutation_p.G762E|FCHO2_ENST00000512348.1_Missense_Mutation_p.G729E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	762								p.G762E(4)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CTTTCAGAAGGACCTAGTAAA	0.423000													22	113					0	0	0.234183	0	0
LRFN5	145581	broad.mit.edu	37	14	42356354	42356354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:42356354C>A	ENST00000554171.1	+	5	2958	c.526C>A	c.(526-528)Ctt>Att	p.L176I	LRFN5_ENST00000298119.4_Missense_Mutation_p.L176I|LRFN5_ENST00000554120.1_Missense_Mutation_p.L176I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	176						integral to membrane		p.L176I(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTGCATACCCTTAGTTTGGA	0.408000										HNSCC(30;0.082)			22	59					7.92052e-27	1.35088e-26	0.249174	1	0
FPR2	2358	broad.mit.edu	37	19	52272906	52272906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:52272906C>A	ENST00000598776.1	+	2	1767	c.995C>A	c.(994-996)aCt>aAt	p.T332N	FPR2_ENST00000340023.6_Missense_Mutation_p.T332N|FPR2_ENST00000598953.1_Missense_Mutation_p.T332N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	332					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T332N(2)|p.T332I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAGCCCCAACTAATGACACG	0.537000													21	57					2.39187e-15	3.39323e-15	0.204396	1	0
TRPS1	7227	broad.mit.edu	37	8	116631413	116631413	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:116631413C>A	ENST00000395715.3	-	3	1489	c.912G>T	c.(910-912)ctG>ctT	p.L304L	TRPS1_ENST00000519674.1_Silent_p.L291L|TRPS1_ENST00000519076.1_Silent_p.L245L|TRPS1_ENST00000520276.1_Silent_p.L295L|TRPS1_ENST00000220888.5_Silent_p.L291L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	291					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L304L(2)|p.L291L(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGATGTCCTGCAGCACACCAG	0.418000									Langer-Giedion syndrome				24	56					9.86323e-18	1.47194e-17	0.294199	1	0
GRM1	2911	broad.mit.edu	37	6	146720744	146720744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:146720744C>A	ENST00000392299.2	+	8	3039	c.2569C>A	c.(2569-2571)Cgc>Agc	p.R857S	GRM1_ENST00000492807.2_Missense_Mutation_p.R857S|GRM1_ENST00000507907.1_Missense_Mutation_p.R857S|GRM1_ENST00000282753.1_Missense_Mutation_p.R857S|GRM1_ENST00000355289.4_Missense_Mutation_p.R857S|GRM1_ENST00000361719.2_Missense_Mutation_p.R857S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	857					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R857S(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGATGTTGTCCGCATGCATGT	0.527000													13	40					1.49906e-05	1.69623e-05	0.119110	1	0
L1CAM	3897	broad.mit.edu	37	X	153130579	153130579	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:153130579C>A	ENST00000370060.1	-	22	3025	c.2836G>T	c.(2836-2838)Ggc>Tgc	p.G946C	L1CAM_ENST00000543994.1_Missense_Mutation_p.G948C|L1CAM_ENST00000538883.1_Missense_Mutation_p.G948C|L1CAM_ENST00000361699.4_Missense_Mutation_p.G946C|L1CAM_ENST00000370057.3_Missense_Mutation_p.G946C|L1CAM_ENST00000370055.1_Missense_Mutation_p.G941C|L1CAM_ENST00000361981.3_Missense_Mutation_p.G941C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	946	Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGCACGCCGTTGTGGCTG	0.711000													16	26					4.35082e-09	5.38103e-09	0.219247	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111591	142111591	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142111591T>G	ENST00000390378.1	-	0	144																											GACACACTGGTGTGCCCAGAG	0.532000													84	65					0	0	0.139131	0	0
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:44587938G>A	ENST00000322927.2	-	15	2255	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R564C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R719C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657000													38	77					0	0	0.257332	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303881	151303881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:151303881G>T	ENST00000370323.4	-	4	528	c.212C>A	c.(211-213)cCa>cAa	p.P71Q	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P71Q|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	71								p.P71Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCTCCTCTGGGGTGCTTGG	0.532000													70	145					1.85257e-25	3.11424e-25	0.139131	1	0
CLCA4	22802	broad.mit.edu	37	1	87012868	87012868	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:87012868C>A	ENST00000370563.3	+	1	108	c.66C>A	c.(64-66)tcC>tcA	p.S22S		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	22						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.S22S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATACTTCCTTCATTAAGC	0.363000													32	90					7.11191e-15	9.90587e-15	0.173368	1	0
TMEM66	51669	broad.mit.edu	37	8	29924385	29924385	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:29924385A>G	ENST00000256255.6	-	4	1007	c.750T>C	c.(748-750)ttT>ttC	p.F250F	TMEM66_ENST00000536273.1_Silent_p.F78F|TMEM66_ENST00000545648.1_Silent_p.F78F	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	250						integral to membrane		p.F250F(2)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GTTGTCCTGTAAAAGCACTGC	0.398000													49	141					0	0	0.139131	0	0
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:164733862G>C	ENST00000264382.3	-	32	3828	c.3766C>G	c.(3766-3768)Cag>Gag	p.Q1256E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGTACTGAACATCCTGA	0.333000										HNSCC(35;0.089)			19	198					0	0	0.204396	0	0
GPATCH1	55094	broad.mit.edu	37	19	33588796	33588796	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:33588796A>G	ENST00000170564.2	+	8	1302	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	330						catalytic step 2 spliceosome	nucleic acid binding	p.K330E(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAGGCAGTATAAAAACCAGAA	0.507000													33	92					0	0	0.173368	0	0
HDAC5	10014	broad.mit.edu	37	17	42168703	42168703	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:42168703T>A	ENST00000225983.6	-	11	1648	c.1325A>T	c.(1324-1326)cAt>cTt	p.H442L	HDAC5_ENST00000586802.1_Missense_Mutation_p.H441L|HDAC5_ENST00000336057.5_Missense_Mutation_p.H441L|HDAC5_ENST00000393622.2_Missense_Mutation_p.H441L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	441					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.H441L(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CAGGGAGGCATGCCCGTGGGG	0.662000													11	33					0	0	0.069234	0	0
LRP1B	53353	broad.mit.edu	37	2	141665515	141665515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:141665515G>T	ENST00000389484.3	-	22	4422	c.3451C>A	c.(3451-3453)Ctg>Atg	p.L1151M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1151	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1151M(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGGCTGCAGGCAGACTGAG	0.453000										TSP Lung(27;0.18)			49	162					8.04919e-23	1.30437e-22	0.139131	1	0
LRRTM3	347731	broad.mit.edu	37	10	68857483	68857483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:68857483G>T	ENST00000361320.4	+	3	2253	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	559						integral to membrane		p.E559*(4)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACACACCTAGAGACTGAGCT	0.483000													14	72					0.000151284	0.000167934	0.105934	1	0
FCRL4	83417	broad.mit.edu	37	1	157556003	157556003	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:157556003T>A	ENST00000271532.1	-	6	1225	c.1090A>T	c.(1090-1092)Agc>Tgc	p.S364C	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	364	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGGCCGTAGCTGTTGTCTGCT	0.493000													8	235					0	0	0.278610	0	0
VCAN	1462	broad.mit.edu	37	5	82785999	82785999	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:82785999T>A	ENST00000265077.3	+	3	718	c.153T>A	c.(151-153)acT>acA	p.T51T	VCAN_ENST00000513984.1_Silent_p.T51T|VCAN_ENST00000343200.5_Silent_p.T51T|VCAN_ENST00000512590.2_Silent_p.T3T|VCAN_ENST00000502527.2_Silent_p.T51T|VCAN_ENST00000342785.4_Silent_p.T51T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	51	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.T51T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGATGCCTACTTTGCCACCCA	0.438000													5	193					0	0	0.184627	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558219	140558219	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140558219G>T	ENST00000239444.2	+	1	849	c.604G>T	c.(604-606)Gac>Tac	p.D202Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D202Y(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGCGCTGGACCGAGAGGA	0.532000													64	227					2.40041e-21	3.81587e-21	0.139131	1	0
OR6A2	8590	broad.mit.edu	37	11	6816036	6816036	+	Missense_Mutation	SNP	C	C	A	rs146813493	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:6816036C>A	ENST00000332601.3	-	1	1092	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V302F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTCTCTTGACCTCTTGATTG	0.473000													23	85					7.87624e-14	1.0816e-13	0.264190	1	0
FRMD7	90167	broad.mit.edu	37	X	131228118	131228118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:131228118G>T	ENST00000298542.4	-	5	509	c.334C>A	c.(334-336)Cca>Aca	p.P112T	FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Missense_Mutation_p.P97T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	112	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.P112T(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCATGGAAGCCTTCCT	0.403000													56	110					5.08636e-23	8.28836e-23	0.139131	1	0
ZFP41	286128	broad.mit.edu	37	8	144332252	144332252	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144332252C>T	ENST00000330701.4	+	2	608	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ZFP41_ENST00000522452.1_Missense_Mutation_p.P80L|ZFP41_ENST00000520584.1_Missense_Mutation_p.P80L	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	80					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P80L(2)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GTGTTCATTCCTTTTCAGAGG	0.512000													35	85					0	0	0.214465	0	0
COL4A2	1284	broad.mit.edu	37	13	111130348	111130348	+	Splice_Site	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:111130348A>G	ENST00000360467.5	+	30	2731		c.e30-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.?(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGATTCCTGCAGGAAGCCAAG	0.582000													25	67					0	0	0.125774	0	0
NOP2	4839	broad.mit.edu	37	12	6671110	6671110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:6671110C>A	ENST00000541778.1	-	10	1482	c.994G>T	c.(994-996)Gat>Tat	p.D332Y	NOP2_ENST00000537442.1_Missense_Mutation_p.D336Y|NOP2_ENST00000322166.5_Missense_Mutation_p.D336Y|NOP2_ENST00000382421.3_Missense_Mutation_p.D369Y|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.D332Y|NOP2_ENST00000545200.1_Missense_Mutation_p.D332Y			P46087	NOP2_HUMAN	NOP2 nucleolar protein	336					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	p.D332Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CCCAGGGGATCCAGGTTAACC	0.478000													4	19					0.00909568	0.00960464	0.150653	1	0
TENM3	55714	broad.mit.edu	37	4	183664485	183664485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:183664485G>T	ENST00000511685.1	+	19	3665	c.3542G>T	c.(3541-3543)gGg>gTg	p.G1181V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G1181V					teneurin transmembrane protein 3									p.G1181V(2)									CTAGCTTGTGGGATCGATGGC	0.507000													26	80					0.00395357	0.00422051	0.294199	1	0
SUSD1	64420	broad.mit.edu	37	9	114820914	114820914	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:114820914C>T	ENST00000374270.3	-	14	2075	c.1903G>A	c.(1903-1905)Gat>Aat	p.D635N	SUSD1_ENST00000374264.2_Missense_Mutation_p.D635N|SUSD1_ENST00000374263.3_Missense_Mutation_p.D635N	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	635						integral to membrane	calcium ion binding	p.D635N(2)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTCAGAATCACAAGAAAAT	0.488000													14	137					0	0	0.132662	0	0
FOXI1	2299	broad.mit.edu	37	5	169533120	169533120	+	Silent	SNP	C	C	G	rs146116253		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169533120C>G	ENST00000449804.2	+	1	204	c.159C>G	c.(157-159)ggC>ggG	p.G53G	FOXI1_ENST00000306268.6_Silent_p.G53G	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	53	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.G53G(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGGGGCGGCGAGTATGGGG	0.692000									Pendred syndrome				8	36					0	0	0.278610	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													3	22					0	0	0.115264	0	0
MSMO1	6307	broad.mit.edu	37	4	166258949	166258949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:166258949A>T	ENST00000261507.6	+	3	437	c.264A>T	c.(262-264)ccA>ccT	p.P88P	MSMO1_ENST00000504317.1_Silent_p.P88P|MSMO1_ENST00000393766.2_5'UTR	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	88					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.P88P(2)								NADH(DB00157)	AGGATAAGCCAGAGACATGGG	0.343000													9	82					0	0	0.058154	0	0
ADAM33	80332	broad.mit.edu	37	20	3654111	3654111	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3654111G>T	ENST00000356518.2	-	11	1264	c.1023C>A	c.(1021-1023)gcC>gcA	p.A341A	ADAM33_ENST00000379861.4_Silent_p.A341A|ADAM33_ENST00000350009.2_Silent_p.A341A|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	341	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.A341A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGGCCATGGTGGCTGCGGCGC	0.741000													3	12					0.115264	0.117884	0.115264	1	0
CA10	56934	broad.mit.edu	37	17	49710885	49710885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:49710885G>T	ENST00000451037.2	-	8	1856	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	CA10_ENST00000442502.2_Missense_Mutation_p.Q306K|CA10_ENST00000340813.6_Missense_Mutation_p.Q312K|CA10_ENST00000570565.1_Missense_Mutation_p.Q231K|CA10_ENST00000285273.4_Missense_Mutation_p.Q306K	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	306					brain development			p.Q306K(2)		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)			TCCTTCCCCTGTAAACTGAAG	0.512000													22	75					4.4004e-07	5.24284e-07	0.279207	1	0
FAT1	2195	broad.mit.edu	37	4	187538952	187538952	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:187538952C>A	ENST00000441802.2	-	10	8997	c.8788G>T	c.(8788-8790)Gat>Tat	p.D2930Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2930	Cadherin 27.				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	p.D2933Y(2)|p.D2930Y(2)		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						TGGGGGTCATCCTCACTCACA	0.463000										HNSCC(5;0.00058)			43	126					4.14194e-30	7.25459e-30	0.301197	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734888	176734888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176734888G>T	ENST00000367662.3	+	15	5402	c.4238G>T	c.(4237-4239)gGc>gTc	p.G1413V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1413	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G1413V(2)		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						ACCTCTATAGGCCCAGGTCTC	0.522000													78	207					3.18133e-15	4.48452e-15	0.139131	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918110	51918110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51918110C>A	ENST00000356298.5	-	8	1699	c.1583G>T	c.(1582-1584)gGg>gTg	p.G528V	SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G470V|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G528V|SIGLEC10_ENST00000525998.1_Intron	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	528					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.G528V(2)|p.G470V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACTCTGGGCCCCATGGACGTT	0.662000													51	152					6.9144e-35	1.23698e-34	0.139131	1	0
U2SURP	23350	broad.mit.edu	37	3	142757772	142757772	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:142757772A>G	ENST00000397933.2	+	22	2409	c.1127A>G	c.(1126-1128)cAt>cGt	p.H376R	U2SURP_ENST00000473835.2_Missense_Mutation_p.H785R|U2SURP_ENST00000493598.2_Missense_Mutation_p.H784R			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	785	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding	p.H785R(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTTGACCAGCATGAAGAATCA	0.323000													3	7					0	0	0.115264	0	0
KCNA1	3736	broad.mit.edu	37	12	5021590	5021590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:5021590C>A	ENST00000382545.3	+	2	2153	c.1046C>A	c.(1045-1047)gCg>gAg	p.A349E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	349					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.A349E(2)|p.A349V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTGCCGAGGCGGAAGAAGCT	0.532000													64	153					1.88225e-35	3.41962e-35	0.139131	1	0
SLC14A2	8170	broad.mit.edu	37	18	43217060	43217060	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:43217060C>T	ENST00000255226.6	+	6	1572	c.756C>T	c.(754-756)ggC>ggT	p.G252G	SLC14A2_ENST00000586448.1_Silent_p.G252G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	252						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G252G(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCACAGGCCACTACAACC	0.512000													40	87					0	0	0.246493	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131116	55131116	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:55131116C>G	ENST00000257290.5	+	5	990	c.659C>G	c.(658-660)gCt>gGt	p.A220G	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	220	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A220G(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAATGGAAGCTCTTAAAACC	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			78	112					0	0	0.139131	0	0
HMP19	51617	broad.mit.edu	37	5	173534364	173534364	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:173534364G>T	ENST00000303177.3	+	5	634	c.372G>T	c.(370-372)caG>caT	p.Q124H	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1												p.Q124H(2)									ACTCCTCCCAGGACCCCAATT	0.592000													24	111					6.44725e-10	8.18144e-10	0.249174	1	0
PLA2G5	5322	broad.mit.edu	37	1	20416375	20416375	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:20416375C>A	ENST00000375108.3	+	4	547	c.279C>A	c.(277-279)ggC>ggA	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582000													9	47					3.09899e-07	3.70737e-07	0.047766	1	0
GID8	54994	broad.mit.edu	37	20	61576189	61576189	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:61576189C>T	ENST00000266069.3	+	5	759	c.612C>T	c.(610-612)aaC>aaT	p.N204N		NM_017896.2	NP_060366.1			GID complex subunit 8									p.N204N(2)									GGGCTCAGAACGAGCTGGACC	0.473000													17	53					0	0	0.160694	0	0
NOS1	4842	broad.mit.edu	37	12	117715825	117715825	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:117715825C>T	ENST00000317775.6	-	9	2288	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.D535N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	535					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D535N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTCAGGGTCATTGCCGTTG	0.602000													11	133					0	0	0.080935	0	0
SMCHD1	23347	broad.mit.edu	37	18	2698038	2698038	+	Splice_Site	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:2698038A>T	ENST00000320876.6	+	10	1679	c.1342_splice	c.e10+1	p.S447_splice	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site_p.S447_splice	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	447					chromosome organization		ATP binding	p.S447S(4)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCTTTCCATCAAGTATGTTAA	0.333000													9	32					0	0	0.047766	0	0
ITGBL1	9358	broad.mit.edu	37	13	102367988	102367988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:102367988G>C	ENST00000376180.3	+	11	1688	c.1469G>C	c.(1468-1470)gGc>gCc	p.G490A	ITGBL1_ENST00000376162.3_Missense_Mutation_p.G397A|ITGBL1_ENST00000545560.2_Missense_Mutation_p.G349A	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	490	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.G490A(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTGGCTTGGCTCAGAATAT	0.383000													44	141					0	0	0.131918	0	0
PSD2	84249	broad.mit.edu	37	5	139193210	139193210	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:139193210C>T	ENST00000274710.3	+	3	893	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	230					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R230C(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCAGCCGCTCTGAGAA	0.632000													16	16					0	0	0.264190	0	0
SLIT3	6586	broad.mit.edu	37	5	168093656	168093656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:168093656G>T	ENST00000519560.1	-	36	4794	c.4375C>A	c.(4375-4377)Cgc>Agc	p.R1459S	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1459	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R1459S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGCGGCGGATCACCTCT	0.607000													17	81					5.3912e-06	6.24526e-06	0.175082	1	0
CYP4F11	57834	broad.mit.edu	37	19	16025585	16025585	+	Silent	SNP	G	G	T	rs140718122		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:16025585G>T	ENST00000326742.7	-	9	1237	c.1236C>A	c.(1234-1236)cgC>cgA	p.R412R	CYP4F11_ENST00000402119.3_Silent_p.R412R|CYP4F11_ENST00000248041.7_Silent_p.R412R			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	412					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R412R(2)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGGGGATGACGCGGCCGTCTG	0.632000													31	105					2.80507e-11	3.67107e-11	0.163468	1	0
ACTN2	88	broad.mit.edu	37	1	236902645	236902645	+	Missense_Mutation	SNP	G	G	T	rs112882610		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:236902645G>T	ENST00000366578.4	+	10	1086	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R307L|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	307					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R307L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTGGAGAACCGGACTCCCGAG	0.567000													53	60					5.99346e-17	8.83167e-17	0.139131	1	0
KIF17	57576	broad.mit.edu	37	1	21044096	21044096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:21044096G>C	ENST00000247986.2	-	1	414	c.104C>G	c.(103-105)gCc>gGc	p.A35G	KIF17_ENST00000400463.3_Missense_Mutation_p.A35G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	35	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A35G(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCAGCACTGGGCGCGCGCGCA	0.692000													19	54					0	0	0.204396	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													5	68					0	0	0.217242	0	0
VCAM1	7412	broad.mit.edu	37	1	101190255	101190255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:101190255G>T	ENST00000294728.2	+	4	838	c.737G>T	c.(736-738)tGt>tTt	p.C246F	VCAM1_ENST00000347652.2_Missense_Mutation_p.C246F|VCAM1_ENST00000370119.4_Missense_Mutation_p.C184F|VCAM1_ENST00000370115.1_Missense_Mutation_p.C246F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	246	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.C246F(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCATGACCTGTTCCAGCGAG	0.413000													23	91					3.08376e-08	3.75052e-08	0.279207	1	0
MECOM	2122	broad.mit.edu	37	3	168840409	168840409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:168840409G>T	ENST00000464456.1	-	5	1573	c.373C>A	c.(373-375)Cat>Aat	p.H125N	MECOM_ENST00000494292.1_Missense_Mutation_p.H313N|MECOM_ENST00000460814.1_Missense_Mutation_p.H125N|MECOM_ENST00000433243.2_Missense_Mutation_p.H125N|MECOM_ENST00000472280.1_Missense_Mutation_p.H125N|MECOM_ENST00000392736.3_Missense_Mutation_p.H125N|MECOM_ENST00000468789.1_Missense_Mutation_p.H125N|MECOM_ENST00000264674.3_Missense_Mutation_p.H189N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.H125N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCACTGTCATGTGACATCTGG	0.433000													8	122					0.0477658	0.0492821	0.047766	1	0
SYT1	6857	broad.mit.edu	37	12	79679716	79679716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:79679716G>T	ENST00000261205.4	+	5	973	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	SYT1_ENST00000552744.1_Missense_Mutation_p.D106Y|SYT1_ENST00000393240.3_Missense_Mutation_p.D106Y|SYT1_ENST00000457153.2_Missense_Mutation_p.D106Y	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	106					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.D106Y(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAACATGAAAGATGTAAAAGA	0.303000													14	32					7.93312e-07	9.37551e-07	0.119110	1	0
RP1L1	94137	broad.mit.edu	37	8	10468146	10468146	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:10468146C>A	ENST00000382483.3	-	4	3685	c.3462G>T	c.(3460-3462)tcG>tcT	p.S1154S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1154					intracellular signal transduction			p.S1154S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGTCCTTCGAGATGCTGA	0.587000													30	69					3.1745e-13	4.32886e-13	0.134883	1	0
HGFAC	3083	broad.mit.edu	37	4	3444869	3444869	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:3444869A>G	ENST00000382774.3	+	3	506	c.391A>G	c.(391-393)Aag>Gag	p.K131E	HGFAC_ENST00000511533.1_Missense_Mutation_p.K131E	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	131	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.K131E(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCACACAGGAAGTGGTGGGT	0.697000													5	22					0	0	0.217242	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374339	95374339	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:95374339C>A	ENST00000494840.1	-	0	1522					NR_077228.1																						ATGGGGTAGCCGGTAACATGG	0.433000													11	69					4.36969e-10	5.56921e-10	0.105934	1	0
SLFN11	91607	broad.mit.edu	37	17	33687261	33687261	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:33687261C>A	ENST00000394566.1	-	5	1471		c.e5+1		SLFN11_ENST00000308377.4_Splice_Site	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11							nucleus	ATP binding	p.?(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCATAATTACCTGAAAATAA	0.393000													22	88					5.26018e-13	7.10671e-13	0.234183	1	0
LONP2	83752	broad.mit.edu	37	16	48303939	48303939	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:48303939T>A	ENST00000285737.4	+	7	1088	c.995T>A	c.(994-996)aTt>aAt	p.I332N	LONP2_ENST00000535754.1_Missense_Mutation_p.I288N	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	332					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.I332N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGCCTGGACATTAGGGCAGCC	0.378000													17	164					0	0	0.160694	0	0
INSC	387755	broad.mit.edu	37	11	15260554	15260554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:15260554G>T	ENST00000379554.3	+	11	1514	c.1468G>T	c.(1468-1470)Gct>Tct	p.A490S	INSC_ENST00000379556.3_Missense_Mutation_p.A443S|INSC_ENST00000424273.1_Missense_Mutation_p.A401S|INSC_ENST00000530161.1_Missense_Mutation_p.A443S|INSC_ENST00000528567.1_Missense_Mutation_p.A443S|INSC_ENST00000525218.1_Missense_Mutation_p.A401S|INSC_ENST00000447214.2_3'UTR	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	490					cell differentiation|nervous system development	cytoplasm	binding	p.A490S(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCAGCAGAAAGCTGCAGTGAC	0.602000													16	49					0.00074312	0.000802076	0.175082	1	0
FAM83H	286077	broad.mit.edu	37	8	144808840	144808840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144808840G>T	ENST00000388913.3	-	5	2916	c.2791C>A	c.(2791-2793)Ccg>Acg	p.P931T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	931					biomineral tissue development			p.P931T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCGCTCCGGCACGGGGGGC	0.736000													5	15					0.000602214	0.000654824	0.184627	1	0
UBE4B	10277	broad.mit.edu	37	1	10238755	10238755	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:10238755A>T	ENST00000377157.3	+	25	3905	c.2844A>T	c.(2842-2844)gcA>gcT	p.A948A	UBE4B_ENST00000253251.8_Silent_p.A1064A|UBE4B_ENST00000343090.6_Silent_p.A1193A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1193					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.A1064A(2)|p.A1193A(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCGGAAGGCAGGGATCAAAT	0.453000													11	54					0	0	0.069234	0	0
RGS22	26166	broad.mit.edu	37	8	101075826	101075826	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:101075826C>G	ENST00000360863.6	-	8	1364	c.1170G>C	c.(1168-1170)gaG>gaC	p.E390D	RGS22_ENST00000523437.1_Missense_Mutation_p.E378D|RGS22_ENST00000523287.1_Missense_Mutation_p.E209D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	390					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E390D(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCCAGCGCTCTCATTCTTTG	0.358000													20	155					0	0	0.249174	0	0
ADAD1	132612	broad.mit.edu	37	4	123336740	123336740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:123336740G>T	ENST00000296513.2	+	11	1641	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L	ADAD1_ENST00000388724.2_Missense_Mutation_p.V475L|ADAD1_ENST00000388725.2_Missense_Mutation_p.V468L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	486	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.V486L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGGAGATTGTGGATGGCCT	0.333000													58	165					1.78197e-24	2.9615e-24	0.139131	1	0
NRG1	3084	broad.mit.edu	37	8	31498156	31498156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:31498156C>A	ENST00000520407.1	+	1	886	c.656C>A	c.(655-657)gCg>gAg	p.A219E	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	602	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A219E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACCAGCCGCGCGCCGGCCGCC	0.677000													6	14					3.59834e-05	4.04036e-05	0.217242	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008600	142008600	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142008600C>A	ENST00000390387.3	+	0	120																											AGCTGTTTCCCAGACTCCAAA	0.453000													39	25					7.04047e-22	1.12532e-21	0.225048	1	0
AHSG	197	broad.mit.edu	37	3	186335058	186335058	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:186335058G>C	ENST00000411641.2	+	4	711	c.492G>C	c.(490-492)gcG>gcC	p.A164A	AHSG_ENST00000273784.5_Silent_p.A165A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	164	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.A164A(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCACGCCGCGAAAGCTGCCC	0.592000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	121					0	0	0.108266	0	0
IVL	3713	broad.mit.edu	37	1	152882785	152882785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152882785G>T	ENST00000368764.3	+	2	576	c.512G>T	c.(511-513)gGa>gTa	p.G171V	IVL_ENST00000392667.2_Missense_Mutation_p.G25V			P07476	INVO_HUMAN	involucrin	171	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.G171V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagcaggagggacagctgaag	0.622000													19	25					5.03518e-11	6.56032e-11	0.189662	1	0
TENM3	55714	broad.mit.edu	37	4	183651436	183651436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:183651436C>A	ENST00000511685.1	+	15	2792	c.2669C>A	c.(2668-2670)cCa>cAa	p.P890Q	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P890Q					teneurin transmembrane protein 3									p.P890Q(2)									TTCCATTACCCAGAATATGGA	0.418000													22	72					1.40151e-16	2.0446e-16	0.219247	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709330	176709330	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176709330G>T	ENST00000367662.3	+	14	5313	c.4149G>T	c.(4147-4149)caG>caT	p.Q1383H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1383					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.Q1383H(2)		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						ATCAGGGACAGAGGTACAAAC	0.458000													19	71					5.03518e-11	6.56032e-11	0.189662	1	0
UBE2O	63893	broad.mit.edu	37	17	74395027	74395027	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:74395027C>T	ENST00000319380.7	-	10	1738	c.1674G>A	c.(1672-1674)atG>atA	p.M558I	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	558							ATP binding|ubiquitin-protein ligase activity	p.M558I(4)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CATCCTGCCACATCACGTCGG	0.622000													14	47					0	0	0.225048	0	0
ABCC5	10057	broad.mit.edu	37	3	183667663	183667663	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:183667663C>A	ENST00000334444.6	-	22	3345	c.3105G>T	c.(3103-3105)ctG>ctT	p.L1035L	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1035	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L1035L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTCCCGAATCAGGACCCTGG	0.557000													30	77					8.58068e-18	1.28381e-17	0.125774	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317504	30317504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:30317504G>A	ENST00000375377.1	-	3	1674	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	525								p.Q525*(2)		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						TCAGGCCACTGTCCCCTTGCC	0.632000													65	219					0	0	0.139131	0	0
PRKDC	5591	broad.mit.edu	37	8	48775080	48775080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:48775080C>A	ENST00000314191.2	-	44	5826	c.5770G>T	c.(5770-5772)Gag>Tag	p.E1924*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1924*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1925					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.E1924*(2)|p.E1925*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCATGTTCTCTGTAAATGCA	0.458000								Non-homologous end-joining					7	14					0.0477658	0.0492821	0.047766	1	0
OR10W1	81341	broad.mit.edu	37	11	58034677	58034677	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:58034677C>G	ENST00000395079.2	-	1	1055	c.654G>C	c.(652-654)aaG>aaC	p.K218N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K218N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572000													10	31					0	0	0.119110	0	0
AOX1	316	broad.mit.edu	37	2	201533401	201533401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:201533401C>A	ENST00000374700.2	+	33	3914	c.3673C>A	c.(3673-3675)Cag>Aag	p.Q1225K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1225					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.Q1225K(2)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTATTCTCCCCAGGGCATTCT	0.433000													67	105					9.41865e-53	1.766e-52	0.139131	1	0
KCNH2	3757	broad.mit.edu	37	7	150645550	150645550	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:150645550G>C	ENST00000392968.2	-	9	3506	c.2386C>G	c.(2386-2388)Cgc>Ggc	p.R796G	KCNH2_ENST00000330883.4_Missense_Mutation_p.R552G|KCNH2_ENST00000262186.5_Missense_Mutation_p.R892G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	892					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.R892G(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGCGCCTGCGGAAGGACAAC	0.647000													11	53					0	0	0.080935	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078204	90078204	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:90078204G>T	ENST00000390270.2	+	0	338																											TGGCATCCCAGACAGGTTCAG	0.547000													32	87					2.20262e-25	3.69207e-25	0.173368	1	0
SMPD4	55627	broad.mit.edu	37	2	130910224	130910224	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:130910224C>T	ENST00000409031.1	-	20	3653	c.2505G>A	c.(2503-2505)ggG>ggA	p.G835G	SMPD4_ENST00000443958.2_Silent_p.G499G|SMPD4_ENST00000426662.2_Silent_p.G471G|SMPD4_ENST00000453750.1_Silent_p.G584G|SMPD4_ENST00000351288.6_Silent_p.G806G|SMPD4_ENST00000339679.7_Silent_p.G693G|SMPD4_ENST00000452225.2_Silent_p.G576G|SMPD4_ENST00000431183.2_Silent_p.G733G	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	796					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	p.G835G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGGGAGGGGCCCGACGCAGA	0.667000													4	6					0	0	0.217242	0	0
FAT4	79633	broad.mit.edu	37	4	126337745	126337745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:126337745G>C	ENST00000394329.3	+	6	6999	c.6986G>C	c.(6985-6987)cGc>cCc	p.R2329P	FAT4_ENST00000335110.5_Missense_Mutation_p.R627P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2329	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2329P(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAAGAGCGCTTTGTCTTA	0.428000													64	150					0	0	0.139131	0	0
TBC1D5	9779	broad.mit.edu	37	3	17469948	17469948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:17469948G>A	ENST00000253692.7	-	4	1825	c.161C>T	c.(160-162)tCc>tTc	p.S54F	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S54F|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S54F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	54						intracellular	protein binding|Rab GTPase activator activity	p.S54F(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTACCTATAGGAATTAAAAGT	0.254000													8	34					0	0	0.278610	0	0
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	G	A	rs143761751		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:482774G>A	ENST00000264938.3	-	7	1254	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612000													6	56					0	0	0.217242	0	0
WNT1	7471	broad.mit.edu	37	12	49373354	49373354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:49373354C>A	ENST00000293549.3	+	2	244	c.208C>A	c.(208-210)Cgt>Agt	p.R70S		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	70					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.R70S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAAACAGCGGCGTCTGATACG	0.592000													36	98					9.73076e-26	1.64049e-25	0.246493	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659372	176659372	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176659372A>T	ENST00000367662.3	+	5	3401	c.2237A>T	c.(2236-2238)aAa>aTa	p.K746I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K746I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	746	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.K746I(4)		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						CATGTCTTTAAAGGAGTCAGT	0.547000													57	307					0	0	0.139131	0	0
SHANK1	50944	broad.mit.edu	37	19	51169662	51169662	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51169662G>T	ENST00000293441.1	-	22	5573	c.5555C>A	c.(5554-5556)cCc>cAc	p.P1852H	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1860H|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1239H|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1843H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1852	Poly-Pro.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P1852H(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAGGGCCCGGGCAGAGGTGG	0.677000													10	37					1.08611e-07	1.30467e-07	0.080935	1	0
ZNF114	163071	broad.mit.edu	37	19	48790040	48790040	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:48790040C>T	ENST00000595607.1	+	6	1653	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	ZNF114_ENST00000315849.1_Missense_Mutation_p.P387S|ZNF114_ENST00000597695.1_Missense_Mutation_p.P353S|ZNF114_ENST00000600687.1_Missense_Mutation_p.P387S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P387S(2)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGGAGAGAAACCCTATAAATG	0.408000													41	90					0	0	0.235728	0	0
IL4R	3566	broad.mit.edu	37	16	27374034	27374034	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:27374034A>T	ENST00000395762.2	+	11	1620	c.1361A>T	c.(1360-1362)aAg>aTg	p.K454M	IL4R_ENST00000170630.2_Missense_Mutation_p.K454M|IL4R_ENST00000543915.2_Missense_Mutation_p.K454M|IL4R_ENST00000380922.3_Missense_Mutation_p.K439M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	454	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.K454M(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGGGCCCAAGGAGGCACCT	0.617000													51	86					0	0	0.139131	0	0
MAF1	84232	broad.mit.edu	37	8	145160669	145160669	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:145160669G>T	ENST00000534585.1	+	2	474	c.83_splice	c.e2+1	p.R28_splice	MAF1_ENST00000322428.5_Splice_Site_p.R28_splice|MAF1_ENST00000532522.1_Splice_Site_p.R28_splice			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	28					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.R28M(2)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	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;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCATTGGCAGGTGAGGCAGG	0.562000													23	49					4.15321e-07	4.95843e-07	0.144211	1	0
OR52B4	143496	broad.mit.edu	37	11	4389468	4389468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:4389468G>A	ENST00000408920.2	-	1	148	c.58C>T	c.(58-60)Cct>Tct	p.P20S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P20S(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTAGGCCAGGGATGCCCAGC	0.512000													11	39					0	0	0.093190	0	0
BMP10	27302	broad.mit.edu	37	2	69098254	69098254	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:69098254C>A	ENST00000295379.1	-	1	395	c.237G>T	c.(235-237)gtG>gtT	p.V79V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	79					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.V79V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGGTGGGTCCACCTTGGCTG	0.468000													48	141					4.29476e-34	7.65986e-34	0.139131	1	0
DTX4	23220	broad.mit.edu	37	11	58949495	58949495	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:58949495A>T	ENST00000227451.3	+	2	599	c.495A>T	c.(493-495)acA>acT	p.T165T	DTX4_ENST00000532982.1_Silent_p.T59T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	165					Notch signaling pathway	cytoplasm	zinc ion binding	p.T165T(2)|p.T59T(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCATGGTCACAGGGACCTTGC	0.637000													25	73					0	0	0.264190	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188891	11188891	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:11188891C>T	ENST00000382435.4	+	1	495	c.276C>T	c.(274-276)gaC>gaT	p.D92D		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	92	DUF6 1.					integral to membrane		p.D92D(2)									TGCGTGGCGACCCCCTTCTGG	0.592000													65	285					0	0	0.139131	0	0
SRRM2	23524	broad.mit.edu	37	16	2818263	2818263	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2818263G>T	ENST00000301740.8	+	11	8282		c.e11+1		SRRM2_ENST00000574593.1_Splice_Site	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2							Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.?(2)		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						CACTGAAGAGGTGAGGGAGCT	0.557000													39	42					1.96679e-08	2.40203e-08	0.279185	1	0
DDX58	23586	broad.mit.edu	37	9	32487951	32487951	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:32487951G>A	ENST00000379882.1	-	7	1226	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	DDX58_ENST00000545044.1_Silent_p.L199L|DDX58_ENST00000379868.1_Silent_p.L199L|DDX58_ENST00000542096.1_Silent_p.L331L|DDX58_ENST00000379883.2_Silent_p.L402L			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	402	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.L402L(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ACCTGGGGCAGTGGGCCTGAA	0.403000													37	106					0	0	0.214465	0	0
COL14A1	7373	broad.mit.edu	37	8	121170441	121170441	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:121170441G>C	ENST00000297848.3	+	3	431	c.161G>C	c.(160-162)aGa>aCa	p.R54T	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R54T|COL14A1_ENST00000247781.3_Missense_Mutation_p.R54T|COL14A1_ENST00000537875.1_Missense_Mutation_p.R54T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	54	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R54T(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGCTCCAAGAGGGAAATTT	0.363000													21	57					0	0	0.204396	0	0
ANK2	287	broad.mit.edu	37	4	114274319	114274319	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:114274319C>G	ENST00000357077.4	+	38	4598	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I1482M|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1482					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.I1515M(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGATTTGATCAAAATGACCG	0.458000													27	114					0	0	0.125774	0	0
RSRC2	65117	broad.mit.edu	37	12	122990163	122990163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:122990163G>A	ENST00000331738.7	-	10	1361	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q358*|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	406								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTTCATACTGAGCATCTAAA	0.393000													51	119					0	0	0.139131	0	0
CACNA1E	777	broad.mit.edu	37	1	181708286	181708286	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:181708286A>T	ENST00000526775.1	+	24	3724	c.3559A>T	c.(3559-3561)Ata>Tta	p.I1187L	CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1187L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1206L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1157L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1206L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I813L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1138L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1206					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1206L(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGCAGATGATAGACCAAGG	0.532000													34	185					0	0	0.203993	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982786	42982786	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:42982786C>A	ENST00000418176.1	+	2	2139	c.105C>A	c.(103-105)gcC>gcA	p.A35A	KRBOX1_ENST00000418093.2_3'UTR|KRBOX1_ENST00000383748.4_Silent_p.A35A|KRBOX1_ENST00000426937.1_Silent_p.A35A			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	35	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.A35A(4)		lung(2)	2						TGGTGCCTGCCGAGAGGGCCT	0.537000													6	8					5.18039e-06	6.01295e-06	0.278610	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202436667	202436667	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:202436667A>G	ENST00000439140.1	-	8	874	c.830T>C	c.(829-831)gTg>gCg	p.V277A	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.V277A|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.V277A|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.V277A	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	277								p.V277A(6)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CACTTACGTCACGGGATCTGT	0.348000													25	63					0	0	0.125774	0	0
OR2W1	26692	broad.mit.edu	37	6	29012092	29012092	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:29012092C>A	ENST00000377175.1	-	1	925	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287P(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGTAAATGAGCGGGTTGAGAC	0.423000													15	49					2.61681e-11	3.43237e-11	0.119110	1	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638159	19638159	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:19638159G>T	ENST00000555938.1	+	3	255	c.243G>T	c.(241-243)cgG>cgT	p.R81R	CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000252576.5_Silent_p.R164R|NDUFA13_ENST00000507754.3_Silent_p.R81R|NDUFA13_ENST00000503283.1_Silent_p.R81R|NDUFA13_ENST00000428459.2_Silent_p.R81R														p.R164L(2)									AAACCGACCGGAGGTAGCACC	0.632000													6	39					0.00198382	0.00212163	0.248553	1	0
PRLR	5618	broad.mit.edu	37	5	35084585	35084585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:35084585G>C	ENST00000382002.5	-	5	786	c.360C>G	c.(358-360)gaC>gaG	p.D120E	PRLR_ENST00000310101.5_Missense_Mutation_p.D120E|PRLR_ENST00000397391.3_Missense_Mutation_p.D49E|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000542609.1_Missense_Mutation_p.D120E|PRLR_ENST00000231423.3_Missense_Mutation_p.D120E|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.D120E|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.D120E	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	120	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.D120E(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTAAGTCACGTCCACATAAA	0.438000													84	307					0	0	0.139131	0	0
SKAP1	8631	broad.mit.edu	37	17	46247980	46247980	+	Nonsense_Mutation	SNP	G	G	A	rs142272724		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:46247980G>A	ENST00000336915.6	-	10	937	c.868C>T	c.(868-870)Cga>Tga	p.R290*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.R290*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	290	Interaction with FYB.				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	p.R290*(2)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CCTCCTTTTCGTCGAGTGCCA	0.413000													63	190					0	0	0.139131	0	0
ZNF28	7576	broad.mit.edu	37	19	53311270	53311270	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:53311270C>A	ENST00000457749.2	-	3	251	c.132G>T	c.(130-132)ctG>ctT	p.L44L	ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000594602.1_Silent_p.L44L|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000339844.6_Silent_p.L8L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L44L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGGGAGACCAGGTTCCTAT	0.493000													48	114					1.86633e-21	2.97495e-21	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9071876	9071876	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9071876A>G	ENST00000397910.4	-	3	15773	c.15570T>C	c.(15568-15570)ccT>ccC	p.P5190P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5190P(4)|p.P823P(2)		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						CTCTCAGTCTAGGAGTCAAGA	0.483000													112	241					0	0	0.139131	0	0
OR6X1	390260	broad.mit.edu	37	11	123624331	123624331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:123624331A>G	ENST00000327930.2	-	1	922	c.896T>C	c.(895-897)tTa>tCa	p.L299S		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L299S(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCCTTTCTTAAGGCTCCCTT	0.378000													89	171					0	0	0.139131	0	0
OR2B11	127623	broad.mit.edu	37	1	247614966	247614966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247614966C>A	ENST00000318749.6	-	1	342	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGTGGAAGACTGCATATTGC	0.592000													57	62					2.08929e-35	3.784e-35	0.139131	1	0
ZNF516	9658	broad.mit.edu	37	18	74154334	74154334	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74154334G>A	ENST00000443185.2	-	3	994	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A226V(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCCCCTGCGCGGTGATGTG	0.697000													11	42					0	0	0.093190	0	0
RASA3	22821	broad.mit.edu	37	13	114762162	114762162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:114762162G>C	ENST00000334062.7	-	21	2107	c.1986C>G	c.(1984-1986)tgC>tgG	p.C662W	RASA3_ENST00000389544.4_Missense_Mutation_p.C630W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	662	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.C662W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGGCCTCCACGCAGTTGTTGG	0.607000													16	50					0	0	0.160694	0	0
KCNA4	3739	broad.mit.edu	37	11	30033978	30033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30033978C>T	ENST00000328224.6	-	2	1481	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R83Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCTCCTCCTCCGACTACCCCG	0.637000													29	82					0	0	0.163468	0	0
FSCB	84075	broad.mit.edu	37	14	44976031	44976031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:44976031C>A	ENST00000340446.4	-	1	451	c.160G>T	c.(160-162)Gag>Tag	p.E54*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	54						cilium		p.E54*(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCTGAAGCTCAGAAGATACT	0.413000													69	206					2.81305e-35	5.06349e-35	0.139131	1	0
ATAD3C	219293	broad.mit.edu	37	1	1403796	1403796	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:1403796G>C	ENST00000378785.2	+	12	2117	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	374							ATP binding|nucleoside-triphosphatase activity	p.L374L(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACGGGGTCCTGACCGAGGCCA	0.672000													9	36					0	0	0.080935	0	0
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:12758931C>A	ENST00000381774.4	-	4	997	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Missense_Mutation_p.G111W	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	253							hydrolase activity|metal ion binding	p.G253W(2)|p.G253R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TAGGTACCCCCGGCATTCCTG	0.582000													56	51					2.74224e-37	5.01317e-37	0.139131	1	0
MPPED2	744	broad.mit.edu	37	11	30433103	30433103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30433103G>A	ENST00000358117.5	-	6	919	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	266					nervous system development		hydrolase activity|metal ion binding	p.T266M(3)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTGATGTACGTTGTGTAACC	0.463000													21	76					0	0	0.264190	0	0
KCNA4	3739	broad.mit.edu	37	11	30034116	30034116	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:30034116C>A	ENST00000328224.6	-	2	1343	c.110G>T	c.(109-111)aGg>aTg	p.R37M		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	37						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R37M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGCAGCTGCCCTGGAGTGAGC	0.667000													12	50					1.50039e-11	1.97242e-11	0.234183	1	0
ZBTB47	92999	broad.mit.edu	37	3	42703101	42703101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:42703101C>T	ENST00000457842.3	+	3	1879	c.470C>T	c.(469-471)gCc>gTc	p.A157V	ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79V|ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533V	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A533V(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TACACCATGGCCCACGTGCGT	0.522000													17	52					0	0	0.160694	0	0
NTRK3	4916	broad.mit.edu	37	15	88472600	88472600	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:88472600C>A	ENST00000394480.1	-	17	2276	c.1955G>T	c.(1954-1956)gGg>gTg	p.G652V	NTRK3_ENST00000357724.2_Missense_Mutation_p.G644V|NTRK3_ENST00000557856.1_Missense_Mutation_p.G644V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G644V|NTRK3_ENST00000360948.2_Missense_Mutation_p.G652V|NTRK3_ENST00000355254.2_Missense_Mutation_p.G652V|NTRK3_ENST00000542733.2_Missense_Mutation_p.G554V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G652V(4)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGGAGAGCCCCAGCTCACC	0.612000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			19	23					2.5808e-16	3.74632e-16	0.175082	1	0
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:113657364C>T	ENST00000297405.5	-	20	3528	c.3284G>A	c.(3283-3285)tGg>tAg	p.W1095*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1095*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W991*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1055*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1095	CUB 6.					integral to membrane|plasma membrane		p.W1095*(2)|p.W1055*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAACAGTCCATGTACAATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	52					0	0	0.279207	0	0
JADE2	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:133909338A>G	ENST00000395003.1	+	10	1617	c.1438A>G	c.(1438-1440)Aga>Gga	p.R480G	PHF15_ENST00000402835.1_Intron|PHF15_ENST00000282605.4_Missense_Mutation_p.R480G|PHF15_ENST00000361895.2_Missense_Mutation_p.R480G	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.R480G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512000													64	61					0	0	0.139131	0	0
KRT75	9119	broad.mit.edu	37	12	52827967	52827967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:52827967G>T	ENST00000252245.5	-	1	342	c.122C>A	c.(121-123)gCa>gAa	p.A41E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	41	Gly-rich.|Head.					keratin filament	structural molecule activity	p.A41E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACTCCCTGCTGCAGAGCGGGC	0.667000													10	48					7.93312e-07	9.37551e-07	0.119110	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3447625	3447625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:3447625T>C	ENST00000324266.5	+	6	1688	c.1493T>C	c.(1492-1494)cTg>cCg	p.L498P	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L498P|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	498							binding	p.L498P(2)									CAGGAGTCGCTGGATAGACTG	0.592000													16	41					0	0	0.189662	0	0
ASPM	259266	broad.mit.edu	37	1	197074309	197074309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:197074309A>C	ENST00000367409.4	-	18	4328	c.4072T>G	c.(4072-4074)Tgg>Ggg	p.W1358G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1358	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.W1358G(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATCTTCTCCAATATCCCTGG	0.284000													26	116					0	0	0.279207	0	0
PLK4	10733	broad.mit.edu	37	4	128804445	128804445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:128804445G>T	ENST00000270861.5	+	3	429	c.155G>T	c.(154-156)gGa>gTa	p.G52V	PLK4_ENST00000507249.1_Missense_Mutation_p.G52V|PLK4_ENST00000513090.1_Intron|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Missense_Mutation_p.G52V|PLK4_ENST00000514379.1_Missense_Mutation_p.G11V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	52	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G52V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TACAAAGCAGGAATGGTACAG	0.313000													8	40					0.0581538	0.059789	0.058154	1	0
HMMR	3161	broad.mit.edu	37	5	162909666	162909666	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:162909666C>T	ENST00000416990.2	+	13	1556	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	HMMR_ENST00000393915.4_Silent_p.A468A|HMMR_ENST00000358715.3_Silent_p.A467A|HMMR_ENST00000432118.2_Silent_p.A381A|HMMR_ENST00000353866.3_Silent_p.A452A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	467						cell surface|cytoplasm	hyaluronic acid binding	p.A467A(2)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CGTTAACAGCCAGTGAGATAG	0.348000													17	80					0	0	0.160694	0	0
CACNG7	59284	broad.mit.edu	37	19	54445373	54445373	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54445373C>T	ENST00000391767.1	+	6	866	c.654C>T	c.(652-654)cgC>cgT	p.R218R	CACNG7_ENST00000222212.2_Silent_p.R218R			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	218				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R218R(2)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTTCTACCGCCCGCGTCTCA	0.687000													30	63					0	0	0.144211	0	0
ZNF135	7694	broad.mit.edu	37	19	58579298	58579298	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:58579298C>A	ENST00000506786.1	+	5	1874	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	ZNF135_ENST00000511556.1_Silent_p.T494T|ZNF135_ENST00000439855.2_Silent_p.T482T|ZNF135_ENST00000401053.4_Silent_p.T506T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.T482T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	494					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T506T(2)|p.T482T(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACACCTCACCCAACACCAGC	0.567000													15	62					2.32078e-09	2.90098e-09	0.132662	1	0
ZNF716	441234	broad.mit.edu	37	7	57529052	57529052	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:57529052C>A	ENST00000420713.1	+	4	997	c.885C>A	c.(883-885)ccC>ccA	p.P295P		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.P295P(4)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGAGAAACCCTACACATGTG	0.413000													14	21					9.31168e-06	1.06601e-05	0.105934	1	0
CCT6B	10693	broad.mit.edu	37	17	33266313	33266313	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:33266313T>A	ENST00000314144.5	-	10	1217	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	CCT6B_ENST00000421975.3_Missense_Mutation_p.N331Y|CCT6B_ENST00000436961.3_Missense_Mutation_p.N323Y	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	368					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.N368Y(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAGCAAGGGTTAACACACTCC	0.343000													50	119					0	0	0.139131	0	0
MUC17	140453	broad.mit.edu	37	7	100677932	100677932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:100677932G>A	ENST00000306151.4	+	3	3299	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1079	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1079T(2)		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)					TTATTCTCAAGCCAGTTCATC	0.502000													236	319					0	0	0.139131	0	0
CDH7	1005	broad.mit.edu	37	18	63547735	63547735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:63547735G>T	ENST00000397968.2	+	12	2389	c.1963G>T	c.(1963-1965)Gac>Tac	p.D655Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D655Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D655Y(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGATACGATGACGAGGGCGG	0.493000													35	87					1.90571e-15	2.7125e-15	0.203993	1	0
FCRL5	83416	broad.mit.edu	37	1	157514076	157514076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:157514076G>T	ENST00000361835.3	-	5	977	c.820C>A	c.(820-822)Ccg>Acg	p.P274T	FCRL5_ENST00000356953.4_Missense_Mutation_p.P274T|FCRL5_ENST00000368189.3_Missense_Mutation_p.P274T|FCRL5_ENST00000368190.3_Missense_Mutation_p.P274T|FCRL5_ENST00000368191.3_Missense_Mutation_p.P189T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	274						integral to membrane|plasma membrane	receptor activity	p.P274T(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGATCTCGGGCTGTCAGAT	0.507000													230	120					1.50579e-86	2.88815e-86	0.139131	1	0
AGAP6	414189	broad.mit.edu	37	10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	259					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562000													70	159					1.09065e-72	2.07153e-72	0.139131	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47491246	47491246	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:47491246G>T	ENST00000404338.3	+	3	3827	c.3826_splice	c.e3-1	p.G1276_splice		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1276	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.G1276V(4)									TTCTCCTCAGGACTGAGCACG	0.552000													12	32					5.16669e-11	6.71669e-11	0.080935	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177108	89177108	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:89177108G>T	ENST00000561129.2	+	1	154	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TGIF2LX_ENST00000283891.5_Silent_p.P8P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P8P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGACGGCCCGGCTGAGACCC	0.527000													28	55					3.03874e-20	4.72783e-20	0.183431	1	0
EBF1	1879	broad.mit.edu	37	5	158135059	158135059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:158135059A>G	ENST00000313708.6	-	15	1954	c.1672T>C	c.(1672-1674)Ttc>Ctc	p.F558L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.F490L|EBF1_ENST00000380654.4_Missense_Mutation_p.F527L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	558					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.F558L(2)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGTGCGAAAGCACTCTTC	0.622000			T	HMGA2	lipoma								8	9					0	0	0.069234	0	0
KCNU1	157855	broad.mit.edu	37	8	36691143	36691143	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:36691143C>G	ENST00000399881.3	+	11	1215	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	393	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S393C(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTTCTGGATCTGCAATGAAG	0.398000													10	61					0	0	0.069234	0	0
RUNX3	864	broad.mit.edu	37	1	25291042	25291042	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:25291042G>A	ENST00000399916.1	-	1	459	c.21C>T	c.(19-21)ttC>ttT	p.F7F	RUNX3_ENST00000338888.3_Silent_p.F7F	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	252					cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.F7F(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGAAGGAGTCGAAGATGCTGT	0.587000													5	19					0	0	0.217242	0	0
SCRIB	23513	broad.mit.edu	37	8	144886067	144886067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:144886067C>A	ENST00000356994.2	-	23	3170	c.3164G>T	c.(3163-3165)gGg>gTg	p.G1055V	SCRIB_ENST00000377533.3_Missense_Mutation_p.G974V|SCRIB_ENST00000320476.3_Missense_Mutation_p.G1055V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1055	Interaction with ARHGEF7.|PDZ 3.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.G1055V(4)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GATGCGGTCCCCAACCCGCAG	0.711000													11	11					2.27111e-07	2.72254e-07	0.093190	1	0
THEMIS	387357	broad.mit.edu	37	6	128134882	128134882	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:128134882G>C	ENST00000368250.1	-	5	1165	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	THEMIS_ENST00000543064.1_Missense_Mutation_p.Q302E|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q267E|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q302E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	302	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q302E(2)		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						TTCCCAGGCTGTAAAATGCTT	0.398000													61	98					0	0	0.139131	0	0
SMARCC1	6599	broad.mit.edu	37	3	47663809	47663809	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:47663809C>G	ENST00000254480.5	-	25	2788	c.2669G>C	c.(2668-2670)aGa>aCa	p.R890T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	890					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.R890T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTGATCTTTCTTTCTTCCAC	0.378000													54	151					0	0	0.139131	0	0
PLXNC1	10154	broad.mit.edu	37	12	94613897	94613897	+	Silent	SNP	C	C	A	rs146510015		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:94613897C>A	ENST00000258526.4	+	6	1909	c.1660C>A	c.(1660-1662)Cgg>Agg	p.R554R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	554					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.R554R(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGCCCAACCGGACCTGCAC	0.458000													43	179					8.01111e-26	1.35448e-25	0.290176	1	0
NELL1	4745	broad.mit.edu	37	11	21592424	21592424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:21592424G>T	ENST00000298925.5	+	19	2332	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.G642C|NELL1_ENST00000532434.1_Missense_Mutation_p.G652C|NELL1_ENST00000357134.5_Missense_Mutation_p.G699C			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	699	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G699C(2)|p.G699S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGACCAAAATGGTCACAAGCT	0.473000													39	118					1.69901e-12	2.25379e-12	0.225048	1	0
ACSL5	51703	broad.mit.edu	37	10	114169302	114169302	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:114169302G>T	ENST00000393081.1	+	7	877	c.570G>T	c.(568-570)aaG>aaT	p.K190N	ACSL5_ENST00000356116.1_Missense_Mutation_p.K246N|ACSL5_ENST00000354273.4_Missense_Mutation_p.K190N|ACSL5_ENST00000354655.4_Missense_Mutation_p.K190N|ACSL5_ENST00000433418.1_Missense_Mutation_p.K190N	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	190					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.K246N(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCCAAAAGGCATTGGTGC	0.498000													33	115					1.99505e-19	3.05525e-19	0.163468	1	0
OXT	5020	broad.mit.edu	37	20	3052311	3052311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3052311C>A	ENST00000217386.2	+	1	46	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	4					signal transduction		neurohypophyseal hormone activity	p.P4T(2)		lung(2)	2					Oxytocin(DB00107)	CATGGCCGGCCCCAGCCTCGC	0.692000													4	10					1.12685e-05	1.28501e-05	0.047766	1	0
CA10	56934	broad.mit.edu	37	17	49731069	49731069	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:49731069A>T	ENST00000451037.2	-	5	1434	c.494T>A	c.(493-495)cTa>cAa	p.L165Q	CA10_ENST00000442502.2_Missense_Mutation_p.L165Q|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.L171Q|CA10_ENST00000570565.1_Missense_Mutation_p.L90Q|CA10_ENST00000285273.4_Missense_Mutation_p.L165Q	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	165					brain development			p.L165Q(2)		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)			ATTCGTATATAGCTCATGGTT	0.408000													18	62					0	0	0.204396	0	0
PZP	5858	broad.mit.edu	37	12	9333633	9333633	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:9333633A>T	ENST00000261336.2	-	15	1813	c.1785T>A	c.(1783-1785)gcT>gcA	p.A595A	PZP_ENST00000381997.2_Silent_p.A464A	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.A595A(2)|p.A464A(2)		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						TTTGGTCCACAGCACGAAGGG	0.592000													17	53					0	0	0.189662	0	0
ABCA10	10349	broad.mit.edu	37	17	67186584	67186584	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:67186584C>A	ENST00000269081.4	-	19	2955	c.2046G>T	c.(2044-2046)caG>caT	p.Q682H	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	682					transport	integral to membrane	ATP binding|ATPase activity	p.Q682H(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCTTATGCCCTGGTCAGAAC	0.318000													17	68					6.49762e-13	8.67833e-13	0.175082	1	0
AHRR	57491	broad.mit.edu	37	5	434430	434430	+	Silent	SNP	G	G	A	rs111334085		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:434430G>A	ENST00000316418.5	+	12	1685	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P	AHRR_ENST00000505113.1_Silent_p.P529P|AHRR_ENST00000506456.1_Silent_p.P385P|AHRR_ENST00000512529.1_Silent_p.P375P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.P543P(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTGTGGTCCGACGCTGCTGC	0.622000													24	68					0	0	0.264190	0	0
OR2L13	284521	broad.mit.edu	37	1	248263249	248263249	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:248263249C>A	ENST00000366478.2	+	3	909	c.572C>A	c.(571-573)aCt>aAt	p.T191N	OR2L13_ENST00000358120.2_Missense_Mutation_p.T191N	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.T191N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGTACAGATACTTGGGTCTAT	0.453000													6	306					4.096e-09	5.07661e-09	0.217242	1	0
BBS10	79738	broad.mit.edu	37	12	76740022	76740022	+	Silent	SNP	C	C	G	rs150530553		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:76740022C>G	ENST00000393262.3	-	2	1826	c.1743G>C	c.(1741-1743)ccG>ccC	p.P581P		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	581					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.P581P(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TACCCATATTCGGTAACTTAC	0.373000									Bardet-Biedl syndrome				36	95					0	0	0.214465	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786508	22786508	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr22:22786508C>T	ENST00000390301.2	+	0	98																											GTCCTGGGCCCAGTCTGTGCT	0.562000											OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	36					0	0	0.125774	0	0
SLC24A3	57419	broad.mit.edu	37	20	19674054	19674054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:19674054C>A	ENST00000328041.6	+	13	1673	c.1476C>A	c.(1474-1476)taC>taA	p.Y492*	RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000593770.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	492						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.Y492*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTCTCCTACATGATGGTGT	0.488000													24	75					1.10513e-12	1.46932e-12	0.249174	1	0
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:32209435C>A	ENST00000396193.1	-	3	863	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Q90H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTATCCAGCTGTGGCAATT	0.483000													58	66					1.60673e-49	2.98392e-49	0.139131	1	0
ERBB4	2066	broad.mit.edu	37	2	212578346	212578346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:212578346C>A	ENST00000342788.4	-	8	1221	c.911G>T	c.(910-912)tGt>tTt	p.C304F	ERBB4_ENST00000436443.1_Missense_Mutation_p.C304F|ERBB4_ENST00000402597.1_Missense_Mutation_p.C304F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	304	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	p.C304F(2)		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)		GGCACGCACACAAGAACTGGA	0.358000										TSP Lung(8;0.080)			21	37					4.54149e-19	6.9007e-19	0.249174	1	0
TCF23	150921	broad.mit.edu	37	2	27372190	27372190	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:27372190A>T	ENST00000296096.5	+	1	319	c.189A>T	c.(187-189)cgA>cgT	p.R63R	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	63					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.R63R(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCCCTCGAGGGACCAGGG	0.632000													5	17					0	0	0.217242	0	0
CCDC171	203238	broad.mit.edu	37	9	15591483	15591483	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:15591483A>T	ENST00000380701.3	+	5	800	c.472A>T	c.(472-474)Atg>Ttg	p.M158L	CCDC171_ENST00000535968.1_Missense_Mutation_p.M158L|CCDC171_ENST00000297641.3_Missense_Mutation_p.M158L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	158	Glu-rich.							p.M158L(1)									AAGAGACAATATGATCCAAAA	0.318000													5	113					0	0	0.217242	0	0
NUP155	9631	broad.mit.edu	37	5	37341209	37341209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:37341209C>A	ENST00000231498.3	-	11	1432	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	NUP155_ENST00000513532.1_Missense_Mutation_p.R410I|NUP155_ENST00000381843.2_Missense_Mutation_p.R351I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.R410I(2)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAAGAGCTCTATGTACTTT	0.353000													16	58					1.5739e-10	2.02358e-10	0.146539	1	0
IRAK3	11213	broad.mit.edu	37	12	66620547	66620547	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:66620547A>T	ENST00000261233.4	+	7	1119	c.698A>T	c.(697-699)gAg>gTg	p.E233V	IRAK3_ENST00000457197.2_Missense_Mutation_p.E172V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	233	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.E233V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTTTACAGAGACTGAGAAG	0.348000													18	77					0	0	0.204396	0	0
KRT3	3850	broad.mit.edu	37	12	53189613	53189613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:53189613C>A	ENST00000417996.2	-	1	288	c.214G>T	c.(214-216)Gct>Tct	p.A72S	KRT3_ENST00000309505.3_Missense_Mutation_p.A72S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	72	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.A72S(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCGCCAGCTGCCACGCTG	0.657000													42	102					2.56175e-15	3.61986e-15	0.139131	1	0
RELN	5649	broad.mit.edu	37	7	103137039	103137039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:103137039G>T	ENST00000428762.1	-	56	9286	c.9127C>A	c.(9127-9129)Ctg>Atg	p.L3043M	RELN_ENST00000343529.5_Missense_Mutation_p.L3043M|RELN_ENST00000424685.2_Missense_Mutation_p.L3043M|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3043					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.L3043M(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGTTGTCCAGTGCCCACTGA	0.468000													70	45					2.94884e-30	5.18039e-30	0.139131	1	0
L1TD1	54596	broad.mit.edu	37	1	62675610	62675610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:62675610T>A	ENST00000498273.1	+	4	1459	c.1164T>A	c.(1162-1164)gaT>gaA	p.D388E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	388	Glu-rich.							p.D388E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGCTGGATGAAGAGGCCT	0.488000													24	66					0	0	0.294199	0	0
CMTR2	55783	broad.mit.edu	37	16	71318653	71318653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71318653C>A	ENST00000338099.5	-	3	1507	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E391*			Q8IYT2	FTSJ1_HUMAN		391						integral to membrane	methyltransferase activity|nucleic acid binding	p.E391*(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCAGCTTTTCTTGTTCCGCC	0.313000													23	39					9.95505e-16	1.42042e-15	0.249174	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147914552	147914552	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:147914552C>G	ENST00000361727.3	+	19	3699	c.3183C>G	c.(3181-3183)ccC>ccG	p.P1061P	CNTNAP2_ENST00000538075.1_Silent_p.P120P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1061P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGGCGCCCTGCATTCTCC	0.567000										HNSCC(39;0.1)			52	126					0	0	0.139131	0	0
HR	55806	broad.mit.edu	37	8	21977932	21977932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:21977932G>A	ENST00000381418.4	-	12	4179	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	HR_ENST00000312841.8_Missense_Mutation_p.A900V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	900							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.A900V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGCTCAGCGCCTGCACCTG	0.632000													44	133					0	0	0.131918	0	0
HMP19	51617	broad.mit.edu	37	5	173491286	173491286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:173491286A>T	ENST00000303177.3	+	3	443	c.181A>T	c.(181-183)Aag>Tag	p.K61*	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Nonsense_Mutation_p.K61*	NM_015980.4	NP_057064.1												p.K61*(2)									GAACAAAGGGAAGTTCCGGGT	0.463000													44	54					0	0	0.279185	0	0
AMACR	23600	broad.mit.edu	37	5	33989433	33989433	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:33989433T>A	ENST00000335606.6	-	5	1002	c.914A>T	c.(913-915)cAt>cTt	p.H305L	AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.H290L|AMACR_ENST00000382085.3_Missense_Mutation_p.H305L|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	305					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	p.H305L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTGATCATGATGAACAACCTC	0.532000													60	69					0	0	0.139131	0	0
LPPR4	9890	broad.mit.edu	37	1	99771388	99771388	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:99771388A>G	ENST00000370185.3	+	7	1611	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	LPPR4_ENST00000457765.1_Missense_Mutation_p.T314A|LPPR4_ENST00000370184.1_Missense_Mutation_p.T214A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		372							phosphatidate phosphatase activity	p.T372A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATTGCTCATACAGAAGGCAT	0.468000													32	96					0	0	0.153744	0	0
WDR81	124997	broad.mit.edu	37	17	1640949	1640949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:1640949A>T	ENST00000409644.1	+	10	5796	c.5796A>T	c.(5794-5796)tcA>tcT	p.S1932S	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Silent_p.S729S|WDR81_ENST00000446363.1_Silent_p.S571S|WDR81_ENST00000309182.5_Silent_p.S881S|WDR81_ENST00000545662.1_Silent_p.S563S|WDR81_ENST00000419248.1_Silent_p.S705S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	705								p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTGGGCTCAGACAACGGGG	0.652000													14	21					0	0	0.175082	0	0
OVCH1	341350	broad.mit.edu	37	12	29597135	29597135	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:29597135A>T	ENST00000318184.5	-	24	2959	c.2960T>A	c.(2959-2961)cTg>cAg	p.L987Q	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	987					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L987Q(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGCTTGGTCAGAAGAACATC	0.418000													76	188					0	0	0.139131	0	0
MED23	9439	broad.mit.edu	37	6	131937143	131937143	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:131937143C>A	ENST00000403834.3	-	10	954		c.e10-1		MED23_ENST00000540546.1_Splice_Site|MED23_ENST00000368053.4_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000539158.1_Splice_Site|MED23_ENST00000368068.3_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CAAACAGATCCTTTAAAGAAA	0.338000													15	29					6.72482e-11	8.70359e-11	0.132662	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181953	140181953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140181953C>A	ENST00000522353.2	+	1	1171	c.1171C>A	c.(1171-1173)Ccc>Acc	p.P391T	PCDHA3_ENST00000532566.2_Missense_Mutation_p.P391T|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.P391T(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGACGCCCCACGTCCC	0.567000													42	188					6.86731e-36	1.25152e-35	0.246493	1	0
SIDT2	51092	broad.mit.edu	37	11	117058369	117058369	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:117058369T>A	ENST00000324225.4	+	12	1644	c.1113T>A	c.(1111-1113)ggT>ggA	p.G371G	SIDT2_ENST00000431081.2_Silent_p.G375G	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	371						integral to membrane|lysosomal membrane		p.G371G(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTACCGATGGTCTGGTTGACA	0.612000													28	56					0	0	0.153744	0	0
OR11H6	122748	broad.mit.edu	37	14	20692109	20692109	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:20692109C>A	ENST00000315519.2	+	1	319	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTACATCCTTCTGGGAAACTT	0.463000													39	75					6.03168e-27	1.03174e-26	0.214465	1	0
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:56459349G>T	ENST00000291971.3	+	1	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W27C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	27						cytoplasm	ATP binding	p.W27C(2)|p.W27*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCGCCCTGGACATTCTCTT	0.512000													36	108					1.04352e-10	1.34462e-10	0.193644	1	0
CHST4	10164	broad.mit.edu	37	16	71571552	71571552	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71571552C>A	ENST00000338482.5	+	3	1315	c.972C>A	c.(970-972)gcC>gcA	p.A324A	CHST4_ENST00000539698.3_Silent_p.A324A|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Silent_p.A324A|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	324					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.A324A(2)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACACAAATGCCAGGGATGCCC	0.522000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	34					9.95505e-16	1.42042e-15	0.249174	1	0
VIT	5212	broad.mit.edu	37	2	37000953	37000953	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:37000953C>T	ENST00000379242.3	+	8	1001	c.699C>T	c.(697-699)acC>acT	p.T233T	VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Silent_p.T233T|VIT_ENST00000389975.3_Silent_p.T233T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Silent_p.T233T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	233						proteinaceous extracellular matrix		p.T233T(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACTGCCACCTACACAAGCA	0.403000													6	19					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179642042	179642042	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179642042C>A	ENST00000589042.1	-	27	4872	c.4648G>T	c.(4648-4650)Gtg>Ttg	p.V1550L	TTN_ENST00000360870.5_Missense_Mutation_p.V1550L|TTN_ENST00000359218.5_Missense_Mutation_p.V1504L|TTN_ENST00000591111.1_Missense_Mutation_p.V1550L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V1550L|TTN_ENST00000342175.6_Missense_Mutation_p.V1504L|TTN_ENST00000460472.2_Missense_Mutation_p.V1504L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1550							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V1504L(6)|p.V1550L(6)		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)			TGATGTTCCACAGCTGAAAGA	0.348000													31	61					5.77227e-19	8.74813e-19	0.134883	1	0
HGF	3082	broad.mit.edu	37	7	81331986	81331986	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:81331986G>T	ENST00000222390.5	-	18	2324	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	HGF_ENST00000457544.2_Missense_Mutation_p.P695T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	700	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P700T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGACGATTTGGAATGGCACAT	0.398000													59	58					2.43698e-19	3.72228e-19	0.139131	1	0
AK5	26289	broad.mit.edu	37	1	77987585	77987585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:77987585G>T	ENST00000344720.5	+	12	2333	c.1307G>T	c.(1306-1308)gGc>gTc	p.G436V	AK5_ENST00000354567.2_Missense_Mutation_p.G462V	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	462					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.G462V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTGATTGACGGCTATCCTCGG	0.577000													18	54					4.96729e-08	6.02876e-08	0.204396	1	0
VDR	7421	broad.mit.edu	37	12	48238559	48238559	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:48238559C>A	ENST00000229022.3	-	11	1535	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	VDR_ENST00000535672.1_Silent_p.V386V|VDR_ENST00000549336.1_Silent_p.V418V|VDR_ENST00000395324.2_Silent_p.V418V|VDR_ENST00000550325.1_Silent_p.V468V	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	418	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	p.V418V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACACTTCGAGCACAAGGGGCG	0.632000													23	83					1.85244e-09	2.32549e-09	0.279207	1	0
ABCA13	154664	broad.mit.edu	37	7	48550739	48550739	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:48550739A>T	ENST00000435803.1	+	51	13608	c.13584A>T	c.(13582-13584)acA>acT	p.T4528T	ABCA13_ENST00000544596.1_Silent_p.T258T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4528					transport	integral to membrane	ATP binding|ATPase activity	p.T4473T(2)|p.T4528T(2)		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						TCCAGTTAACAGCTTTTACTT	0.458000													29	87					0	0	0.144211	0	0
PRRC1	133619	broad.mit.edu	37	5	126859188	126859188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:126859188G>C	ENST00000442138.2	+	2	163	c.17G>C	c.(16-18)gGa>gCa	p.G6A	PRRC1_ENST00000296666.8_Missense_Mutation_p.G6A|PRRC1_ENST00000512635.2_Missense_Mutation_p.G6A			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	6						Golgi apparatus		p.G6A(2)		endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAAGAGAGTGGAATAGAGACA	0.378000													12	45					0	0	0.080935	0	0
GPM6A	2823	broad.mit.edu	37	4	176573023	176573023	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:176573023A>T	ENST00000280187.7	-	5	548	c.503T>A	c.(502-504)gTg>gAg	p.V168E	GPM6A_ENST00000506894.1_Missense_Mutation_p.V157E|GPM6A_ENST00000515090.1_Missense_Mutation_p.V161E|GPM6A_ENST00000393658.2_Missense_Mutation_p.V168E	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	168						cell surface|integral to membrane		p.V168E(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TGCTCCCTCCACTAATGTGGT	0.458000													33	74					0	0	0.183431	0	0
MMP26	56547	broad.mit.edu	37	11	5011855	5011855	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:5011855G>A	ENST00000380390.1	+	4	564	c.348G>A	c.(346-348)aaG>aaA	p.K116K	MMP26_ENST00000300762.1_Silent_p.K116K			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	116					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K116K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGATATGAAGCCATCCGCAG	0.388000													15	90					0	0	0.132662	0	0
GPR128	84873	broad.mit.edu	37	3	100328780	100328780	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:100328780T>A	ENST00000273352.3	+	1	348	c.80T>A	c.(79-81)cTg>cAg	p.L27Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	27					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L27Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTTTGGGACTGGGCATCTGG	0.517000													41	76					0	0	0.290176	0	0
C14orf93	60686	broad.mit.edu	37	14	23468201	23468201	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:23468201G>A	ENST00000299088.6	-	2	461	c.32C>T	c.(31-33)cCt>cTt	p.P11L	RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.P11L|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Missense_Mutation_p.P11L|C14orf93_ENST00000397382.4_Missense_Mutation_p.P11L|C14orf93_ENST00000341470.4_Missense_Mutation_p.P11L	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	11						extracellular region		p.P11L(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCCACTGGGAGGGGAGAAGAG	0.592000													25	92					0	0	0.193644	0	0
TLX3	30012	broad.mit.edu	37	5	170736451	170736451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:170736451G>T	ENST00000296921.5	+	1	164	c.82G>T	c.(82-84)Gac>Tac	p.D28Y		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D28Y(1)		central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAACAGCCCGGACCAGGACAG	0.766000			T	BCL11B	T-ALL								5	17					5.18039e-06	6.01295e-06	0.278610	1	0
NALCN	259232	broad.mit.edu	37	13	101997748	101997748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:101997748G>T	ENST00000251127.6	-	7	749	c.668C>A	c.(667-669)gCt>gAt	p.A223D	NALCN_ENST00000376196.3_Missense_Mutation_p.A223D|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	223						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.A223D(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCTGGAATAGCTAAACTATT	0.398000													38	113					5.04308e-16	7.30248e-16	0.235728	1	0
TMEM2	23670	broad.mit.edu	37	9	74300223	74300223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:74300223C>A	ENST00000377044.4	-	24	4581	c.4042G>T	c.(4042-4044)Gtg>Ttg	p.V1348L	TMEM2_ENST00000396272.3_Missense_Mutation_p.V341L|TMEM2_ENST00000377066.5_Missense_Mutation_p.V1285L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1348						integral to membrane		p.V1348L(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTCAAGCACCCCAAGGCCC	0.443000													34	77					9.78485e-24	1.61699e-23	0.173368	1	0
FSCB	84075	broad.mit.edu	37	14	44974151	44974151	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:44974151A>T	ENST00000340446.4	-	1	2331	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	680	Ala-rich.					cilium		p.A680A(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTGAACTTCAGCAGGGGCCT	0.612000													14	61					0	0	0.146539	0	0
C5orf42	65250	broad.mit.edu	37	5	37184936	37184936	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:37184936C>G	ENST00000274258.7	-	25	4665	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1479Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1479Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1479										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GACAAAGCTTCAGAGAACGTA	0.393000													5	174					0	0	0.184627	0	0
ADORA1	134	broad.mit.edu	37	1	203134620	203134620	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:203134620C>T	ENST00000367236.4	+	3	1494	c.573C>T	c.(571-573)ccC>ccT	p.P191P	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.P191P|ADORA1_ENST00000337894.4_Silent_p.P191P|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	191					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.P191P(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGGTGCTGCCCCCGCTTCTCC	0.567000													17	148					0	0	0.189662	0	0
SEMA7A	8482	broad.mit.edu	37	15	74707191	74707191	+	Silent	SNP	C	C	T	rs147975982		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:74707191C>T	ENST00000261918.4	-	9	1631	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SEMA7A_ENST00000543145.2_Silent_p.P347P|SEMA7A_ENST00000542748.1_Silent_p.P196P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	361	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.P361P(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCCAGGCCGCGGGTTGGGAA	0.627000													6	74					0	0	0.248553	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053711	35053711	+	Missense_Mutation	SNP	G	G	T	rs143845391		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:35053711G>T	ENST00000360359.3	+	22	3439	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1101						cytoplasm	protein binding	p.A1101S(1)|p.A427S(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGAAATCCGCAGTACGTGG	0.622000													5	28					1.23904e-05	1.40745e-05	0.184627	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395969	38395969	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:38395969A>G	ENST00000377698.3	+	2	377	c.224A>G	c.(223-225)gAt>gGt	p.D75G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GACCGGGCTGATGTGGATCGG	0.642000													35	134					0	0	0.290176	0	0
KDM5B	10765	broad.mit.edu	37	1	202699059	202699059	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:202699059C>G	ENST00000367265.3	-	26	5437	c.4273G>C	c.(4273-4275)Gaa>Caa	p.E1425Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1461Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1425					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E1425Q(2)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTAACTCGTTCCCACCGCTCA	0.478000													158	123					0	0	0.139131	0	0
HNF4A	3172	broad.mit.edu	37	20	43034856	43034856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:43034856C>A	ENST00000316099.3	+	2	363	c.274C>A	c.(274-276)Cac>Aac	p.H92N	HNF4A_ENST00000415691.1_Missense_Mutation_p.H92N|HNF4A_ENST00000457232.1_Missense_Mutation_p.H70N|HNF4A_ENST00000443598.2_Missense_Mutation_p.H92N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	92					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.H92N(4)|p.H70N(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGAAGAACCACATGTACTC	0.607000													16	43					2.32078e-09	2.90098e-09	0.132662	1	0
UBE3B	89910	broad.mit.edu	37	12	109936051	109936051	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:109936051T>C	ENST00000342494.3	+	11	1428	c.833T>C	c.(832-834)tTa>tCa	p.L278S	UBE3B_ENST00000434735.2_Missense_Mutation_p.L278S|UBE3B_ENST00000280774.5_Missense_Mutation_p.L278S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.L278S(2)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCACTGTTTTAGAATCCCAT	0.413000													56	135					0	0	0.139131	0	0
AIDA	64853	broad.mit.edu	37	1	222849448	222849448	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:222849448A>T	ENST00000340020.6	-	7	779	c.573T>A	c.(571-573)gtT>gtA	p.V191V	AIDA_ENST00000541237.1_Silent_p.V167V|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Intron	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	191	Axin-binding (By similarity).				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CCTTTACACTAACTGTAATAT	0.398000													5	118					0	0	0.184627	0	0
GRSF1	2926	broad.mit.edu	37	4	71691024	71691024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:71691024C>A	ENST00000254799.6	-	8	1499	c.1382G>T	c.(1381-1383)cGg>cTg	p.R461L	GRSF1_ENST00000545193.1_Missense_Mutation_p.R343L|GRSF1_ENST00000502323.1_Missense_Mutation_p.R299L|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.R299L	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	461	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R461L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AACGTGGGACCGATCCTTGAG	0.443000													21	20					2.39556e-15	3.39323e-15	0.264190	1	0
FMNL1	752	broad.mit.edu	37	17	43320574	43320574	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:43320574C>A	ENST00000331495.3	+	17	2436	c.2100C>A	c.(2098-2100)gcC>gcA	p.A700A	FMNL1_ENST00000328118.3_Silent_p.A700A|FMNL1_ENST00000587489.1_Silent_p.A278A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	700	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.A700A(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTAAGGCAGCCCAGAAGGCCC	0.597000													40	115					3.09479e-21	4.90637e-21	0.246493	1	0
BSN	8927	broad.mit.edu	37	3	49691797	49691797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:49691797C>T	ENST00000296452.4	+	5	4922	c.4808C>T	c.(4807-4809)tCt>tTt	p.S1603F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1603					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.S1603F(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGAGTGTGTCTCAGCTGCCC	0.642000													16	50					0	0	0.160694	0	0
SETMAR	6419	broad.mit.edu	37	3	4358118	4358118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:4358118G>T	ENST00000358065.4	+	3	1310	c.1243G>T	c.(1243-1245)Gac>Tac	p.D415Y	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.D276Y	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	402	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	p.D402Y(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		agttgacaacgaccagttgag	0.468000								Chromatin Structure					6	3					0.00198382	0.00212163	0.248553	1	0
CRB1	23418	broad.mit.edu	37	1	197390141	197390141	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:197390141G>A	ENST00000367400.3	+	6	1318	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.E395K|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.E283K|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.E94K|CRB1_ENST00000535699.1_Missense_Mutation_p.E326K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	395	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E395K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCCACTGCGAAGAAGACGT	0.343000													32	233					0	0	0.193644	0	0
DPP6	1804	broad.mit.edu	37	7	153584797	153584797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:153584797C>T	ENST00000404039.1	+	1	616	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A10V(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCAAGACCGCTAAGATGCAG	0.577000													13	47					0	0	0.160694	0	0
PTPRN2	5799	broad.mit.edu	37	7	157997861	157997861	+	Splice_Site	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:157997861A>C	ENST00000389413.3	-	4	484		c.e4+1		PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000389418.4_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCACACTTACCTGGCTGGG	0.488000													21	63					0	0	0.279207	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081590	143081590	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:143081590G>A	ENST00000367603.2	-	9	6577	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S	HIVEP2_ENST00000367604.1_Silent_p.S1945S|HIVEP2_ENST00000012134.2_Silent_p.S1945S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1945S(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCACAGGCAAGGAGGAGAATC	0.463000													18	89					0	0	0.175082	0	0
FLNA	2316	broad.mit.edu	37	X	153588257	153588257	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:153588257G>C	ENST00000422373.1	-	23	4070	c.3822C>G	c.(3820-3822)gcC>gcG	p.A1274A	FLNA_ENST00000369850.3_Silent_p.A1274A|FLNA_ENST00000360319.4_Silent_p.A1274A|FLNA_ENST00000344736.4_Silent_p.A1274A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1274					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A1274A(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGTGGTGGCCTCACGGA	0.657000													43	62					0	0	0.279185	0	0
EPHX1	2052	broad.mit.edu	37	1	226016497	226016497	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:226016497A>C	ENST00000366837.4	+	2	263	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q	EPHX1_ENST00000272167.5_Missense_Mutation_p.K23Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	23					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.K23Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCGGGACAAAGAGGAAAC	0.562000													48	57					0	0	0.139131	0	0
SYT11	23208	broad.mit.edu	37	1	155851156	155851156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:155851156G>A	ENST00000368324.4	+	4	1406	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	SYT11_ENST00000539162.1_Missense_Mutation_p.D78N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	385	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D385N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TATCGACTTCGATCGCACCAC	0.542000													46	793					0	0	0.139131	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567728	99567728	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:99567728G>C	ENST00000331335.5	-	5	3262	c.2792C>G	c.(2791-2793)aCg>aGg	p.T931R	FILIP1L_ENST00000471562.1_Missense_Mutation_p.T691R|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T507R|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T931R|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T691R|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	931						cytoplasm|membrane|myosin complex|nucleus		p.T931R(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGCAGTACTCGTGTAAGAGTG	0.473000													105	301					0	0	0.139131	0	0
NBPF1	55672	broad.mit.edu	37	1	16892902	16892902	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:16892902C>A	ENST00000430580.2	-	26	3779		c.e26+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 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)		CTCAAAGTTACCTGGGGCATG	0.413000													17	978					1.22574e-08	1.50959e-08	0.249174	1	0
MMP17	4326	broad.mit.edu	37	12	132335487	132335487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:132335487C>T	ENST00000360564.1	+	10	1582	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	MMP17_ENST00000535004.1_Missense_Mutation_p.R34C|MMP17_ENST00000535291.1_Missense_Mutation_p.R410C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	494	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R494C(2)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTACTTCTTCCGTGGCCAGGA	0.657000													12	37					0	0	0.132662	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090337	238090337	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:238090337C>G	ENST00000450451.1	+	0	1843					NR_027247.2																						CCTGAAGTACCCCATTGAGCA	0.607000													19	22					0	0	0.189662	0	0
NUDT16	131870	broad.mit.edu	37	3	131101022	131101022	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:131101022G>A	ENST00000359850.3	+	2	311	c.172G>A	c.(172-174)Gag>Aag	p.E58K	NUDT16_ENST00000537561.1_Missense_Mutation_p.E45K|NUDT16_ENST00000521288.1_Missense_Mutation_p.E91K|NUDT16_ENST00000502852.1_Missense_Mutation_p.E91K	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	91	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	p.E58K(2)		large_intestine(1)|lung(6)	7						TTTCCGCGTGGAGCGCACTGA	0.672000													16	42					0	0	0.173368	0	0
NCF1B	654816	broad.mit.edu	37	7	72645953	72645953	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:72645953G>A	ENST00000423083.1	+	0	988					NR_003186.1																						GACGGCTGGTGGGTCATCAGG	0.612000													30	28					0	0	0.153744	0	0
MED12L	116931	broad.mit.edu	37	3	151101922	151101922	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:151101922G>A	ENST00000474524.1	+	33	4775	c.4737G>A	c.(4735-4737)acG>acA	p.T1579T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.T1439T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1579					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.T1579T(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAATGGAACGTTAGCCTCTG	0.353000													6	109					0	0	0.217242	0	0
ZNF23	7571	broad.mit.edu	37	16	71482343	71482343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:71482343C>A	ENST00000393539.2	-	6	2398	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	ZNF23_ENST00000357254.4_Nonsense_Mutation_p.E529*|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.E471*|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.E529*|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Nonsense_Mutation_p.E471*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E529*(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAAGGTTTCTCCCCAGTATGT	0.418000													39	52					3.21399e-22	5.1512e-22	0.214465	1	0
GAREM	64762	broad.mit.edu	37	18	29867330	29867330	+	Silent	SNP	C	C	A	rs146498252		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:29867330C>A	ENST00000399218.4	-	4	1285	c.1230G>T	c.(1228-1230)ggG>ggT	p.G410G	GAREM_ENST00000269209.6_Silent_p.G410G	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.G410G(2)									CCCAATCTCCCCCCAGGTCCC	0.537000													31	113					2.61193e-14	3.61225e-14	0.144211	1	0
LAMA1	284217	broad.mit.edu	37	18	7015801	7015801	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:7015801A>T	ENST00000389658.3	-	22	3139	c.3046T>A	c.(3046-3048)Tgc>Agc	p.C1016S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1016	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.C1016S(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGGGGGGCAGACACACTCT	0.552000													32	111					0	0	0.235728	0	0
NUTM1	256646	broad.mit.edu	37	15	34640257	34640257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:34640257C>A	ENST00000537011.1	+	3	570	c.188C>A	c.(187-189)tCt>tAt	p.S63Y	NUTM1_ENST00000333756.4_Missense_Mutation_p.S35Y|NUTM1_ENST00000438749.3_Missense_Mutation_p.S53Y					NUT midline carcinoma, family member 1									p.S35Y(2)									CCACCAACTTCTGACCCACCA	0.572000													40	111					2.54651e-27	4.36864e-27	0.246493	1	0
LRRC32	2615	broad.mit.edu	37	11	76371973	76371973	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:76371973C>A	ENST00000407242.2	-	3	906	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.V222L|LRRC32_ENST00000404995.1_Missense_Mutation_p.V222L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	222						integral to plasma membrane		p.V222L(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGTCTAGCACCCGCAGCTGC	0.622000													22	58					5.26018e-13	7.10671e-13	0.234183	1	0
DOCK2	1794	broad.mit.edu	37	5	169494661	169494661	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169494661G>T	ENST00000256935.8	+	45	4695	c.4615G>T	c.(4615-4617)Gtc>Ttc	p.V1539F	DOCK2_ENST00000520908.1_Missense_Mutation_p.V1031F|DOCK2_ENST00000540750.1_Missense_Mutation_p.V600F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1539	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.V1539F(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACCCTGCTGTCATGGGAGG	0.547000													14	123					4.36969e-10	5.56921e-10	0.105934	1	0
STXBP5L	9515	broad.mit.edu	37	3	120973837	120973837	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:120973837G>T	ENST00000273666.6	+	16	1808	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	STXBP5L_ENST00000471454.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D513Y	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	513					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.D513Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTAGAGGAAGACCCATTTGC	0.363000													19	53					6.44725e-10	8.18144e-10	0.249174	1	0
DOPEY2	9980	broad.mit.edu	37	21	37664514	37664514	+	Missense_Mutation	SNP	C	C	G	rs34428315		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr21:37664514C>G	ENST00000399151.3	+	36	6713	c.6628C>G	c.(6628-6630)Cta>Gta	p.L2210V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2210					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.L2210V(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTAGAACTTCTAAAATTAAA	0.428000													32	73					0	0	0.153744	0	0
PTBP2	58155	broad.mit.edu	37	1	97278637	97278637	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:97278637A>T	ENST00000236228.6	+	13	1523	c.1441A>T	c.(1441-1443)Act>Tct	p.T481S	PTBP2_ENST00000394184.3_Missense_Mutation_p.T497S|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.T486S|PTBP2_ENST00000426398.2_Missense_Mutation_p.T481S|PTBP2_ENST00000370198.1_Missense_Mutation_p.T486S	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	481	RRM 4.						nucleotide binding	p.T481S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CACTGGGGGCACTGTGAAAGC	0.333000													32	110					0	0	0.163468	0	0
LRRC49	54839	broad.mit.edu	37	15	71305143	71305143	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:71305143G>C	ENST00000260382.5	+	14	1854	c.1593_splice	c.e14-1	p.V532_splice	LRRC49_ENST00000560691.1_Splice_Site_p.V238_splice|LRRC49_ENST00000544974.2_Splice_Site_p.V522_splice|LRRC49_ENST00000443425.2_Splice_Site_p.V488_splice|LRRC49_ENST00000560369.1_Splice_Site_p.V537_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Splice_Site_p.V220_splice	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	532						cytoplasm|microtubule		p.V532L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCTCTTCAGGTGACACAGAA	0.373000													39	107					0	0	0.246493	0	0
PPP5C	5536	broad.mit.edu	37	19	46878954	46878954	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:46878954G>T	ENST00000012443.4	+	3	560	c.457G>T	c.(457-459)Gcg>Tcg	p.A153S	PPP5C_ENST00000391919.1_Missense_Mutation_p.A47S	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	153					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.A153S(2)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCGGGCCATCGCGGGCGACGA	0.582000													13	26					9.05144e-12	1.19798e-11	0.105934	1	0
ALPK1	80216	broad.mit.edu	37	4	113350384	113350384	+	Missense_Mutation	SNP	C	C	T	rs34120296		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:113350384C>T	ENST00000458497.1	+	10	1154	c.875C>T	c.(874-876)aCg>aTg	p.T292M	ALPK1_ENST00000177648.9_Missense_Mutation_p.T292M|ALPK1_ENST00000504176.2_Missense_Mutation_p.T214M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	292			T -> M (in dbSNP:rs34120296).				ATP binding|protein serine/threonine kinase activity	p.T292M(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGTGCCTATACGCCGCTCTTC	0.557000													46	124					0	0	0.139131	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	22					0	0	0.115264	0	0
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:116430678C>T	ENST00000395715.3	-	6	3280	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	TRPS1_ENST00000519076.1_Silent_p.R642R|TRPS1_ENST00000520276.1_Silent_p.R892R|TRPS1_ENST00000220888.5_Silent_p.R888R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888			T -> P (in TRPS3; severe).		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCCTCTACGCCTCTGAAACA	0.473000									Langer-Giedion syndrome				35	105					0	0	0.214465	0	0
GPX7	2882	broad.mit.edu	37	1	53073948	53073948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:53073948G>A	ENST00000361314.4	+	3	453	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	139					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.E139K(2)		breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	TTCTGGGAAGGAGCCCACCTG	0.552000													25	88					0	0	0.099896	0	0
NMS	129521	broad.mit.edu	37	2	101093867	101093867	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:101093867T>A	ENST00000376865.1	+	5	259	c.252T>A	c.(250-252)gtT>gtA	p.V84V		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	84					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.V84V(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CACATCCAGTTAAAACTGGGG	0.368000													9	33					0	0	0.080935	0	0
IL6ST	3572	broad.mit.edu	37	5	55248180	55248180	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:55248180C>A	ENST00000381298.2	-	12	1763		c.e12-1		IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)						interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTAAGTTCCCTAAAGCAAGA	0.333000			O		hepatocellular ca								4	121					0.014758	0.0154444	0.184627	1	0
AGAP11	119385	broad.mit.edu	37	10	88769369	88769369	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:88769369C>G	ENST00000444431.1	+	0	3969				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCTGGGCCAGCACCTGCTGCG	0.607000													48	143					0	0	0.139131	0	0
KNTC1	9735	broad.mit.edu	37	12	123041966	123041966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:123041966G>T	ENST00000333479.7	+	17	1485	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E399D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	436					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.E436D(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATATTGGAGAAACTGGCAT	0.383000													13	72					1.5842e-08	1.94289e-08	0.105934	1	0
COL3A1	1281	broad.mit.edu	37	2	189875383	189875383	+	Missense_Mutation	SNP	G	G	T	rs140646380	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:189875383G>T	ENST00000304636.3	+	50	4191	c.4021G>T	c.(4021-4023)Ggc>Tgc	p.G1341C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1038C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1341	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G1341C(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTTTAGCTACGGCAATCCTGA	0.408000													48	119					7.77372e-23	1.26323e-22	0.139131	1	0
GIT1	28964	broad.mit.edu	37	17	27910597	27910597	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:27910597C>A	ENST00000225394.3	-	2	338	c.90G>T	c.(88-90)gtG>gtT	p.V30V	GIT1_ENST00000581348.1_Silent_p.V30V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.V30V|GIT1_ENST00000579937.1_Silent_p.V30V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	30	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	p.V30V(4)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ACTCGTCACACACCAGCACAC	0.657000													6	18					0.217242	0.22102	0.217242	1	0
CHD6	84181	broad.mit.edu	37	20	40042045	40042045	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:40042045C>T	ENST00000373233.3	-	35	7227	c.7050G>A	c.(7048-7050)gaG>gaA	p.E2350E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2350					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.E2350E(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAATGGATTTCTCGGCTTGGC	0.592000													4	37					0	0	0.217242	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396022	1396022	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:1396022G>T	ENST00000324385.5	+	24	2507	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	BAIAP3_ENST00000568887.1_Silent_p.L720L|BAIAP3_ENST00000397488.2_Silent_p.L765L|BAIAP3_ENST00000397489.1_Silent_p.L765L|BAIAP3_ENST00000562208.1_Silent_p.L725L|BAIAP3_ENST00000426824.3_Silent_p.L748L|BAIAP3_ENST00000421665.2_Silent_p.L712L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	783	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.L783L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ATACGGAGCTGCTTCGGAAGA	0.682000													5	23					0.000602214	0.000654824	0.184627	1	0
HIPK2	28996	broad.mit.edu	37	7	139285223	139285223	+	Missense_Mutation	SNP	C	C	A	rs56132157		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:139285223C>A	ENST00000406875.3	-	11	2469	c.2375G>T	c.(2374-2376)cGg>cTg	p.R792L	HIPK2_ENST00000428878.2_Missense_Mutation_p.R765L|HIPK2_ENST00000342645.6_Missense_Mutation_p.R792L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	792	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		R -> Q.		apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R792L(4)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGCTGCTGCCGCATCACGTG	0.567000													13	80					1.5842e-08	1.94289e-08	0.105934	1	0
PCCA	5095	broad.mit.edu	37	13	100809550	100809550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:100809550G>T	ENST00000376285.1	+	6	462	c.424G>T	c.(424-426)Ggt>Tgt	p.G142C	PCCA_ENST00000376286.4_Missense_Mutation_p.G116C|PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376279.3_Missense_Mutation_p.G142C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	142	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.G142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGTACATCCAGGTTATGGATT	0.308000													16	58					1.67942e-08	2.05535e-08	0.175082	1	0
KDR	3791	broad.mit.edu	37	4	55961743	55961743	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:55961743C>A	ENST00000263923.4	-	20	3113		c.e20+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGACATACCTTGTAGGGG	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			19	86					1.2644e-06	1.48828e-06	0.219247	1	0
TENM1	10178	broad.mit.edu	37	X	124097430	124097430	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:124097430T>G	ENST00000422452.2	-	1	236	c.173A>C	c.(172-174)aAt>aCt	p.N58T	TENM1_ENST00000371130.3_Missense_Mutation_p.N58T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.N58T(2)									ACTCTGGCTATTGTAATTCAT	0.368000													132	221					0	0	0.139131	0	0
NLRP12	91662	broad.mit.edu	37	19	54304481	54304481	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54304481C>A	ENST00000324134.6	-	7	2924	c.2756_splice	c.e7+1	p.R919_splice	NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Splice_Site_p.R919_splice|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Splice_Site_p.R920_splice|NLRP12_ENST00000391773.1_Splice_Site_p.R920_splice|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Splice_Site_p.R919_splice	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	919					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R919L(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGGACTCACCGCAGGGTCTG	0.617000													17	65					2.4624e-09	3.07143e-09	0.204396	1	0
FHL5	9457	broad.mit.edu	37	6	97052766	97052766	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:97052766C>T	ENST00000326771.2	+	4	680	c.300C>T	c.(298-300)tcC>tcT	p.S100S	FHL5_ENST00000541107.1_Silent_p.S100S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	100	LIM zinc-binding 1.					nucleus	zinc ion binding	p.S100S(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGTGCTCCTCCAAGTGCTTCC	0.512000													39	73					0	0	0.257332	0	0
STXBP5	134957	broad.mit.edu	37	6	147680270	147680270	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:147680270A>C	ENST00000367481.3	+	21	2356	c.2248A>C	c.(2248-2250)Att>Ctt	p.I750L	STXBP5_ENST00000321680.6_Missense_Mutation_p.I786L|STXBP5_ENST00000179882.6_Missense_Mutation_p.I441L|STXBP5_ENST00000367480.3_Missense_Mutation_p.I733L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	786					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.I786L(2)|p.I750L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTAACAAGCATTGACAAAGA	0.418000													10	60					0	0	0.069234	0	0
NUF2	83540	broad.mit.edu	37	1	163317609	163317609	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:163317609G>C	ENST00000271452.3	+	12	1284	c.1005G>C	c.(1003-1005)aaG>aaC	p.K335N	NUF2_ENST00000524800.1_Missense_Mutation_p.K288N|NUF2_ENST00000367900.3_Missense_Mutation_p.K335N	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	335	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.K335N(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGAAATTGAAGACTGAAGAAA	0.333000													9	88					0	0	0.047766	0	0
MTUS2	23281	broad.mit.edu	37	13	30066847	30066847	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:30066847G>C	ENST00000431530.3	+	10	3658	c.3600G>C	c.(3598-3600)ctG>ctC	p.L1200L	MTUS2_ENST00000380808.2_Silent_p.L169L|MTUS2_ENST00000542829.1_Silent_p.L79L	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1190						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.L1200L(2)|p.L169L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGCGGCTGTCATTGCAGG	0.363000													18	57					0	0	0.204396	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303330	153303330	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:153303330C>A	ENST00000368739.3	-	9	1381	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L	PGLYRP4_ENST00000359650.5_Silent_p.L345L			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	345					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	p.L345L(2)		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)			TGTGGCCCACCAGCAGGTAGT	0.552000													77	206					8.50452e-49	1.57441e-48	0.139131	1	0
ELK3	2004	broad.mit.edu	37	12	96653534	96653534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:96653534C>T	ENST00000228741.3	+	4	1354	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	ELK3_ENST00000552142.1_Missense_Mutation_p.P78L|ELK3_ENST00000549529.1_3'UTR	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	343					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P343L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTTCTGACTCCGAGTCCACTG	0.527000													5	155					0	0	0.184627	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369202	20369202	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:20369202G>T	ENST00000593655.1	-	0	199																											TGAAATCAAGGATCTTATGGT	0.388000													26	86					1.66031e-10	2.13e-10	0.294199	1	0
DLGAP2	9228	broad.mit.edu	37	8	1581027	1581027	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:1581027C>A	ENST00000421627.2	+	5	1519	c.1385C>A	c.(1384-1386)tCc>tAc	p.S462Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	541					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S506Y(2)|p.S484Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAATTCGAGTCCGTGTGCGAG	0.567000													8	21					0.000274275	0.0003016	0.047766	1	0
TCHH	7062	broad.mit.edu	37	1	152082789	152082789	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152082789C>G	ENST00000368804.1	-	2	2903	c.2904G>C	c.(2902-2904)caG>caC	p.Q968H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	968	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.Q968H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcttccttctgctgcagct	0.567000													15	522					0	0	0.119110	0	0
RYR1	6261	broad.mit.edu	37	19	38939385	38939385	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:38939385T>G	ENST00000355481.4	+	11	1185	c.1054T>G	c.(1054-1056)Tca>Gca	p.S352A	RYR1_ENST00000360985.3_Missense_Mutation_p.S352A|RYR1_ENST00000359596.3_Missense_Mutation_p.S352A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	352	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S352A(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCATGTGGCCTCAGGACTGTG	0.617000													42	104					0	0	0.290176	0	0
FUT1	2523	broad.mit.edu	37	19	49253722	49253722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:49253722C>A	ENST00000310160.3	-	4	1791	c.817G>T	c.(817-819)Gac>Tac	p.D273Y		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	273					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	p.D273Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGGAGGTGTCGATGTTTTCT	0.587000													64	186					3.8688e-20	6.00332e-20	0.139131	1	0
SPAG17	200162	broad.mit.edu	37	1	118539080	118539080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:118539080G>A	ENST00000336338.5	-	34	5031	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1656						cilium|flagellar axoneme|microtubule		p.R1656*(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACTGTCTCGAAGAAGTTCC	0.358000													34	109					0	0	0.183431	0	0
RTN1	6252	broad.mit.edu	37	14	60072161	60072161	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:60072161C>A	ENST00000267484.5	-	5	2372	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	RTN1_ENST00000395090.1_Silent_p.L96L|RTN1_ENST00000342503.4_Silent_p.L111L|RTN1_ENST00000557422.1_Intron	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	679	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.L679L(2)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGTAGAACTGCAGGCAGTCCG	0.473000													26	56					1.38267e-23	2.27208e-23	0.108266	1	0
FREM1	158326	broad.mit.edu	37	9	14812842	14812842	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:14812842A>T	ENST00000380881.4	-	17	3679	c.2864T>A	c.(2863-2865)gTt>gAt	p.V955D	FREM1_ENST00000380880.3_Missense_Mutation_p.V954D|FREM1_ENST00000422223.2_Missense_Mutation_p.V954D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	954					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V955D(2)		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)		CTCTGAGATAACATCTCTCTG	0.507000													64	209					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179398197	179398197	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179398197A>G	ENST00000589042.1	-	358	103369	c.103145T>C	c.(103144-103146)tTt>tCt	p.F34382S	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F25442S|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F32741S|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F31814S|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F25509S|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F25317S|TTN-AS1_ENST00000591466.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32741							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F25317S(2)|p.F25509S(2)|p.F31814S(2)|p.F31812S(2)|p.F25442S(2)		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)			TCTGATCTCAAAGCAGACACT	0.473000													32	50					0	0	0.173368	0	0
APBA1	320	broad.mit.edu	37	9	72082745	72082745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:72082745C>A	ENST00000265381.4	-	5	1698	c.1476G>T	c.(1474-1476)agG>agT	p.R492S	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTTGATCCTGCTTACGG	0.527000													20	116					9.95505e-16	1.42042e-15	0.249174	1	0
CACNA1E	777	broad.mit.edu	37	1	181686252	181686252	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:181686252A>T	ENST00000526775.1	+	11	1504	c.1339A>T	c.(1339-1341)Atc>Ttc	p.I447F	CACNA1E_ENST00000360108.3_Missense_Mutation_p.I447F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I447F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I447F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I54F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I398F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	447					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I447F(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGCCAGTATCAAAAGTGC	0.512000													31	123					0	0	0.144211	0	0
AS3MT	57412	broad.mit.edu	37	10	104638636	104638636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:104638636G>C	ENST00000369880.3	+	9	850	c.773G>C	c.(772-774)cGc>cCc	p.R258P	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	258					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	p.R258P(2)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCAACATTTCGCCTCTTCAAA	0.413000													30	86					0	0	0.153744	0	0
F5	2153	broad.mit.edu	37	1	169519136	169519136	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:169519136T>A	ENST00000367796.3	-	10	1715	c.1514A>T	c.(1513-1515)tAc>tTc	p.Y505F	F5_ENST00000367797.3_Missense_Mutation_p.Y505F|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	505	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Y505F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCACTGTAGTATGGTCTTGT	0.443000													52	137					0	0	0.139131	0	0
CA11	770	broad.mit.edu	37	19	49142169	49142169	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:49142169G>T	ENST00000084798.4	-	8	1616	c.937C>A	c.(937-939)Cga>Aga	p.R313R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	313						extracellular region		p.R313R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TTGGGGCCTCGGCAGCGCCTC	0.637000													9	26					6.40141e-05	7.14661e-05	0.080935	1	0
SIGLECL1	284369	broad.mit.edu	37	19	51768891	51768891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:51768891C>A	ENST00000316401.7	+	3	673	c.292C>A	c.(292-294)Cta>Ata	p.L98I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.L98I(2)									TTTGAGCATCCTACTGATGTC	0.537000													36	126					2.19358e-23	3.59452e-23	0.225048	1	0
CSMD3	114788	broad.mit.edu	37	8	113421167	113421167	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:113421167G>T	ENST00000297405.5	-	33	5734	c.5490C>A	c.(5488-5490)tcC>tcA	p.S1830S	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Silent_p.S1726S|CSMD3_ENST00000343508.3_Silent_p.S1790S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1830	CUB 10.					integral to membrane|plasma membrane		p.S1790S(2)|p.S1830S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCTGAGAGGGAAGATAACA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	150					1.23103e-26	2.09346e-26	0.131918	1	0
OVCH2	341277	broad.mit.edu	37	11	7716867	7716867	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:7716867C>A	ENST00000454689.1	-	0	1215				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)									p.D406Y(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCTGTGGCATCAGAGACGAAT	0.448000													11	27					6.42651e-13	8.62273e-13	0.080935	1	0
MON2	23041	broad.mit.edu	37	12	62929426	62929426	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:62929426C>T	ENST00000393630.3	+	14	2228	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	MON2_ENST00000280379.6_Silent_p.L613L|MON2_ENST00000546600.1_Silent_p.L613L|MON2_ENST00000393629.2_Silent_p.L613L|MON2_ENST00000552738.1_Intron|MON2_ENST00000393632.2_Silent_p.L613L|MON2_ENST00000552115.1_Silent_p.L613L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	613					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.L613L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAAGGTTCCCTGCCTCCCCA	0.408000													41	110					0	0	0.246493	0	0
TCF12	6938	broad.mit.edu	37	15	57212142	57212142	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:57212142A>T	ENST00000267811.5	+	2	335	c.31A>T	c.(31-33)Ata>Tta	p.I11L	TCF12_ENST00000438423.2_Missense_Mutation_p.I11L|TCF12_ENST00000557843.1_Missense_Mutation_p.I11L|TCF12_ENST00000333725.5_Missense_Mutation_p.I11L|TCF12_ENST00000452095.2_Missense_Mutation_p.I11L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	11					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	p.I11L(6)	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)		CATGGCCGCTATAGGGACCGA	0.547000			T	TEC	extraskeletal myxoid chondrosarcoma								16	73					0	0	0.160694	0	0
TARS2	80222	broad.mit.edu	37	1	150470105	150470105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:150470105G>A	ENST00000369064.3	+	10	1154	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Missense_Mutation_p.D244N|TARS2_ENST00000606933.1_Missense_Mutation_p.D292N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	374					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.D374N(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTATCAGGAAGACATGTTTGC	0.547000													15	106					0	0	0.189662	0	0
DNAH5	1767	broad.mit.edu	37	5	13820609	13820609	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:13820609C>A	ENST00000265104.4	-	41	6792		c.e41-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		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)					CTTCTTCAACCTGAAAACATA	0.507000									Kartagener syndrome				20	100					1.96292e-10	2.51271e-10	0.219247	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762209	130762209	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:130762209G>T	ENST00000392429.1	+	2	3020	c.642G>T	c.(640-642)tcG>tcT	p.S214S	TMEM200A_ENST00000545622.1_Silent_p.S214S|TMEM200A_ENST00000296978.3_Silent_p.S214S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	214						integral to membrane		p.S214S(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTCTTTCTCGGGTTTTCGGA	0.478000													23	21					1.10513e-12	1.46932e-12	0.249174	1	0
COL26A1	136227	broad.mit.edu	37	7	101183242	101183242	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:101183242T>G	ENST00000313669.7	+	0	708				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.T172T(2)									CCGAGAGCACTCCGCCGACCT	0.657000													23	15					0	0	0.108266	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519237	48519237	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:48519237G>T	ENST00000339841.2	+	4	474	c.296G>T	c.(295-297)tGg>tTg	p.W99L	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	99	Fibronectin type-II 2.				single fertilization	extracellular region		p.W99L(2)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGCAGTCTGTGGTGCTCAGTC	0.507000													24	89					3.08376e-08	3.75052e-08	0.279207	1	0
GALR1	2587	broad.mit.edu	37	18	74963084	74963084	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74963084C>A	ENST00000299727.3	+	1	580	c.580C>A	c.(580-582)Cct>Act	p.P194T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTGGCCCGACCCTCGCCACAA	0.662000													26	90					7.68411e-24	1.27343e-23	0.134883	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45711253	45711253	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:45711253C>A	ENST00000310806.4	-	4	1585	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	376					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.G376V(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTTTAAGTCCATTTGTAAC	0.318000													34	115					5.91797e-21	9.30648e-21	0.163468	1	0
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	G	T	rs35379048	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:7585490G>T	ENST00000379802.3	+	24	8336	c.7995G>T	c.(7993-7995)acG>acT	p.T2665T	DSP_ENST00000418664.2_Silent_p.T2066T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2665	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.T2665T(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCCAACCACGGGCCAGAAGC	0.577000													76	92					4.75426e-39	8.71862e-39	0.139131	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72165754	72165754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:72165754C>T	ENST00000555818.1	+	11	3779	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1144F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S619F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1144F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1144					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1144F(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTAGCAAGATCCCAGTGTCGG	0.488000													34	125					0	0	0.163468	0	0
USP29	57663	broad.mit.edu	37	19	57641790	57641790	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57641790C>A	ENST00000254181.4	+	4	2201	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	USP29_ENST00000598197.1_Missense_Mutation_p.L583M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	583					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L583M(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCAATGAAGCTGACCTCAGA	0.483000													34	92					3.90053e-15	5.48512e-15	0.163468	1	0
FBXW5	54461	broad.mit.edu	37	9	139836896	139836896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:139836896T>C	ENST00000325285.3	-	6	777	c.698A>G	c.(697-699)aAc>aGc	p.N233S	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	233							catalytic activity|protein binding	p.N233S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CTTCACCACGTTGACGTTCTC	0.697000													6	74					0	0	0.278610	0	0
TLE3	7090	broad.mit.edu	37	15	70353100	70353100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:70353100C>G	ENST00000442299.2	-	8	1707	c.589G>C	c.(589-591)Gct>Cct	p.A197P	TLE3_ENST00000557997.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000558939.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000558201.1_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	197	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A197P(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGAGAAGCTGaactcctc	0.582000													5	21					0	0	0.217242	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111590	142111590	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142111590G>T	ENST00000390378.1	-	0	145																											GGACACACTGGTGTGCCCAGA	0.527000													85	64					7.29696e-51	1.35947e-50	0.139131	1	0
COL22A1	169044	broad.mit.edu	37	8	139890364	139890364	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:139890364C>A	ENST00000303045.6	-	3	733	c.287G>T	c.(286-288)gGc>gTc	p.G96V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G96V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	96	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G96V(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCCTGCGAGCCAAAGAGTCC	0.692000										HNSCC(7;0.00092)			3	19					6.4e-05	7.14661e-05	0.115264	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128842434	128842434	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:128842434G>A	ENST00000310343.9	-	21	3924	c.3925C>T	c.(3925-3927)Ccg>Tcg	p.P1309S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P960S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P960S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1309	Poly-Pro.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.P1309S(2)|p.P960S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGGAAGGCGGAGGGGGAAGG	0.537000													40	74					0	0	0.225048	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:77766283G>C	ENST00000521891.2	+	10	7574	c.7126G>C	c.(7126-7128)Gct>Cct	p.A2376P	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2350P|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2331P|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2331P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2331	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A2360P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAACGCTGCTGCCCC	0.512000										HNSCC(33;0.089)			30	78					0	0	0.144211	0	0
SDK2	54549	broad.mit.edu	37	17	71397871	71397871	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:71397871G>A	ENST00000392650.3	-	20	2701	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	SDK2_ENST00000388726.3_Silent_p.L901L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	901	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.L901L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGAAGCTCAGGTGTCCCACG	0.577000													3	9					0	0	0.115264	0	0
OR51F2	119694	broad.mit.edu	37	11	4842710	4842710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:4842710C>A	ENST00000322110.5	+	1	160	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P32Q(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCATTCCAGGCCTGAAA	0.473000													116	265					1.43268e-76	2.73894e-76	0.139131	1	0
TTN	7273	broad.mit.edu	37	2	179629388	179629388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:179629388C>A	ENST00000589042.1	-	42	10078	c.9854G>T	c.(9853-9855)tGc>tTc	p.C3285F	TTN_ENST00000360870.5_Missense_Mutation_p.C3285F|TTN_ENST00000359218.5_Missense_Mutation_p.C3239F|TTN_ENST00000591111.1_Missense_Mutation_p.C3285F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C3285F|TTN_ENST00000342175.6_Missense_Mutation_p.C3239F|TTN_ENST00000460472.2_Missense_Mutation_p.C3239F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3014	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C3285F(6)|p.C3239F(6)		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)			AAGAAATTTGCACTTGAAGCC	0.493000													80	134					3.33531e-57	6.29405e-57	0.139131	1	0
TKTL2	84076	broad.mit.edu	37	4	164394019	164394019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:164394019G>T	ENST00000280605.3	-	1	1028	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm	metal ion binding|transketolase activity	p.P290T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCGATTTTGGTATGAGATTC	0.408000													75	304					2.24367e-16	3.26505e-16	0.139131	1	0
THUMPD1	55623	broad.mit.edu	37	16	20748250	20748250	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:20748250T>A	ENST00000381337.2	-	4	1358	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	THUMPD1_ENST00000431224.2_Silent_p.A424A|THUMPD1_ENST00000396083.2_Silent_p.A338A	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	338								p.A338A(2)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGGCTTGACTTGCAAGTTCAG	0.478000													16	56					0	0	0.234183	0	0
FRAS1	80144	broad.mit.edu	37	4	79402985	79402985	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:79402985A>G	ENST00000264895.6	+	57	8911	c.8471A>G	c.(8470-8472)cAt>cGt	p.H2824R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2819	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.H2824R(2)|p.H2825R(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTATCCGCCATGGTACTGAC	0.478000													154	233					0	0	0.139131	0	0
GRK5	2869	broad.mit.edu	37	10	121140407	121140407	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:121140407C>A	ENST00000392870.2	+	3	558	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	77	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.L77M(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGGCCTGGGCTGGAGTGTTA	0.498000													32	98					1.23537e-32	2.18336e-32	0.203993	1	0
C15orf26	161502	broad.mit.edu	37	15	81436103	81436103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:81436103G>T	ENST00000286732.4	+	5	661	c.578G>T	c.(577-579)tGg>tTg	p.W193L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	193								p.W193L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAACTGCTGGCAGGCTGCC	0.537000													61	183					2.30037e-20	3.58857e-20	0.139131	1	0
MYO15A	51168	broad.mit.edu	37	17	18023924	18023924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:18023924G>A	ENST00000205890.5	+	2	2148	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	604	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E604K(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGTCAGGGAGGCGGCCTA	0.697000													3	8					0	0	0.150653	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008704	88008704	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:88008704C>G	ENST00000276127.4	+	3	548	c.289C>G	c.(289-291)Ccc>Gcc	p.P97A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P97A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	97						intracellular	zinc ion binding	p.P97A(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GACCCCCATTCCCAGAAAATT	0.413000													10	33					0	0	0.069234	0	0
SENP2	59343	broad.mit.edu	37	3	185341817	185341817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:185341817A>T	ENST00000296257.5	+	15	1798	c.1558A>T	c.(1558-1560)Aga>Tga	p.R520*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.R510*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.R344*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	520	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	p.R520*(2)|p.K520*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAAGACCAAAAGAAATAGTGA	0.343000													29	83					0	0	0.134883	0	0
GP5	2814	broad.mit.edu	37	3	194118069	194118069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:194118069G>A	ENST00000401815.1	-	1	1014	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	GP5_ENST00000323007.3_Missense_Mutation_p.R315C			P40197	GPV_HUMAN	glycoprotein V (platelet)	315					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.R315C(4)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCGCAGGCGGCTCAGGTTG	0.726000													7	17					0	0	0.119110	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799011	140799011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:140799011G>T	ENST00000398594.2	+	1	1585	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1												p.E529*(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACCTTCGAGCTCACGCT	0.697000													71	74					1.17253e-29	2.04755e-29	0.139131	1	0
FAM179A	165186	broad.mit.edu	37	2	29274652	29274652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:29274652C>A	ENST00000379558.4	+	20	3104	c.2753C>A	c.(2752-2754)cCt>cAt	p.P918H	FAM179A_ENST00000403861.2_Missense_Mutation_p.P863H|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	918							binding	p.P918H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCGGAAGCCTCAAGCTGTA	0.612000													3	2					6.4e-05	7.14661e-05	0.115264	1	0
ITM2B	9445	broad.mit.edu	37	13	48835306	48835306	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:48835306C>T	ENST00000378565.5	+	6	950	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ITM2B_ENST00000378549.5_Silent_p.F143F	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	249					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.F249F(2)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GCAATTGTTTCGCAATTCGGC	0.284000													11	94					0	0	0.093190	0	0
CDHR2	54825	broad.mit.edu	37	5	176011426	176011426	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176011426T>A	ENST00000510636.1	+	19	2418	c.2144T>A	c.(2143-2145)gTg>gAg	p.V715E	CDHR2_ENST00000261944.5_Missense_Mutation_p.V715E|CDHR2_ENST00000506348.1_Missense_Mutation_p.V715E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	715	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V715E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTAGTGGGCGTGGTGAAGGCC	0.617000													29	221					0	0	0.116897	0	0
OCA2	4948	broad.mit.edu	37	15	28230275	28230275	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:28230275C>A	ENST00000354638.3	-	13	1454	c.1299G>T	c.(1297-1299)gcG>gcT	p.A433A	OCA2_ENST00000353809.5_Silent_p.A409A|OCA2_ENST00000382996.2_Silent_p.A433A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.A433A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGGACGGCCGCGATGAGAC	0.602000									Oculocutaneous Albinism				17	44					1.33834e-09	1.68734e-09	0.189662	1	0
KIF21A	55605	broad.mit.edu	37	12	39761735	39761735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:39761735C>A	ENST00000395670.3	-	4	969	c.550G>T	c.(550-552)Gga>Tga	p.G184*	KIF21A_ENST00000541463.2_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.G184*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.G184*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	184	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G184*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTATAAATTCCTCCAGTTGAA	0.308000													50	184					7.93035e-42	1.45888e-41	0.139131	1	0
KIAA1432	57589	broad.mit.edu	37	9	5762559	5762559	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:5762559A>G	ENST00000414202.2	+	18	2202	c.2011A>G	c.(2011-2013)Att>Gtt	p.I671V	KIAA1432_ENST00000449720.2_Missense_Mutation_p.I555V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.I592V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.I592V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.I671V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	671						integral to membrane		p.I592V(2)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCAGAGAGCATTATGTTAAA	0.458000													24	79					0	0	0.099896	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416997	89416997	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:89416997C>T	ENST00000490686.1	-	0	213																											GGGGCTTTCCCTGGTTTCTGC	0.522000													5	126					0	0	0.217242	0	0
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247607348C>A	ENST00000366497.2	+	7	3353	c.2573C>A	c.(2572-2574)aCg>aAg	p.T858K	NLRP3_ENST00000366496.2_Missense_Mutation_p.T858K|NLRP3_ENST00000336119.3_Missense_Mutation_p.T915K|NLRP3_ENST00000348069.2_Missense_Mutation_p.T801K|NLRP3_ENST00000391828.3_Missense_Mutation_p.T915K|NLRP3_ENST00000391827.2_Missense_Mutation_p.T858K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	915					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T915K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAATCTCACGCACCTTTAC	0.512000													46	67					2.27781e-18	3.4255e-18	0.139131	1	0
GPR125	166647	broad.mit.edu	37	4	22390178	22390178	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:22390178C>A	ENST00000334304.5	-	19	3385	c.3116G>T	c.(3115-3117)aGt>aTt	p.S1039I	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1039					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.S1039I(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAAGAACGCACTGAAGCTTAA	0.463000													26	76					1.42536e-11	1.878e-11	0.099896	1	0
TRPM3	80036	broad.mit.edu	37	9	73399169	73399169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:73399169C>A	ENST00000377110.2	-	7	1243	c.1000G>T	c.(1000-1002)Gca>Tca	p.A334S	TRPM3_ENST00000408909.2_Missense_Mutation_p.A181S|TRPM3_ENST00000423814.3_Missense_Mutation_p.A361S|TRPM3_ENST00000358082.3_Missense_Mutation_p.A206S|TRPM3_ENST00000396285.1_Missense_Mutation_p.A181S|TRPM3_ENST00000396292.4_Missense_Mutation_p.A206S|TRPM3_ENST00000361823.5_Missense_Mutation_p.A181S|TRPM3_ENST00000357533.2_Missense_Mutation_p.A336S|TRPM3_ENST00000377111.2_Missense_Mutation_p.A334S|TRPM3_ENST00000377106.1_Missense_Mutation_p.A206S|TRPM3_ENST00000396280.5_Missense_Mutation_p.A181S|TRPM3_ENST00000377101.1_Missense_Mutation_p.A181S|TRPM3_ENST00000396283.1_Missense_Mutation_p.A206S|TRPM3_ENST00000377105.1_Missense_Mutation_p.A181S|TRPM3_ENST00000360823.2_Missense_Mutation_p.A206S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	359						integral to membrane	calcium channel activity	p.A206S(2)|p.A334S(2)|p.A336S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTATGAGTGCCACCACAGGA	0.458000													16	30					6.49762e-13	8.67833e-13	0.175082	1	0
THBS4	7060	broad.mit.edu	37	5	79373964	79373964	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:79373964C>G	ENST00000350881.2	+	17	2369	c.2179C>G	c.(2179-2181)Ctg>Gtg	p.L727V	THBS4_ENST00000511733.1_Missense_Mutation_p.L636V|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	727					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.L727V(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGGTCACCCTGACCGACTT	0.587000													6	39					0	0	0.217242	0	0
CTNNB1	1499	broad.mit.edu	37	3	41274850	41274850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:41274850G>T	ENST00000349496.5	+	8	1380	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	CTNNB1_ENST00000453024.1_Missense_Mutation_p.G360V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G367V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G367V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G367V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	367					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G367V(2)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAAGCTTTAGGACTTCACCTG	0.393000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				30	70					2.70662e-09	3.36888e-09	0.144211	1	0
OR8J1	219477	broad.mit.edu	37	11	56128508	56128508	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56128508C>A	ENST00000303039.3	+	1	818	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262P(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGTGCAGCCCCGAAGTAACC	0.408000													51	191					3.90926e-44	7.21424e-44	0.139131	1	0
EPCAM	4072	broad.mit.edu	37	2	47607038	47607038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:47607038G>T	ENST00000263735.4	+	7	1146	c.788G>T	c.(787-789)gGt>gTt	p.G263V	EPCAM_ENST00000405271.1_Missense_Mutation_p.G291V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	263					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.G263V(2)|p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCAATGCAGGGTCTAAAAgct	0.378000													12	48					5.50884e-06	6.35635e-06	0.093190	1	0
CSMD1	64478	broad.mit.edu	37	8	3432521	3432521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:3432521C>A	ENST00000520002.1	-	11	1848	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q431H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q431H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	431	CUB 3.					integral to membrane		p.Q430H(2)|p.Q159H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTTCATACTGAACCGGAT	0.517000													34	96					5.91797e-21	9.30648e-21	0.163468	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128052	3128052	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:3128052T>A	ENST00000380266.3	-	2	1986	c.1665A>T	c.(1663-1665)tcA>tcT	p.S555S	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	555					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.S555S(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATTCAGGCTTTGAATTCATAT	0.458000													31	83					0	0	0.153744	0	0
MIR516B1	574490	broad.mit.edu	37	19	54240116	54240116	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:54240116C>T	ENST00000385211.1	+	0	18					NR_030212.1																						CTGTGACCATCTGGAGGTAAG	0.398000													22	104					0	0	0.264190	0	0
MYO1B	4430	broad.mit.edu	37	2	192257838	192257838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:192257838G>T	ENST00000392318.3	+	20	2363	c.2116G>T	c.(2116-2118)Gac>Tac	p.D706Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.D706Y|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000392316.1_Missense_Mutation_p.D706Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.D706Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	706	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D706Y(4)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACGCCTGGAGGACTTGGCCAC	0.428000													10	85					1.58986e-06	1.86761e-06	0.069234	1	0
HTR5A	3361	broad.mit.edu	37	7	154862701	154862701	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:154862701C>G	ENST00000287907.2	+	1	668	c.92C>G	c.(91-93)cCc>cGc	p.P31R	AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	31						integral to plasma membrane	serotonin receptor activity	p.P31R(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GACCTGCGCCCCAGCTCGCCC	0.612000													23	115					0	0	0.116897	0	0
PROSER2	254427	broad.mit.edu	37	10	11908754	11908754	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:11908754G>A	ENST00000277570.5	+	3	517	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR	NM_153256.3	NP_694988.3			proline and serine-rich protein 2									p.E121E(2)									GGGAAGCCGAGGGCCTTCCAG	0.622000													18	44					0	0	0.234183	0	0
PRSS1	5644	broad.mit.edu	37	7	142459828	142459828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:142459828C>A	ENST00000486171.1	+	4	463	c.446C>A	c.(445-447)aCt>aAt	p.T149N	PRSS1_ENST00000311737.7_Missense_Mutation_p.T135N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	135	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T135N(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCCAGCCACTGGCACGAAG	0.557000													53	64					7.1157e-29	1.23522e-28	0.139131	1	0
PLCB1	23236	broad.mit.edu	37	20	8862495	8862495	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:8862495G>C	ENST00000338037.6	+	32	3677	c.3650G>C	c.(3649-3651)tGa>tCa	p.*1217S	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.*1217S(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTCCTCTGTGAATGCTCCTG	0.522000													20	67					0	0	0.204396	0	0
FAM198B	51313	broad.mit.edu	37	4	159052134	159052134	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:159052134C>G	ENST00000296530.8	-	4	1777	c.1156G>C	c.(1156-1158)Gga>Cga	p.G386R	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000393807.5_Missense_Mutation_p.G394R|FAM198B_ENST00000585682.1_Missense_Mutation_p.G386R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	386						Golgi membrane|integral to membrane		p.G386R(2)|p.G394R(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGTCTGAATCCACAGCAATTT	0.398000													15	73					0	0	0.119110	0	0
DCC	1630	broad.mit.edu	37	18	50923679	50923679	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:50923679C>A	ENST00000442544.2	+	18	3306	c.2688_splice	c.e18-1	p.S897_splice	DCC_ENST00000581580.1_Splice_Site_p.S532_splice|DCC_ENST00000412726.1_Splice_Site_p.S725_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	897	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S897*(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTGTATAGTCAGAAGACACA	0.328000													22	78					1.37657e-19	2.12478e-19	0.234183	1	0
TOX2	84969	broad.mit.edu	37	20	42695474	42695474	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:42695474G>T	ENST00000358131.5	+	7	1615	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	TOX2_ENST00000423191.1_Silent_p.G445G|TOX2_ENST00000435864.2_Silent_p.G365G|TOX2_ENST00000372999.1_Silent_p.G445G|TOX2_ENST00000341197.3_Silent_p.G487G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G496G(2)|p.G445G(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCAGTGGGGAGTGTGGCA	0.642000													45	119					1.30409e-13	1.78663e-13	0.139131	1	0
COL11A1	1301	broad.mit.edu	37	1	103488398	103488398	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:103488398T>C	ENST00000358392.2	-	8	1498	c.1181A>G	c.(1180-1182)gAt>gGt	p.D394G	COL11A1_ENST00000353414.4_Missense_Mutation_p.D343G|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382G|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				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	p.D382G(2)|p.D394G(2)		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)		TTCATAAAAATCATATTCGCC	0.368000													27	103					0	0	0.116897	0	0
DOCK2	1794	broad.mit.edu	37	5	169508848	169508848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:169508848C>A	ENST00000256935.8	+	51	5370	c.5290C>A	c.(5290-5292)Ctg>Atg	p.L1764M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256M|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825M|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.L1764M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCAGCCCTGGCGCTCTC	0.632000													5	52					0.000442599	0.00048487	0.058154	1	0
SCNN1D	6339	broad.mit.edu	37	1	1221528	1221528	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:1221528G>A	ENST00000338555.2	+	4	1433	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	SCNN1D_ENST00000379116.5_Missense_Mutation_p.V261I|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V97I|SCNN1D_ENST00000325425.8_Missense_Mutation_p.V163I					sodium channel, non-voltage-gated 1, delta subunit									p.V261I(2)|p.V97I(2)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGAGCCCTGGTCGCGCTCTG	0.692000													5	21					0	0	0.217242	0	0
OR5M10	390167	broad.mit.edu	37	11	56344907	56344907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56344907G>T	ENST00000526812.2	-	1	356	c.291C>A	c.(289-291)tgC>tgA	p.C97*		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97*(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTGTGTGAAGCATCCAGCGT	0.443000													15	73					1.33834e-09	1.68734e-09	0.189662	1	0
USP28	57646	broad.mit.edu	37	11	113699991	113699991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:113699991A>T	ENST00000003302.4	-	10	1055	c.987T>A	c.(985-987)tgT>tgA	p.C329*	USP28_ENST00000545540.1_Nonsense_Mutation_p.C204*|USP28_ENST00000544967.1_Nonsense_Mutation_p.C37*|USP28_ENST00000260188.5_Nonsense_Mutation_p.C329*|USP28_ENST00000537706.1_Nonsense_Mutation_p.C329*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	329					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.C329*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCCTTCCAAACACTCGTCTA	0.468000													19	43					0	0	0.204396	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666044	27666044	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:27666044G>T	ENST00000543753.1	+	4	424	c.377G>T	c.(376-378)cGc>cTc	p.R126L	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R126L|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R108L	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	126						integral to membrane		p.R126L(2)		large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACGGTGGCCGCCGCCTTATT	0.607000													56	119					8.28887e-21	1.3e-20	0.139131	1	0
GATM	2628	broad.mit.edu	37	15	45654417	45654417	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:45654417T>C	ENST00000396659.3	-	9	1501	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	388					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	p.I388V(2)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATGGTAGTGATACCTGCATTG	0.478000													13	45					0	0	0.093190	0	0
TNR	7143	broad.mit.edu	37	1	175365895	175365895	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:175365895A>T	ENST00000367674.1	-	5	1733	c.1025T>A	c.(1024-1026)aTt>aAt	p.I342N	TNR_ENST00000263525.2_Missense_Mutation_p.I342N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	342	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I342N(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTCCAGCTCAATGGACCTGTC	0.607000													27	184					0	0	0.108266	0	0
C1orf65	164127	broad.mit.edu	37	1	223567913	223567913	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:223567913G>T	ENST00000366875.3	+	1	1199	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	366								p.A366S(2)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAAGGCGCGCGCCCAGGCAGA	0.672000													17	10					3.52763e-06	4.11089e-06	0.160694	1	0
MKS1	54903	broad.mit.edu	37	17	56294052	56294052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:56294052C>A	ENST00000393119.2	-	3	310	c.236G>T	c.(235-237)gGg>gTg	p.G79V	MKS1_ENST00000337050.7_Missense_Mutation_p.G79V|MKS1_ENST00000537529.2_Missense_Mutation_p.G69V|MKS1_ENST00000313863.6_Missense_Mutation_p.G79V|MKS1_ENST00000546108.1_5'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	79					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.G79V(4)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCTGCCACCCAATCACAAT	0.502000													14	62					1.05317e-09	1.33356e-09	0.119110	1	0
MAGI2	9863	broad.mit.edu	37	7	77789402	77789402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:77789402C>T	ENST00000354212.4	-	16	3038	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E929K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E915K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	929	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding	p.E929K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCGAAGCCCTCATTCTCTTTG	0.532000													6	168					0	0	0.217242	0	0
USP31	57478	broad.mit.edu	37	16	23093759	23093759	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:23093759C>A	ENST00000219689.7	-	12	1949	c.1950_splice	c.e12+1	p.Q650_splice		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	650					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q650H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATTTCCATACCTGCCGAAATC	0.468000													22	67					6.32553e-13	8.52635e-13	0.099896	1	0
LRRC37BP1	147172	broad.mit.edu	37	17	28958781	28958781	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:28958781G>A	ENST00000578265.1	+	0	287				LRRC37BP1_ENST00000412831.1_RNA																							AGCTGAAGAAGCATCTGTAGG	0.463000													34	113					0	0	0.173368	0	0
PDS5A	23244	broad.mit.edu	37	4	39904046	39904046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:39904046C>T	ENST00000303538.8	-	13	1959	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PDS5A_ENST00000503396.1_Missense_Mutation_p.V474I	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	474					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.V474I(4)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGTGGGGGACAAGATACTGA	0.318000													5	72					0	0	0.184627	0	0
SIT1	27240	broad.mit.edu	37	9	35650214	35650214	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:35650214G>T	ENST00000259608.3	-	4	410	c.324C>A	c.(322-324)gaC>gaA	p.D108E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	108					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	p.D108E(2)		endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATCCTGCTGGTCTGGCTCTG	0.617000													24	71					1.85244e-09	2.32549e-09	0.279207	1	0
NPAP1	23742	broad.mit.edu	37	15	24921921	24921921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:24921921C>A	ENST00000329468.2	+	1	1381	c.907C>A	c.(907-909)Cct>Act	p.P303T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P303T(2)									AAAGAGGATGCCTGATGAGAA	0.572000													22	74					1.40151e-16	2.0446e-16	0.219247	1	0
SGIP1	84251	broad.mit.edu	37	1	67155929	67155929	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:67155929A>T	ENST00000371037.4	+	17	1577	c.1500A>T	c.(1498-1500)ttA>ttT	p.L500F	SGIP1_ENST00000371035.3_Missense_Mutation_p.L290F|SGIP1_ENST00000371039.1_Missense_Mutation_p.L301F|SGIP1_ENST00000237247.6_Missense_Mutation_p.L531F|SGIP1_ENST00000371036.3_Missense_Mutation_p.L300F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	500					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.L301F(2)|p.L500F(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGCACCCTTAGCGCGGGCTG	0.463000													63	152					0	0	0.139131	0	0
EPC1	80314	broad.mit.edu	37	10	32573907	32573907	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:32573907G>A	ENST00000319778.6	-	10	1765	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	EPC1_ENST00000375110.2_Missense_Mutation_p.S438L|EPC1_ENST00000263062.8_Missense_Mutation_p.S488L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	488					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.S488L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATGTTGTGGTGAGGAAAGCAT	0.388000													50	141					0	0	0.139131	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713801	138713801	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:138713801C>A	ENST00000389532.4	-	11	2770	c.2706G>T	c.(2704-2706)ctG>ctT	p.L902L	CAMSAP1_ENST00000312405.6_Silent_p.L624L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.L913L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	902						cytoplasm|microtubule		p.L902L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCTTGCCGACAGCGCCTCCA	0.637000													40	126					2.37825e-27	4.09199e-27	0.290176	1	0
EP400NL	347918	broad.mit.edu	37	12	132610920	132610920	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:132610920G>T	ENST00000475841.1	+	7	1826		c.e7-1							EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						TCATATTTCAGTTGCAAAAGA	0.358000													4	12					0.00909568	0.00960464	0.150653	1	0
KCNU1	157855	broad.mit.edu	37	8	36694374	36694374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:36694374G>T	ENST00000399881.3	+	14	1466	c.1429G>T	c.(1429-1431)Gaa>Taa	p.E477*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	477	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.E477*(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGCTTTGCTGAATTAAAACT	0.433000													52	133					1.00221e-16	1.4731e-16	0.139131	1	0
OR13C4	138804	broad.mit.edu	37	9	107288801	107288801	+	Silent	SNP	C	C	T	rs146391633		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:107288801C>T	ENST00000277216.3	-	1	689	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTCCTGTGGCCGAGTTCGTTC	0.413000													47	115					0	0	0.139131	0	0
RPL3L	6123	broad.mit.edu	37	16	2002992	2002992	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2002992G>T	ENST00000268661.7	-	3	342	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	83					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.P83H(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCACTAGGGGCGGCGTTTC	0.607000													21	97					7.07758e-08	8.53687e-08	0.099896	1	0
ROBO2	6092	broad.mit.edu	37	3	77623840	77623840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:77623840G>T	ENST00000461745.1	+	14	3062	c.2162G>T	c.(2161-2163)gGa>gTa	p.G721V	ROBO2_ENST00000332191.8_Missense_Mutation_p.G721V|ROBO2_ENST00000487694.3_Missense_Mutation_p.G737V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	721	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G737V(2)|p.G721V(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAGTTCCAAGGAATGGATAGT	0.373000													25	56					3.01185e-09	3.74083e-09	0.294199	1	0
LILRA1	11024	broad.mit.edu	37	19	55107393	55107393	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:55107393G>C	ENST00000251372.3	+	6	1133	c.951G>C	c.(949-951)ctG>ctC	p.L317L	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	317					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L317L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGACATCCTGATCGCAGGTG	0.682000													25	65					0	0	0.125774	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461293	5461293	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:5461293G>T	ENST00000296564.7	+	13	2068	c.1846G>T	c.(1846-1848)Ggt>Tgt	p.G616C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	616								p.G616C(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATGACTCAGGTGATGGAAT	0.418000													42	149					9.14704e-12	1.20791e-11	0.268233	1	0
HERC1	8925	broad.mit.edu	37	15	64067496	64067496	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:64067496T>A	ENST00000443617.2	-	2	414	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	109					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.V109V(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACGCTGGAGTACAAGCAGTC	0.473000													27	75					0	0	0.108266	0	0
CPT2	1376	broad.mit.edu	37	1	53676835	53676835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:53676835G>T	ENST00000371486.3	+	4	2004	c.1489G>T	c.(1489-1491)Ggc>Tgc	p.G497C	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	497					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	p.G497C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTCAAGCACGGCCGCACTGA	0.617000													7	17					0.000157383	0.000174374	0.278610	1	0
ANK1	286	broad.mit.edu	37	8	41553923	41553923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:41553923C>A	ENST00000396942.1	-	26	3001	c.2918G>T	c.(2917-2919)aGc>aTc	p.S973I	ANK1_ENST00000352337.4_Missense_Mutation_p.S973I|ANK1_ENST00000379758.2_Missense_Mutation_p.S973I|ANK1_ENST00000347528.4_Missense_Mutation_p.S973I|ANK1_ENST00000289734.7_Missense_Mutation_p.S973I|ANK1_ENST00000396945.1_Missense_Mutation_p.S973I|ANK1_ENST00000265709.8_Missense_Mutation_p.S1014I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	973	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S1014I(2)|p.S973I(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TATGATCCTGCTGGCCAGGCC	0.716000													30	78					1.88708e-17	2.7948e-17	0.134883	1	0
FAM86C2P	645332	broad.mit.edu	37	11	67559743	67559743	+	RNA	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:67559743A>G	ENST00000528089.1	-	0	2007																											ACCTGCGGGAATCGCAGCAGC	0.502000													8	47					0	0	0.058154	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:160237602C>A	ENST00000275275.5	+	14	1226	c.1055C>A	c.(1054-1056)gCg>gAg	p.A352E	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363E	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468000													29	85					3.22433e-31	5.68143e-31	0.134883	1	0
UPP2	151531	broad.mit.edu	37	2	158980311	158980311	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:158980311T>A	ENST00000605860.1	+	9	932	c.886T>A	c.(886-888)Tta>Ata	p.L296I	UPP2_ENST00000005756.4_Missense_Mutation_p.L239I|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.L296I			O95045	UPP2_HUMAN	uridine phosphorylase 2	239					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.L239I(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGAAAAAAAGTTAGACTACTT	0.453000													38	101					0	0	0.203993	0	0
PCF11	51585	broad.mit.edu	37	11	82879556	82879556	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:82879556G>C	ENST00000298281.4	+	8	2631	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	727	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.D826H(2)|p.D727H(2)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACCATTTGTAGATAGTCCAGC	0.428000													27	49					0	0	0.099896	0	0
ZNF264	9422	broad.mit.edu	37	19	57705360	57705360	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57705360G>A	ENST00000263095.6	+	2	565	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ZNF264_ENST00000600531.1_Missense_Mutation_p.V51M|ZNF264_ENST00000599653.1_Missense_Mutation_p.V51M|ZNF264_ENST00000536056.1_Missense_Mutation_p.V51M	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V51M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGGGCTCCTGGTGTCTCTGGG	0.587000													32	91					0	0	0.163468	0	0
RSRC2	65117	broad.mit.edu	37	12	122990164	122990164	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:122990164A>G	ENST00000331738.7	-	10	1360	c.1215T>C	c.(1213-1215)gcT>gcC	p.A405A	RSRC2_ENST00000354654.2_Silent_p.A357A|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	405								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTTCATACTGAGCATCTAAAT	0.398000													51	122					0	0	0.139131	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931156	94931156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:94931156G>A	ENST00000337425.5	-	4	1066	c.992C>T	c.(991-993)tCt>tTt	p.S331F	SERPINA9_ENST00000424550.2_Missense_Mutation_p.S182F|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S233F|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S313F|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S295F|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S231F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	313					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.S331F(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTAGGAGGCAGAAATGGAAAA	0.463000													30	77					0	0	0.144211	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13418	13418	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrM:13418G>A	ENST00000361567.2	+	1	1082	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	361					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AAAAATAGGAGGACTACTCAA	0.448000													5	171					0	0	0.184627	0	0
MYRF	745	broad.mit.edu	37	11	61522909	61522909	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:61522909C>A	ENST00000265460.5	+	1	49	c.14C>A	c.(13-15)cCa>cAa	p.P5Q	MYRF_ENST00000278836.5_Intron|RP11-467L20.10_ENST00000536405.1_lincRNA	NM_013279.2	NP_037411.1			myelin regulatory factor									p.P5Q(2)									CACTGGCTTCCAGCAGGTAAC	0.647000													9	30					0.00448238	0.00477631	0.047766	1	0
NDUFS1	4719	broad.mit.edu	37	2	207003266	207003266	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:207003266C>A	ENST00000233190.5	-	13	1601	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L	NDUFS1_ENST00000423725.1_Silent_p.L388L|NDUFS1_ENST00000449699.1_Silent_p.L445L|NDUFS1_ENST00000455934.2_Silent_p.L459L|NDUFS1_ENST00000457011.1_Silent_p.L329L|NDUFS1_ENST00000440274.1_Silent_p.L409L|NDUFS1_ENST00000432169.1_Silent_p.L334L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	445					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.L445L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GGGAGTCTCCCAGGTGGTCAT	0.408000													19	124					1.15919e-05	1.31931e-05	0.204396	1	0
LVRN	206338	broad.mit.edu	37	5	115339077	115339077	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:115339077G>T	ENST00000357872.4	+	12	2161	c.2037_splice	c.e12+1	p.K679_splice	AQPEP_ENST00000395528.2_Splice_Site_p.K196_splice	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		679					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.K679N(2)									AGGATCCTAAGGTAAGGTTAC	0.294000													13	111					0.000308642	0.000338753	0.132662	1	0
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:48318349G>T	ENST00000435803.1	+	18	7582	c.7558G>T	c.(7558-7560)Gac>Tac	p.D2520Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2520					transport	integral to membrane	ATP binding|ATPase activity	p.D2465Y(2)|p.D2520Y(2)		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						CACATCAATGGACTCCATTGT	0.428000													187	232					4.04138e-74	7.701e-74	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9065905	9065905	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:9065905T>A	ENST00000397910.4	-	3	21744	c.21541A>T	c.(21541-21543)Aca>Tca	p.T7181S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7183	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7181S(4)|p.T2814S(2)		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						GACGCTGCTGTGTTTGTGGAA	0.493000													40	90					0	0	0.246493	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330609	25330609	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:25330609G>T	ENST00000546682.1	+	0	453				SNHG14_ENST00000553108.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CGTCATCCTCGTCGAACTGAG	0.468000													42	133					2.26627e-22	3.64223e-22	0.257332	1	0
UNC5D	137970	broad.mit.edu	37	8	35606200	35606200	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:35606200A>C	ENST00000287272.2	+	11	1735	c.1715A>C	c.(1714-1716)cAg>cCg	p.Q572P	UNC5D_ENST00000404895.2_Missense_Mutation_p.Q641P|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q646P|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q217P|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q636P|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q574P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	641	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.Q636P(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGACACAGCAGGGCAAATGG	0.438000													42	80					0	0	0.246493	0	0
UNK	85451	broad.mit.edu	37	17	73780812	73780812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:73780812G>A	ENST00000293218.3	+	2	79	c.79G>A	c.(79-81)Gac>Aac	p.D27N	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27N(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTCCAGCCGGACATAGAACC	0.647000													9	38					0	0	0.105934	0	0
OR4C46	119749	broad.mit.edu	37	11	51515976	51515976	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:51515976A>T	ENST00000328188.1	+	1	695	c.695A>T	c.(694-696)cAc>cTc	p.H232L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H232L(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGGCAAGGCACAAAGCCCTC	0.483000													34	86					0	0	0.183431	0	0
GLI3	2737	broad.mit.edu	37	7	42005727	42005727	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:42005727C>A	ENST00000395925.3	-	15	3028	c.2944G>T	c.(2944-2946)Ggg>Tgg	p.G982W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	982					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G982W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGGCTCCCCCGTCGCTGCAC	0.746000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				6	12					1.12685e-05	1.28501e-05	0.047766	1	0
EPHA3	2042	broad.mit.edu	37	3	89391035	89391035	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:89391035G>T	ENST00000336596.2	+	5	1326	c.1101G>T	c.(1099-1101)ggG>ggT	p.G367G	EPHA3_ENST00000494014.1_Silent_p.G367G|EPHA3_ENST00000452448.2_Silent_p.G367G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	367	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.G367G(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAATGTGGGTGGAATATAA	0.488000										TSP Lung(6;0.00050)			31	80					8.88839e-20	1.37558e-19	0.153744	1	0
IVL	3713	broad.mit.edu	37	1	152882470	152882470	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:152882470C>T	ENST00000368764.3	+	2	261	c.197C>T	c.(196-198)gCt>gTt	p.A66V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	66					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.A66V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACATGACTGCTGTAAAGGGA	0.542000													56	55					0	0	0.139131	0	0
CDKL1	8814	broad.mit.edu	37	14	50801307	50801307	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:50801307A>G	ENST00000216378.2	-	8	1418	c.774T>C	c.(772-774)tcT>tcC	p.S258S	CDKL1_ENST00000395834.1_Silent_p.S258S|ATP5S_ENST00000358473.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	257	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.S258S(4)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGGCAGGATAAGAGATGTTTG	0.378000													71	211					0	0	0.139131	0	0
LPPR3	79948	broad.mit.edu	37	19	814479	814479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:814479G>T	ENST00000359894.2	-	6	933	c.870C>A	c.(868-870)gaC>gaA	p.D290E	LPPR3_ENST00000520876.3_Missense_Mutation_p.D262E	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		262						integral to membrane	phosphatidate phosphatase activity	p.D290E(2)									CGGCATACACGTCCACAGGGT	0.657000													8	19					0.0809354	0.0830652	0.080935	1	0
CPXM2	119587	broad.mit.edu	37	10	125521438	125521438	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr10:125521438T>A	ENST00000241305.3	-	11	1881	c.1727A>T	c.(1726-1728)cAg>cTg	p.Q576L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	576					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q576L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCCTCCTTCTGGAAGTCCTC	0.667000													16	38					0	0	0.146539	0	0
OR5F1	338674	broad.mit.edu	37	11	55761670	55761670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:55761670C>A	ENST00000278409.1	-	1	431	c.432G>T	c.(430-432)atG>atT	p.M144I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCGGCTGCCATTTTTAGGT	0.498000													23	46					4.54149e-19	6.9007e-19	0.249174	1	0
UNC5A	90249	broad.mit.edu	37	5	176306803	176306803	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176306803C>T	ENST00000329542.4	+	15	2719	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G	UNC5A_ENST00000261961.3_Silent_p.G775G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	815	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.G815G(2)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCAACGGCAACCTCAGCC	0.672000													12	74					0	0	0.132662	0	0
CLYBL	171425	broad.mit.edu	37	13	100425258	100425258	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr13:100425258C>A	ENST00000376355.3	+	2	274	c.243C>A	c.(241-243)aaC>aaA	p.N81K	CLYBL_ENST00000376360.1_Missense_Mutation_p.N81K|CLYBL_ENST00000444838.2_Missense_Mutation_p.N81K|CLYBL_ENST00000339105.4_Missense_Mutation_p.N81K|CLYBL_ENST00000376354.1_Missense_Mutation_p.N81K	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	81					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCTGCAAACAAAAAGGTAA	0.378000													4	87					0.000602214	0.000654824	0.184627	1	0
PTPRH	5794	broad.mit.edu	37	19	55693445	55693445	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:55693445A>T	ENST00000376350.3	-	19	3159	c.3137T>A	c.(3136-3138)cTt>cAt	p.L1046H	PTPRH_ENST00000263434.5_Missense_Mutation_p.L868H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1046	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1046H(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAAGGGCCCAAGGAGACCCTC	0.607000													50	137					0	0	0.139131	0	0
ESPNL	339768	broad.mit.edu	37	2	239040032	239040032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:239040032G>T	ENST00000343063.3	+	9	2940	c.2677G>T	c.(2677-2679)Ggc>Tgc	p.G893C	ESPNL_ENST00000409169.1_Missense_Mutation_p.G849C|ESPNL_ENST00000409506.1_Missense_Mutation_p.G525C|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	893								p.G893C(2)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGCACCCACGGCTGGGAGGC	0.697000													6	10					0.0293803	0.0305284	0.248553	1	0
NFASC	23114	broad.mit.edu	37	1	204970313	204970313	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:204970313C>A	ENST00000367172.4	+	28	3684	c.3356C>A	c.(3355-3357)tCc>tAc	p.S1119Y	NFASC_ENST00000339876.6_Missense_Mutation_p.S1012Y|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.S1104Y|NFASC_ENST00000401399.1_Missense_Mutation_p.S1012Y|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.S1040Y|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1119	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S1012Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATGAGCAGTCCATATGGAAC	0.527000													5	27					0.014758	0.0154444	0.184627	1	0
OR8B4	283162	broad.mit.edu	37	11	124294273	124294273	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:124294273C>A	ENST00000356130.3	-	1	516	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165L(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGAAGGTCAGTCGCAGCA	0.532000													14	27					7.93312e-07	9.37551e-07	0.119110	1	0
ATP1A2	477	broad.mit.edu	37	1	160104960	160104960	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:160104960G>A	ENST00000361216.3	+	15	2079	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G664S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	664					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.G664S(2)		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)			CGTGGTGCACGGCTCTGACCT	0.597000													18	91					0	0	0.204396	0	0
UBA6	55236	broad.mit.edu	37	4	68534382	68534382	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:68534382C>T	ENST00000322244.4	-	9	739	c.680G>A	c.(679-681)gGc>gAc	p.G227D	UBA6_ENST00000420827.2_Missense_Mutation_p.G227D	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	227					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.G227D(2)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGTAACAATGCCAGGATTTGC	0.303000													19	79					0	0	0.175082	0	0
MYH1	4619	broad.mit.edu	37	17	10397739	10397739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:10397739T>A	ENST00000226207.5	-	39	5693	c.5599A>T	c.(5599-5601)Agg>Tgg	p.R1867W	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1867						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1867W(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGGAGCCTGAGAATATTC	0.393000													25	136					0	0	0.108266	0	0
GCSAML	148823	broad.mit.edu	37	1	247737611	247737611	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:247737611T>C	ENST00000366491.2	+	7	772	c.275T>C	c.(274-276)cTt>cCt	p.L92P	GCSAML_ENST00000366488.4_Missense_Mutation_p.L112P|GCSAML_ENST00000536561.1_Missense_Mutation_p.L92P|GCSAML_ENST00000527541.1_Missense_Mutation_p.L80P|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.L80P|GCSAML_ENST00000527084.1_Missense_Mutation_p.L80P|GCSAML_ENST00000366489.1_Missense_Mutation_p.L92P|RP11-978I15.10_ENST00000446347.1_RNA					germinal center-associated, signaling and motility-like									p.L112P(2)									GAATATGCCCTTCTTAGGACT	0.443000													27	104					0	0	0.108266	0	0
MMP3	4314	broad.mit.edu	37	11	102713485	102713485	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:102713485G>A	ENST00000299855.5	-	2	524	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	90					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P90S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCACACCTGGGCTTGCGCATC	0.512000													15	28					0	0	0.132662	0	0
HECW1	23072	broad.mit.edu	37	7	43447290	43447290	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:43447290A>T	ENST00000395891.1	+	8	1366	c.761A>T	c.(760-762)aAg>aTg	p.K254M	HECW1_ENST00000453890.1_Missense_Mutation_p.K254M|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	254	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.K254M(2)|p.K233M(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAGATCCAAGATCATAGGC	0.522000													54	63					0	0	0.139131	0	0
CTPS1	1503	broad.mit.edu	37	1	41453091	41453091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:41453091G>T	ENST00000372621.4	+	4	893	c.385G>T	c.(385-387)Gcg>Tcg	p.A129S	CTPS1_ENST00000543104.1_Missense_Mutation_p.A136S|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Missense_Mutation_p.A129S	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	129					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.A129S(4)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GATGAGACAGGCGTTAATACC	0.433000													15	37					3.52763e-06	4.11089e-06	0.160694	1	0
PTGS1	5742	broad.mit.edu	37	9	125145835	125145835	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:125145835G>T	ENST00000362012.2	+	8	815	c.810G>T	c.(808-810)gtG>gtT	p.V270V	PTGS1_ENST00000223423.4_Silent_p.V270V|PTGS1_ENST00000373698.5_Silent_p.V161V|PTGS1_ENST00000540753.1_Silent_p.V245V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	270					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.V270V(2)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AGGCGCCTGTGTTGATGCACT	0.642000													22	58					5.26018e-13	7.10671e-13	0.234183	1	0
PLCL1	5334	broad.mit.edu	37	2	198950213	198950213	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:198950213G>C	ENST00000428675.1	+	2	2370	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D560H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	658	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D560H(2)|p.D658H(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAATCCACAGGACTTTTGGAA	0.413000													17	72					0	0	0.189662	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947485	57947485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:57947485G>T	ENST00000335397.3	+	3	885	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G190V(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGACCTGTGGGGAGAGCTAC	0.463000													29	111					0.000147802	0.00016438	0.116897	1	0
ANK2	287	broad.mit.edu	37	4	114153332	114153332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:114153332T>A	ENST00000357077.4	+	5	453	c.400T>A	c.(400-402)Tta>Ata	p.L134I	ANK2_ENST00000506722.1_Missense_Mutation_p.L113I|ANK2_ENST00000264366.6_Missense_Mutation_p.L134I|ANK2_ENST00000394537.3_Missense_Mutation_p.L134I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	134					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.L134I(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTTACTCCTTTATACATGGC	0.393000													28	88					0	0	0.116897	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541382	40541382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:40541382G>C	ENST00000434248.1	-	5	1449	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Q314E	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q462E(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGCAATGTTGAATAAGTTGG	0.378000													14	182					0	0	0.132662	0	0
RNF20	56254	broad.mit.edu	37	9	104319803	104319803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:104319803G>T	ENST00000389120.3	+	16	2397	c.2307G>T	c.(2305-2307)aaG>aaT	p.K769N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	769					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	p.K769N(2)		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)		AGCGTATCAAGTCCAATCAGA	0.453000													27	60					3.28513e-13	4.4693e-13	0.294199	1	0
RASGRF2	5924	broad.mit.edu	37	5	80497210	80497210	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:80497210G>A	ENST00000265080.4	+	19	2922	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R952Q(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGTTTTGCGAGACCCAGAC	0.403000													7	127					0	0	0.248553	0	0
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57175250C>T	ENST00000537055.2	-	2	1548	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.T461T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCCCGTGTGCGTGCGCTGGT	0.662000													26	94					0	0	0.294199	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:102964544T>A	ENST00000233954.1	+	9	1381	c.1110T>A	c.(1108-1110)acT>acA	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383000													20	35					0	0	0.234183	0	0
NPSR1	387129	broad.mit.edu	37	7	34867133	34867133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:34867133T>A	ENST00000360581.1	+	5	727	c.599T>A	c.(598-600)cTg>cAg	p.L200Q	NPSR1_ENST00000359791.1_Missense_Mutation_p.L200Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.L200Q|NPSR1_ENST00000381542.1_Missense_Mutation_p.L134Q|NPSR1_ENST00000531252.1_Missense_Mutation_p.L189Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	200						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.L200Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCTGGGCCCTGTGGCCTGAC	0.532000													28	210					0	0	0.134883	0	0
SEPT14	346288	broad.mit.edu	37	7	55912411	55912411	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:55912411C>A	ENST00000388975.3	-	4	292	c.175_splice	c.e4-1	p.G59_splice	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	59					cell cycle|cell division	septin complex	GTP binding|protein binding	p.G59V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCAGTCTCCCCTGTAATAGA	0.343000													5	42					0.014758	0.0154444	0.184627	1	0
AGPAT9	84803	broad.mit.edu	37	4	84516068	84516068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:84516068G>T	ENST00000395226.2	+	8	1027	c.809G>T	c.(808-810)tGg>tTg	p.W270L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.W270L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	270					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.W270L(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTCATGTCTGGTTTGAACGC	0.438000													53	225					6.14515e-18	9.21772e-18	0.139131	1	0
TMTC3	160418	broad.mit.edu	37	12	88589425	88589425	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:88589425A>T	ENST00000266712.6	+	14	2964	c.2744A>T	c.(2743-2745)tAa>tTa	p.*915L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	0						integral to membrane	binding	p.*915L(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGGTGAATAACATTAATAT	0.323000													16	37					0	0	0.146539	0	0
ADAM18	8749	broad.mit.edu	37	8	39581361	39581361	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:39581361C>A	ENST00000265707.5	+	19	2157	c.2112C>A	c.(2110-2112)acC>acA	p.T704T	ADAM18_ENST00000379866.1_Silent_p.T680T|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Silent_p.T118T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	704					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.T704T(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAGTTTTCACCACTGTGATCT	0.308000													41	129					2.19489e-29	3.82146e-29	0.235728	1	0
ZNF835	90485	broad.mit.edu	37	19	57175089	57175089	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:57175089T>C	ENST00000537055.2	-	2	1709	c.1478A>G	c.(1477-1479)cAg>cGg	p.Q493R		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.Q515R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ATGCGTCCTCTGGTGTCGGAT	0.627000													51	232					0	0	0.139131	0	0
ITGA1	3672	broad.mit.edu	37	5	52211398	52211398	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:52211398G>T	ENST00000282588.6	+	15	2420	c.1962G>T	c.(1960-1962)ggG>ggT	p.G654G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	654					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.G654G(2)		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)				TGACTATTGGGGGCCTTGGTG	0.463000													94	186					7.39617e-15	1.02773e-14	0.139131	1	0
GPHN	10243	broad.mit.edu	37	14	67579829	67579829	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:67579829G>T	ENST00000478722.1	+	16	2688	c.1567G>T	c.(1567-1569)Gtc>Ttc	p.V523F	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.V490F|GPHN_ENST00000543237.1_Missense_Mutation_p.V536F|GPHN_ENST00000305960.9_Missense_Mutation_p.V459F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	490	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.V523F(2)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTGTAGGTGTCACAGAGGT	0.468000			T	MLL	AL								27	103					9.04412e-07	1.0667e-06	0.099896	1	0
FBXO16	157574	broad.mit.edu	37	8	28309761	28309761	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:28309761C>A	ENST00000380254.2	-	6	888	c.740_splice	c.e6+1	p.G247_splice	RP11-181B11.2_ENST00000523935.1_RNA|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000346498.2_Splice_Site_p.G235_splice|FBXO16_ENST00000518734.1_Splice_Site_p.G235_splice	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	247								p.G247V(2)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AGCTTCTTACCCTTGCTGGAC	0.403000													15	48					2.62699e-14	3.6245e-14	0.132662	1	0
LRRC4	64101	broad.mit.edu	37	7	127670602	127670602	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:127670602A>G	ENST00000249363.3	-	2	349	c.92T>C	c.(91-93)cTg>cCg	p.L31P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	31						cell junction|integral to membrane|postsynaptic membrane		p.L31P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGCTGCACACAGAATCCACAC	0.622000													79	66					0	0	0.139131	0	0
TRPA1	8989	broad.mit.edu	37	8	72948572	72948572	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:72948572C>A	ENST00000262209.4	-	21	2713	c.2506G>T	c.(2506-2508)Gca>Tca	p.A836S	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	836						integral to plasma membrane		p.A836S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACAGCAATTGCTCCACATTGC	0.348000													18	69					1.37522e-17	2.04189e-17	0.189662	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395968	38395968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:38395968G>T	ENST00000377698.3	+	2	376	c.223G>T	c.(223-225)Gat>Tat	p.D75Y		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGACCGGGCTGATGTGGATCG	0.642000													35	135					3.43241e-23	5.60883e-23	0.279185	1	0
PIWIL2	55124	broad.mit.edu	37	8	22175745	22175745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:22175745G>C	ENST00000356766.6	+	20	2508	c.2360G>C	c.(2359-2361)aGc>aCc	p.S787T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.S787T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.S787T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	787	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.S787T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGTGGACAGCCTGAAGCTA	0.453000													22	67					0	0	0.116897	0	0
HR	55806	broad.mit.edu	37	8	21976735	21976735	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:21976735C>G	ENST00000381418.4	-	15	4519	c.3039G>C	c.(3037-3039)ctG>ctC	p.L1013L	HR_ENST00000312841.8_Silent_p.L1013L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1013	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.L1013L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGATGCTGACCAGGTCGGCCA	0.602000													16	70					0	0	0.146539	0	0
DLAT	1737	broad.mit.edu	37	11	111896296	111896296	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:111896296G>A	ENST00000280346.6	+	1	759	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	DLAT_ENST00000393051.1_Missense_Mutation_p.V34M	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	34					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	p.V34M(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AACTCCACGAGTGACCTCGCG	0.682000													5	58					0	0	0.184627	0	0
FEV	54738	broad.mit.edu	37	2	219846816	219846816	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:219846816T>A	ENST00000295727.1	-	3	871	c.290A>T	c.(289-291)aAc>aTc	p.N97I		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	97					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.N97I(2)	EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTCGTAGTTCATGTTGGG	0.642000			T	"""EWSR1,  FUS"""	Ewing sarcoma								33	52					0	0	0.153744	0	0
ESRP2	80004	broad.mit.edu	37	16	68265245	68265245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:68265245G>A	ENST00000473183.2	-	12	2085	c.1547C>T	c.(1546-1548)aCa>aTa	p.T516I	ESRP2_ENST00000565858.1_Missense_Mutation_p.T526I			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	526	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	p.T516I(4)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CTCTGCTGATGTCATCTGAAT	0.562000													25	27					0	0	0.279207	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585744	178585744	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:178585744A>C	ENST00000251582.7	-	6	1213	c.1112T>G	c.(1111-1113)tTt>tGt	p.F371C	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.F371C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	371	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F371C(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGAAGGCCCAAAGTCCTGCCG	0.627000													15	176					0	0	0.119110	0	0
PCNX	22990	broad.mit.edu	37	14	71413833	71413833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:71413833G>T	ENST00000304743.2	+	2	801	c.355G>T	c.(355-357)Gga>Tga	p.G119*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.G119*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.G119*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	119						integral to membrane		p.G119*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGACAGCAATGGACCGAGGTA	0.373000													7	15					0.00198382	0.00212163	0.248553	1	0
SHPRH	257218	broad.mit.edu	37	6	146247376	146247376	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:146247376T>A	ENST00000367503.3	-	16	3683	c.3285A>T	c.(3283-3285)atA>atT	p.I1095I	SHPRH_ENST00000438092.2_Silent_p.I1095I|SHPRH_ENST00000367505.2_Silent_p.I1086I|SHPRH_ENST00000275233.7_Silent_p.I1086I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1086					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.I1095I(2)		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)		AGGTAGGTGGTATCCCTGGGT	0.378000													35	110					0	0	0.203993	0	0
STXBP5	134957	broad.mit.edu	37	6	147631360	147631360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:147631360C>T	ENST00000367481.3	+	10	1166	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	STXBP5_ENST00000321680.6_Missense_Mutation_p.T353I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T24I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T353I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	353					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.T353I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTGTGTGAAACACCATACCCA	0.353000													24	64					0	0	0.249174	0	0
ZZZ3	26009	broad.mit.edu	37	1	78047770	78047770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:78047770C>A	ENST00000370801.3	-	7	2161	c.1686G>T	c.(1684-1686)ttG>ttT	p.L562F	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.L68F	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L562F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CGATCTCAGGCAATTGAACAA	0.343000													38	163					1.41504e-22	2.28043e-22	0.301197	1	0
MIDN	90007	broad.mit.edu	37	19	1254919	1254919	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:1254919A>T	ENST00000300952.2	+	6	1230	c.715A>T	c.(715-717)Acg>Tcg	p.T239S	MIDN_ENST00000591446.2_Missense_Mutation_p.T239S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	239						nucleolus		p.T239S(2)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTCCCCCACGGCCAGCAG	0.667000													50	110					0	0	0.139131	0	0
TPTE	7179	broad.mit.edu	37	21	10970037	10970037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr21:10970037C>A	ENST00000298232.7	-	6	458	c.91G>T	c.(91-93)Gca>Tca	p.A31S	TPTE_ENST00000361285.4_Missense_Mutation_p.A31S|TPTE_ENST00000342420.5_Missense_Mutation_p.A31S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	31					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A31S(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTCGGTTGCTCCTTTAAAT	0.393000													33	224					2.49991e-28	4.32678e-28	0.183431	1	0
ASPG	374569	broad.mit.edu	37	14	104552111	104552111	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:104552111G>T	ENST00000551177.1	+	1	96	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	ASPG_ENST00000455920.2_Missense_Mutation_p.A2S|ASPG_ENST00000546892.2_Missense_Mutation_p.A2S	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	2					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.A2S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCCGGCATGGCGCGCGCGGT	0.771000													7	7					0.00136819	0.00147402	0.093190	1	0
CDH6	1004	broad.mit.edu	37	5	31323317	31323317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:31323317G>T	ENST00000265071.2	+	12	2540	c.2275G>T	c.(2275-2277)Gat>Tat	p.D759Y		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	759					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D759Y(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGACCACGGATGCAGATCA	0.537000													25	98					5.35356e-11	6.94419e-11	0.264190	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202406948	202406948	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:202406948G>T	ENST00000406302.3	+	10	1407		c.e10-1		PPP1R12B_ENST00000480184.1_Splice_Site|PPP1R12B_ENST00000356764.2_Splice_Site|PPP1R12B_ENST00000336894.4_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCTCTCATAGTTCTCTTCTG	0.408000													24	113					9.95505e-16	1.42042e-15	0.249174	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020658	33020658	+	RNA	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:33020658G>C	ENST00000565407.2	+	0	66				RP11-19N8.2_ENST00000567619.1_RNA														p.Q22H(2)									GTGAGGTGCAGCTGGTGGAGT	0.547000													61	88					0	0	0.139131	0	0
SLC12A2	6558	broad.mit.edu	37	5	127483407	127483407	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:127483407C>T	ENST00000262461.2	+	11	2056	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P623S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	623					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	p.P623S(2)		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)	AGTGAGTGCTCCCAAAATATT	0.323000													20	197					0	0	0.189662	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638158	19638158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:19638158G>T	ENST00000555938.1	+	3	254	c.242G>T	c.(241-243)cGg>cTg	p.R81L	CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R164L|NDUFA13_ENST00000507754.3_Missense_Mutation_p.R81L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.R81L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.R81L														p.R164L(2)									GAAACCGACCGGAGGTAGCAC	0.632000													5	40					0.0215528	0.0224348	0.217242	1	0
ERLEC1	27248	broad.mit.edu	37	2	54045035	54045035	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:54045035G>A	ENST00000185150.4	+	14	1512	c.1380_splice	c.e14-1	p.V461_splice	ERLEC1_ENST00000378239.5_Splice_Site_p.V407_splice|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Splice_Site_p.V435_splice	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	461					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.V461I(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTTCTTTAGGTTGAATCTCC	0.338000													22	74					0	0	0.264190	0	0
TAAR2	9287	broad.mit.edu	37	6	132938808	132938808	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:132938808G>T	ENST00000275191.2	-	1	509	c.402C>A	c.(400-402)gtC>gtA	p.V134V	TAAR2_ENST00000367931.1_Silent_p.V179V|TAAR2_ENST00000537809.1_Silent_p.V134V	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	179						plasma membrane	G-protein coupled receptor activity	p.V179V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTCTGAGAAGACCACCCCGA	0.463000													34	46					1.99505e-19	3.05525e-19	0.163468	1	0
ITCH	83737	broad.mit.edu	37	20	33067498	33067498	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr20:33067498A>T	ENST00000374864.4	+	18	1935	c.1722A>T	c.(1720-1722)gcA>gcT	p.A574A	ITCH_ENST00000262650.6_Silent_p.A615A|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.A464A	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	615	HECT.|MAP kinase docking site (By similarity).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.A574A(2)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTGAATATGCAGGGAAGGATA	0.353000													35	129					0	0	0.173368	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854852	21854852	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:21854852C>T	ENST00000415645.2	-	4	439	c.400G>A	c.(400-402)Gga>Aga	p.G134R	NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.G134R					nuclear pore complex interacting protein family, member B4									p.G1454R(2)									ATTTTATTTCCTCGAAAGGAA	0.423000													33	491					0	0	0.183431	0	0
UPF1	5976	broad.mit.edu	37	19	18968170	18968170	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:18968170G>C	ENST00000262803.5	+	15	2282	c.2010G>C	c.(2008-2010)gtG>gtC	p.V670V	UPF1_ENST00000599848.1_Silent_p.V681V	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	681					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.V670V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCAGTGGTGATGTGCAAGA	0.627000													29	118					0	0	0.125774	0	0
GALR1	2587	broad.mit.edu	37	18	74963085	74963085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr18:74963085C>A	ENST00000299727.3	+	1	581	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGCCCGACCCTCGCCACAAG	0.662000													26	90					1.32181e-22	2.13607e-22	0.125774	1	0
LAMA2	3908	broad.mit.edu	37	6	129649485	129649485	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:129649485C>G	ENST00000421865.2	+	29	4288	c.4239C>G	c.(4237-4239)acC>acG	p.T1413T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1413	Laminin EGF-like 14; second part.				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.T1413T(2)		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)		CTGGACCAACCCTGGGCACCT	0.517000													50	90					0	0	0.139131	0	0
CUX1	1523	broad.mit.edu	37	7	101870904	101870904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:101870904G>T	ENST00000360264.3	+	21	3441	c.3421G>T	c.(3421-3423)Ggc>Tgc	p.G1141C	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1108C|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G1074C|CUX1_ENST00000546411.2_Missense_Mutation_p.G1028C|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.G972C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1130C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1130					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G1130C(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGACACCTACGGCATAACCAA	0.607000													26	82					3.69857e-22	6.1332e-22	0.008361	1	0
HPCAL4	51440	broad.mit.edu	37	1	40148339	40148339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:40148339G>T	ENST00000372844.3	-	4	836	c.445C>A	c.(445-447)Cag>Aag	p.Q149K		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	149	EF-hand 4.				central nervous system development	intracellular	calcium ion binding	p.Q149K(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCACACGCTGCTGGGGCGTG	0.547000													52	129					6.3008e-33	1.11679e-32	0.003610	1	0
ACOX3	8310	broad.mit.edu	37	4	8418165	8418165	+	Silent	SNP	C	C	T	rs35092737	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:8418165C>T	ENST00000356406.5	-	2	161	c.84G>A	c.(82-84)gcG>gcA	p.A28A	ACOX3_ENST00000413009.2_Silent_p.A28A|ACOX3_ENST00000503233.1_Silent_p.A28A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	28					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.A28A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGCTGAAGGACGCTCTTGCTC	0.607000													16	132					0	0	0.004007	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30882156	30882156	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:30882156C>T	ENST00000251071.5	-	8	1958	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R403H|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R403H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R403H|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R70H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	403					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.R403H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATATCCCAACGTTTTGGGAG	0.443000													28	85					0	0	0.008361	0	0
RBAK	57786	broad.mit.edu	37	7	5103997	5103997	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:5103997C>T	ENST00000396912.1	+	5	1429	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.L304F|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	304					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L304F(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAGGGAACCCTCACTGTACA	0.418000													18	59					0	0	0.004990	0	0
AKAP1	8165	broad.mit.edu	37	17	55193622	55193622	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:55193622G>C	ENST00000337714.3	+	7	2665	c.2432_splice	c.e7+1	p.R811_splice	AKAP1_ENST00000539273.1_Splice_Site_p.R811_splice|AKAP1_ENST00000572557.1_Splice_Site_p.R811_splice|AKAP1_ENST00000571629.1_Splice_Site_p.R811_splice	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	811	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.R811T(2)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGGCAAATCAGGTGAGCGGAG	0.572000													26	101					0	0	0.004656	0	0
ANK1	286	broad.mit.edu	37	8	41581079	41581079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:41581079C>A	ENST00000396942.1	-	8	867	c.784G>T	c.(784-786)Gga>Tga	p.G262*	ANK1_ENST00000347528.4_Nonsense_Mutation_p.G262*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.G262*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.G262*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.G262*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.G262*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.G295*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	262	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G295*(2)|p.G262*(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATCTGGGCTCCCCGATCCAGC	0.652000													23	75					1.10513e-12	1.57648e-12	0.002299	1	0
OR6C74	254783	broad.mit.edu	37	12	55641435	55641435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:55641435G>T	ENST00000343870.4	+	1	454	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122L(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAGCGCTATGTGGCCATCTG	0.463000													57	137					2.67592e-24	4.5391e-24	0.003610	1	0
MSRB2	22921	broad.mit.edu	37	10	23409753	23409753	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:23409753A>C	ENST00000376510.3	+	5	614	c.511A>C	c.(511-513)Aac>Cac	p.N171H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	171					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N171H(2)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GTTTTGCATCAACAGTGTGGC	0.493000													17	39					0	0	0.006122	0	0
MBTPS1	8720	broad.mit.edu	37	16	84103628	84103628	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:84103628C>G	ENST00000343411.3	-	14	2293	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	600					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.E600Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAGTCTGTTCTGCACCATTT	0.393000													55	114					0	0	0.003610	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812210	140812210	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140812210G>T	ENST00000252085.3	+	1	2026	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.T628T(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.687000													19	135					1.28384e-07	1.59336e-07	0.001882	1	0
TSPAN32	10077	broad.mit.edu	37	11	2337896	2337896	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:2337896C>A	ENST00000182290.4	+	8	855	c.719_splice	c.e8+1	p.R240_splice	TSPAN32_ENST00000381121.3_Splice_Site_p.R240_splice|TSPAN32_ENST00000451520.2_Splice_Site_p.R229_splice	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	240					cell-cell signaling	integral to membrane		p.R240R(2)|p.R240*(1)		breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGACCCCACGGTAGGGCCC	0.657000													15	49					0.000566183	0.000625337	0.004990	1	0
HPS5	11234	broad.mit.edu	37	11	18301447	18301447	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:18301447G>C	ENST00000396253.3	-	22	3492	c.3030C>G	c.(3028-3030)ctC>ctG	p.L1010L	HPS5_ENST00000438420.2_Silent_p.L1010L|HPS5_ENST00000349215.3_Silent_p.L1124L|HPS5_ENST00000537258.1_3'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1124						cytosol		p.L1124L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGGGACCAGAGAAACCGAT	0.403000									Hermansky-Pudlak syndrome				14	47					0	0	0.003163	0	0
TSTD2	158427	broad.mit.edu	37	9	100364923	100364923	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:100364923T>C	ENST00000341170.4	-	10	1761	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R	TSTD2_ENST00000375172.2_Intron|TSTD2_ENST00000375173.1_Missense_Mutation_p.Q56R	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	460								p.Q460R(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CCCCTTGTCTTGACATGTGAC	0.537000													6	310					0	0	0.004482	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731096	140731096	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140731096G>A	ENST00000523390.1	+	1	1269	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.K423K(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGACAAGGGCAAACCAG	0.517000													53	41					0	0	0.003610	0	0
CCDC8	83987	broad.mit.edu	37	19	46914764	46914764	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:46914764C>G	ENST00000307522.3	-	1	2077	c.1304G>C	c.(1303-1305)gGc>gCc	p.G435A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	435						plasma membrane		p.G435A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCTCTGGCCAGCCCGGGC	0.597000													37	83					0	0	0.004878	0	0
LOC440700	440700	broad.mit.edu	37	1	165678714	165678714	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:165678714C>G	ENST00000400982.2	+	0	725					NR_036683.1																						ATCAGAAGAGCGTGGTCATCA	0.512000													7	27					0	0	0.003080	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:36677103G>T	ENST00000265113.4	+	6	1153	c.677G>T	c.(676-678)cGa>cTa	p.R226L	SLC1A3_ENST00000381918.3_Missense_Mutation_p.R226L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	226					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R226Q(2)|p.R226L(2)		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)	ACTCTTACCCGAATCACAGAG	0.488000													16	58					3.45872e-05	3.96814e-05	0.004007	1	0
LSP1	4046	broad.mit.edu	37	11	1904695	1904695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:1904695C>A	ENST00000406638.2	+	4	1519	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	LSP1_ENST00000381775.1_Missense_Mutation_p.L263M|LSP1_ENST00000405957.2_Missense_Mutation_p.L73M|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.L135M	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	135					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.L135M(2)|p.L73M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGAAGTCCACCTGGAGGAGTT	0.607000													13	84					7.93312e-07	9.70332e-07	0.002450	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43629263	43629263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:43629263C>G	ENST00000332857.6	-	2	275	c.247_splice	c.e2+1	p.A83_splice		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.A83P(2)									AGAGCCTTACCTCTCAGACTG	0.547000													65	72					0	0	0.003610	0	0
MPPED2	744	broad.mit.edu	37	11	30435814	30435814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30435814C>A	ENST00000448418.2	-	6	1087	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000358117.5_Missense_Mutation_p.V243F	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	243					nervous system development		hydrolase activity|metal ion binding	p.V243F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TTGGGCCGGACTCGCCTCTGA	0.473000													8	53					1.12685e-05	1.30803e-05	0.004482	1	0
ANK1	286	broad.mit.edu	37	8	41551533	41551533	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:41551533G>A	ENST00000396942.1	-	29	3498	c.3415C>T	c.(3415-3417)Cgg>Tgg	p.R1139W	ANK1_ENST00000347528.4_Missense_Mutation_p.R1139W|ANK1_ENST00000289734.7_Missense_Mutation_p.R1139W|ANK1_ENST00000352337.4_Missense_Mutation_p.R1139W|ANK1_ENST00000396945.1_Missense_Mutation_p.R1139W|ANK1_ENST00000379758.2_Missense_Mutation_p.R1139W|ANK1_ENST00000265709.8_Missense_Mutation_p.R1180W			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1139					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1180W(2)|p.R1139W(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAACTTCCGGCGCCGGGGC	0.642000													17	66					0	0	0.006122	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604515	160604515	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:160604515G>T	ENST00000302035.6	-	3	937	c.588C>A	c.(586-588)ctC>ctA	p.L196L	SLAMF1_ENST00000235739.5_Silent_p.L196L|SLAMF1_ENST00000355199.3_Silent_p.L196L|SLAMF1_ENST00000538290.1_Silent_p.L196L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	196	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.L196L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCCGAGGGTGAGGGACAGGA	0.602000													118	59					1.39881e-40	2.57973e-40	0.003610	1	0
EEF2K	29904	broad.mit.edu	37	16	22268069	22268069	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:22268069G>T	ENST00000263026.5	+	7	1093	c.618_splice	c.e7-1	p.V207_splice		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	207	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.V207L(4)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATCCCACCAGGTGGACATCAT	0.617000													9	47					3.86212e-05	4.38844e-05	0.008291	1	0
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:122002901C>A	ENST00000498619.1	+	7	2568	c.2130C>A	c.(2128-2130)aaC>aaA	p.N710K	CASR_ENST00000490131.1_Missense_Mutation_p.N700K|CASR_ENST00000296154.5_Missense_Mutation_p.N700K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	700					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAAAACCAACCGTGTCCTCC	0.602000													29	115					1.7881e-09	2.35235e-09	0.008361	1	0
VGLL3	389136	broad.mit.edu	37	3	87017756	87017756	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:87017756G>C	ENST00000398399.2	-	3	1284	c.921C>G	c.(919-921)agC>agG	p.S307R	VGLL3_ENST00000383698.3_Missense_Mutation_p.S307R	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S307R(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGAATCCCACGCTGGGCACTA	0.418000													14	59					0	0	0.003163	0	0
CHD4	1108	broad.mit.edu	37	12	6709107	6709107	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:6709107C>A	ENST00000309577.6	-	10	1477	c.1314G>T	c.(1312-1314)ggG>ggT	p.G438G	CHD4_ENST00000357008.2_Silent_p.G438G|CHD4_ENST00000544484.1_Silent_p.G435G|CHD4_ENST00000544040.1_Silent_p.G431G			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	438					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.G438G(4)		central_nervous_system(2)	2						CGAGGTCTCCCCCAACCTCTT	0.522000													137	379					1.35588e-38	2.49279e-38	0.003610	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54913116	54913116	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:54913116G>T	ENST00000474759.1	+	19	1830	c.1782_splice	c.e19+1	p.G594_splice	CACNA2D3_ENST00000288197.5_Splice_Site_p.G594_splice|CACNA2D3_ENST00000490478.1_Splice_Site_p.G500_splice|CACNA2D3_ENST00000415676.2_Splice_Site_p.G594_splice|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	594						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G594G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGACAAAGGGGTACATTTTT	0.343000													10	31					5.16669e-11	7.08027e-11	0.000978	1	0
TFPI2	7980	broad.mit.edu	37	7	93518469	93518469	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:93518469T>C	ENST00000222543.5	-	3	650	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	113	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.Y113C(2)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTAAAGAAATACTTTTCTGT	0.443000													55	183					0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:1262039G>T	ENST00000348261.5	+	25	4908	c.4660G>T	c.(4660-4662)Gtg>Ttg	p.V1554L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632000													64	205					2.18329e-32	3.84674e-32	0.003610	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897911	72897911	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:72897911G>T	ENST00000308744.6	+	1	391	c.293G>T	c.(292-294)cGg>cTg	p.R98L	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R98L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	98					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.R98L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGGCTCGCCGGGAGAGGTAA	0.622000													19	13					1.22574e-08	1.58091e-08	0.002299	1	0
SPTA1	6708	broad.mit.edu	37	1	158585087	158585087	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:158585087A>T	ENST00000368148.3	-	48	6887	c.6707T>A	c.(6706-6708)aTt>aAt	p.I2236N	SPTA1_ENST00000368147.3_Missense_Mutation_p.I2233N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2236					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I2236N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAATCCAATGGTGCTGTA	0.532000													6	293					0	0	0.001984	0	0
AQP9	366	broad.mit.edu	37	15	58465266	58465266	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:58465266G>T	ENST00000219919.4	+	3	608		c.e3-1		ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Splice_Site|AQP9_ENST00000536493.1_Splice_Site	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9						cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCCCTTGCAGGTGGTCACAT	0.463000													95	224					2.01602e-52	3.78884e-52	0.003610	1	0
GRSF1	2926	broad.mit.edu	37	4	71691024	71691024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:71691024C>A	ENST00000254799.6	-	8	1499	c.1382G>T	c.(1381-1383)cGg>cTg	p.R461L	GRSF1_ENST00000439371.1_Missense_Mutation_p.R299L|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.R299L|GRSF1_ENST00000545193.1_Missense_Mutation_p.R343L	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	461	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R461L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AACGTGGGACCGATCCTTGAG	0.443000													24	28					1.42536e-11	1.97152e-11	0.004656	1	0
RXFP3	51289	broad.mit.edu	37	5	33937086	33937086	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:33937086C>A	ENST00000330120.3	+	1	596	c.241C>A	c.(241-243)Cgg>Agg	p.R81R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	81						integral to plasma membrane	N-formyl peptide receptor activity	p.R81R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCCGGGTGCGGATTCTCAT	0.687000													15	63					2.31682e-05	2.66322e-05	0.003163	1	0
CAPN11	11131	broad.mit.edu	37	6	44150906	44150906	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:44150906G>A	ENST00000542245.1	+	21	2106	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	CAPN11_ENST00000398776.1_Missense_Mutation_p.D690N			Q9UMQ6	CAN11_HUMAN	calpain 11	690	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.D690N(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTATGCAGATGATGACCT	0.522000													33	109					0	0	0.002445	0	0
CMAS	55907	broad.mit.edu	37	12	22208545	22208545	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:22208545G>T	ENST00000229329.2	+	3	689		c.e3+1			NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase						lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	p.?(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGAGGTAATCTCTTT	0.343000													18	34					3.51602e-12	4.93242e-12	0.008871	1	0
ANK3	288	broad.mit.edu	37	10	61833765	61833765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:61833765C>A	ENST00000280772.1	-	37	7065	c.6874G>T	c.(6874-6876)Ggt>Tgt	p.G2292C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2292					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G2292C(2)|p.G2292S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAACAGACCTGCCAGTTCT	0.493000													44	127					2.56175e-15	3.8886e-15	0.003610	1	0
LRFN3	79414	broad.mit.edu	37	19	36430769	36430769	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:36430769G>T	ENST00000588831.1	+	3	1496	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	LRFN3_ENST00000246529.3_Missense_Mutation_p.A148S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	148					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		p.A148S(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGCTGGCGGCCGGCGCCCT	0.677000													12	30					1.52009e-12	2.15802e-12	0.003163	1	0
LDHA	3939	broad.mit.edu	37	11	18425271	18425271	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:18425271G>C	ENST00000422447.3	+	6	896	c.623G>C	c.(622-624)gGt>gCt	p.G208A	LDHA_ENST00000227157.4_Missense_Mutation_p.G208A|LDHA_ENST00000430553.2_Missense_Mutation_p.G150A|LDHA_ENST00000379412.5_Missense_Mutation_p.G208A|LDHA_ENST00000396222.2_Missense_Mutation_p.G208A|LDHA_ENST00000542179.1_Missense_Mutation_p.G208A|LDHA_ENST00000540430.1_Missense_Mutation_p.G237A	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	208					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	AATGTTGCTGGTGTCTCTCTG	0.378000													3	201					0	0	0.009096	0	0
ZFAND1	79752	broad.mit.edu	37	8	82615028	82615028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:82615028T>A	ENST00000220669.5	-	8	727	c.709A>T	c.(709-711)Aag>Tag	p.K237*	ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000521895.1_Nonstop_Mutation_p.*127L|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.K230*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	237							zinc ion binding	p.K237*(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAATCCTCCTTAGCAATCCAG	0.353000													41	108					0	0	0.003214	0	0
COL26A1	136227	broad.mit.edu	37	7	101183242	101183242	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:101183242T>G	ENST00000313669.7	+	0	708				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.T172T(2)									CCGAGAGCACTCCGCCGACCT	0.657000													33	25					0	0	0.004878	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629414	156629414	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:156629414A>G	ENST00000296518.7	+	5	553	c.344A>G	c.(343-345)gAa>gGa	p.E115G	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E115G|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E115G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	115					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.E115G(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGACTTTGAAAAAACAATT	0.279000													16	40					0	0	0.004990	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:170216488C>A	ENST00000231706.4	-	4	1042	c.727G>T	c.(727-729)Gag>Tag	p.E243*	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	243						integral to membrane	amino acid transmembrane transporter activity	p.E243*(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517000													24	65					1.17739e-12	1.67552e-12	0.005443	1	0
MAT1A	4143	broad.mit.edu	37	10	82036276	82036276	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:82036276C>A	ENST00000372213.3	-	6	884	c.624G>T	c.(622-624)caG>caT	p.Q208H		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	208					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.Q208H(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTCGTTGTGCTGCACAGAGA	0.582000													43	173					9.84934e-19	1.59312e-18	0.002522	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18491482	18491482	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:18491482G>T	ENST00000433979.1	+	9	1511	c.1395_splice	c.e9+1	p.E465_splice	PIK3C2G_ENST00000535651.1_Splice_Site_p.E465_splice|PIK3C2G_ENST00000266497.5_Splice_Site_p.E465_splice|PIK3C2G_ENST00000538779.1_Splice_Site_p.E465_splice	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	465					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E465D(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAAAGGAGAGGTAAGTACAT	0.313000													16	44					1.56452e-12	2.21579e-12	0.007413	1	0
UGT2B15	7366	broad.mit.edu	37	4	69535962	69535962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:69535962G>T	ENST00000338206.5	-	1	384	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	125					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.N125K(2)									TACAGAGCTTGTTACTGTAGT	0.328000													21	94					2.37509e-13	3.44621e-13	0.010504	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22863618	22863618	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:22863618G>T	ENST00000251822.6	+	4	979	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.D155Y|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.D170Y|RHOBTB2_ENST00000523918.1_3'UTR	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.D148Y(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCGCTACGCTGACCTGGAGGC	0.597000													101	372					2.14978e-47	4.01474e-47	0.003610	1	0
ALK	238	broad.mit.edu	37	2	29551229	29551229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:29551229C>A	ENST00000389048.3	-	6	2307	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	467	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E467D(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACATCTGGCTCTCATCTTCTC	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				27	71					6.38683e-12	8.93854e-12	0.008361	1	0
STAT1	6772	broad.mit.edu	37	2	191841713	191841713	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:191841713C>T	ENST00000361099.3	-	22	2299	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	STAT1_ENST00000392322.3_Missense_Mutation_p.E638K|STAT1_ENST00000409465.1_Missense_Mutation_p.E638K|STAT1_ENST00000392323.2_Missense_Mutation_p.E640K|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	638	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E638K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCAGAAAGTTCTTTCTTCGTG	0.398000													15	129					0	0	0.004007	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631831	122631831	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:122631831A>G	ENST00000195173.4	-	18	2884	c.2581T>C	c.(2581-2583)Tgg>Cgg	p.W861R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.W916R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.W862R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	862	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.W916R(2)|p.W862R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGACGACCACGGGCCCCAG	0.746000													8	25					0	0	0.004482	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212536	35212536	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:35212536A>G	ENST00000274938.7	+	18	2349	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P	SCUBE3_ENST00000394681.1_Silent_p.P799P	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	783					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	p.P783P(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCCGCTGTCCAGGAAACACAA	0.577000													48	175					0	0	0.003610	0	0
LONP2	83752	broad.mit.edu	37	16	48303941	48303941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:48303941A>T	ENST00000285737.4	+	7	1090	c.997A>T	c.(997-999)Agg>Tgg	p.R333W	LONP2_ENST00000535754.1_Missense_Mutation_p.R289W	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	333					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.R333W(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGACATTAGGGCAGCCCG	0.383000													22	97					0	0	0.004656	0	0
PTPRR	5801	broad.mit.edu	37	12	71054802	71054802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:71054802G>T	ENST00000283228.2	-	12	2136	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.Q450K|PTPRR_ENST00000440835.2_Missense_Mutation_p.Q317K|PTPRR_ENST00000378778.1_Missense_Mutation_p.Q356K|PTPRR_ENST00000549308.1_Missense_Mutation_p.Q317K	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	562	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q562K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGAGGGGCTGGGCACTGTCT	0.532000													8	21					1.12685e-05	1.30803e-05	0.004482	1	0
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144998070C>A	ENST00000322810.4	-	31	6607	c.6438G>T	c.(6436-6438)gaG>gaT	p.E2146D	PLEC_ENST00000357649.2_Missense_Mutation_p.E2013D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2036D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2032D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2009D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2009D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1995D|PLEC_ENST00000398774.2_Missense_Mutation_p.E1977D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1987D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2146	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2009D(2)|p.E2036D(2)|p.E2146D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGACTTCCTCCAGCGCCG	0.756000													3	10					0.00307968	0.00332089	0.003080	1	0
TRIO	7204	broad.mit.edu	37	5	14461326	14461326	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:14461326A>G	ENST00000344204.4	+	35	5426	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	TRIO_ENST00000537187.1_Missense_Mutation_p.K1801R|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1801					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.K1801R(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAAGCACAAGAAGAGCCGC	0.706000													3	6					0	0	0.009096	0	0
OR5M8	219484	broad.mit.edu	37	11	56258462	56258462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56258462G>T	ENST00000327216.2	-	1	409	c.385C>A	c.(385-387)Ctg>Atg	p.L129M		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L129M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCATAAAGCAGAGGGTTGCAG	0.517000													18	51					1.85244e-09	2.43159e-09	0.003330	1	0
TPBG	7162	broad.mit.edu	37	6	83074867	83074867	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:83074867C>T	ENST00000369750.3	+	2	806	c.189C>T	c.(187-189)ccC>ccT	p.P63P	TPBG_ENST00000535040.1_Silent_p.P63P|TPBG_ENST00000543496.1_Silent_p.P63P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	63	LRRNT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		ACCAGTGCCCCGCGCTGTGCG	0.692000													3	10					0	0	0.004672	0	0
CD163	9332	broad.mit.edu	37	12	7647772	7647772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:7647772C>A	ENST00000359156.4	-	6	1527	c.1325G>T	c.(1324-1326)tGt>tTt	p.C442F	CD163_ENST00000541972.1_Missense_Mutation_p.C430F|CD163_ENST00000396620.3_Missense_Mutation_p.C442F|CD163_ENST00000432237.2_Missense_Mutation_p.C442F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	442	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.C442F(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCGTTACAGCTACTTAG	0.448000													68	170					2.18329e-32	3.84674e-32	0.003610	1	0
TMC2	117532	broad.mit.edu	37	20	2597907	2597907	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:2597907G>A	ENST00000358864.1	+	16	2145	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	710						integral to membrane		p.V710V(2)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTGCCGGTGGCCTACACCA	0.622000													15	44					0	0	0.003330	0	0
FCHO2	115548	broad.mit.edu	37	5	72383455	72383455	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:72383455G>A	ENST00000430046.2	+	25	2401	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	FCHO2_ENST00000341845.6_Missense_Mutation_p.G762E|FCHO2_ENST00000512348.1_Missense_Mutation_p.G729E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	762								p.G762E(4)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CTTTCAGAAGGACCTAGTAAA	0.423000													16	57					0	0	0.003163	0	0
LRFN5	145581	broad.mit.edu	37	14	42356354	42356354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:42356354C>A	ENST00000554171.1	+	5	2958	c.526C>A	c.(526-528)Ctt>Att	p.L176I	LRFN5_ENST00000298119.4_Missense_Mutation_p.L176I|LRFN5_ENST00000554120.1_Missense_Mutation_p.L176I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	176						integral to membrane		p.L176I(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTGCATACCCTTAGTTTGGA	0.408000										HNSCC(30;0.082)			8	39					0.00307968	0.00332089	0.003080	1	0
FPR2	2358	broad.mit.edu	37	19	52272906	52272906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:52272906C>A	ENST00000598776.1	+	2	1767	c.995C>A	c.(994-996)aCt>aAt	p.T332N	FPR2_ENST00000340023.6_Missense_Mutation_p.T332N|FPR2_ENST00000598953.1_Missense_Mutation_p.T332N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	332					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T332N(2)|p.T332I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAGCCCCAACTAATGACACG	0.537000													16	40					1.01871e-10	1.38958e-10	0.008871	1	0
TRPS1	7227	broad.mit.edu	37	8	116631413	116631413	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:116631413C>A	ENST00000395715.3	-	3	1489	c.912G>T	c.(910-912)ctG>ctT	p.L304L	TRPS1_ENST00000520276.1_Silent_p.L295L|TRPS1_ENST00000519674.1_Silent_p.L291L|TRPS1_ENST00000519076.1_Silent_p.L245L|TRPS1_ENST00000220888.5_Silent_p.L291L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	291					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L304L(2)|p.L291L(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGATGTCCTGCAGCACACCAG	0.418000									Langer-Giedion syndrome				19	48					3.51602e-12	4.93242e-12	0.008871	1	0
GRM1	2911	broad.mit.edu	37	6	146720744	146720744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:146720744C>A	ENST00000392299.2	+	8	3039	c.2569C>A	c.(2569-2571)Cgc>Agc	p.R857S	GRM1_ENST00000355289.4_Missense_Mutation_p.R857S|GRM1_ENST00000492807.2_Missense_Mutation_p.R857S|GRM1_ENST00000282753.1_Missense_Mutation_p.R857S|GRM1_ENST00000507907.1_Missense_Mutation_p.R857S|GRM1_ENST00000361719.2_Missense_Mutation_p.R857S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	857					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R857S(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGATGTTGTCCGCATGCATGT	0.527000													12	42					7.03913e-09	9.09861e-09	0.001368	1	0
L1CAM	3897	broad.mit.edu	37	X	153130579	153130579	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:153130579C>A	ENST00000370060.1	-	22	3025	c.2836G>T	c.(2836-2838)Ggc>Tgc	p.G946C	L1CAM_ENST00000543994.1_Missense_Mutation_p.G948C|L1CAM_ENST00000370057.3_Missense_Mutation_p.G946C|L1CAM_ENST00000538883.1_Missense_Mutation_p.G948C|L1CAM_ENST00000370055.1_Missense_Mutation_p.G941C|L1CAM_ENST00000361981.3_Missense_Mutation_p.G941C|L1CAM_ENST00000361699.4_Missense_Mutation_p.G946C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	946	Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGCACGCCGTTGTGGCTG	0.711000													10	18					1.15088e-07	1.43436e-07	0.004007	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111591	142111591	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142111591T>G	ENST00000390378.1	-	0	144																											GACACACTGGTGTGCCCAGAG	0.532000													84	65					0	0	0.003610	0	0
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:44587938G>A	ENST00000322927.2	-	15	2255	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R564C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R719C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657000													31	80					0	0	0.003755	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303881	151303881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:151303881G>T	ENST00000370323.4	-	4	528	c.212C>A	c.(211-213)cCa>cAa	p.P71Q	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P71Q|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	71								p.P71Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCTCCTCTGGGGTGCTTGG	0.532000													112	163					2.68928e-46	5.00645e-46	0.003610	1	0
CLCA4	22802	broad.mit.edu	37	1	87012868	87012868	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:87012868C>A	ENST00000370563.3	+	1	108	c.66C>A	c.(64-66)tcC>tcA	p.S22S		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	22						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.S22S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATACTTCCTTCATTAAGC	0.363000													29	74					1.75199e-13	2.54834e-13	0.007291	1	0
TMEM66	51669	broad.mit.edu	37	8	29924385	29924385	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:29924385A>G	ENST00000256255.6	-	4	1007	c.750T>C	c.(748-750)ttT>ttC	p.F250F	TMEM66_ENST00000545648.1_Silent_p.F78F|TMEM66_ENST00000536273.1_Silent_p.F78F	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	250						integral to membrane		p.F250F(2)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GTTGTCCTGTAAAAGCACTGC	0.398000													63	153					0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:164733862G>C	ENST00000264382.3	-	32	3828	c.3766C>G	c.(3766-3768)Cag>Gag	p.Q1256E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGTACTGAACATCCTGA	0.333000										HNSCC(35;0.089)			4	72					0	0	0.009096	0	0
FREM1	158326	broad.mit.edu	37	9	14812842	14812842	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:14812842A>T	ENST00000380881.4	-	17	3679	c.2864T>A	c.(2863-2865)gTt>gAt	p.V955D	FREM1_ENST00000380880.3_Missense_Mutation_p.V954D|FREM1_ENST00000422223.2_Missense_Mutation_p.V954D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	954					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V955D(2)		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)		CTCTGAGATAACATCTCTCTG	0.507000													78	206					0	0	0.003610	0	0
CSAD	51380	broad.mit.edu	37	12	53555112	53555112	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:53555112G>T	ENST00000267085.4	-	11	1078	c.845C>A	c.(844-846)cCc>cAc	p.P282H	CSAD_ENST00000444623.1_Missense_Mutation_p.P255H|CSAD_ENST00000379846.1_Missense_Mutation_p.P108H|CSAD_ENST00000453446.2_Missense_Mutation_p.P255H|CSAD_ENST00000379843.3_Missense_Mutation_p.P108H	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	255					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGCCTCCAGGGGGTCAAAGGC	0.587000													5	202					0.00198382	0.0021549	0.001984	1	0
CDKL1	8814	broad.mit.edu	37	14	50801307	50801307	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:50801307A>G	ENST00000216378.2	-	8	1418	c.774T>C	c.(772-774)tcT>tcC	p.S258S	CDKL1_ENST00000395834.1_Silent_p.S258S|ATP5S_ENST00000358473.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	257	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.S258S(4)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGGCAGGATAAGAGATGTTTG	0.378000													83	239					0	0	0.003610	0	0
THUMPD1	55623	broad.mit.edu	37	16	20748250	20748250	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:20748250T>A	ENST00000381337.2	-	4	1358	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	THUMPD1_ENST00000396083.2_Silent_p.A338A|THUMPD1_ENST00000431224.2_Silent_p.A424A	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	338								p.A338A(2)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGGCTTGACTTGCAAGTTCAG	0.478000													24	57					0	0	0.007291	0	0
LRP1B	53353	broad.mit.edu	37	2	141665515	141665515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:141665515G>T	ENST00000389484.3	-	22	4422	c.3451C>A	c.(3451-3453)Ctg>Atg	p.L1151M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1151	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1151M(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGGCTGCAGGCAGACTGAG	0.453000										TSP Lung(27;0.18)			25	66					1.66031e-10	2.23895e-10	0.003954	1	0
LRRTM3	347731	broad.mit.edu	37	10	68857483	68857483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:68857483G>T	ENST00000361320.4	+	3	2253	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	559						integral to membrane		p.E559*(4)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACACACCTAGAGACTGAGCT	0.483000													13	33					2.27111e-07	2.80688e-07	0.001368	1	0
VCAN	1462	broad.mit.edu	37	5	82785999	82785999	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:82785999T>A	ENST00000265077.3	+	3	718	c.153T>A	c.(151-153)acT>acA	p.T51T	VCAN_ENST00000502527.2_Silent_p.T51T|VCAN_ENST00000512590.2_Silent_p.T3T|VCAN_ENST00000342785.4_Silent_p.T51T|VCAN_ENST00000343200.5_Silent_p.T51T|VCAN_ENST00000513984.1_Silent_p.T51T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	51	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.T51T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGATGCCTACTTTGCCACCCA	0.438000													9	191					0	0	0.006214	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558219	140558219	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140558219G>T	ENST00000239444.2	+	1	849	c.604G>T	c.(604-606)Gac>Tac	p.D202Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D202Y(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGCGCTGGACCGAGAGGA	0.532000													51	245					1.82294e-38	3.34112e-38	0.003610	1	0
TLN1	7094	broad.mit.edu	37	9	35718871	35718871	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:35718871C>A	ENST00000314888.9	-	17	2286	c.1933G>T	c.(1933-1935)Ggc>Tgc	p.G645C	TLN1_ENST00000540444.1_Missense_Mutation_p.G645C	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	645					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.G645C(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGCCTGGCCCACGTTCCCA	0.572000													10	25					1.58986e-06	1.92082e-06	0.008291	1	0
OR6A2	8590	broad.mit.edu	37	11	6816036	6816036	+	Missense_Mutation	SNP	C	C	A	rs146813493	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:6816036C>A	ENST00000332601.3	-	1	1092	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V302F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTCTCTTGACCTCTTGATTG	0.473000													27	93					8.24728e-16	1.26815e-15	0.004656	1	0
FRMD7	90167	broad.mit.edu	37	X	131228118	131228118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:131228118G>T	ENST00000298542.4	-	5	509	c.334C>A	c.(334-336)Cca>Aca	p.P112T	FRMD7_ENST00000464296.1_Missense_Mutation_p.P97T|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	112	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.P112T(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCATGGAAGCCTTCCT	0.403000													74	113					1.43161e-34	2.58388e-34	0.003610	1	0
ZFP41	286128	broad.mit.edu	37	8	144332252	144332252	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144332252C>T	ENST00000330701.4	+	2	608	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ZFP41_ENST00000522452.1_Missense_Mutation_p.P80L|ZFP41_ENST00000520584.1_Missense_Mutation_p.P80L	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	80					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P80L(2)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GTGTTCATTCCTTTTCAGAGG	0.512000													48	113					0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111130348	111130348	+	Splice_Site	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:111130348A>G	ENST00000360467.5	+	30	2731		c.e30-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.?(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGATTCCTGCAGGAAGCCAAG	0.582000													13	64					0	0	0.001855	0	0
C14orf93	60686	broad.mit.edu	37	14	23468206	23468206	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:23468206G>A	ENST00000299088.6	-	2	456	c.27C>T	c.(25-27)ttC>ttT	p.F9F	C14orf93_ENST00000397382.4_Silent_p.F9F|C14orf93_ENST00000397377.1_Intron|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.F9F|C14orf93_ENST00000341470.4_Silent_p.F9F|C14orf93_ENST00000397379.3_Silent_p.F9F	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	9						extracellular region		p.F9F(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGGGAGGGGAGAAGAGAATGG	0.587000													29	109					0	0	0.002445	0	0
TENM3	55714	broad.mit.edu	37	4	183664485	183664485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:183664485G>T	ENST00000511685.1	+	19	3665	c.3542G>T	c.(3541-3543)gGg>gTg	p.G1181V	TENM3_ENST00000406950.2_Missense_Mutation_p.G1181V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.G1181V(2)									CTAGCTTGTGGGATCGATGGC	0.507000													13	35					1.5842e-08	2.03437e-08	0.001855	1	0
SUSD1	64420	broad.mit.edu	37	9	114820914	114820914	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:114820914C>T	ENST00000374270.3	-	14	2075	c.1903G>A	c.(1903-1905)Gat>Aat	p.D635N	SUSD1_ENST00000374263.3_Missense_Mutation_p.D635N|SUSD1_ENST00000374264.2_Missense_Mutation_p.D635N	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	635						integral to membrane	calcium ion binding	p.D635N(2)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTCAGAATCACAAGAAAAT	0.488000													19	121					0	0	0.007413	0	0
FOXI1	2299	broad.mit.edu	37	5	169533120	169533120	+	Silent	SNP	C	C	G	rs146116253		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:169533120C>G	ENST00000449804.2	+	1	204	c.159C>G	c.(157-159)ggC>ggG	p.G53G	FOXI1_ENST00000306268.6_Silent_p.G53G	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	53	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.G53G(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGGGGCGGCGAGTATGGGG	0.692000									Pendred syndrome				8	29					0	0	0.006214	0	0
CA10	56934	broad.mit.edu	37	17	49710885	49710885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:49710885G>T	ENST00000451037.2	-	8	1856	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	CA10_ENST00000285273.4_Missense_Mutation_p.Q306K|CA10_ENST00000442502.2_Missense_Mutation_p.Q306K|CA10_ENST00000340813.6_Missense_Mutation_p.Q312K|CA10_ENST00000570565.1_Missense_Mutation_p.Q231K	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	306					brain development			p.Q306K(2)		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)			TCCTTCCCCTGTAAACTGAAG	0.512000													28	76					1.08312e-15	1.6526e-15	0.009535	1	0
MSMO1	6307	broad.mit.edu	37	4	166258949	166258949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:166258949A>T	ENST00000261507.6	+	3	437	c.264A>T	c.(262-264)ccA>ccT	p.P88P	MSMO1_ENST00000504317.1_Silent_p.P88P|MSMO1_ENST00000393766.2_5'UTR	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	88					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.P88P(2)								NADH(DB00157)	AGGATAAGCCAGAGACATGGG	0.343000													6	47					0	0	0.001984	0	0
FAT1	2195	broad.mit.edu	37	4	187538952	187538952	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:187538952C>A	ENST00000441802.2	-	10	8997	c.8788G>T	c.(8788-8790)Gat>Tat	p.D2930Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2930	Cadherin 27.				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	p.D2933Y(2)|p.D2930Y(2)		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						TGGGGGTCATCCTCACTCACA	0.463000										HNSCC(5;0.00058)			35	106					6.4771e-29	1.1311e-28	0.002522	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734888	176734888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176734888G>T	ENST00000367662.3	+	15	5402	c.4238G>T	c.(4237-4239)gGc>gTc	p.G1413V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1413	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G1413V(2)		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						ACCTCTATAGGCCCAGGTCTC	0.522000													83	267					1.20873e-29	2.11707e-29	0.003610	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918110	51918110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:51918110C>A	ENST00000356298.5	-	8	1699	c.1583G>T	c.(1582-1584)gGg>gTg	p.G528V	SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G528V|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G470V|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000353836.5_Intron	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	528					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.G528V(2)|p.G470V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACTCTGGGCCCCATGGACGTT	0.662000													47	174					1.86633e-21	3.06058e-21	0.003610	1	0
UBE2O	63893	broad.mit.edu	37	17	74395027	74395027	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:74395027C>T	ENST00000319380.7	-	10	1738	c.1674G>A	c.(1672-1674)atG>atA	p.M558I	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	558							ATP binding|ubiquitin-protein ligase activity	p.M558I(4)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CATCCTGCCACATCACGTCGG	0.622000													11	57					0	0	0.002445	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502030	140502030	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140502030A>G	ENST00000194152.1	+	1	450	c.450A>G	c.(448-450)ctA>ctG	p.L150L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		150	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.L150L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGTACTCTATTTCCGTTGC	0.403000													6	145					0	0	0.001168	0	0
KCNA1	3736	broad.mit.edu	37	12	5021590	5021590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:5021590C>A	ENST00000382545.3	+	2	2153	c.1046C>A	c.(1045-1047)gCg>gAg	p.A349E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	349					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.A349E(2)|p.A349V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTGCCGAGGCGGAAGAAGCT	0.532000													80	238					6.00396e-56	1.13921e-55	0.003610	1	0
SLC14A2	8170	broad.mit.edu	37	18	43217060	43217060	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:43217060C>T	ENST00000255226.6	+	6	1572	c.756C>T	c.(754-756)ggC>ggT	p.G252G	SLC14A2_ENST00000586448.1_Silent_p.G252G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	252						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G252G(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCACAGGCCACTACAACC	0.512000													81	111					0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131116	55131116	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:55131116C>G	ENST00000257290.5	+	5	990	c.659C>G	c.(658-660)gCt>gGt	p.A220G	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	220	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A220G(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAATGGAAGCTCTTAAAACC	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			88	122					0	0	0.003610	0	0
HMP19	51617	broad.mit.edu	37	5	173534364	173534364	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:173534364G>T	ENST00000303177.3	+	5	634	c.372G>T	c.(370-372)caG>caT	p.Q124H	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1												p.Q124H(2)									ACTCCTCCCAGGACCCCAATT	0.592000													29	104					5.45727e-16	8.43526e-16	0.008361	1	0
PLA2G5	5322	broad.mit.edu	37	1	20416375	20416375	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:20416375C>A	ENST00000375108.3	+	4	547	c.279C>A	c.(277-279)ggC>ggA	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582000													5	40					0.000602214	0.000660205	0.000602	1	0
GID8	54994	broad.mit.edu	37	20	61576189	61576189	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:61576189C>T	ENST00000266069.3	+	5	759	c.612C>T	c.(610-612)aaC>aaT	p.N204N		NM_017896.2	NP_060366.1			GID complex subunit 8									p.N204N(2)									GGGCTCAGAACGAGCTGGACC	0.473000													34	81					0	0	0.002445	0	0
NOS1	4842	broad.mit.edu	37	12	117715825	117715825	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:117715825C>T	ENST00000317775.6	-	9	2288	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.D535N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	535					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D535N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTCAGGGTCATTGCCGTTG	0.602000													5	94					0	0	0.001984	0	0
SMCHD1	23347	broad.mit.edu	37	18	2698038	2698038	+	Splice_Site	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:2698038A>T	ENST00000320876.6	+	10	1679	c.1342_splice	c.e10+1	p.S447_splice	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site_p.S447_splice	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	447					chromosome organization		ATP binding	p.S447S(4)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCTTTCCATCAAGTATGTTAA	0.333000													3	8					0	0	0.004672	0	0
ITGBL1	9358	broad.mit.edu	37	13	102367988	102367988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:102367988G>C	ENST00000376180.3	+	11	1688	c.1469G>C	c.(1468-1470)gGc>gCc	p.G490A	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G349A|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G397A	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	490	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.G490A(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTGGCTTGGCTCAGAATAT	0.383000													49	141					0	0	0.003610	0	0
PSD2	84249	broad.mit.edu	37	5	139193210	139193210	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:139193210C>T	ENST00000274710.3	+	3	893	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	230					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R230C(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCAGCCGCTCTGAGAA	0.632000													16	11					0	0	0.001882	0	0
SLIT3	6586	broad.mit.edu	37	5	168093656	168093656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:168093656G>T	ENST00000519560.1	-	36	4794	c.4375C>A	c.(4375-4377)Cgc>Agc	p.R1459S	SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466S|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1459	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R1459S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGCGGCGGATCACCTCT	0.607000													14	101					6.31663e-08	7.95626e-08	0.003163	1	0
CYP4F11	57834	broad.mit.edu	37	19	16025585	16025585	+	Silent	SNP	G	G	T	rs140718122		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:16025585G>T	ENST00000326742.7	-	9	1237	c.1236C>A	c.(1234-1236)cgC>cgA	p.R412R	CYP4F11_ENST00000248041.7_Silent_p.R412R|CYP4F11_ENST00000402119.3_Silent_p.R412R			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	412					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R412R(2)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGGGGATGACGCGGCCGTCTG	0.632000													33	94					2.42023e-17	3.81058e-17	0.003271	1	0
ACTN2	88	broad.mit.edu	37	1	236902645	236902645	+	Missense_Mutation	SNP	G	G	T	rs112882610		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:236902645G>T	ENST00000366578.4	+	10	1086	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R307L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	307					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R307L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTGGAGAACCGGACTCCCGAG	0.567000													98	94					2.608e-42	4.8248e-42	0.003610	1	0
KIF17	57576	broad.mit.edu	37	1	21044096	21044096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:21044096G>C	ENST00000247986.2	-	1	414	c.104C>G	c.(103-105)gCc>gGc	p.A35G	KIF17_ENST00000400463.3_Missense_Mutation_p.A35G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	35	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A35G(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCAGCACTGGGCGCGCGCGCA	0.692000													18	39					0	0	0.007413	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													4	31					0	0	0.009096	0	0
VCAM1	7412	broad.mit.edu	37	1	101190255	101190255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:101190255G>T	ENST00000294728.2	+	4	838	c.737G>T	c.(736-738)tGt>tTt	p.C246F	VCAM1_ENST00000370115.1_Missense_Mutation_p.C246F|VCAM1_ENST00000347652.2_Missense_Mutation_p.C246F|VCAM1_ENST00000370119.4_Missense_Mutation_p.C184F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	246	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.C246F(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCATGACCTGTTCCAGCGAG	0.413000													11	35					3.86212e-05	4.38844e-05	0.008291	1	0
SYT1	6857	broad.mit.edu	37	12	79679716	79679716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:79679716G>T	ENST00000261205.4	+	5	973	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	SYT1_ENST00000457153.2_Missense_Mutation_p.D106Y|SYT1_ENST00000393240.3_Missense_Mutation_p.D106Y|SYT1_ENST00000552744.1_Missense_Mutation_p.D106Y	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	106					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.D106Y(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAACATGAAAGATGTAAAAGA	0.303000													15	24					8.60227e-14	1.26366e-13	0.004007	1	0
HGFAC	3083	broad.mit.edu	37	4	3444869	3444869	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:3444869A>G	ENST00000382774.3	+	3	506	c.391A>G	c.(391-393)Aag>Gag	p.K131E	HGFAC_ENST00000511533.1_Missense_Mutation_p.K131E	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	131	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.K131E(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCACACAGGAAGTGGTGGGT	0.697000													6	20					0	0	0.001168	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374339	95374339	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:95374339C>A	ENST00000494840.1	-	0	1522					NR_077228.1																						ATGGGGTAGCCGGTAACATGG	0.433000													32	104					1.26612e-14	1.89757e-14	0.003271	1	0
SLFN11	91607	broad.mit.edu	37	17	33687261	33687261	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:33687261C>A	ENST00000394566.1	-	5	1471		c.e5+1		SLFN11_ENST00000308377.4_Splice_Site	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11							nucleus	ATP binding	p.?(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCATAATTACCTGAAAATAA	0.393000													10	52					4.68919e-08	5.94433e-08	0.008291	1	0
TEX261	113419	broad.mit.edu	37	2	71216145	71216145	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:71216145G>A	ENST00000606025.1	-	5	953	c.375C>T	c.(373-375)gtC>gtT	p.V125V	TEX261_ENST00000272438.4_Silent_p.V125V|TEX261_ENST00000466731.1_5'UTR														p.V125V(1)									AATAGGCCAGGACCTGGCAAC	0.577000													5	32					0	0	0.000602	0	0
LONP2	83752	broad.mit.edu	37	16	48303939	48303939	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:48303939T>A	ENST00000285737.4	+	7	1088	c.995T>A	c.(994-996)aTt>aAt	p.I332N	LONP2_ENST00000535754.1_Missense_Mutation_p.I288N	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	332					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.I332N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGCCTGGACATTAGGGCAGCC	0.378000													20	97					0	0	0.004656	0	0
INSC	387755	broad.mit.edu	37	11	15260554	15260554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:15260554G>T	ENST00000379554.3	+	11	1514	c.1468G>T	c.(1468-1470)Gct>Tct	p.A490S	INSC_ENST00000530161.1_Missense_Mutation_p.A443S|INSC_ENST00000525218.1_Missense_Mutation_p.A401S|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.A443S|INSC_ENST00000424273.1_Missense_Mutation_p.A401S|INSC_ENST00000379556.3_Missense_Mutation_p.A443S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	490					cell differentiation|nervous system development	cytoplasm	binding	p.A490S(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCAGCAGAAAGCTGCAGTGAC	0.602000													15	45					8.28177e-16	1.27016e-15	0.007413	1	0
FAM83H	286077	broad.mit.edu	37	8	144808840	144808840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144808840G>T	ENST00000388913.3	-	5	2916	c.2791C>A	c.(2791-2793)Ccg>Acg	p.P931T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	931					biomineral tissue development			p.P931T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCGCTCCGGCACGGGGGGC	0.736000													7	6					8.12818e-05	9.13071e-05	0.001984	1	0
UBE4B	10277	broad.mit.edu	37	1	10238755	10238755	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:10238755A>T	ENST00000377157.3	+	25	3905	c.2844A>T	c.(2842-2844)gcA>gcT	p.A948A	UBE4B_ENST00000343090.6_Silent_p.A1193A|UBE4B_ENST00000253251.8_Silent_p.A1064A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1193					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.A1064A(2)|p.A1193A(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCGGAAGGCAGGGATCAAAT	0.453000													17	53					0	0	0.004007	0	0
RGS22	26166	broad.mit.edu	37	8	101075826	101075826	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:101075826C>G	ENST00000360863.6	-	8	1364	c.1170G>C	c.(1168-1170)gaG>gaC	p.E390D	RGS22_ENST00000523437.1_Missense_Mutation_p.E378D|RGS22_ENST00000523287.1_Missense_Mutation_p.E209D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	390					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E390D(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCCAGCGCTCTCATTCTTTG	0.358000													6	81					0	0	0.001168	0	0
ADAD1	132612	broad.mit.edu	37	4	123336740	123336740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:123336740G>T	ENST00000296513.2	+	11	1641	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L	ADAD1_ENST00000388725.2_Missense_Mutation_p.V468L|ADAD1_ENST00000388724.2_Missense_Mutation_p.V475L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	486	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.V486L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGGAGATTGTGGATGGCCT	0.333000													27	73					8.24728e-16	1.26815e-15	0.004656	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008600	142008600	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142008600C>A	ENST00000390387.3	+	0	120																											AGCTGTTTCCCAGACTCCAAA	0.453000													38	23					1.96642e-18	3.17199e-18	0.006999	1	0
AHSG	197	broad.mit.edu	37	3	186335058	186335058	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:186335058G>C	ENST00000411641.2	+	4	711	c.492G>C	c.(490-492)gcG>gcC	p.A164A	AHSG_ENST00000273784.5_Silent_p.A165A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	164	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.A164A(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCACGCCGCGAAAGCTGCCC	0.592000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	119					0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32023635	32023635	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:32023635A>G	ENST00000375244.3	-	24	8661	c.8460T>C	c.(8458-8460)ggT>ggC	p.G2820G	TNXB_ENST00000375247.2_Silent_p.G2820G			P22105	TENX_HUMAN	tenascin XB	2878	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2820G(1)|p.G2907G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCTGTCACACCCACGGTGG	0.582000													4	91					0	0	0.001168	0	0
CLTC	1213	broad.mit.edu	37	17	57743971	57743971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:57743971G>T	ENST00000269122.3	+	12	2187	c.1913G>T	c.(1912-1914)cGt>cTt	p.R638L	CLTC_ENST00000393043.1_Missense_Mutation_p.R638L|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	638	Heavy chain arm.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.R638L(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATATAAAACGTGCAGTGGTT	0.388000			T	"""ALK, TFE3"""	"""ALCL, renal """								3	47					6.4e-05	7.24436e-05	0.004672	1	0
IVL	3713	broad.mit.edu	37	1	152882785	152882785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152882785G>T	ENST00000368764.3	+	2	576	c.512G>T	c.(511-513)gGa>gTa	p.G171V	IVL_ENST00000392667.2_Missense_Mutation_p.G25V			P07476	INVO_HUMAN	involucrin	171	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.G171V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagcaggagggacagctgaag	0.622000													20	19					8.00594e-06	9.4038e-06	0.007413	1	0
TENM3	55714	broad.mit.edu	37	4	183651436	183651436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:183651436C>A	ENST00000511685.1	+	15	2792	c.2669C>A	c.(2668-2670)cCa>cAa	p.P890Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P890Q|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.P890Q(2)									TTCCATTACCCAGAATATGGA	0.418000													10	62					3.86212e-05	4.38844e-05	0.008291	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709330	176709330	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176709330G>T	ENST00000367662.3	+	14	5313	c.4149G>T	c.(4147-4149)caG>caT	p.Q1383H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1383					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.Q1383H(2)		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						ATCAGGGACAGAGGTACAAAC	0.458000													17	46					1.02788e-11	1.42842e-11	0.004990	1	0
ABCC5	10057	broad.mit.edu	37	3	183667663	183667663	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:183667663C>A	ENST00000334444.6	-	22	3345	c.3105G>T	c.(3103-3105)ctG>ctT	p.L1035L	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1035	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L1035L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTCCCGAATCAGGACCCTGG	0.557000													24	72					2.24059e-21	3.66418e-21	0.006320	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317504	30317504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:30317504G>A	ENST00000375377.1	-	3	1674	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	525								p.Q525*(2)		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						TCAGGCCACTGTCCCCTTGCC	0.632000													81	186					0	0	0.003610	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													4	64					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100685898	100685898	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:100685898C>G	ENST00000306151.4	+	3	11265	c.11201C>G	c.(11200-11202)tCt>tGt	p.S3734C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3734	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)					GCCATTTCATCTTCTGCAACT	0.507000													4	321					0	0	0.009096	0	0
AOX1	316	broad.mit.edu	37	2	201533401	201533401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:201533401C>A	ENST00000374700.2	+	33	3914	c.3673C>A	c.(3673-3675)Cag>Aag	p.Q1225K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1225					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.Q1225K(2)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTATTCTCCCCAGGGCATTCT	0.433000													67	127					5.05157e-50	9.4637e-50	0.003610	1	0
KCNH2	3757	broad.mit.edu	37	7	150645550	150645550	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:150645550G>C	ENST00000392968.2	-	9	3506	c.2386C>G	c.(2386-2388)Cgc>Ggc	p.R796G	KCNH2_ENST00000330883.4_Missense_Mutation_p.R552G|KCNH2_ENST00000262186.5_Missense_Mutation_p.R892G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	892					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.R892G(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGCGCCTGCGGAAGGACAAC	0.647000													19	47					0	0	0.007413	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078204	90078204	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:90078204G>T	ENST00000390270.2	+	0	338																											TGGCATCCCAGACAGGTTCAG	0.547000													24	75					3.1745e-13	4.59487e-13	0.008361	1	0
MED23	9439	broad.mit.edu	37	6	131937143	131937143	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:131937143C>A	ENST00000403834.3	-	10	954		c.e10-1		MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000368053.4_Splice_Site|MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000368068.3_Splice_Site|MED23_ENST00000540546.1_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000539158.1_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CAAACAGATCCTTTAAAGAAA	0.338000													10	13					7.48243e-07	9.17101e-07	0.006214	1	0
HMMR	3161	broad.mit.edu	37	5	162909666	162909666	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:162909666C>T	ENST00000416990.2	+	13	1556	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	HMMR_ENST00000432118.2_Silent_p.A381A|HMMR_ENST00000358715.3_Silent_p.A467A|HMMR_ENST00000393915.4_Silent_p.A468A|HMMR_ENST00000353866.3_Silent_p.A452A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	467						cell surface|cytoplasm	hyaluronic acid binding	p.A467A(2)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CGTTAACAGCCAGTGAGATAG	0.348000													9	56					0	0	0.000978	0	0
FAT4	79633	broad.mit.edu	37	4	126337745	126337745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:126337745G>C	ENST00000394329.3	+	6	6999	c.6986G>C	c.(6985-6987)cGc>cCc	p.R2329P	FAT4_ENST00000335110.5_Missense_Mutation_p.R627P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2329	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2329P(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAAGAGCGCTTTGTCTTA	0.428000													46	161					0	0	0.002522	0	0
NEFH	4744	broad.mit.edu	37	22	29886353	29886353	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr22:29886353G>A	ENST00000310624.6	+	4	2757	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	914	Tail.				cell death|nervous system development	neurofilament		p.K908K(2)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGAGGCTCCTG	0.498000													6	17					0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563917	176563917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176563917G>T	ENST00000367662.3	+	3	2341	c.1177G>T	c.(1177-1179)Ggt>Tgt	p.G393C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G393C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	393					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G393C(2)		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						AGACCAGTCTGGTCCCCTGAA	0.592000													7	243					1.6384e-10	2.21446e-10	0.001984	1	0
WNT1	7471	broad.mit.edu	37	12	49373354	49373354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:49373354C>A	ENST00000293549.3	+	2	244	c.208C>A	c.(208-210)Cgt>Agt	p.R70S		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	70					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.R70S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAAACAGCGGCGTCTGATACG	0.592000													35	118					1.62957e-23	2.74064e-23	0.008740	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659372	176659372	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176659372A>T	ENST00000367662.3	+	5	3401	c.2237A>T	c.(2236-2238)aAa>aTa	p.K746I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K746I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	746	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.K746I(4)		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						CATGTCTTTAAAGGAGTCAGT	0.547000													48	267					0	0	0.003610	0	0
DEFB112	245915	broad.mit.edu	37	6	50016257	50016257	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:50016257G>T	ENST00000322246.4	-	1	107	c.108C>A	c.(106-108)atC>atA	p.I36I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	36					defense response to bacterium	extracellular region		p.I36I(2)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACCTGTGCTGATTTTCTCTG	0.318000													7	51					0.00307968	0.00332089	0.003080	1	0
SHANK1	50944	broad.mit.edu	37	19	51169662	51169662	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:51169662G>T	ENST00000293441.1	-	22	5573	c.5555C>A	c.(5554-5556)cCc>cAc	p.P1852H	SHANK1_ENST00000391814.1_Missense_Mutation_p.P1860H|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1239H|SHANK1_ENST00000359082.3_Missense_Mutation_p.P1843H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1852	Poly-Pro.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P1852H(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAGGGCCCGGGCAGAGGTGG	0.677000													12	40					3.07112e-06	3.62895e-06	0.000978	1	0
ZNF114	163071	broad.mit.edu	37	19	48790040	48790040	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:48790040C>T	ENST00000595607.1	+	6	1653	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	ZNF114_ENST00000315849.1_Missense_Mutation_p.P387S|ZNF114_ENST00000597695.1_Missense_Mutation_p.P353S|ZNF114_ENST00000600687.1_Missense_Mutation_p.P387S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P387S(2)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGGAGAGAAACCCTATAAATG	0.408000													49	166					0	0	0.003610	0	0
IL4R	3566	broad.mit.edu	37	16	27374034	27374034	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:27374034A>T	ENST00000395762.2	+	11	1620	c.1361A>T	c.(1360-1362)aAg>aTg	p.K454M	IL4R_ENST00000543915.2_Missense_Mutation_p.K454M|IL4R_ENST00000170630.2_Missense_Mutation_p.K454M|IL4R_ENST00000380922.3_Missense_Mutation_p.K439M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	454	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.K454M(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGGGCCCAAGGAGGCACCT	0.617000													50	92					0	0	0.003610	0	0
MAF1	84232	broad.mit.edu	37	8	145160669	145160669	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:145160669G>T	ENST00000534585.1	+	2	474	c.83_splice	c.e2+1	p.R28_splice	MAF1_ENST00000322428.5_Splice_Site_p.R28_splice|MAF1_ENST00000532522.1_Splice_Site_p.R28_splice			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	28					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.R28M(2)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	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;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCATTGGCAGGTGAGGCAGG	0.562000													21	74					3.01185e-09	3.92734e-09	0.003954	1	0
OR52B4	143496	broad.mit.edu	37	11	4389468	4389468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:4389468G>A	ENST00000408920.2	-	1	148	c.58C>T	c.(58-60)Cct>Tct	p.P20S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P20S(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTAGGCCAGGGATGCCCAGC	0.512000													13	26					0	0	0.004007	0	0
BMP10	27302	broad.mit.edu	37	2	69098254	69098254	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:69098254C>A	ENST00000295379.1	-	1	395	c.237G>T	c.(235-237)gtG>gtT	p.V79V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	79					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.V79V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGGTGGGTCCACCTTGGCTG	0.468000													39	124					3.62531e-18	5.80049e-18	0.004289	1	0
DTX4	23220	broad.mit.edu	37	11	58949495	58949495	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:58949495A>T	ENST00000227451.3	+	2	599	c.495A>T	c.(493-495)acA>acT	p.T165T	DTX4_ENST00000532982.1_Silent_p.T59T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	165					Notch signaling pathway	cytoplasm	zinc ion binding	p.T165T(2)|p.T59T(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCATGGTCACAGGGACCTTGC	0.637000													21	68					0	0	0.002299	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188891	11188891	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:11188891C>T	ENST00000382435.4	+	1	495	c.276C>T	c.(274-276)gaC>gaT	p.D92D		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	92	DUF6 1.					integral to membrane		p.D92D(2)									TGCGTGGCGACCCCCTTCTGG	0.592000													84	363					0	0	0.003610	0	0
SRRM2	23524	broad.mit.edu	37	16	2818263	2818263	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:2818263G>T	ENST00000301740.8	+	11	8282		c.e11+1		SRRM2_ENST00000574593.1_Splice_Site	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2							Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.?(2)		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						CACTGAAGAGGTGAGGGAGCT	0.557000													31	59					6.00712e-18	9.55972e-18	0.002445	1	0
DDX58	23586	broad.mit.edu	37	9	32487951	32487951	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:32487951G>A	ENST00000379882.1	-	7	1226	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	DDX58_ENST00000379883.2_Silent_p.L402L|DDX58_ENST00000542096.1_Silent_p.L331L|DDX58_ENST00000379868.1_Silent_p.L199L|DDX58_ENST00000545044.1_Silent_p.L199L			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	402	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.L402L(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ACCTGGGGCAGTGGGCCTGAA	0.403000													20	62					0	0	0.010504	0	0
COL14A1	7373	broad.mit.edu	37	8	121170441	121170441	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:121170441G>C	ENST00000297848.3	+	3	431	c.161G>C	c.(160-162)aGa>aCa	p.R54T	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R54T|COL14A1_ENST00000537875.1_Missense_Mutation_p.R54T|COL14A1_ENST00000309791.4_Missense_Mutation_p.R54T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	54	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R54T(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGCTCCAAGAGGGAAATTT	0.363000													14	47					0	0	0.002450	0	0
ANK2	287	broad.mit.edu	37	4	114274319	114274319	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:114274319C>G	ENST00000357077.4	+	38	4598	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I1482M|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1482					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.I1515M(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGATTTGATCAAAATGACCG	0.458000													22	89					0	0	0.002299	0	0
RSRC2	65117	broad.mit.edu	37	12	122990163	122990163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:122990163G>A	ENST00000331738.7	-	10	1361	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q358*	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	406								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTTCATACTGAGCATCTAAA	0.393000													43	99					0	0	0.002852	0	0
CACNA1E	777	broad.mit.edu	37	1	181708286	181708286	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:181708286A>T	ENST00000526775.1	+	24	3724	c.3559A>T	c.(3559-3561)Ata>Tta	p.I1187L	CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1187L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1138L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1206L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I813L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1157L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1206L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1206					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1206L(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGCAGATGATAGACCAAGG	0.532000													51	233					0	0	0.003610	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982786	42982786	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:42982786C>A	ENST00000418176.1	+	2	2139	c.105C>A	c.(103-105)gcC>gcA	p.A35A	KRBOX1_ENST00000383748.4_Silent_p.A35A|KRBOX1_ENST00000418093.2_3'UTR|KRBOX1_ENST00000426937.1_Silent_p.A35A			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	35	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.A35A(4)		lung(2)	2						TGGTGCCTGCCGAGAGGGCCT	0.537000													3	10					0.004672	0.00501055	0.004672	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202436667	202436667	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:202436667A>G	ENST00000439140.1	-	8	874	c.830T>C	c.(829-831)gTg>gCg	p.V277A	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.V277A|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.V277A|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.V277A	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	277								p.V277A(6)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CACTTACGTCACGGGATCTGT	0.348000													20	37					0	0	0.002299	0	0
CACNA2D1	781	broad.mit.edu	37	7	81594951	81594951	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:81594951C>A	ENST00000356860.3	-	32	2871	c.2533G>T	c.(2533-2535)Ggg>Tgg	p.G845W	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.G57W|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G857W	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	857						voltage-gated calcium channel complex	metal ion binding	p.G845W(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGAAGAAACCCACCATCATCC	0.373000													5	29					1.23904e-05	1.43544e-05	0.000602	1	0
OR2W1	26692	broad.mit.edu	37	6	29012092	29012092	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:29012092C>A	ENST00000377175.1	-	1	925	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287P(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGTAAATGAGCGGGTTGAGAC	0.423000													7	10					8.12818e-05	9.13071e-05	0.001984	1	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638159	19638159	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:19638159G>T	ENST00000555938.1	+	3	255	c.243G>T	c.(241-243)cgG>cgT	p.R81R	NDUFA13_ENST00000503283.1_Silent_p.R81R|NDUFA13_ENST00000428459.2_Silent_p.R81R|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Silent_p.R81R|NDUFA13_ENST00000252576.5_Silent_p.R164R														p.R164L(2)									AAACCGACCGGAGGTAGCACC	0.632000													9	59					5.4927e-09	7.11527e-09	0.004482	1	0
PRLR	5618	broad.mit.edu	37	5	35084585	35084585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:35084585G>C	ENST00000382002.5	-	5	786	c.360C>G	c.(358-360)gaC>gaG	p.D120E	PRLR_ENST00000397391.3_Missense_Mutation_p.D49E|PRLR_ENST00000348262.3_Missense_Mutation_p.D120E|PRLR_ENST00000231423.3_Missense_Mutation_p.D120E|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000310101.5_Missense_Mutation_p.D120E|PRLR_ENST00000542609.1_Missense_Mutation_p.D120E|PRLR_ENST00000513753.1_Missense_Mutation_p.D120E|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000509934.1_5'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	120	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.D120E(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTAAGTCACGTCCACATAAA	0.438000													70	272					0	0	0.003610	0	0
GABRA5	2558	broad.mit.edu	37	15	27185175	27185175	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:27185175G>T	ENST00000335625.5	+	9	1716	c.828G>T	c.(826-828)caG>caT	p.Q276H	GABRA5_ENST00000355395.5_Missense_Mutation_p.Q276H|GABRA5_ENST00000400081.3_Missense_Mutation_p.Q276H	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	276					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.Q276H(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTATCACAGGTGTCCTTTT	0.493000													10	44					4.68919e-08	5.94433e-08	0.008291	1	0
ZNF28	7576	broad.mit.edu	37	19	53311270	53311270	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:53311270C>A	ENST00000457749.2	-	3	251	c.132G>T	c.(130-132)ctG>ctT	p.L44L	ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_Silent_p.L8L|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000594602.1_Silent_p.L44L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L44L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGGGAGACCAGGTTCCTAT	0.493000													47	156					1.00221e-16	1.56134e-16	0.003610	1	0
MUC16	94025	broad.mit.edu	37	19	9071876	9071876	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:9071876A>G	ENST00000397910.4	-	3	15773	c.15570T>C	c.(15568-15570)ccT>ccC	p.P5190P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5190P(4)|p.P823P(2)		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						CTCTCAGTCTAGGAGTCAAGA	0.483000													129	328					0	0	0.003610	0	0
OR6X1	390260	broad.mit.edu	37	11	123624331	123624331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:123624331A>G	ENST00000327930.2	-	1	922	c.896T>C	c.(895-897)tTa>tCa	p.L299S		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L299S(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCCTTTCTTAAGGCTCCCTT	0.378000													58	117					0	0	0.003610	0	0
OR2B11	127623	broad.mit.edu	37	1	247614966	247614966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:247614966C>A	ENST00000318749.6	-	1	342	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGTGGAAGACTGCATATTGC	0.592000													70	74					1.48072e-28	2.57063e-28	0.003610	1	0
ZNF516	9658	broad.mit.edu	37	18	74154334	74154334	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:74154334G>A	ENST00000443185.2	-	3	994	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A226V(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCCCCTGCGCGGTGATGTG	0.697000													11	31					0	0	0.001368	0	0
RASA3	22821	broad.mit.edu	37	13	114762162	114762162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:114762162G>C	ENST00000334062.7	-	21	2107	c.1986C>G	c.(1984-1986)tgC>tgG	p.C662W	RASA3_ENST00000389544.4_Missense_Mutation_p.C630W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	662	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.C662W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGGCCTCCACGCAGTTGTTGG	0.607000													25	93					0	0	0.003954	0	0
KCNA4	3739	broad.mit.edu	37	11	30033978	30033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30033978C>T	ENST00000328224.6	-	2	1481	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R83Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCTCCTCCTCCGACTACCCCG	0.637000													28	80					0	0	0.005443	0	0
FSCB	84075	broad.mit.edu	37	14	44976031	44976031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:44976031C>A	ENST00000340446.4	-	1	451	c.160G>T	c.(160-162)Gag>Tag	p.E54*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	54						cilium		p.E54*(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCTGAAGCTCAGAAGATACT	0.413000													47	173					9.58827e-17	1.49769e-16	0.003610	1	0
ATAD3C	219293	broad.mit.edu	37	1	1403796	1403796	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:1403796G>C	ENST00000378785.2	+	12	2117	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	374							ATP binding|nucleoside-triphosphatase activity	p.L374L(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACGGGGTCCTGACCGAGGCCA	0.672000													8	31					0	0	0.004482	0	0
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:12758931C>A	ENST00000381774.4	-	4	997	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Missense_Mutation_p.G111W	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	253							hydrolase activity|metal ion binding	p.G253W(2)|p.G253R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TAGGTACCCCCGGCATTCCTG	0.582000													40	38					6.2361e-21	1.01702e-20	0.007835	1	0
MPPED2	744	broad.mit.edu	37	11	30433103	30433103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30433103G>A	ENST00000358117.5	-	6	919	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	266					nervous system development		hydrolase activity|metal ion binding	p.T266M(3)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTGATGTACGTTGTGTAACC	0.463000													19	41					0	0	0.010504	0	0
KCNA4	3739	broad.mit.edu	37	11	30034116	30034116	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30034116C>A	ENST00000328224.6	-	2	1343	c.110G>T	c.(109-111)aGg>aTg	p.R37M		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	37						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R37M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGCAGCTGCCCTGGAGTGAGC	0.667000													14	45					1.40151e-16	2.17197e-16	0.010504	1	0
ZBTB47	92999	broad.mit.edu	37	3	42703101	42703101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:42703101C>T	ENST00000457842.3	+	3	1879	c.470C>T	c.(469-471)gCc>gTc	p.A157V	ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79V|ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533V	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A533V(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TACACCATGGCCCACGTGCGT	0.522000													13	45					0	0	0.002450	0	0
NTRK3	4916	broad.mit.edu	37	15	88472600	88472600	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:88472600C>A	ENST00000394480.1	-	17	2276	c.1955G>T	c.(1954-1956)gGg>gTg	p.G652V	NTRK3_ENST00000360948.2_Missense_Mutation_p.G652V|NTRK3_ENST00000542733.2_Missense_Mutation_p.G554V|NTRK3_ENST00000557856.1_Missense_Mutation_p.G644V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G644V|NTRK3_ENST00000355254.2_Missense_Mutation_p.G652V|NTRK3_ENST00000357724.2_Missense_Mutation_p.G644V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G652V(4)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGGAGAGCCCCAGCTCACC	0.612000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			15	38					0.00400662	0.00431259	0.004007	1	0
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:113657364C>T	ENST00000297405.5	-	20	3528	c.3284G>A	c.(3283-3285)tGg>tAg	p.W1095*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1095*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1055*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W991*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1095	CUB 6.					integral to membrane|plasma membrane		p.W1095*(2)|p.W1055*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAACAGTCCATGTACAATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	12					0	0	0.009096	0	0
JADE2	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:133909338A>G	ENST00000395003.1	+	10	1617	c.1438A>G	c.(1438-1440)Aga>Gga	p.R480G	PHF15_ENST00000402835.1_Intron|PHF15_ENST00000361895.2_Missense_Mutation_p.R480G|PHF15_ENST00000282605.4_Missense_Mutation_p.R480G	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.R480G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512000													53	57					0	0	0.003610	0	0
KRT75	9119	broad.mit.edu	37	12	52827967	52827967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:52827967G>T	ENST00000252245.5	-	1	342	c.122C>A	c.(121-123)gCa>gAa	p.A41E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	41	Gly-rich.|Head.					keratin filament	structural molecule activity	p.A41E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACTCCCTGCTGCAGAGCGGGC	0.667000													13	58					4.36969e-10	5.83941e-10	0.001855	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3447625	3447625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:3447625T>C	ENST00000324266.5	+	6	1688	c.1493T>C	c.(1492-1494)cTg>cCg	p.L498P	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L498P	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	498							binding	p.L498P(2)									CAGGAGTCGCTGGATAGACTG	0.592000													12	32					0	0	0.001368	0	0
ASPM	259266	broad.mit.edu	37	1	197074309	197074309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:197074309A>C	ENST00000367409.4	-	18	4328	c.4072T>G	c.(4072-4074)Tgg>Ggg	p.W1358G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1358	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.W1358G(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATCTTCTCCAATATCCCTGG	0.284000													5	16					0	0	0.000602	0	0
PLK4	10733	broad.mit.edu	37	4	128804445	128804445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:128804445G>T	ENST00000270861.5	+	3	429	c.155G>T	c.(154-156)gGa>gTa	p.G52V	PLK4_ENST00000507249.1_Missense_Mutation_p.G52V|PLK4_ENST00000515069.1_Missense_Mutation_p.G52V|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000514379.1_Missense_Mutation_p.G11V|PLK4_ENST00000513090.1_Intron	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	52	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G52V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TACAAAGCAGGAATGGTACAG	0.313000													13	41					3.32936e-07	4.09767e-07	0.006122	1	0
FLG	2312	broad.mit.edu	37	1	152276900	152276900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152276900G>T	ENST00000368799.1	-	3	10497	c.10462C>A	c.(10462-10464)Caa>Aaa	p.Q3488K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3488	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q3488K(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)			TTACGAGTTTGTCTGCTGGCA	0.557000									Ichthyosis				24	1201					3.41278e-10	4.59174e-10	0.004990	1	0
CACNG7	59284	broad.mit.edu	37	19	54445373	54445373	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:54445373C>T	ENST00000391767.1	+	6	866	c.654C>T	c.(652-654)cgC>cgT	p.R218R	CACNG7_ENST00000222212.2_Silent_p.R218R			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	218				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R218R(2)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTTCTACCGCCCGCGTCTCA	0.687000													29	45					0	0	0.006320	0	0
ZNF135	7694	broad.mit.edu	37	19	58579298	58579298	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:58579298C>A	ENST00000506786.1	+	5	1874	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	ZNF135_ENST00000439855.2_Silent_p.T482T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.T494T|ZNF135_ENST00000313434.5_Silent_p.T482T|ZNF135_ENST00000401053.4_Silent_p.T506T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	494					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T506T(2)|p.T482T(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACACCTCACCCAACACCAGC	0.567000													25	65					1.26454e-06	1.54352e-06	0.005443	1	0
CCT6B	10693	broad.mit.edu	37	17	33266313	33266313	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:33266313T>A	ENST00000314144.5	-	10	1217	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	CCT6B_ENST00000421975.3_Missense_Mutation_p.N331Y|CCT6B_ENST00000436961.3_Missense_Mutation_p.N323Y	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	368					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.N368Y(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAGCAAGGGTTAACACACTCC	0.343000													35	99					0	0	0.003755	0	0
SKAP1	8631	broad.mit.edu	37	17	46247980	46247980	+	Nonsense_Mutation	SNP	G	G	A	rs142272724		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:46247980G>A	ENST00000336915.6	-	10	937	c.868C>T	c.(868-870)Cga>Tga	p.R290*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.R290*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	290	Interaction with FYB.				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	p.R290*(2)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CCTCCTTTTCGTCGAGTGCCA	0.413000													53	198					0	0	0.003610	0	0
CDH7	1005	broad.mit.edu	37	18	63547735	63547735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:63547735G>T	ENST00000397968.2	+	12	2389	c.1963G>T	c.(1963-1965)Gac>Tac	p.D655Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D655Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D655Y(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGATACGATGACGAGGGCGG	0.493000													20	58					7.45023e-12	1.04022e-11	0.010504	1	0
FCRL5	83416	broad.mit.edu	37	1	157514076	157514076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:157514076G>T	ENST00000361835.3	-	5	977	c.820C>A	c.(820-822)Ccg>Acg	p.P274T	FCRL5_ENST00000368190.3_Missense_Mutation_p.P274T|FCRL5_ENST00000368189.3_Missense_Mutation_p.P274T|FCRL5_ENST00000368191.3_Missense_Mutation_p.P189T|FCRL5_ENST00000356953.4_Missense_Mutation_p.P274T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	274						integral to membrane|plasma membrane	receptor activity	p.P274T(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGATCTCGGGCTGTCAGAT	0.507000													168	111					1.52288e-82	2.90821e-82	0.003610	1	0
AGAP6	414189	broad.mit.edu	37	10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	259					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562000													87	233					7.79638e-53	1.46989e-52	0.003610	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47491246	47491246	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:47491246G>T	ENST00000404338.3	+	3	3827	c.3826_splice	c.e3-1	p.G1276_splice		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1276	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.G1276V(4)									TTCTCCTCAGGACTGAGCACG	0.552000													12	29					0.00010058	0.000112558	0.001368	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177108	89177108	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:89177108G>T	ENST00000561129.2	+	1	154	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TGIF2LX_ENST00000283891.5_Silent_p.P8P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P8P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGACGGCCCGGCTGAGACCC	0.527000													32	59					9.80977e-26	1.67843e-25	0.004289	1	0
EBF1	1879	broad.mit.edu	37	5	158135059	158135059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:158135059A>G	ENST00000313708.6	-	15	1954	c.1672T>C	c.(1672-1674)Ttc>Ctc	p.F558L	EBF1_ENST00000517373.1_Missense_Mutation_p.F490L|EBF1_ENST00000380654.4_Missense_Mutation_p.F527L|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	558					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.F558L(2)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGTGCGAAAGCACTCTTC	0.622000			T	HMGA2	lipoma								9	6					0	0	0.008291	0	0
KCNU1	157855	broad.mit.edu	37	8	36691143	36691143	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:36691143C>G	ENST00000399881.3	+	11	1215	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	393	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S393C(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTTCTGGATCTGCAATGAAG	0.398000													9	26					0	0	0.008291	0	0
RUNX3	864	broad.mit.edu	37	1	25291042	25291042	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:25291042G>A	ENST00000399916.1	-	1	459	c.21C>T	c.(19-21)ttC>ttT	p.F7F	RUNX3_ENST00000338888.3_Silent_p.F7F	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	252					cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.F7F(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGAAGGAGTCGAAGATGCTGT	0.587000													5	16					0	0	0.000602	0	0
THEMIS	387357	broad.mit.edu	37	6	128134882	128134882	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:128134882G>C	ENST00000368250.1	-	5	1165	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	THEMIS_ENST00000368248.2_Missense_Mutation_p.Q302E|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q302E|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q267E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	302	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q302E(2)		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						TTCCCAGGCTGTAAAATGCTT	0.398000													35	68					0	0	0.003271	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726441	25726441	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:25726441C>G	ENST00000297012.3	-	1	349	c.315G>C	c.(313-315)caG>caC	p.Q105H		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	105					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q105H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGACTCCGCCCTGGGCAATGG	0.507000													5	300					0	0	0.001168	0	0
SMARCC1	6599	broad.mit.edu	37	3	47663809	47663809	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:47663809C>G	ENST00000254480.5	-	25	2788	c.2669G>C	c.(2668-2670)aGa>aCa	p.R890T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	890					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.R890T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTGATCTTTCTTTCTTCCAC	0.378000													53	151					0	0	0.003610	0	0
PLXNC1	10154	broad.mit.edu	37	12	94613897	94613897	+	Silent	SNP	C	C	A	rs146510015		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:94613897C>A	ENST00000258526.4	+	6	1909	c.1660C>A	c.(1660-1662)Cgg>Agg	p.R554R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	554					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.R554R(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGCCCAACCGGACCTGCAC	0.458000													47	118					5.34276e-22	8.83495e-22	0.003610	1	0
NELL1	4745	broad.mit.edu	37	11	21592424	21592424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:21592424G>T	ENST00000298925.5	+	19	2332	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.G699C|NELL1_ENST00000532434.1_Missense_Mutation_p.G652C|NELL1_ENST00000325319.5_Missense_Mutation_p.G642C			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	699	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G699C(2)|p.G699S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGACCAAAATGGTCACAAGCT	0.473000													32	59					9.65021e-13	1.37993e-12	0.002096	1	0
ACSL5	51703	broad.mit.edu	37	10	114169302	114169302	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:114169302G>T	ENST00000393081.1	+	7	877	c.570G>T	c.(568-570)aaG>aaT	p.K190N	ACSL5_ENST00000354273.4_Missense_Mutation_p.K190N|ACSL5_ENST00000433418.1_Missense_Mutation_p.K190N|ACSL5_ENST00000356116.1_Missense_Mutation_p.K246N|ACSL5_ENST00000354655.4_Missense_Mutation_p.K190N	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	190					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.K246N(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCCAAAAGGCATTGGTGC	0.498000													46	118					5.73435e-26	9.86842e-26	0.003610	1	0
OXT	5020	broad.mit.edu	37	20	3052311	3052311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:3052311C>A	ENST00000217386.2	+	1	46	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	4					signal transduction		neurohypophyseal hormone activity	p.P4T(2)		lung(2)	2					Oxytocin(DB00107)	CATGGCCGGCCCCAGCCTCGC	0.692000													4	15					2.17888e-05	2.51933e-05	0.006214	1	0
CA10	56934	broad.mit.edu	37	17	49731069	49731069	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:49731069A>T	ENST00000451037.2	-	5	1434	c.494T>A	c.(493-495)cTa>cAa	p.L165Q	CA10_ENST00000285273.4_Missense_Mutation_p.L165Q|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.L165Q|CA10_ENST00000340813.6_Missense_Mutation_p.L171Q|CA10_ENST00000570565.1_Missense_Mutation_p.L90Q	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	165					brain development			p.L165Q(2)		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)			ATTCGTATATAGCTCATGGTT	0.408000													29	80					0	0	0.008361	0	0
PZP	5858	broad.mit.edu	37	12	9333633	9333633	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:9333633A>T	ENST00000261336.2	-	15	1813	c.1785T>A	c.(1783-1785)gcT>gcA	p.A595A	PZP_ENST00000381997.2_Silent_p.A464A	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.A595A(2)|p.A464A(2)		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						TTTGGTCCACAGCACGAAGGG	0.592000													13	26					0	0	0.001855	0	0
AHRR	57491	broad.mit.edu	37	5	434430	434430	+	Silent	SNP	G	G	A	rs111334085		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:434430G>A	ENST00000316418.5	+	12	1685	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P	AHRR_ENST00000512529.1_Silent_p.P375P|AHRR_ENST00000505113.1_Silent_p.P529P|AHRR_ENST00000506456.1_Silent_p.P385P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.P543P(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTGTGGTCCGACGCTGCTGC	0.622000													18	76					0	0	0.007413	0	0
BBS10	79738	broad.mit.edu	37	12	76740022	76740022	+	Silent	SNP	C	C	G	rs150530553		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:76740022C>G	ENST00000393262.3	-	2	1826	c.1743G>C	c.(1741-1743)ccG>ccC	p.P581P		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	581					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.P581P(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TACCCATATTCGGTAACTTAC	0.373000									Bardet-Biedl syndrome				19	53					0	0	0.007413	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786508	22786508	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr22:22786508C>T	ENST00000390301.2	+	0	98																											GTCCTGGGCCCAGTCTGTGCT	0.562000											OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	63					0	0	0.002299	0	0
SLC24A3	57419	broad.mit.edu	37	20	19674054	19674054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:19674054C>A	ENST00000328041.6	+	13	1673	c.1476C>A	c.(1474-1476)taC>taA	p.Y492*	RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	492						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.Y492*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTCTCCTACATGATGGTGT	0.488000													22	67					2.41591e-17	3.81058e-17	0.004656	1	0
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:32209435C>A	ENST00000396193.1	-	3	863	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Q90H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTATCCAGCTGTGGCAATT	0.483000													12	77					4.92203e-23	8.23118e-23	0.006230	1	0
ERBB4	2066	broad.mit.edu	37	2	212578346	212578346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:212578346C>A	ENST00000342788.4	-	8	1221	c.911G>T	c.(910-912)tGt>tTt	p.C304F	ERBB4_ENST00000402597.1_Missense_Mutation_p.C304F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C304F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	304	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	p.C304F(2)		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)		GGCACGCACACAAGAACTGGA	0.358000										TSP Lung(8;0.080)			17	20					9.7654e-05	0.000109491	0.007413	1	0
RHPN1	114822	broad.mit.edu	37	8	144460493	144460493	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144460493A>G	ENST00000289013.6	+	5	537	c.436A>G	c.(436-438)Agg>Ggg	p.R146G		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	146	BRO1.				signal transduction	intracellular		p.R146G(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GGCAGAAATCAGGGAGCTGGA	0.642000													3	6					0	0	0.004672	0	0
CCDC171	203238	broad.mit.edu	37	9	15591483	15591483	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:15591483A>T	ENST00000380701.3	+	5	800	c.472A>T	c.(472-474)Atg>Ttg	p.M158L	CCDC171_ENST00000297641.3_Missense_Mutation_p.M158L|CCDC171_ENST00000535968.1_Missense_Mutation_p.M158L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	158	Glu-rich.							p.M158L(1)									AAGAGACAATATGATCCAAAA	0.318000													3	36					0	0	0.004672	0	0
NUP155	9631	broad.mit.edu	37	5	37341209	37341209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:37341209C>A	ENST00000231498.3	-	11	1432	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	NUP155_ENST00000381843.2_Missense_Mutation_p.R351I|NUP155_ENST00000513532.1_Missense_Mutation_p.R410I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.R410I(2)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAAGAGCTCTATGTACTTT	0.353000													21	80					1.55795e-14	2.31735e-14	0.001882	1	0
IRAK3	11213	broad.mit.edu	37	12	66620547	66620547	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:66620547A>T	ENST00000261233.4	+	7	1119	c.698A>T	c.(697-699)gAg>gTg	p.E233V	IRAK3_ENST00000457197.2_Missense_Mutation_p.E172V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	233	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.E233V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTTTACAGAGACTGAGAAG	0.348000													20	70					0	0	0.002780	0	0
KRT3	3850	broad.mit.edu	37	12	53189613	53189613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:53189613C>A	ENST00000417996.2	-	1	288	c.214G>T	c.(214-216)Gct>Tct	p.A72S	KRT3_ENST00000309505.3_Missense_Mutation_p.A72S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	72	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.A72S(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCGCCAGCTGCCACGCTG	0.657000													35	101					4.01765e-15	6.06748e-15	0.009718	1	0
TLE3	7090	broad.mit.edu	37	15	70353100	70353100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:70353100C>G	ENST00000442299.2	-	8	1707	c.589G>C	c.(589-591)Gct>Cct	p.A197P	TLE3_ENST00000558201.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558939.1_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	197	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A197P(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGAGAAGCTGaactcctc	0.582000													4	14					0	0	0.009096	0	0
RELN	5649	broad.mit.edu	37	7	103137039	103137039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:103137039G>T	ENST00000424685.2	-	56	9286	c.9127C>A	c.(9127-9129)Ctg>Atg	p.L3043M	RELN_ENST00000343529.5_Missense_Mutation_p.L3043M|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.L3043M			P78509	RELN_HUMAN	reelin	3043					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.L3043M(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGTTGTCCAGTGCCCACTGA	0.468000													54	45					9.86064e-34	1.76894e-33	0.003610	1	0
L1TD1	54596	broad.mit.edu	37	1	62675610	62675610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:62675610T>A	ENST00000498273.1	+	4	1459	c.1164T>A	c.(1162-1164)gaT>gaA	p.D388E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	388	Glu-rich.							p.D388E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGCTGGATGAAGAGGCCT	0.488000													31	79					0	0	0.009535	0	0
CMTR2	55783	broad.mit.edu	37	16	71318653	71318653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:71318653C>A	ENST00000338099.5	-	3	1507	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E391*			Q8IYT2	FTSJ1_HUMAN		391						integral to membrane	methyltransferase activity|nucleic acid binding	p.E391*(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCAGCTTTTCTTGTTCCGCC	0.313000													5	13					0.000602214	0.000660205	0.000602	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147914552	147914552	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:147914552C>G	ENST00000361727.3	+	19	3699	c.3183C>G	c.(3181-3183)ccC>ccG	p.P1061P	CNTNAP2_ENST00000538075.1_Silent_p.P120P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1061P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGGCGCCCTGCATTCTCC	0.567000										HNSCC(39;0.1)			41	125					0	0	0.007835	0	0
HR	55806	broad.mit.edu	37	8	21977932	21977932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:21977932G>A	ENST00000381418.4	-	12	4179	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	HR_ENST00000312841.8_Missense_Mutation_p.A900V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	900							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.A900V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGCTCAGCGCCTGCACCTG	0.632000													33	91					0	0	0.003271	0	0
HMP19	51617	broad.mit.edu	37	5	173491286	173491286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:173491286A>T	ENST00000303177.3	+	3	443	c.181A>T	c.(181-183)Aag>Tag	p.K61*	NSG2_ENST00000521585.1_Nonsense_Mutation_p.K61*|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1												p.K61*(2)									GAACAAAGGGAAGTTCCGGGT	0.463000													53	60					0	0	0.003610	0	0
AMACR	23600	broad.mit.edu	37	5	33989433	33989433	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:33989433T>A	ENST00000335606.6	-	5	1002	c.914A>T	c.(913-915)cAt>cTt	p.H305L	AMACR_ENST00000502637.1_Missense_Mutation_p.H290L|AMACR_ENST00000382085.3_Missense_Mutation_p.H305L|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	305					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	p.H305L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTGATCATGATGAACAACCTC	0.532000													44	84					0	0	0.002852	0	0
LPPR4	9890	broad.mit.edu	37	1	99771388	99771388	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:99771388A>G	ENST00000370185.3	+	7	1611	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	LPPR4_ENST00000370184.1_Missense_Mutation_p.T214A|LPPR4_ENST00000457765.1_Missense_Mutation_p.T314A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		372							phosphatidate phosphatase activity	p.T372A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATTGCTCATACAGAAGGCAT	0.468000													40	91					0	0	0.002522	0	0
WDR81	124997	broad.mit.edu	37	17	1640949	1640949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:1640949A>T	ENST00000409644.1	+	10	5796	c.5796A>T	c.(5794-5796)tcA>tcT	p.S1932S	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.S563S|WDR81_ENST00000437219.2_Silent_p.S729S|WDR81_ENST00000446363.1_Silent_p.S571S|WDR81_ENST00000309182.5_Silent_p.S881S|WDR81_ENST00000419248.1_Silent_p.S705S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	705								p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTGGGCTCAGACAACGGGG	0.652000													22	35					0	0	0.005443	0	0
OVCH1	341350	broad.mit.edu	37	12	29597135	29597135	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:29597135A>T	ENST00000318184.5	-	24	2959	c.2960T>A	c.(2959-2961)cTg>cAg	p.L987Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	987					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L987Q(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGCTTGGTCAGAAGAACATC	0.418000													24	66					0	0	0.002299	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181953	140181953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140181953C>A	ENST00000522353.2	+	1	1171	c.1171C>A	c.(1171-1173)Ccc>Acc	p.P391T	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P391T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.P391T(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGACGCCCCACGTCCC	0.567000													60	200					5.10652e-33	9.07826e-33	0.003610	1	0
SIDT2	51092	broad.mit.edu	37	11	117058369	117058369	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:117058369T>A	ENST00000324225.4	+	12	1644	c.1113T>A	c.(1111-1113)ggT>ggA	p.G371G	SIDT2_ENST00000431081.2_Silent_p.G375G	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	371						integral to membrane|lysosomal membrane		p.G371G(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTACCGATGGTCTGGTTGACA	0.612000													31	72					0	0	0.006230	0	0
KIRREL3	84623	broad.mit.edu	37	11	126316711	126316711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:126316711G>T	ENST00000525144.2	-	9	1317	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.C356*|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.C356*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	356	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGGTCCAGGCGCAGCTGAAGA	0.627000													3	5					0.004672	0.00501055	0.004672	1	0
OR11H6	122748	broad.mit.edu	37	14	20692109	20692109	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:20692109C>A	ENST00000315519.2	+	1	319	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTACATCCTTCTGGGAAACTT	0.463000													35	76					3.67414e-24	6.21455e-24	0.002445	1	0
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:56459349G>T	ENST00000291971.3	+	1	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W27C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	27						cytoplasm	ATP binding	p.W27C(2)|p.W27*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCGCCCTGGACATTCTCTT	0.512000													24	129					3.08376e-08	3.94295e-08	0.003330	1	0
CHST4	10164	broad.mit.edu	37	16	71571552	71571552	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:71571552C>A	ENST00000338482.5	+	3	1315	c.972C>A	c.(970-972)gcC>gcA	p.A324A	RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.A324A|CHST4_ENST00000572450.1_Silent_p.A324A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	324					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.A324A(2)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACACAAATGCCAGGGATGCCC	0.522000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	29					1.3612e-06	1.65809e-06	0.003163	1	0
VIT	5212	broad.mit.edu	37	2	37000953	37000953	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:37000953C>T	ENST00000379242.3	+	8	1001	c.699C>T	c.(697-699)acC>acT	p.T233T	VIT_ENST00000401530.1_Silent_p.T233T|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Silent_p.T233T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Silent_p.T233T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	233						proteinaceous extracellular matrix		p.T233T(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACTGCCACCTACACAAGCA	0.403000													9	30					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179642042	179642042	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:179642042C>A	ENST00000589042.1	-	27	4872	c.4648G>T	c.(4648-4650)Gtg>Ttg	p.V1550L	TTN_ENST00000342992.6_Missense_Mutation_p.V1550L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V1550L|TTN_ENST00000460472.2_Missense_Mutation_p.V1504L|TTN_ENST00000359218.5_Missense_Mutation_p.V1504L|TTN_ENST00000342175.6_Missense_Mutation_p.V1504L|TTN_ENST00000360870.5_Missense_Mutation_p.V1550L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1550							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V1504L(6)|p.V1550L(6)		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)			TGATGTTCCACAGCTGAAAGA	0.348000													21	37					1.55795e-14	2.31735e-14	0.001882	1	0
HGF	3082	broad.mit.edu	37	7	81331986	81331986	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:81331986G>T	ENST00000222390.5	-	18	2324	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	HGF_ENST00000457544.2_Missense_Mutation_p.P695T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	700	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P700T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGACGATTTGGAATGGCACAT	0.398000													29	17					1.32181e-22	2.20426e-22	0.007291	1	0
AK5	26289	broad.mit.edu	37	1	77987585	77987585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:77987585G>T	ENST00000344720.5	+	12	2333	c.1307G>T	c.(1306-1308)gGc>gTc	p.G436V	AK5_ENST00000354567.2_Missense_Mutation_p.G462V	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	462					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.G462V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTGATTGACGGCTATCCTCGG	0.577000													10	30					1.08611e-07	1.35649e-07	0.000978	1	0
VDR	7421	broad.mit.edu	37	12	48238559	48238559	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:48238559C>A	ENST00000229022.3	-	11	1535	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	VDR_ENST00000549336.1_Silent_p.V418V|VDR_ENST00000535672.1_Silent_p.V386V|VDR_ENST00000395324.2_Silent_p.V418V|VDR_ENST00000550325.1_Silent_p.V468V	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	418	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	p.V418V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACACTTCGAGCACAAGGGGCG	0.632000													31	94					4.31634e-10	5.79427e-10	0.002445	1	0
ABCA13	154664	broad.mit.edu	37	7	48550739	48550739	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:48550739A>T	ENST00000435803.1	+	51	13608	c.13584A>T	c.(13582-13584)acA>acT	p.T4528T	ABCA13_ENST00000544596.1_Silent_p.T258T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4528					transport	integral to membrane	ATP binding|ATPase activity	p.T4473T(2)|p.T4528T(2)		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						TCCAGTTAACAGCTTTTACTT	0.458000													12	97					0	0	0.001855	0	0
PRRC1	133619	broad.mit.edu	37	5	126859188	126859188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:126859188G>C	ENST00000442138.2	+	2	163	c.17G>C	c.(16-18)gGa>gCa	p.G6A	PRRC1_ENST00000296666.8_Missense_Mutation_p.G6A|PRRC1_ENST00000512635.2_Missense_Mutation_p.G6A			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	6						Golgi apparatus		p.G6A(2)		endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAAGAGAGTGGAATAGAGACA	0.378000													10	30					0	0	0.006214	0	0
GPM6A	2823	broad.mit.edu	37	4	176573023	176573023	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:176573023A>T	ENST00000280187.7	-	5	548	c.503T>A	c.(502-504)gTg>gAg	p.V168E	GPM6A_ENST00000506894.1_Missense_Mutation_p.V157E|GPM6A_ENST00000393658.2_Missense_Mutation_p.V168E|GPM6A_ENST00000515090.1_Missense_Mutation_p.V161E	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	168						cell surface|integral to membrane		p.V168E(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TGCTCCCTCCACTAATGTGGT	0.458000													11	48					0	0	0.001855	0	0
MMP26	56547	broad.mit.edu	37	11	5011855	5011855	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:5011855G>A	ENST00000380390.1	+	4	564	c.348G>A	c.(346-348)aaG>aaA	p.K116K	MMP26_ENST00000300762.1_Silent_p.K116K			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	116					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K116K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGATATGAAGCCATCCGCAG	0.388000													20	68					0	0	0.010504	0	0
GPR128	84873	broad.mit.edu	37	3	100328780	100328780	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:100328780T>A	ENST00000273352.3	+	1	348	c.80T>A	c.(79-81)cTg>cAg	p.L27Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	27					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L27Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTTTGGGACTGGGCATCTGG	0.517000													28	98					0	0	0.009535	0	0
C14orf93	60686	broad.mit.edu	37	14	23468201	23468201	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:23468201G>A	ENST00000299088.6	-	2	461	c.32C>T	c.(31-33)cCt>cTt	p.P11L	C14orf93_ENST00000397382.4_Missense_Mutation_p.P11L|C14orf93_ENST00000397377.1_Intron|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.P11L|C14orf93_ENST00000341470.4_Missense_Mutation_p.P11L|C14orf93_ENST00000397379.3_Missense_Mutation_p.P11L	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	11						extracellular region		p.P11L(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCCACTGGGAGGGGAGAAGAG	0.592000													28	105					0	0	0.002096	0	0
FBN2	2201	broad.mit.edu	37	5	127710389	127710389	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:127710389C>A	ENST00000508053.1	-	21	3001	c.2027G>T	c.(2026-2028)aGt>aTt	p.S676I	FBN2_ENST00000262464.4_Missense_Mutation_p.S676I|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.S643I			P35556	FBN2_HUMAN	fibrillin 2	676	EGF-like 10; 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	p.S676I(4)		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)		GGACCCTTCACTGTTGATGCA	0.507000													11	75					1.58986e-06	1.92082e-06	0.008291	1	0
NALCN	259232	broad.mit.edu	37	13	101997748	101997748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:101997748G>T	ENST00000251127.6	-	7	749	c.668C>A	c.(667-669)gCt>gAt	p.A223D	NALCN_ENST00000376196.3_Missense_Mutation_p.A223D|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	223						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.A223D(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCTGGAATAGCTAAACTATT	0.398000													18	53					2.35188e-11	3.23794e-11	0.006122	1	0
TMEM2	23670	broad.mit.edu	37	9	74300223	74300223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:74300223C>A	ENST00000377044.4	-	24	4581	c.4042G>T	c.(4042-4044)Gtg>Ttg	p.V1348L	TMEM2_ENST00000396272.3_Missense_Mutation_p.V341L|TMEM2_ENST00000377066.5_Missense_Mutation_p.V1285L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1348						integral to membrane		p.V1348L(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTCAAGCACCCCAAGGCCC	0.443000													38	84					6.70999e-13	9.61819e-13	0.004289	1	0
FSCB	84075	broad.mit.edu	37	14	44974151	44974151	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:44974151A>T	ENST00000340446.4	-	1	2331	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	680	Ala-rich.					cilium		p.A680A(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTGAACTTCAGCAGGGGCCT	0.612000													15	36					0	0	0.003163	0	0
ADORA1	134	broad.mit.edu	37	1	203134620	203134620	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:203134620C>T	ENST00000367236.4	+	3	1494	c.573C>T	c.(571-573)ccC>ccT	p.P191P	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.P191P|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.P191P	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	191					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.P191P(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGGTGCTGCCCCCGCTTCTCC	0.567000													46	152					0	0	0.003610	0	0
SEMA7A	8482	broad.mit.edu	37	15	74707191	74707191	+	Silent	SNP	C	C	T	rs147975982		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:74707191C>T	ENST00000261918.4	-	9	1631	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SEMA7A_ENST00000542748.1_Silent_p.P196P|SEMA7A_ENST00000543145.2_Silent_p.P347P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	361	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.P361P(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCCAGGCCGCGGGTTGGGAA	0.627000													10	73					0	0	0.008291	0	0
NCL	4691	broad.mit.edu	37	2	232326670	232326670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:232326670A>G	ENST00000322723.4	-	3	434	c.194T>C	c.(193-195)gTc>gCc	p.V65A		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	65	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	p.V65A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGGGAAACGACCACCTTCTT	0.493000													8	312					0	0	0.003080	0	0
CHD6	84181	broad.mit.edu	37	20	40122580	40122580	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:40122580T>C	ENST00000373233.3	-	9	1274	c.1097A>G	c.(1096-1098)gAt>gGt	p.D366G	CHD6_ENST00000309279.7_Missense_Mutation_p.D366G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	366					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.D366G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAGTCTTCATCAGGCTAACA	0.488000													3	48					0	0	0.004672	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053711	35053711	+	Missense_Mutation	SNP	G	G	T	rs143845391		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:35053711G>T	ENST00000360359.3	+	22	3439	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1101						cytoplasm	protein binding	p.A1101S(1)|p.A427S(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGAAATCCGCAGTACGTGG	0.622000													10	26					1.58986e-06	1.92082e-06	0.008291	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395969	38395969	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:38395969A>G	ENST00000377698.3	+	2	377	c.224A>G	c.(223-225)gAt>gGt	p.D75G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GACCGGGCTGATGTGGATCGG	0.642000													40	122					0	0	0.003610	0	0
KDM5B	10765	broad.mit.edu	37	1	202699059	202699059	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:202699059C>G	ENST00000367265.3	-	26	5437	c.4273G>C	c.(4273-4275)Gaa>Caa	p.E1425Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1461Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1425					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E1425Q(2)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTAACTCGTTCCCACCGCTCA	0.478000													160	145					0	0	0.003610	0	0
HNF4A	3172	broad.mit.edu	37	20	43034856	43034856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:43034856C>A	ENST00000316099.3	+	2	363	c.274C>A	c.(274-276)Cac>Aac	p.H92N	HNF4A_ENST00000443598.2_Missense_Mutation_p.H92N|HNF4A_ENST00000415691.1_Missense_Mutation_p.H92N|HNF4A_ENST00000457232.1_Missense_Mutation_p.H70N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	92					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.H92N(4)|p.H70N(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGAAGAACCACATGTACTC	0.607000													28	57					4.59853e-10	6.11759e-10	0.005443	1	0
GPATCH1	55094	broad.mit.edu	37	19	33588796	33588796	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:33588796A>G	ENST00000170564.2	+	8	1302	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	330						catalytic step 2 spliceosome	nucleic acid binding	p.K330E(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAGGCAGTATAAAAACCAGAA	0.507000													34	126					0	0	0.007835	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178770885	178770885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:178770885C>T	ENST00000251582.7	-	2	518	c.417G>A	c.(415-417)tgG>tgA	p.W139*	ADAMTS2_ENST00000274609.5_Nonsense_Mutation_p.W139*	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	139					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W139*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCTCGCCCTGCCACTCCATAG	0.687000													3	14					0	0	0.004672	0	0
FMNL1	752	broad.mit.edu	37	17	43320574	43320574	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:43320574C>A	ENST00000331495.3	+	17	2436	c.2100C>A	c.(2098-2100)gcC>gcA	p.A700A	FMNL1_ENST00000328118.3_Silent_p.A700A|FMNL1_ENST00000587489.1_Silent_p.A278A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	700	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.A700A(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTAAGGCAGCCCAGAAGGCCC	0.597000													57	149					6.09941e-20	9.91991e-20	0.003610	1	0
BSN	8927	broad.mit.edu	37	3	49691797	49691797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:49691797C>T	ENST00000296452.4	+	5	4922	c.4808C>T	c.(4807-4809)tCt>tTt	p.S1603F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1603					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.S1603F(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGAGTGTGTCTCAGCTGCCC	0.642000													13	30					0	0	0.002450	0	0
CRB1	23418	broad.mit.edu	37	1	197390141	197390141	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:197390141G>A	ENST00000367400.3	+	6	1318	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.E326K|CRB1_ENST00000543483.1_Missense_Mutation_p.E94K|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.E395K|CRB1_ENST00000367399.2_Missense_Mutation_p.E283K|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	395	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E395K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCCACTGCGAAGAAGACGT	0.343000													39	182					0	0	0.006999	0	0
DPP6	1804	broad.mit.edu	37	7	153584797	153584797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:153584797C>T	ENST00000404039.1	+	1	616	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A10V(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCAAGACCGCTAAGATGCAG	0.577000													13	68					0	0	0.001855	0	0
APOB	338	broad.mit.edu	37	2	21228213	21228213	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:21228213C>A	ENST00000233242.1	-	26	11654	c.11527G>T	c.(11527-11529)Gta>Tta	p.V3843L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3843					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	p.V3843L(1)		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)	TTGTTGGCTACTGCATTTAGA	0.453000													4	156					0.00909568	0.00971957	0.009096	1	0
PTPRN2	5799	broad.mit.edu	37	7	157997861	157997861	+	Splice_Site	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:157997861A>C	ENST00000389413.3	-	4	484		c.e4+1		PTPRN2_ENST00000404321.2_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000389418.4_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCACACTTACCTGGCTGGG	0.488000													18	62					0	0	0.002445	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081590	143081590	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:143081590G>A	ENST00000367603.2	-	9	6577	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S	HIVEP2_ENST00000012134.2_Silent_p.S1945S|HIVEP2_ENST00000367604.1_Silent_p.S1945S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1945S(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCACAGGCAAGGAGGAGAATC	0.463000													8	58					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9063110	9063110	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:9063110C>G	ENST00000397910.4	-	3	24539	c.24336G>C	c.(24334-24336)caG>caC	p.Q8112H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8114	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q8112H(2)|p.Q3745H(1)		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						TTGGTTCTGTCTGAATTCTGC	0.498000													4	172					0	0	0.009096	0	0
FLNA	2316	broad.mit.edu	37	X	153588257	153588257	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:153588257G>C	ENST00000422373.1	-	23	4070	c.3822C>G	c.(3820-3822)gcC>gcG	p.A1274A	FLNA_ENST00000369850.3_Silent_p.A1274A|FLNA_ENST00000360319.4_Silent_p.A1274A|FLNA_ENST00000344736.4_Silent_p.A1274A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1274					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A1274A(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGTGGTGGCCTCACGGA	0.657000													41	62					0	0	0.003610	0	0
EPHX1	2052	broad.mit.edu	37	1	226016497	226016497	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:226016497A>C	ENST00000366837.4	+	2	263	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q	EPHX1_ENST00000272167.5_Missense_Mutation_p.K23Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	23					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.K23Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCGGGACAAAGAGGAAAC	0.562000													25	33					0	0	0.003954	0	0
SYT11	23208	broad.mit.edu	37	1	155851156	155851156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:155851156G>A	ENST00000368324.4	+	4	1406	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	SYT11_ENST00000539162.1_Missense_Mutation_p.D78N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	385	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D385N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TATCGACTTCGATCGCACCAC	0.542000													55	1019					0	0	0.003610	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567728	99567728	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:99567728G>C	ENST00000331335.5	-	5	3262	c.2792C>G	c.(2791-2793)aCg>aGg	p.T931R	FILIP1L_ENST00000354552.3_Missense_Mutation_p.T931R|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T507R|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T691R|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T691R	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	931						cytoplasm|membrane|myosin complex|nucleus		p.T931R(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGCAGTACTCGTGTAAGAGTG	0.473000													85	275					0	0	0.003610	0	0
NBPF1	55672	broad.mit.edu	37	1	16892902	16892902	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:16892902C>A	ENST00000430580.2	-	26	3779		c.e26+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 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)		CTCAAAGTTACCTGGGGCATG	0.413000													12	827					3.07112e-06	3.62895e-06	0.000978	1	0
MMP17	4326	broad.mit.edu	37	12	132335487	132335487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:132335487C>T	ENST00000360564.1	+	10	1582	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	MMP17_ENST00000535004.1_Missense_Mutation_p.R34C|MMP17_ENST00000535291.1_Missense_Mutation_p.R410C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	494	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R494C(2)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTACTTCTTCCGTGGCCAGGA	0.657000													11	33					0	0	0.001855	0	0
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1008	Repeat.|Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582000													3	5					0	0	0.000602	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090337	238090337	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:238090337C>G	ENST00000450451.1	+	0	1843					NR_027247.2																						CCTGAAGTACCCCATTGAGCA	0.607000													21	28					0	0	0.010504	0	0
NUDT16	131870	broad.mit.edu	37	3	131101022	131101022	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:131101022G>A	ENST00000359850.3	+	2	311	c.172G>A	c.(172-174)Gag>Aag	p.E58K	NUDT16_ENST00000502852.1_Missense_Mutation_p.E91K|NUDT16_ENST00000521288.1_Missense_Mutation_p.E91K|NUDT16_ENST00000537561.1_Missense_Mutation_p.E45K	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	91	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	p.E58K(2)		large_intestine(1)|lung(6)	7						TTTCCGCGTGGAGCGCACTGA	0.672000													9	27					0	0	0.001882	0	0
NCF1B	654816	broad.mit.edu	37	7	72645953	72645953	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:72645953G>A	ENST00000423083.1	+	0	988					NR_003186.1																						GACGGCTGGTGGGTCATCAGG	0.612000													33	18					0	0	0.003610	0	0
FER	2241	broad.mit.edu	37	5	108281839	108281839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:108281839G>T	ENST00000281092.4	+	11	1629	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	FER_ENST00000438717.2_Missense_Mutation_p.K240N|FER_ENST00000536402.1_Missense_Mutation_p.R311M	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	415					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.K415N(2)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGGAAAGAAAGGAGAGGCTAT	0.373000													20	17					2.4624e-09	3.22509e-09	0.008871	1	0
DMP1	1758	broad.mit.edu	37	4	88583970	88583970	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:88583970C>G	ENST00000339673.6	+	6	1139	c.1040C>G	c.(1039-1041)tCa>tGa	p.S347*	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Nonsense_Mutation_p.S331*	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	347					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.S347*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GCCAACCTGTCATCTCAAGAG	0.522000													5	219					0	0	0.000602	0	0
MED12L	116931	broad.mit.edu	37	3	151101922	151101922	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:151101922G>A	ENST00000474524.1	+	33	4775	c.4737G>A	c.(4735-4737)acG>acA	p.T1579T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.T1439T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1579					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.T1579T(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAATGGAACGTTAGCCTCTG	0.353000													4	57					0	0	0.009096	0	0
ZNF23	7571	broad.mit.edu	37	16	71482343	71482343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:71482343C>A	ENST00000393539.2	-	6	2398	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.E529*|ZNF23_ENST00000539742.1_5'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.E529*|ZNF23_ENST00000564528.1_Nonsense_Mutation_p.E471*|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.E471*|AC010547.9_ENST00000561908.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E529*(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAAGGTTTCTCCCCAGTATGT	0.418000													31	56					1.13719e-10	1.54408e-10	0.008361	1	0
GAREM	64762	broad.mit.edu	37	18	29867330	29867330	+	Silent	SNP	C	C	A	rs146498252		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:29867330C>A	ENST00000399218.4	-	4	1285	c.1230G>T	c.(1228-1230)ggG>ggT	p.G410G	GAREM_ENST00000269209.6_Silent_p.G410G	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.G410G(2)									CCCAATCTCCCCCCAGGTCCC	0.537000													27	102					7.92952e-12	1.10454e-11	0.003954	1	0
LAMA1	284217	broad.mit.edu	37	18	7015801	7015801	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:7015801A>T	ENST00000389658.3	-	22	3139	c.3046T>A	c.(3046-3048)Tgc>Agc	p.C1016S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1016	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.C1016S(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGGGGGGCAGACACACTCT	0.552000													36	126					0	0	0.005524	0	0
NUTM1	256646	broad.mit.edu	37	15	34640257	34640257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:34640257C>A	ENST00000537011.1	+	3	570	c.188C>A	c.(187-189)tCt>tAt	p.S63Y	NUTM1_ENST00000438749.3_Missense_Mutation_p.S53Y|NUTM1_ENST00000333756.4_Missense_Mutation_p.S35Y					NUT midline carcinoma, family member 1									p.S35Y(2)									CCACCAACTTCTGACCCACCA	0.572000													54	136					9.22156e-22	1.52066e-21	0.003610	1	0
LRRC32	2615	broad.mit.edu	37	11	76371973	76371973	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:76371973C>A	ENST00000407242.2	-	3	906	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	LRRC32_ENST00000404995.1_Missense_Mutation_p.V222L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.V222L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	222						integral to plasma membrane		p.V222L(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGTCTAGCACCCGCAGCTGC	0.622000													28	60					3.62531e-18	5.80049e-18	0.004289	1	0
DOCK2	1794	broad.mit.edu	37	5	169494661	169494661	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:169494661G>T	ENST00000256935.8	+	45	4695	c.4615G>T	c.(4615-4617)Gtc>Ttc	p.V1539F	DOCK2_ENST00000520908.1_Missense_Mutation_p.V1031F|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.V600F	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1539	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.V1539F(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACCCTGCTGTCATGGGAGG	0.547000													19	174					1.87028e-06	2.24131e-06	0.001882	1	0
STXBP5L	9515	broad.mit.edu	37	3	120973837	120973837	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:120973837G>T	ENST00000273666.6	+	16	1808	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	STXBP5L_ENST00000492541.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D513Y	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	513					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.D513Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTAGAGGAAGACCCATTTGC	0.363000													13	35					1.5842e-08	2.03437e-08	0.001855	1	0
DOPEY2	9980	broad.mit.edu	37	21	37664514	37664514	+	Missense_Mutation	SNP	C	C	G	rs34428315		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr21:37664514C>G	ENST00000399151.3	+	36	6713	c.6628C>G	c.(6628-6630)Cta>Gta	p.L2210V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2210					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.L2210V(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTAGAACTTCTAAAATTAAA	0.428000													22	51					0	0	0.010504	0	0
PTBP2	58155	broad.mit.edu	37	1	97278637	97278637	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:97278637A>T	ENST00000236228.6	+	13	1523	c.1441A>T	c.(1441-1443)Act>Tct	p.T481S	PTBP2_ENST00000394184.3_Missense_Mutation_p.T497S|PTBP2_ENST00000370197.1_Missense_Mutation_p.T486S|PTBP2_ENST00000370198.1_Missense_Mutation_p.T486S|PTBP2_ENST00000426398.2_Missense_Mutation_p.T481S|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	481	RRM 4.						nucleotide binding	p.T481S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CACTGGGGGCACTGTGAAAGC	0.333000													19	58					0	0	0.010504	0	0
LRRC49	54839	broad.mit.edu	37	15	71305143	71305143	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:71305143G>C	ENST00000260382.5	+	14	1854	c.1593_splice	c.e14-1	p.V532_splice	LRRC49_ENST00000560158.2_Splice_Site_p.V220_splice|LRRC49_ENST00000560691.1_Splice_Site_p.V238_splice|LRRC49_ENST00000443425.2_Splice_Site_p.V488_splice|LRRC49_ENST00000560369.1_Splice_Site_p.V537_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Splice_Site_p.V522_splice	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	532						cytoplasm|microtubule		p.V532L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCTCTTCAGGTGACACAGAA	0.373000													10	26					0	0	0.008291	0	0
ALPK1	80216	broad.mit.edu	37	4	113350384	113350384	+	Missense_Mutation	SNP	C	C	T	rs34120296		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:113350384C>T	ENST00000458497.1	+	10	1154	c.875C>T	c.(874-876)aCg>aTg	p.T292M	ALPK1_ENST00000504176.2_Missense_Mutation_p.T214M|ALPK1_ENST00000177648.9_Missense_Mutation_p.T292M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	292			T -> M (in dbSNP:rs34120296).				ATP binding|protein serine/threonine kinase activity	p.T292M(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGTGCCTATACGCCGCTCTTC	0.557000													42	110					0	0	0.003610	0	0
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:116430678C>T	ENST00000395715.3	-	6	3280	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	TRPS1_ENST00000520276.1_Silent_p.R892R|TRPS1_ENST00000519076.1_Silent_p.R642R|TRPS1_ENST00000220888.5_Silent_p.R888R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888			T -> P (in TRPS3; severe).		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCCTCTACGCCTCTGAAACA	0.473000									Langer-Giedion syndrome				24	82					0	0	0.003954	0	0
HDAC5	10014	broad.mit.edu	37	17	42168703	42168703	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:42168703T>A	ENST00000225983.6	-	11	1648	c.1325A>T	c.(1324-1326)cAt>cTt	p.H442L	HDAC5_ENST00000393622.2_Missense_Mutation_p.H441L|HDAC5_ENST00000586802.1_Missense_Mutation_p.H441L|HDAC5_ENST00000336057.5_Missense_Mutation_p.H441L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	441					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.H441L(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CAGGGAGGCATGCCCGTGGGG	0.662000													6	23					0	0	0.003080	0	0
GPX7	2882	broad.mit.edu	37	1	53073948	53073948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:53073948G>A	ENST00000361314.4	+	3	453	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	139					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.E139K(2)		breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	TTCTGGGAAGGAGCCCACCTG	0.552000													42	107					0	0	0.002522	0	0
NMS	129521	broad.mit.edu	37	2	101093867	101093867	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:101093867T>A	ENST00000376865.1	+	5	259	c.252T>A	c.(250-252)gtT>gtA	p.V84V		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	84					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.V84V(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CACATCCAGTTAAAACTGGGG	0.368000													13	32					0	0	0.001855	0	0
AGAP11	119385	broad.mit.edu	37	10	88769369	88769369	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:88769369C>G	ENST00000444431.1	+	0	3969				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCTGGGCCAGCACCTGCTGCG	0.607000													43	126					0	0	0.002522	0	0
KNTC1	9735	broad.mit.edu	37	12	123041966	123041966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:123041966G>T	ENST00000333479.7	+	17	1485	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E399D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	436					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.E436D(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATATTGGAGAAACTGGCAT	0.383000													16	36					2.31682e-05	2.66322e-05	0.003163	1	0
COL3A1	1281	broad.mit.edu	37	2	189875383	189875383	+	Missense_Mutation	SNP	G	G	T	rs140646380	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:189875383G>T	ENST00000304636.3	+	50	4191	c.4021G>T	c.(4021-4023)Ggc>Tgc	p.G1341C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1038C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1341	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G1341C(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTTTAGCTACGGCAATCCTGA	0.408000													37	60					1.15505e-17	1.83321e-17	0.009718	1	0
GIT1	28964	broad.mit.edu	37	17	27910597	27910597	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:27910597C>A	ENST00000225394.3	-	2	338	c.90G>T	c.(88-90)gtG>gtT	p.V30V	GIT1_ENST00000579937.1_Silent_p.V30V|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Silent_p.V30V|GIT1_ENST00000394869.3_Silent_p.V30V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	30	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	p.V30V(4)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ACTCGTCACACACCAGCACAC	0.657000													7	17					8.12818e-05	9.13071e-05	0.001984	1	0
CHD6	84181	broad.mit.edu	37	20	40042045	40042045	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:40042045C>T	ENST00000373233.3	-	35	7227	c.7050G>A	c.(7048-7050)gaG>gaA	p.E2350E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2350					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.E2350E(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAATGGATTTCTCGGCTTGGC	0.592000													6	35					0	0	0.003080	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396022	1396022	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:1396022G>T	ENST00000324385.5	+	24	2507	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	BAIAP3_ENST00000562208.1_Silent_p.L725L|BAIAP3_ENST00000397488.2_Silent_p.L765L|BAIAP3_ENST00000421665.2_Silent_p.L712L|BAIAP3_ENST00000568887.1_Silent_p.L720L|BAIAP3_ENST00000426824.3_Silent_p.L748L|BAIAP3_ENST00000397489.1_Silent_p.L765L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	783	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.L783L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ATACGGAGCTGCTTCGGAAGA	0.682000													7	33					0.000157383	0.000175463	0.003080	1	0
HIPK2	28996	broad.mit.edu	37	7	139285223	139285223	+	Missense_Mutation	SNP	C	C	A	rs56132157		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:139285223C>A	ENST00000406875.3	-	11	2469	c.2375G>T	c.(2374-2376)cGg>cTg	p.R792L	HIPK2_ENST00000342645.6_Missense_Mutation_p.R792L|HIPK2_ENST00000428878.2_Missense_Mutation_p.R765L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	792	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		R -> Q.		apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R792L(4)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGCTGCTGCCGCATCACGTG	0.567000													22	75					1.10923e-09	1.47234e-09	0.002780	1	0
KDR	3791	broad.mit.edu	37	4	55961743	55961743	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:55961743C>A	ENST00000263923.4	-	20	3113		c.e20+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGACATACCTTGTAGGGG	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			10	49					3.27435e-08	4.17762e-08	0.002450	1	0
TENM1	10178	broad.mit.edu	37	X	124097430	124097430	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:124097430T>G	ENST00000422452.2	-	1	236	c.173A>C	c.(172-174)aAt>aCt	p.N58T	TENM1_ENST00000371130.3_Missense_Mutation_p.N58T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.N58T(2)									ACTCTGGCTATTGTAATTCAT	0.368000													109	164					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54304481	54304481	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:54304481C>A	ENST00000324134.6	-	7	2924	c.2756_splice	c.e7+1	p.R919_splice	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Splice_Site_p.R920_splice|NLRP12_ENST00000391775.3_Splice_Site_p.R919_splice|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Splice_Site_p.R920_splice|NLRP12_ENST00000535162.1_Splice_Site_p.R919_splice	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	919					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R919L(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGGACTCACCGCAGGGTCTG	0.617000													22	50					3.5997e-14	5.32755e-14	0.002299	1	0
FHL5	9457	broad.mit.edu	37	6	97052766	97052766	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:97052766C>T	ENST00000326771.2	+	4	680	c.300C>T	c.(298-300)tcC>tcT	p.S100S	FHL5_ENST00000541107.1_Silent_p.S100S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	100	LIM zinc-binding 1.					nucleus	zinc ion binding	p.S100S(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGTGCTCCTCCAAGTGCTTCC	0.512000													13	33					0	0	0.001368	0	0
STXBP5	134957	broad.mit.edu	37	6	147680270	147680270	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:147680270A>C	ENST00000367481.3	+	21	2356	c.2248A>C	c.(2248-2250)Att>Ctt	p.I750L	STXBP5_ENST00000321680.6_Missense_Mutation_p.I786L|STXBP5_ENST00000179882.6_Missense_Mutation_p.I441L|STXBP5_ENST00000367480.3_Missense_Mutation_p.I733L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	786					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.I786L(2)|p.I750L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTAACAAGCATTGACAAAGA	0.418000													13	41					0	0	0.001855	0	0
NUF2	83540	broad.mit.edu	37	1	163317609	163317609	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:163317609G>C	ENST00000271452.3	+	12	1284	c.1005G>C	c.(1003-1005)aaG>aaC	p.K335N	NUF2_ENST00000367900.3_Missense_Mutation_p.K335N|NUF2_ENST00000524800.1_Missense_Mutation_p.K288N	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	335	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.K335N(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGAAATTGAAGACTGAAGAAA	0.333000													6	47					0	0	0.001984	0	0
MTUS2	23281	broad.mit.edu	37	13	30066847	30066847	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:30066847G>C	ENST00000431530.3	+	10	3658	c.3600G>C	c.(3598-3600)ctG>ctC	p.L1200L	MTUS2_ENST00000380808.2_Silent_p.L169L|MTUS2_ENST00000542829.1_Silent_p.L79L	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1190						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.L1200L(2)|p.L169L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGCGGCTGTCATTGCAGG	0.363000													14	48					0	0	0.003163	0	0
ELK3	2004	broad.mit.edu	37	12	96653534	96653534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:96653534C>T	ENST00000228741.3	+	4	1354	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	ELK3_ENST00000552142.1_Missense_Mutation_p.P78L|ELK3_ENST00000549529.1_3'UTR	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	343					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P343L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTTCTGACTCCGAGTCCACTG	0.527000													8	147					0	0	0.004482	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369202	20369202	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:20369202G>T	ENST00000593655.1	-	0	199																											TGAAATCAAGGATCTTATGGT	0.388000													51	124					7.05377e-20	1.14406e-19	0.003610	1	0
DLGAP2	9228	broad.mit.edu	37	8	1581027	1581027	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:1581027C>A	ENST00000421627.2	+	5	1519	c.1385C>A	c.(1384-1386)tCc>tAc	p.S462Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	541					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S506Y(2)|p.S484Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAATTCGAGTCCGTGTGCGAG	0.567000													11	26					2.80697e-09	3.66828e-09	0.000978	1	0
TCHH	7062	broad.mit.edu	37	1	152082789	152082789	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152082789C>G	ENST00000368804.1	-	2	2903	c.2904G>C	c.(2902-2904)caG>caC	p.Q968H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	968	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.Q968H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcttccttctgctgcagct	0.567000													34	977					0	0	0.008361	0	0
RYR1	6261	broad.mit.edu	37	19	38939385	38939385	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:38939385T>G	ENST00000355481.4	+	11	1185	c.1054T>G	c.(1054-1056)Tca>Gca	p.S352A	RYR1_ENST00000360985.3_Missense_Mutation_p.S352A|RYR1_ENST00000359596.3_Missense_Mutation_p.S352A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	352	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S352A(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCATGTGGCCTCAGGACTGTG	0.617000													28	84					0	0	0.008361	0	0
FUT1	2523	broad.mit.edu	37	19	49253722	49253722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:49253722C>A	ENST00000310160.3	-	4	1791	c.817G>T	c.(817-819)Gac>Tac	p.D273Y		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	273					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	p.D273Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGGAGGTGTCGATGTTTTCT	0.587000													54	126					4.25531e-23	7.13639e-23	0.003610	1	0
SPAG17	200162	broad.mit.edu	37	1	118539080	118539080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:118539080G>A	ENST00000336338.5	-	34	5031	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1656						cilium|flagellar axoneme|microtubule		p.R1656*(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACTGTCTCGAAGAAGTTCC	0.358000													8	43					0	0	0.004482	0	0
RTN1	6252	broad.mit.edu	37	14	60072161	60072161	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:60072161C>A	ENST00000267484.5	-	5	2372	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	RTN1_ENST00000557422.1_Intron|RTN1_ENST00000342503.4_Silent_p.L111L|RTN1_ENST00000395090.1_Silent_p.L96L	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	679	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.L679L(2)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGTAGAACTGCAGGCAGTCCG	0.473000													29	77					7.01153e-11	9.58621e-11	0.007291	1	0
MORC1	27136	broad.mit.edu	37	3	108819263	108819263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:108819263C>G	ENST00000232603.5	-	5	397		c.e5+1		MORC1_ENST00000483760.1_Splice_Site	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.?(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAAATTCTCACCTTTTAAGAC	0.353000													5	175					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179398197	179398197	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:179398197A>G	ENST00000589042.1	-	358	103369	c.103145T>C	c.(103144-103146)tTt>tCt	p.F34382S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F31814S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F32741S|TTN_ENST00000460472.2_Missense_Mutation_p.F25317S|TTN_ENST00000359218.5_Missense_Mutation_p.F25442S|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F25509S|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32741							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F25317S(2)|p.F25509S(2)|p.F31814S(2)|p.F31812S(2)|p.F25442S(2)		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)			TCTGATCTCAAAGCAGACACT	0.473000													19	35					0	0	0.008871	0	0
APBA1	320	broad.mit.edu	37	9	72082745	72082745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:72082745C>A	ENST00000265381.4	-	5	1698	c.1476G>T	c.(1474-1476)agG>agT	p.R492S	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTTGATCCTGCTTACGG	0.527000													15	141					4.72057e-08	5.97132e-08	0.003954	1	0
MAGI2	9863	broad.mit.edu	37	7	77789402	77789402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:77789402C>T	ENST00000354212.4	-	16	3038	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E929K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E915K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	929	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding	p.E929K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCGAAGCCCTCATTCTCTTTG	0.532000													7	139					0	0	0.003080	0	0
AS3MT	57412	broad.mit.edu	37	10	104638636	104638636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:104638636G>C	ENST00000369880.3	+	9	850	c.773G>C	c.(772-774)cGc>cCc	p.R258P	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	258					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	p.R258P(2)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCAACATTTCGCCTCTTCAAA	0.413000													25	95					0	0	0.003330	0	0
F5	2153	broad.mit.edu	37	1	169519136	169519136	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:169519136T>A	ENST00000367796.3	-	10	1715	c.1514A>T	c.(1513-1515)tAc>tTc	p.Y505F	F5_ENST00000367797.3_Missense_Mutation_p.Y505F|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	505	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Y505F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCACTGTAGTATGGTCTTGT	0.443000													29	136					0	0	0.007291	0	0
CA11	770	broad.mit.edu	37	19	49142169	49142169	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:49142169G>T	ENST00000084798.4	-	8	1616	c.937C>A	c.(937-939)Cga>Aga	p.R313R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	313						extracellular region		p.R313R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TTGGGGCCTCGGCAGCGCCTC	0.637000													8	18					0.000157383	0.000175463	0.003080	1	0
SIGLECL1	284369	broad.mit.edu	37	19	51768891	51768891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:51768891C>A	ENST00000316401.7	+	3	673	c.292C>A	c.(292-294)Cta>Ata	p.L98I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.L98I(2)									TTTGAGCATCCTACTGATGTC	0.537000													31	141					5.60225e-13	8.06942e-13	0.009535	1	0
OVCH2	341277	broad.mit.edu	37	11	7716867	7716867	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:7716867C>A	ENST00000454689.1	-	0	1215				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)									p.D406Y(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCTGTGGCATCAGAGACGAAT	0.448000													11	48					0.00829132	0.00887606	0.008291	1	0
C20orf194	25943	broad.mit.edu	37	20	3234371	3234371	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:3234371C>A	ENST00000252032.9	-	36	3489		c.e36+1		C20orf194_ENST00000453730.2_Splice_Site	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194									p.?(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCAAGGATACGTGGGTGAAA	0.507000													35	96					3.62531e-18	5.80049e-18	0.004289	1	0
MON2	23041	broad.mit.edu	37	12	62929426	62929426	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:62929426C>T	ENST00000393630.3	+	14	2228	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	MON2_ENST00000552115.1_Silent_p.L613L|MON2_ENST00000546600.1_Silent_p.L613L|MON2_ENST00000280379.6_Silent_p.L613L|MON2_ENST00000393632.2_Silent_p.L613L|MON2_ENST00000393629.2_Silent_p.L613L|MON2_ENST00000552738.1_Intron	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	613					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.L613L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAAGGTTCCCTGCCTCCCCA	0.408000													27	70					0	0	0.003954	0	0
TCF12	6938	broad.mit.edu	37	15	57212142	57212142	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:57212142A>T	ENST00000267811.5	+	2	335	c.31A>T	c.(31-33)Ata>Tta	p.I11L	TCF12_ENST00000452095.2_Missense_Mutation_p.I11L|TCF12_ENST00000438423.2_Missense_Mutation_p.I11L|TCF12_ENST00000333725.5_Missense_Mutation_p.I11L|TCF12_ENST00000557843.1_Missense_Mutation_p.I11L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	11					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	p.I11L(6)	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)		CATGGCCGCTATAGGGACCGA	0.547000			T	TEC	extraskeletal myxoid chondrosarcoma								21	56					0	0	0.010504	0	0
DOCK1	1793	broad.mit.edu	37	10	128830475	128830475	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:128830475G>C	ENST00000280333.6	+	18	1849	c.1740G>C	c.(1738-1740)aaG>aaC	p.K580N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	580	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.K580N(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGGAAGAAAAGGGCCACTCGG	0.557000													3	9					0	0	0.004672	0	0
TARS2	80222	broad.mit.edu	37	1	150470105	150470105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:150470105G>A	ENST00000369064.3	+	10	1154	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Missense_Mutation_p.D244N|TARS2_ENST00000606933.1_Missense_Mutation_p.D292N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	374					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.D374N(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTATCAGGAAGACATGTTTGC	0.547000													11	121					0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13820609	13820609	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:13820609C>A	ENST00000265104.4	-	41	6792		c.e41-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		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)					CTTCTTCAACCTGAAAACATA	0.507000									Kartagener syndrome				27	85					1.7881e-09	2.35235e-09	0.008361	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762209	130762209	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:130762209G>T	ENST00000392429.1	+	2	3020	c.642G>T	c.(640-642)tcG>tcT	p.S214S	TMEM200A_ENST00000296978.3_Silent_p.S214S|TMEM200A_ENST00000545622.1_Silent_p.S214S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	214						integral to membrane		p.S214S(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTCTTTCTCGGGTTTTCGGA	0.478000													14	34					6.31663e-08	7.95626e-08	0.003163	1	0
ELSPBP1	64100	broad.mit.edu	37	19	48519237	48519237	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:48519237G>T	ENST00000339841.2	+	4	474	c.296G>T	c.(295-297)tGg>tTg	p.W99L	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	99	Fibronectin type-II 2.				single fertilization	extracellular region		p.W99L(2)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGCAGTCTGTGGTGCTCAGTC	0.507000													31	91					1.62565e-12	2.29686e-12	0.002445	1	0
GALR1	2587	broad.mit.edu	37	18	74963084	74963084	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:74963084C>A	ENST00000299727.3	+	1	580	c.580C>A	c.(580-582)Cct>Act	p.P194T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTGGCCCGACCCTCGCCACAA	0.662000													27	115					6.00712e-18	9.55972e-18	0.002445	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45711253	45711253	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:45711253C>A	ENST00000310806.4	-	4	1585	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	376					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.G376V(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTTTAAGTCCATTTGTAAC	0.318000													23	69					4.16121e-05	4.71923e-05	0.002780	1	0
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	G	T	rs35379048	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:7585490G>T	ENST00000379802.3	+	24	8336	c.7995G>T	c.(7993-7995)acG>acT	p.T2665T	DSP_ENST00000418664.2_Silent_p.T2066T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2665	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.T2665T(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCCAACCACGGGCCAGAAGC	0.577000													77	102					2.40943e-26	4.15855e-26	0.003610	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72165754	72165754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:72165754C>T	ENST00000555818.1	+	11	3779	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1144F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1144F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S619F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1144					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1144F(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTAGCAAGATCCCAGTGTCGG	0.488000													44	129					0	0	0.008740	0	0
USP29	57663	broad.mit.edu	37	19	57641790	57641790	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57641790C>A	ENST00000254181.4	+	4	2201	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	USP29_ENST00000598197.1_Missense_Mutation_p.L583M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	583					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L583M(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCAATGAAGCTGACCTCAGA	0.483000													41	91					2.45108e-15	3.73018e-15	0.008740	1	0
OR10W1	81341	broad.mit.edu	37	11	58034677	58034677	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:58034677C>G	ENST00000395079.2	-	1	1055	c.654G>C	c.(652-654)aaG>aaC	p.K218N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K218N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572000													13	27					0	0	0.003163	0	0
UNK	85451	broad.mit.edu	37	17	73780814	73780814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:73780814C>A	ENST00000293218.3	+	2	81	c.81C>A	c.(79-81)gaC>gaA	p.D27E	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27E(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGCCGGACATAGAACCAC	0.642000													5	41					3.59834e-05	4.11238e-05	0.001168	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111590	142111590	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142111590G>T	ENST00000390378.1	-	0	145																											GGACACACTGGTGTGCCCAGA	0.527000													83	65					3.56499e-28	6.17098e-28	0.003610	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128842434	128842434	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:128842434G>A	ENST00000310343.9	-	21	3924	c.3925C>T	c.(3925-3927)Ccg>Tcg	p.P1309S	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P960S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P960S|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1309	Poly-Pro.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.P1309S(2)|p.P960S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGGAAGGCGGAGGGGGAAGG	0.537000													35	80					0	0	0.004289	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:77766283G>C	ENST00000521891.2	+	10	7574	c.7126G>C	c.(7126-7128)Gct>Cct	p.A2376P	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2350P|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2331P|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2331P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2331	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A2360P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAACGCTGCTGCCCC	0.512000										HNSCC(33;0.089)			46	117					0	0	0.003610	0	0
SDK2	54549	broad.mit.edu	37	17	71397871	71397871	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:71397871G>A	ENST00000392650.3	-	20	2701	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	SDK2_ENST00000388726.3_Silent_p.L901L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	901	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.L901L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGAAGCTCAGGTGTCCCACG	0.577000													5	5					0	0	0.000602	0	0
OR51F2	119694	broad.mit.edu	37	11	4842710	4842710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:4842710C>A	ENST00000322110.5	+	1	160	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P32Q(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCATTCCAGGCCTGAAA	0.473000													69	183					1.42676e-28	2.48424e-28	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179629388	179629388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:179629388C>A	ENST00000589042.1	-	42	10078	c.9854G>T	c.(9853-9855)tGc>tTc	p.C3285F	TTN_ENST00000342992.6_Missense_Mutation_p.C3285F|TTN_ENST00000591111.1_Missense_Mutation_p.C3285F|TTN_ENST00000460472.2_Missense_Mutation_p.C3239F|TTN_ENST00000359218.5_Missense_Mutation_p.C3239F|TTN_ENST00000342175.6_Missense_Mutation_p.C3239F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.C3285F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3014	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C3285F(6)|p.C3239F(6)		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)			AAGAAATTTGCACTTGAAGCC	0.493000													62	103					2.89935e-36	5.24898e-36	0.003610	1	0
TKTL2	84076	broad.mit.edu	37	4	164394019	164394019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:164394019G>T	ENST00000280605.3	-	1	1028	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm	metal ion binding|transketolase activity	p.P290T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCGATTTTGGTATGAGATTC	0.408000													114	403					1.66084e-67	3.16146e-67	0.003610	1	0
GPR25	2848	broad.mit.edu	37	1	200842857	200842857	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:200842857G>A	ENST00000304244.2	+	1	775	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	231						integral to plasma membrane		p.R231Q(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CGCCTGCGACGGCCGCCGCAC	0.687000													4	92					0	0	0.000602	0	0
FRAS1	80144	broad.mit.edu	37	4	79402985	79402985	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:79402985A>G	ENST00000264895.6	+	57	8911	c.8471A>G	c.(8470-8472)cAt>cGt	p.H2824R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2819	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.H2824R(2)|p.H2825R(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTATCCGCCATGGTACTGAC	0.478000													163	254					0	0	0.003610	0	0
GRK5	2869	broad.mit.edu	37	10	121140407	121140407	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:121140407C>A	ENST00000392870.2	+	3	558	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	77	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.L77M(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGGCCTGGGCTGGAGTGTTA	0.498000													45	128					7.88023e-25	1.34055e-24	0.003610	1	0
C15orf26	161502	broad.mit.edu	37	15	81436103	81436103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:81436103G>T	ENST00000286732.4	+	5	661	c.578G>T	c.(577-579)tGg>tTg	p.W193L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	193								p.W193L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAACTGCTGGCAGGCTGCC	0.537000													82	194					1.7488e-33	3.12776e-33	0.003610	1	0
MYO15A	51168	broad.mit.edu	37	17	18023924	18023924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:18023924G>A	ENST00000205890.5	+	2	2148	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	604	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E604K(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGTCAGGGAGGCGGCCTA	0.697000													4	4					0	0	0.001168	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008704	88008704	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:88008704C>G	ENST00000276127.4	+	3	548	c.289C>G	c.(289-291)Ccc>Gcc	p.P97A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P97A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	97						intracellular	zinc ion binding	p.P97A(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GACCCCCATTCCCAGAAAATT	0.413000													8	13					0	0	0.003080	0	0
SENP2	59343	broad.mit.edu	37	3	185341817	185341817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:185341817A>T	ENST00000296257.5	+	15	1798	c.1558A>T	c.(1558-1560)Aga>Tga	p.R520*	SENP2_ENST00000427465.2_Nonsense_Mutation_p.R344*|SENP2_ENST00000545472.1_Nonsense_Mutation_p.R510*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	520	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	p.R520*(2)|p.K520*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAAGACCAAAAGAAATAGTGA	0.343000													39	116					0	0	0.008740	0	0
GP5	2814	broad.mit.edu	37	3	194118069	194118069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:194118069G>A	ENST00000401815.1	-	1	1014	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	GP5_ENST00000323007.3_Missense_Mutation_p.R315C			P40197	GPV_HUMAN	glycoprotein V (platelet)	315					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.R315C(4)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCGCAGGCGGCTCAGGTTG	0.726000													6	15					0	0	0.001168	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799011	140799011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140799011G>T	ENST00000398594.2	+	1	1585	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1												p.E529*(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACCTTCGAGCTCACGCT	0.697000													53	57					1.63038e-21	2.68106e-21	0.003610	1	0
ITM2B	9445	broad.mit.edu	37	13	48835306	48835306	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:48835306C>T	ENST00000378565.5	+	6	950	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ITM2B_ENST00000378549.5_Silent_p.F143F	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	249					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.F249F(2)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GCAATTGTTTCGCAATTCGGC	0.284000													4	41					0	0	0.009096	0	0
CDHR2	54825	broad.mit.edu	37	5	176011426	176011426	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:176011426T>A	ENST00000510636.1	+	19	2418	c.2144T>A	c.(2143-2145)gTg>gAg	p.V715E	CDHR2_ENST00000261944.5_Missense_Mutation_p.V715E|CDHR2_ENST00000506348.1_Missense_Mutation_p.V715E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	715	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V715E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTAGTGGGCGTGGTGAAGGCC	0.617000													32	228					0	0	0.009535	0	0
OCA2	4948	broad.mit.edu	37	15	28230275	28230275	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:28230275C>A	ENST00000354638.3	-	13	1454	c.1299G>T	c.(1297-1299)gcG>gcT	p.A433A	OCA2_ENST00000353809.5_Silent_p.A409A|OCA2_ENST00000382996.2_Silent_p.A433A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.A433A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGGACGGCCGCGATGAGAC	0.602000									Oculocutaneous Albinism				22	34					8.10497e-08	1.01656e-07	0.010504	1	0
KIF21A	55605	broad.mit.edu	37	12	39761735	39761735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:39761735C>A	ENST00000395670.3	-	4	969	c.550G>T	c.(550-552)Gga>Tga	p.G184*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.G184*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.G184*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	184	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G184*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTATAAATTCCTCCAGTTGAA	0.308000													21	46					7.16444e-05	8.09418e-05	0.003954	1	0
KIAA1432	57589	broad.mit.edu	37	9	5762559	5762559	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:5762559A>G	ENST00000414202.2	+	18	2202	c.2011A>G	c.(2011-2013)Att>Gtt	p.I671V	KIAA1432_ENST00000418622.3_Missense_Mutation_p.I592V|KIAA1432_ENST00000449720.2_Missense_Mutation_p.I555V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.I671V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.I592V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	671						integral to membrane		p.I592V(2)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCAGAGAGCATTATGTTAAA	0.458000													36	103					0	0	0.004878	0	0
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:247607348C>A	ENST00000366497.2	+	7	3353	c.2573C>A	c.(2572-2574)aCg>aAg	p.T858K	NLRP3_ENST00000348069.2_Missense_Mutation_p.T801K|NLRP3_ENST00000366496.2_Missense_Mutation_p.T858K|NLRP3_ENST00000336119.3_Missense_Mutation_p.T915K|NLRP3_ENST00000391827.2_Missense_Mutation_p.T858K|NLRP3_ENST00000391828.3_Missense_Mutation_p.T915K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	915					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T915K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAATCTCACGCACCTTTAC	0.512000													43	75					4.17593e-13	6.02964e-13	0.007835	1	0
GPR125	166647	broad.mit.edu	37	4	22390178	22390178	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:22390178C>A	ENST00000334304.5	-	19	3385	c.3116G>T	c.(3115-3117)aGt>aTt	p.S1039I	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1039					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.S1039I(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAAGAACGCACTGAAGCTTAA	0.463000													53	77					5.73376e-24	9.67061e-24	0.003610	1	0
TRPM3	80036	broad.mit.edu	37	9	73399169	73399169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:73399169C>A	ENST00000377110.2	-	7	1243	c.1000G>T	c.(1000-1002)Gca>Tca	p.A334S	TRPM3_ENST00000423814.3_Missense_Mutation_p.A361S|TRPM3_ENST00000377105.1_Missense_Mutation_p.A181S|TRPM3_ENST00000408909.2_Missense_Mutation_p.A181S|TRPM3_ENST00000377106.1_Missense_Mutation_p.A206S|TRPM3_ENST00000396280.5_Missense_Mutation_p.A181S|TRPM3_ENST00000377101.1_Missense_Mutation_p.A181S|TRPM3_ENST00000377111.2_Missense_Mutation_p.A334S|TRPM3_ENST00000396283.1_Missense_Mutation_p.A206S|TRPM3_ENST00000396285.1_Missense_Mutation_p.A181S|TRPM3_ENST00000360823.2_Missense_Mutation_p.A206S|TRPM3_ENST00000396292.4_Missense_Mutation_p.A206S|TRPM3_ENST00000361823.5_Missense_Mutation_p.A181S|TRPM3_ENST00000357533.2_Missense_Mutation_p.A336S|TRPM3_ENST00000358082.3_Missense_Mutation_p.A206S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	359						integral to membrane	calcium channel activity	p.A206S(2)|p.A334S(2)|p.A336S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTATGAGTGCCACCACAGGA	0.458000													10	30					0.000978159	0.00107037	0.000978	1	0
THBS4	7060	broad.mit.edu	37	5	79373964	79373964	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:79373964C>G	ENST00000350881.2	+	17	2369	c.2179C>G	c.(2179-2181)Ctg>Gtg	p.L727V	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L636V|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	727					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.L727V(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGGTCACCCTGACCGACTT	0.587000													5	51					0	0	0.000602	0	0
CTNNB1	1499	broad.mit.edu	37	3	41274850	41274850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:41274850G>T	ENST00000349496.5	+	8	1380	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.G367V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G367V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G367V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G360V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	367					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G367V(2)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAAGCTTTAGGACTTCACCTG	0.393000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				19	62					3.99206e-14	5.89351e-14	0.007413	1	0
OR8J1	219477	broad.mit.edu	37	11	56128508	56128508	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56128508C>A	ENST00000303039.3	+	1	818	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262P(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGTGCAGCCCCGAAGTAACC	0.408000													24	84					1.13719e-10	1.54408e-10	0.008361	1	0
EPCAM	4072	broad.mit.edu	37	2	47607038	47607038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:47607038G>T	ENST00000263735.4	+	7	1146	c.788G>T	c.(787-789)gGt>gTt	p.G263V	EPCAM_ENST00000405271.1_Missense_Mutation_p.G291V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	263					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.G263V(2)|p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCAATGCAGGGTCTAAAAgct	0.378000													21	64					6.33239e-15	9.53886e-15	0.010504	1	0
CSMD1	64478	broad.mit.edu	37	8	3432521	3432521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:3432521C>A	ENST00000520002.1	-	11	1848	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q431H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	431	CUB 3.					integral to membrane		p.Q430H(2)|p.Q159H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTTCATACTGAACCGGAT	0.517000													18	61					3.32936e-07	4.09767e-07	0.006122	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128052	3128052	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:3128052T>A	ENST00000380266.3	-	2	1986	c.1665A>T	c.(1663-1665)tcA>tcT	p.S555S	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	555					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.S555S(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATTCAGGCTTTGAATTCATAT	0.458000													33	99					0	0	0.002096	0	0
MIR516B1	574490	broad.mit.edu	37	19	54240116	54240116	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:54240116C>T	ENST00000385211.1	+	0	18					NR_030212.1																						CTGTGACCATCTGGAGGTAAG	0.398000													43	137					0	0	0.003610	0	0
MYO1B	4430	broad.mit.edu	37	2	192257838	192257838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:192257838G>T	ENST00000392318.3	+	20	2363	c.2116G>T	c.(2116-2118)Gac>Tac	p.D706Y	MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000339514.4_Missense_Mutation_p.D706Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D706Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.D706Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	706	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D706Y(4)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACGCCTGGAGGACTTGGCCAC	0.428000													7	70					2.0095e-06	2.40328e-06	0.001984	1	0
HTR5A	3361	broad.mit.edu	37	7	154862701	154862701	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:154862701C>G	ENST00000287907.2	+	1	668	c.92C>G	c.(91-93)cCc>cGc	p.P31R	AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	31						integral to plasma membrane	serotonin receptor activity	p.P31R(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GACCTGCGCCCCAGCTCGCCC	0.612000													32	112					0	0	0.005524	0	0
PROSER2	254427	broad.mit.edu	37	10	11908754	11908754	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:11908754G>A	ENST00000277570.5	+	3	517	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000474155.1_3'UTR	NM_153256.3	NP_694988.3			proline and serine-rich protein 2									p.E121E(2)									GGGAAGCCGAGGGCCTTCCAG	0.622000													29	62					0	0	0.008740	0	0
PRSS1	5644	broad.mit.edu	37	7	142459828	142459828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142459828C>A	ENST00000486171.1	+	4	463	c.446C>A	c.(445-447)aCt>aAt	p.T149N	PRSS1_ENST00000311737.7_Missense_Mutation_p.T135N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	135	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T135N(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCCAGCCACTGGCACGAAG	0.557000													45	26					1.38705e-31	2.4366e-31	0.003610	1	0
PLCB1	23236	broad.mit.edu	37	20	8862495	8862495	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:8862495G>C	ENST00000338037.6	+	32	3677	c.3650G>C	c.(3649-3651)tGa>tCa	p.*1217S	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.*1217S(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTCCTCTGTGAATGCTCCTG	0.522000													17	56					0	0	0.004007	0	0
FAM198B	51313	broad.mit.edu	37	4	159052134	159052134	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:159052134C>G	ENST00000296530.8	-	4	1777	c.1156G>C	c.(1156-1158)Gga>Cga	p.G386R	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Missense_Mutation_p.G386R|FAM198B_ENST00000393807.5_Missense_Mutation_p.G394R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	386						Golgi membrane|integral to membrane		p.G386R(2)|p.G394R(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGTCTGAATCCACAGCAATTT	0.398000													11	52					0	0	0.001368	0	0
ZNF264	9422	broad.mit.edu	37	19	57705360	57705360	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57705360G>A	ENST00000263095.6	+	2	565	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ZNF264_ENST00000536056.1_Missense_Mutation_p.V51M|ZNF264_ENST00000600531.1_Missense_Mutation_p.V51M|ZNF264_ENST00000599653.1_Missense_Mutation_p.V51M	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V51M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGGGCTCCTGGTGTCTCTGGG	0.587000													28	99					0	0	0.006320	0	0
DCC	1630	broad.mit.edu	37	18	50923679	50923679	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:50923679C>A	ENST00000442544.2	+	18	3306	c.2688_splice	c.e18-1	p.S897_splice	DCC_ENST00000412726.1_Splice_Site_p.S725_splice|DCC_ENST00000581580.1_Splice_Site_p.S532_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	897	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S897*(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTGTATAGTCAGAAGACACA	0.328000													10	28					1.58986e-06	1.92082e-06	0.008291	1	0
TOX2	84969	broad.mit.edu	37	20	42695474	42695474	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:42695474G>T	ENST00000358131.5	+	7	1615	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	TOX2_ENST00000423191.1_Silent_p.G445G|TOX2_ENST00000435864.2_Silent_p.G365G|TOX2_ENST00000372999.1_Silent_p.G445G|TOX2_ENST00000341197.3_Silent_p.G487G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G496G(2)|p.G445G(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCAGTGGGGAGTGTGGCA	0.642000													61	145					1.48005e-37	2.6877e-37	0.003610	1	0
COL11A1	1301	broad.mit.edu	37	1	103488398	103488398	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:103488398T>C	ENST00000358392.2	-	8	1498	c.1181A>G	c.(1180-1182)gAt>gGt	p.D394G	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.D343G|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				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	p.D382G(2)|p.D394G(2)		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)		TTCATAAAAATCATATTCGCC	0.368000													24	81					0	0	0.002780	0	0
DOCK2	1794	broad.mit.edu	37	5	169508848	169508848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:169508848C>A	ENST00000256935.8	+	51	5370	c.5290C>A	c.(5290-5292)Ctg>Atg	p.L1764M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.L1764M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCAGCCCTGGCGCTCTC	0.632000													7	58					0.00185496	0.00201863	0.001855	1	0
SCNN1D	6339	broad.mit.edu	37	1	1221528	1221528	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:1221528G>A	ENST00000338555.2	+	4	1433	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	SCNN1D_ENST00000400928.3_Missense_Mutation_p.V97I|SCNN1D_ENST00000379116.5_Missense_Mutation_p.V261I|SCNN1D_ENST00000325425.8_Missense_Mutation_p.V163I					sodium channel, non-voltage-gated 1, delta subunit									p.V261I(2)|p.V97I(2)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGAGCCCTGGTCGCGCTCTG	0.692000													9	9					0	0	0.006214	0	0
OR5M10	390167	broad.mit.edu	37	11	56344907	56344907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56344907G>T	ENST00000526812.2	-	1	356	c.291C>A	c.(289-291)tgC>tgA	p.C97*		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97*(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTGTGTGAAGCATCCAGCGT	0.443000													24	69					1.64293e-13	2.39561e-13	0.003330	1	0
USP28	57646	broad.mit.edu	37	11	113699991	113699991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:113699991A>T	ENST00000003302.4	-	10	1055	c.987T>A	c.(985-987)tgT>tgA	p.C329*	USP28_ENST00000545540.1_Nonsense_Mutation_p.C204*|USP28_ENST00000544967.1_Nonsense_Mutation_p.C37*|USP28_ENST00000260188.5_Nonsense_Mutation_p.C329*|USP28_ENST00000537706.1_Nonsense_Mutation_p.C329*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	329					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.C329*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCCTTCCAAACACTCGTCTA	0.468000													18	41					0	0	0.006122	0	0
GATM	2628	broad.mit.edu	37	15	45654417	45654417	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:45654417T>C	ENST00000396659.3	-	9	1501	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	388					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	p.I388V(2)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATGGTAGTGATACCTGCATTG	0.478000													8	19					0	0	0.003080	0	0
TNR	7143	broad.mit.edu	37	1	175365895	175365895	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:175365895A>T	ENST00000367674.1	-	5	1733	c.1025T>A	c.(1024-1026)aTt>aAt	p.I342N	TNR_ENST00000263525.2_Missense_Mutation_p.I342N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	342	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I342N(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTCCAGCTCAATGGACCTGTC	0.607000													20	145					0	0	0.010504	0	0
C1orf65	164127	broad.mit.edu	37	1	223567913	223567913	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:223567913G>T	ENST00000366875.3	+	1	1199	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	366								p.A366S(2)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAAGGCGCGCGCCCAGGCAGA	0.672000													23	17					1.28384e-07	1.59336e-07	0.001882	1	0
OR13C4	138804	broad.mit.edu	37	9	107288801	107288801	+	Silent	SNP	C	C	T	rs146391633		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:107288801C>T	ENST00000277216.3	-	1	689	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTCCTGTGGCCGAGTTCGTTC	0.413000													33	101					0	0	0.006230	0	0
MKS1	54903	broad.mit.edu	37	17	56294052	56294052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:56294052C>A	ENST00000393119.2	-	3	310	c.236G>T	c.(235-237)gGg>gTg	p.G79V	MKS1_ENST00000537529.2_Missense_Mutation_p.G69V|MKS1_ENST00000313863.6_Missense_Mutation_p.G79V|MKS1_ENST00000337050.7_Missense_Mutation_p.G79V|MKS1_ENST00000546108.1_5'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	79					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.G79V(4)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCTGCCACCCAATCACAAT	0.502000													7	41					0.000274275	0.000304065	0.004482	1	0
CACNA1E	777	broad.mit.edu	37	1	181686252	181686252	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:181686252A>T	ENST00000526775.1	+	11	1504	c.1339A>T	c.(1339-1341)Atc>Ttc	p.I447F	CACNA1E_ENST00000360108.3_Missense_Mutation_p.I447F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I447F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I54F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I447F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	447					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I447F(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGCCAGTATCAAAAGTGC	0.512000													27	139					0	0	0.002096	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093072	30093072	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:30093072G>T	ENST00000567636.1	+	0	1447					NR_003558.1																						ACCTCCAGGAGCTCCTCCTGA	0.572000													10	18					7.48243e-07	9.17101e-07	0.006214	1	0
USP31	57478	broad.mit.edu	37	16	23093759	23093759	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:23093759C>A	ENST00000219689.7	-	12	1949	c.1950_splice	c.e12+1	p.Q650_splice		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	650					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q650H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATTTCCATACCTGCCGAAATC	0.468000													24	111					4.59853e-10	6.11759e-10	0.005443	1	0
LRRC37BP1	147172	broad.mit.edu	37	17	28958781	28958781	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:28958781G>A	ENST00000412831.1	+	0	9				SMURF2P1_ENST00000578265.1_RNA																							AGCTGAAGAAGCATCTGTAGG	0.463000													35	129					0	0	0.005524	0	0
PDS5A	23244	broad.mit.edu	37	4	39904046	39904046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:39904046C>T	ENST00000303538.8	-	13	1959	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PDS5A_ENST00000503396.1_Missense_Mutation_p.V474I	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	474					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.V474I(4)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGTGGGGGACAAGATACTGA	0.318000													8	68					0	0	0.004482	0	0
SIT1	27240	broad.mit.edu	37	9	35650214	35650214	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:35650214G>T	ENST00000259608.3	-	4	410	c.324C>A	c.(322-324)gaC>gaA	p.D108E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	108					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	p.D108E(2)		endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATCCTGCTGGTCTGGCTCTG	0.617000													21	80					2.21704e-12	3.12496e-12	0.002780	1	0
NPAP1	23742	broad.mit.edu	37	15	24921921	24921921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:24921921C>A	ENST00000329468.2	+	1	1381	c.907C>A	c.(907-909)Cct>Act	p.P303T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P303T(2)									AAAGAGGATGCCTGATGAGAA	0.572000													25	77					1.64293e-13	2.39561e-13	0.003330	1	0
SGIP1	84251	broad.mit.edu	37	1	67155929	67155929	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:67155929A>T	ENST00000371037.4	+	17	1577	c.1500A>T	c.(1498-1500)ttA>ttT	p.L500F	SGIP1_ENST00000371035.3_Missense_Mutation_p.L290F|SGIP1_ENST00000371036.3_Missense_Mutation_p.L300F|SGIP1_ENST00000371039.1_Missense_Mutation_p.L301F|SGIP1_ENST00000237247.6_Missense_Mutation_p.L531F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	500					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.L301F(2)|p.L500F(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGCACCCTTAGCGCGGGCTG	0.463000													69	170					0	0	0.003610	0	0
EPC1	80314	broad.mit.edu	37	10	32573907	32573907	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:32573907G>A	ENST00000319778.6	-	10	1765	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	EPC1_ENST00000375110.2_Missense_Mutation_p.S438L|EPC1_ENST00000263062.8_Missense_Mutation_p.S488L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	488					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.S488L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATGTTGTGGTGAGGAAAGCAT	0.388000													30	108					0	0	0.007291	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713801	138713801	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:138713801C>A	ENST00000389532.4	-	11	2770	c.2706G>T	c.(2704-2706)ctG>ctT	p.L902L	CAMSAP1_ENST00000409386.3_Silent_p.L913L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.L624L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	902						cytoplasm|microtubule		p.L902L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCTTGCCGACAGCGCCTCCA	0.637000													49	119					2.47907e-22	4.12249e-22	0.003610	1	0
EP400NL	347918	broad.mit.edu	37	12	132610920	132610920	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:132610920G>T	ENST00000475841.1	+	7	1826		c.e7-1							EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						TCATATTTCAGTTGCAAAAGA	0.358000													6	7					0.00116845	0.00127389	0.001168	1	0
CHD9	80205	broad.mit.edu	37	16	53358160	53358160	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:53358160C>G	ENST00000566029.1	+	39	8208	c.7999C>G	c.(7999-8001)Cag>Gag	p.Q2667E	CHD9_ENST00000447540.1_Missense_Mutation_p.Q2668E|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2667E|CHD9_ENST00000398510.3_Missense_Mutation_p.Q2683E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2683					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.Q2684E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAAAACTTGCAGTCACTGCA	0.488000													3	72					0	0	0.004672	0	0
KCNU1	157855	broad.mit.edu	37	8	36694374	36694374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:36694374G>T	ENST00000399881.3	+	14	1466	c.1429G>T	c.(1429-1431)Gaa>Taa	p.E477*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	477	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.E477*(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGCTTTGCTGAATTAAAACT	0.433000													35	111					8.4185e-14	1.23974e-13	0.002445	1	0
AK8	158067	broad.mit.edu	37	9	135602879	135602879	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:135602879C>T	ENST00000298545.3	-	12	1685	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	388	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.R388R(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCAGAGTCAGCCGCTCCATGA	0.448000													4	161					0	0	0.009096	0	0
RPL3L	6123	broad.mit.edu	37	16	2002992	2002992	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:2002992G>T	ENST00000268661.7	-	3	342	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	83					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.P83H(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCACTAGGGGCGGCGTTTC	0.607000													18	71					0.00047179	0.000522055	0.003330	1	0
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	G	A	rs143761751		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:482774G>A	ENST00000264938.3	-	7	1254	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612000													7	62					0	0	0.001984	0	0
ROBO2	6092	broad.mit.edu	37	3	77623840	77623840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:77623840G>T	ENST00000461745.1	+	14	3062	c.2162G>T	c.(2161-2163)gGa>gTa	p.G721V	ROBO2_ENST00000487694.3_Missense_Mutation_p.G737V|ROBO2_ENST00000332191.8_Missense_Mutation_p.G721V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	721	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G737V(2)|p.G721V(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAGTTCCAAGGAATGGATAGT	0.373000													9	26					1.12685e-05	1.30803e-05	0.004482	1	0
LILRA1	11024	broad.mit.edu	37	19	55107393	55107393	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:55107393G>C	ENST00000251372.3	+	6	1133	c.951G>C	c.(949-951)ctG>ctC	p.L317L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	317					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L317L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGACATCCTGATCGCAGGTG	0.682000													20	68					0	0	0.003330	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461293	5461293	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:5461293G>T	ENST00000296564.7	+	13	2068	c.1846G>T	c.(1846-1848)Ggt>Tgt	p.G616C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	616								p.G616C(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATGACTCAGGTGATGGAAT	0.418000													44	130					1.03325e-14	1.55249e-14	0.002852	1	0
CPT2	1376	broad.mit.edu	37	1	53676835	53676835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:53676835G>T	ENST00000371486.3	+	4	2004	c.1489G>T	c.(1489-1491)Ggc>Tgc	p.G497C	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	497					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	p.G497C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTCAAGCACGGCCGCACTGA	0.617000													9	33					3.07112e-06	3.62895e-06	0.000978	1	0
ANK1	286	broad.mit.edu	37	8	41553923	41553923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:41553923C>A	ENST00000396942.1	-	26	3001	c.2918G>T	c.(2917-2919)aGc>aTc	p.S973I	ANK1_ENST00000347528.4_Missense_Mutation_p.S973I|ANK1_ENST00000289734.7_Missense_Mutation_p.S973I|ANK1_ENST00000352337.4_Missense_Mutation_p.S973I|ANK1_ENST00000396945.1_Missense_Mutation_p.S973I|ANK1_ENST00000379758.2_Missense_Mutation_p.S973I|ANK1_ENST00000265709.8_Missense_Mutation_p.S1014I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	973	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S1014I(2)|p.S973I(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TATGATCCTGCTGGCCAGGCC	0.716000													31	61					1.22384e-17	1.93719e-17	0.002836	1	0
HERC1	8925	broad.mit.edu	37	15	64067496	64067496	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:64067496T>A	ENST00000443617.2	-	2	414	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	109					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.V109V(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACGCTGGAGTACAAGCAGTC	0.473000													33	75					0	0	0.002445	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:160237602C>A	ENST00000275275.5	+	14	1226	c.1055C>A	c.(1054-1056)gCg>gAg	p.A352E	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363E	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468000													77	136					7.83748e-43	1.45448e-42	0.003610	1	0
UPP2	151531	broad.mit.edu	37	2	158980311	158980311	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:158980311T>A	ENST00000605860.1	+	9	932	c.886T>A	c.(886-888)Tta>Ata	p.L296I	UPP2_ENST00000005756.4_Missense_Mutation_p.L239I|UPP2_ENST00000409859.4_Missense_Mutation_p.L296I|UPP2_ENST00000460456.1_3'UTR			O95045	UPP2_HUMAN	uridine phosphorylase 2	239					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.L239I(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGAAAAAAAGTTAGACTACTT	0.453000													40	82					0	0	0.005524	0	0
PCF11	51585	broad.mit.edu	37	11	82879556	82879556	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:82879556G>C	ENST00000298281.4	+	8	2631	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	727	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.D826H(2)|p.D727H(2)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACCATTTGTAGATAGTCCAGC	0.428000													24	43					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9012894	9012894	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:9012894A>T	ENST00000397910.4	-	34	38753	c.38550T>A	c.(38548-38550)gcT>gcA	p.A12850A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12852				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A2A(1)|p.A12850A(1)		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						GGAGAGGGCCAGCAGCTGTAG	0.463000													9	263					0	0	0.006214	0	0
RSRC2	65117	broad.mit.edu	37	12	122990164	122990164	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:122990164A>G	ENST00000331738.7	-	10	1360	c.1215T>C	c.(1213-1215)gcT>gcC	p.A405A	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Silent_p.A357A	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	405								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTTCATACTGAGCATCTAAAT	0.398000													43	97					0	0	0.002852	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931156	94931156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:94931156G>A	ENST00000337425.5	-	4	1066	c.992C>T	c.(991-993)tCt>tTt	p.S331F	SERPINA9_ENST00000424550.2_Missense_Mutation_p.S182F|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S231F|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S233F|SERPINA9_ENST00000546329.1_Missense_Mutation_p.S295F|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S313F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	313					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.S331F(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTAGGAGGCAGAAATGGAAAA	0.463000													33	82					0	0	0.003271	0	0
MYRF	745	broad.mit.edu	37	11	61522909	61522909	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:61522909C>A	ENST00000265460.5	+	1	49	c.14C>A	c.(13-15)cCa>cAa	p.P5Q	MYRF_ENST00000278836.5_Intron|RP11-467L20.10_ENST00000536405.1_lincRNA	NM_013279.2	NP_037411.1			myelin regulatory factor									p.P5Q(2)									CACTGGCTTCCAGCAGGTAAC	0.647000													11	29					3.07112e-06	3.62895e-06	0.000978	1	0
NDUFS1	4719	broad.mit.edu	37	2	207003266	207003266	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:207003266C>A	ENST00000233190.5	-	13	1601	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L	NDUFS1_ENST00000432169.1_Silent_p.L334L|NDUFS1_ENST00000440274.1_Silent_p.L409L|NDUFS1_ENST00000449699.1_Silent_p.L445L|NDUFS1_ENST00000423725.1_Silent_p.L388L|NDUFS1_ENST00000457011.1_Silent_p.L329L|NDUFS1_ENST00000455934.2_Silent_p.L459L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	445					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.L445L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GGGAGTCTCCCAGGTGGTCAT	0.408000													18	110					8.00594e-06	9.4038e-06	0.007413	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													7	46					0	0	0.003080	0	0
LVRN	206338	broad.mit.edu	37	5	115339077	115339077	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:115339077G>T	ENST00000357872.4	+	12	2161	c.2037_splice	c.e12+1	p.K679_splice	AQPEP_ENST00000395528.2_Splice_Site_p.K196_splice	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		679					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.K679N(2)									AGGATCCTAAGGTAAGGTTAC	0.294000													9	93					0.000274275	0.000304065	0.004482	1	0
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:48318349G>T	ENST00000435803.1	+	18	7582	c.7558G>T	c.(7558-7560)Gac>Tac	p.D2520Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2520					transport	integral to membrane	ATP binding|ATPase activity	p.D2465Y(2)|p.D2520Y(2)		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						CACATCAATGGACTCCATTGT	0.428000													108	147					1.13638e-54	2.14932e-54	0.003610	1	0
AC005609.1	0	broad.mit.edu	37	5	140242852	140242852	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140242852C>A	ENST00000502505.1	-	1	372	c.124G>T	c.(124-126)Gct>Tct	p.A42S	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron																							CGGGAGGCAGCGCTGGTGGAT	0.652000													11	60					3.07112e-06	3.62895e-06	0.000978	1	0
MUC16	94025	broad.mit.edu	37	19	9065905	9065905	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:9065905T>A	ENST00000397910.4	-	3	21744	c.21541A>T	c.(21541-21543)Aca>Tca	p.T7181S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7183	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7181S(4)|p.T2814S(2)		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						GACGCTGCTGTGTTTGTGGAA	0.493000													49	167					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330609	25330609	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:25330609G>T	ENST00000546682.1	+	0	453				SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CGTCATCCTCGTCGAACTGAG	0.468000													77	186					7.28744e-38	1.33153e-37	0.003610	1	0
UNC5D	137970	broad.mit.edu	37	8	35606200	35606200	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:35606200A>C	ENST00000287272.2	+	11	1735	c.1715A>C	c.(1714-1716)cAg>cCg	p.Q572P	UNC5D_ENST00000416672.1_Missense_Mutation_p.Q646P|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q636P|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q574P|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q217P|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q641P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	641	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.Q636P(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGACACAGCAGGGCAAATGG	0.438000													29	85					0	0	0.002096	0	0
UNK	85451	broad.mit.edu	37	17	73780812	73780812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:73780812G>A	ENST00000293218.3	+	2	79	c.79G>A	c.(79-81)Gac>Aac	p.D27N	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27N(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTCCAGCCGGACATAGAACC	0.647000													5	41					0	0	0.001984	0	0
OR4C46	119749	broad.mit.edu	37	11	51515976	51515976	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:51515976A>T	ENST00000328188.1	+	1	695	c.695A>T	c.(694-696)cAc>cTc	p.H232L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H232L(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGGCAAGGCACAAAGCCCTC	0.483000													30	56					0	0	0.002096	0	0
LYZL6	57151	broad.mit.edu	37	17	34264778	34264778	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:34264778G>A	ENST00000585556.1	-	3	616	c.282C>T	c.(280-282)tgC>tgT	p.C94C	LYZL6_ENST00000293274.4_Silent_p.C94C|LYZL6_ENST00000394523.3_Silent_p.C94C			O75951	LYZL6_HUMAN	lysozyme-like 6	94					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.C94C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCTACGTGGCAAAGGTTTT	0.512000													4	109					0	0	0.009096	0	0
PCSK5	5125	broad.mit.edu	37	9	78937970	78937970	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:78937970T>G	ENST00000545128.1	+	31	4562	c.4024T>G	c.(4024-4026)Tgc>Ggc	p.C1342G		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	756					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.C1342G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTTCCCAGAGTGCACGCCTGA	0.547000													4	14					0	0	0.009096	0	0
EPHA3	2042	broad.mit.edu	37	3	89391035	89391035	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:89391035G>T	ENST00000336596.2	+	5	1326	c.1101G>T	c.(1099-1101)ggG>ggT	p.G367G	EPHA3_ENST00000452448.2_Silent_p.G367G|EPHA3_ENST00000494014.1_Silent_p.G367G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	367	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.G367G(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAATGTGGGTGGAATATAA	0.488000										TSP Lung(6;0.00050)			18	81					1.55795e-14	2.31735e-14	0.001882	1	0
IVL	3713	broad.mit.edu	37	1	152882470	152882470	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152882470C>T	ENST00000368764.3	+	2	261	c.197C>T	c.(196-198)gCt>gTt	p.A66V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	66					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.A66V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACATGACTGCTGTAAAGGGA	0.542000													66	89					0	0	0.003610	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726451	25726451	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:25726451G>C	ENST00000297012.3	-	1	339	c.305C>G	c.(304-306)aCc>aGc	p.T102S		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	102					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T102S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGGGCAATGGTCACGCCGCC	0.512000													4	285					0	0	0.001168	0	0
LPPR3	79948	broad.mit.edu	37	19	814479	814479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:814479G>T	ENST00000359894.2	-	6	933	c.870C>A	c.(868-870)gaC>gaA	p.D290E	LPPR3_ENST00000520876.3_Missense_Mutation_p.D262E	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		262						integral to membrane	phosphatidate phosphatase activity	p.D290E(2)									CGGCATACACGTCCACAGGGT	0.657000													10	28					1.08611e-07	1.35649e-07	0.000978	1	0
CPXM2	119587	broad.mit.edu	37	10	125521438	125521438	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:125521438T>A	ENST00000241305.3	-	11	1881	c.1727A>T	c.(1726-1728)cAg>cTg	p.Q576L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	576					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q576L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCCTCCTTCTGGAAGTCCTC	0.667000													19	38					0	0	0.006122	0	0
OR5F1	338674	broad.mit.edu	37	11	55761670	55761670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:55761670C>A	ENST00000278409.1	-	1	431	c.432G>T	c.(430-432)atG>atT	p.M144I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCGGCTGCCATTTTTAGGT	0.498000													18	31					6.49762e-13	9.33639e-13	0.006122	1	0
UNC5A	90249	broad.mit.edu	37	5	176306803	176306803	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:176306803C>T	ENST00000329542.4	+	15	2719	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G	UNC5A_ENST00000261961.3_Silent_p.G775G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	815	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.G815G(2)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCAACGGCAACCTCAGCC	0.672000													8	73					0	0	0.003080	0	0
PTPRH	5794	broad.mit.edu	37	19	55693445	55693445	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:55693445A>T	ENST00000376350.3	-	19	3159	c.3137T>A	c.(3136-3138)cTt>cAt	p.L1046H	PTPRH_ENST00000263434.5_Missense_Mutation_p.L868H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1046	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1046H(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAAGGGCCCAAGGAGACCCTC	0.607000													63	181					0	0	0.003610	0	0
ESPNL	339768	broad.mit.edu	37	2	239040032	239040032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:239040032G>T	ENST00000343063.3	+	9	2940	c.2677G>T	c.(2677-2679)Ggc>Tgc	p.G893C	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.G525C|ESPNL_ENST00000409169.1_Missense_Mutation_p.G849C	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	893								p.G893C(2)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGCACCCACGGCTGGGAGGC	0.697000													10	8					3.07112e-06	3.62895e-06	0.000978	1	0
NFASC	23114	broad.mit.edu	37	1	204970313	204970313	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:204970313C>A	ENST00000367172.4	+	28	3684	c.3356C>A	c.(3355-3357)tCc>tAc	p.S1119Y	NFASC_ENST00000360049.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.S1012Y|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.S1040Y|NFASC_ENST00000401399.1_Missense_Mutation_p.S1012Y|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.S1104Y			O94856	NFASC_HUMAN	neurofascin	1119	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S1012Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATGAGCAGTCCATATGGAAC	0.527000													10	32					1.33987e-11	1.85762e-11	0.008291	1	0
OR8B4	283162	broad.mit.edu	37	11	124294273	124294273	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:124294273C>A	ENST00000356130.3	-	1	516	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165L(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGAAGGTCAGTCGCAGCA	0.532000													14	19					2.31682e-05	2.66322e-05	0.003163	1	0
ATP1A2	477	broad.mit.edu	37	1	160104960	160104960	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:160104960G>A	ENST00000361216.3	+	15	2079	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G664S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	664					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.G664S(2)		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)			CGTGGTGCACGGCTCTGACCT	0.597000													22	104					0	0	0.002299	0	0
UBA6	55236	broad.mit.edu	37	4	68534382	68534382	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:68534382C>T	ENST00000322244.4	-	9	739	c.680G>A	c.(679-681)gGc>gAc	p.G227D	UBA6_ENST00000420827.2_Missense_Mutation_p.G227D	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	227					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.G227D(2)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGTAACAATGCCAGGATTTGC	0.303000													4	23					0	0	0.009096	0	0
MYH1	4619	broad.mit.edu	37	17	10397739	10397739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:10397739T>A	ENST00000226207.5	-	39	5693	c.5599A>T	c.(5599-5601)Agg>Tgg	p.R1867W	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1867						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1867W(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGGAGCCTGAGAATATTC	0.393000													50	158					0	0	0.003610	0	0
GCSAML	148823	broad.mit.edu	37	1	247737611	247737611	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:247737611T>C	ENST00000366491.2	+	7	772	c.275T>C	c.(274-276)cTt>cCt	p.L92P	GCSAML_ENST00000527541.1_Missense_Mutation_p.L80P|GCSAML_ENST00000527084.1_Missense_Mutation_p.L80P|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366488.4_Missense_Mutation_p.L112P|GCSAML_ENST00000463359.1_Missense_Mutation_p.L80P|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.L92P|GCSAML_ENST00000366489.1_Missense_Mutation_p.L92P					germinal center-associated, signaling and motility-like									p.L112P(2)									GAATATGCCCTTCTTAGGACT	0.443000													35	107					0	0	0.002836	0	0
MMP3	4314	broad.mit.edu	37	11	102713485	102713485	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:102713485G>A	ENST00000299855.5	-	2	524	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	90					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P90S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCACACCTGGGCTTGCGCATC	0.512000													9	8					0	0	0.004482	0	0
HECW1	23072	broad.mit.edu	37	7	43447290	43447290	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:43447290A>T	ENST00000395891.1	+	8	1366	c.761A>T	c.(760-762)aAg>aTg	p.K254M	HECW1_ENST00000453890.1_Missense_Mutation_p.K254M|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	254	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.K254M(2)|p.K233M(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAGATCCAAGATCATAGGC	0.522000													42	64					0	0	0.002852	0	0
CTPS1	1503	broad.mit.edu	37	1	41453091	41453091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:41453091G>T	ENST00000372621.4	+	4	893	c.385G>T	c.(385-387)Gcg>Tcg	p.A129S	CTPS1_ENST00000372616.1_Missense_Mutation_p.A129S|CTPS1_ENST00000543104.1_Missense_Mutation_p.A136S|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	129					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.A129S(4)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GATGAGACAGGCGTTAATACC	0.433000													22	55					7.07758e-08	8.89581e-08	0.004656	1	0
PTGS1	5742	broad.mit.edu	37	9	125145835	125145835	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:125145835G>T	ENST00000362012.2	+	8	815	c.810G>T	c.(808-810)gtG>gtT	p.V270V	PTGS1_ENST00000223423.4_Silent_p.V270V|PTGS1_ENST00000540753.1_Silent_p.V245V|PTGS1_ENST00000373698.5_Silent_p.V161V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	270					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.V270V(2)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AGGCGCCTGTGTTGATGCACT	0.642000													10	53					1.61879e-10	2.19296e-10	0.001368	1	0
PLCL1	5334	broad.mit.edu	37	2	198950213	198950213	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:198950213G>C	ENST00000428675.1	+	2	2370	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D560H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	658	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D560H(2)|p.D658H(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAATCCACAGGACTTTTGGAA	0.413000													6	61					0	0	0.000978	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947485	57947485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:57947485G>T	ENST00000335397.3	+	3	885	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G190V(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGACCTGTGGGGAGAGCTAC	0.463000													32	116					1.08312e-15	1.6526e-15	0.009535	1	0
ANK2	287	broad.mit.edu	37	4	114153332	114153332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:114153332T>A	ENST00000357077.4	+	5	453	c.400T>A	c.(400-402)Tta>Ata	p.L134I	ANK2_ENST00000264366.6_Missense_Mutation_p.L134I|ANK2_ENST00000394537.3_Missense_Mutation_p.L134I|ANK2_ENST00000506722.1_Missense_Mutation_p.L113I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	134					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.L134I(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTTACTCCTTTATACATGGC	0.393000													50	95					0	0	0.003610	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541382	40541382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:40541382G>C	ENST00000434248.1	-	5	1449	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Q314E	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q462E(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGCAATGTTGAATAAGTTGG	0.378000													17	107					0	0	0.004990	0	0
RNF20	56254	broad.mit.edu	37	9	104319803	104319803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:104319803G>T	ENST00000389120.3	+	16	2397	c.2307G>T	c.(2305-2307)aaG>aaT	p.K769N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	769					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	p.K769N(2)		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)		AGCGTATCAAGTCCAATCAGA	0.453000													12	42					5.16669e-11	7.08027e-11	0.000978	1	0
RASGRF2	5924	broad.mit.edu	37	5	80497210	80497210	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:80497210G>A	ENST00000265080.4	+	19	2922	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R952Q(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGTTTTGCGAGACCCAGAC	0.403000													13	169					0	0	0.003163	0	0
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57175250C>T	ENST00000537055.2	-	2	1548	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.T461T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCCCGTGTGCGTGCGCTGGT	0.662000													17	92					0	0	0.004007	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:102964544T>A	ENST00000233954.1	+	9	1381	c.1110T>A	c.(1108-1110)acT>acA	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383000													19	61					0	0	0.001882	0	0
NPSR1	387129	broad.mit.edu	37	7	34867133	34867133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:34867133T>A	ENST00000360581.1	+	5	727	c.599T>A	c.(598-600)cTg>cAg	p.L200Q	NPSR1_ENST00000381539.3_Missense_Mutation_p.L200Q|NPSR1_ENST00000381542.1_Missense_Mutation_p.L134Q|NPSR1_ENST00000531252.1_Missense_Mutation_p.L189Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.L200Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	200						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.L200Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCTGGGCCCTGTGGCCTGAC	0.532000													17	156					0	0	0.007413	0	0
SEPT14	346288	broad.mit.edu	37	7	55912411	55912411	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:55912411C>A	ENST00000388975.3	-	4	292	c.175_splice	c.e4-1	p.G59_splice	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	59					cell cycle|cell division	septin complex	GTP binding|protein binding	p.G59V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCAGTCTCCCCTGTAATAGA	0.343000													4	23					0.000602214	0.000660205	0.000602	1	0
AGPAT9	84803	broad.mit.edu	37	4	84516068	84516068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:84516068G>T	ENST00000395226.2	+	8	1027	c.809G>T	c.(808-810)tGg>tTg	p.W270L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.W270L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	270					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.W270L(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTCATGTCTGGTTTGAACGC	0.438000													39	149					3.33393e-15	5.0478e-15	0.004878	1	0
UBE3B	89910	broad.mit.edu	37	12	109936051	109936051	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:109936051T>C	ENST00000342494.3	+	11	1428	c.833T>C	c.(832-834)tTa>tCa	p.L278S	UBE3B_ENST00000280774.5_Missense_Mutation_p.L278S|UBE3B_ENST00000434735.2_Missense_Mutation_p.L278S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.L278S(2)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCACTGTTTTAGAATCCCAT	0.413000													61	134					0	0	0.003610	0	0
MYBL2	4605	broad.mit.edu	37	20	42344627	42344627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:42344627G>T	ENST00000217026.4	+	14	2130	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	MYBL2_ENST00000396863.4_Missense_Mutation_p.C644F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	668						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.C668F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACGGTGGCCTGCGGGGGGACC	0.622000													9	405					5.4927e-09	7.11527e-09	0.004482	1	0
ZNF835	90485	broad.mit.edu	37	19	57175089	57175089	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57175089T>C	ENST00000537055.2	-	2	1709	c.1478A>G	c.(1477-1479)cAg>cGg	p.Q493R		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.Q515R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ATGCGTCCTCTGGTGTCGGAT	0.627000													63	246					0	0	0.003610	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303330	153303330	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:153303330C>A	ENST00000368739.3	-	9	1381	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L	PGLYRP4_ENST00000359650.5_Silent_p.L345L			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	345					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	p.L345L(2)		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)			TGTGGCCCACCAGCAGGTAGT	0.552000													63	152					2.50483e-33	4.46644e-33	0.003610	1	0
ITGA1	3672	broad.mit.edu	37	5	52211398	52211398	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:52211398G>T	ENST00000282588.6	+	15	2420	c.1962G>T	c.(1960-1962)ggG>ggT	p.G654G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	654					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.G654G(2)		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)				TGACTATTGGGGGCCTTGGTG	0.463000													82	138					3.59392e-34	6.46688e-34	0.003610	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	121					0	0	0.009096	0	0
GPHN	10243	broad.mit.edu	37	14	67579829	67579829	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:67579829G>T	ENST00000478722.1	+	16	2688	c.1567G>T	c.(1567-1569)Gtc>Ttc	p.V523F	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.V459F|GPHN_ENST00000315266.5_Missense_Mutation_p.V490F|GPHN_ENST00000543237.1_Missense_Mutation_p.V536F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	490	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.V523F(2)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTGTAGGTGTCACAGAGGT	0.468000			T	MLL	AL								8	76					1.26484e-09	1.6714e-09	0.003080	1	0
FBXO16	157574	broad.mit.edu	37	8	28309761	28309761	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:28309761C>A	ENST00000380254.2	-	6	888	c.740_splice	c.e6+1	p.G247_splice	FBXO16_ENST00000346498.2_Splice_Site_p.G235_splice|RP11-181B11.2_ENST00000523935.1_RNA|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000518734.1_Splice_Site_p.G235_splice	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	247								p.G247V(2)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AGCTTCTTACCCTTGCTGGAC	0.403000													26	58					2.44723e-14	3.63098e-14	0.004656	1	0
LRRC4	64101	broad.mit.edu	37	7	127670602	127670602	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:127670602A>G	ENST00000249363.3	-	2	349	c.92T>C	c.(91-93)cTg>cCg	p.L31P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	31						cell junction|integral to membrane|postsynaptic membrane		p.L31P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGCTGCACACAGAATCCACAC	0.622000													93	54					0	0	0.003610	0	0
RGAG1	57529	broad.mit.edu	37	X	109694400	109694400	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:109694400A>T	ENST00000465301.2	+	3	801	c.555A>T	c.(553-555)tcA>tcT	p.S185S	RGAG1_ENST00000540313.1_Silent_p.S185S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	185										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGCACTTCATCCTCTGAGG	0.473000													4	213					0	0	0.009096	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395968	38395968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:38395968G>T	ENST00000377698.3	+	2	376	c.223G>T	c.(223-225)Gat>Tat	p.D75Y		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGACCGGGCTGATGTGGATCG	0.642000													41	123					5.22555e-25	8.91507e-25	0.003610	1	0
PIWIL2	55124	broad.mit.edu	37	8	22175745	22175745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:22175745G>C	ENST00000356766.6	+	20	2508	c.2360G>C	c.(2359-2361)aGc>aCc	p.S787T	PIWIL2_ENST00000454009.2_Missense_Mutation_p.S787T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.S787T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	787	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.S787T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGTGGACAGCCTGAAGCTA	0.453000													26	105					0	0	0.008361	0	0
HR	55806	broad.mit.edu	37	8	21976735	21976735	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:21976735C>G	ENST00000381418.4	-	15	4519	c.3039G>C	c.(3037-3039)ctG>ctC	p.L1013L	HR_ENST00000312841.8_Silent_p.L1013L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1013	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.L1013L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGATGCTGACCAGGTCGGCCA	0.602000													17	51					0	0	0.004990	0	0
DLAT	1737	broad.mit.edu	37	11	111896296	111896296	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:111896296G>A	ENST00000280346.6	+	1	759	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	DLAT_ENST00000393051.1_Missense_Mutation_p.V34M	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	34					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	p.V34M(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AACTCCACGAGTGACCTCGCG	0.682000													9	35					0	0	0.006214	0	0
FEV	54738	broad.mit.edu	37	2	219846816	219846816	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:219846816T>A	ENST00000295727.1	-	3	871	c.290A>T	c.(289-291)aAc>aTc	p.N97I		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	97					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.N97I(2)	EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTCGTAGTTCATGTTGGG	0.642000			T	"""EWSR1,  FUS"""	Ewing sarcoma								23	28					0	0	0.002299	0	0
ESRP2	80004	broad.mit.edu	37	16	68265245	68265245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:68265245G>A	ENST00000473183.2	-	12	2085	c.1547C>T	c.(1546-1548)aCa>aTa	p.T516I	ESRP2_ENST00000565858.1_Missense_Mutation_p.T526I			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	526	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	p.T516I(4)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CTCTGCTGATGTCATCTGAAT	0.562000													33	37					0	0	0.002096	0	0
SHPRH	257218	broad.mit.edu	37	6	146247376	146247376	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:146247376T>A	ENST00000367503.3	-	16	3683	c.3285A>T	c.(3283-3285)atA>atT	p.I1095I	SHPRH_ENST00000367505.2_Silent_p.I1086I|SHPRH_ENST00000275233.7_Silent_p.I1086I|SHPRH_ENST00000438092.2_Silent_p.I1095I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1086					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.I1095I(2)		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)		AGGTAGGTGGTATCCCTGGGT	0.378000													15	37					0	0	0.004990	0	0
STXBP5	134957	broad.mit.edu	37	6	147631360	147631360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:147631360C>T	ENST00000367481.3	+	10	1166	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	STXBP5_ENST00000321680.6_Missense_Mutation_p.T353I|STXBP5_ENST00000179882.6_Missense_Mutation_p.T24I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T353I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	353					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.T353I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTGTGTGAAACACCATACCCA	0.353000													11	20					0	0	0.000978	0	0
ZZZ3	26009	broad.mit.edu	37	1	78047770	78047770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:78047770C>A	ENST00000370801.3	-	7	2161	c.1686G>T	c.(1684-1686)ttG>ttT	p.L562F	ZZZ3_ENST00000370798.1_Missense_Mutation_p.L68F|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L562F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CGATCTCAGGCAATTGAACAA	0.343000													33	123					4.32679e-17	6.79433e-17	0.006999	1	0
MIDN	90007	broad.mit.edu	37	19	1254919	1254919	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:1254919A>T	ENST00000300952.2	+	6	1230	c.715A>T	c.(715-717)Acg>Tcg	p.T239S	MIDN_ENST00000591446.2_Missense_Mutation_p.T239S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	239						nucleolus		p.T239S(2)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTCCCCCACGGCCAGCAG	0.667000													46	135					0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10970037	10970037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr21:10970037C>A	ENST00000298232.7	-	6	458	c.91G>T	c.(91-93)Gca>Tca	p.A31S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A31S|TPTE_ENST00000342420.5_Missense_Mutation_p.A31S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	31					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A31S(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTCGGTTGCTCCTTTAAAT	0.393000													26	150					1.16021e-09	1.53656e-09	0.007291	1	0
CDH6	1004	broad.mit.edu	37	5	31323317	31323317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:31323317G>T	ENST00000265071.2	+	12	2540	c.2275G>T	c.(2275-2277)Gat>Tat	p.D759Y		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	759					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D759Y(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGACCACGGATGCAGATCA	0.537000													28	115					9.39395e-14	1.37654e-13	0.006320	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202406948	202406948	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:202406948G>T	ENST00000406302.3	+	10	1407		c.e10-1		PPP1R12B_ENST00000336894.4_Splice_Site|PPP1R12B_ENST00000356764.2_Splice_Site|PPP1R12B_ENST00000480184.1_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCTCTCATAGTTCTCTTCTG	0.408000													22	77					1.87028e-06	2.24131e-06	0.001882	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020658	33020658	+	RNA	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:33020658G>C	ENST00000565407.2	+	0	66				RP11-19N8.2_ENST00000567619.1_RNA														p.Q22H(2)									GTGAGGTGCAGCTGGTGGAGT	0.547000													66	69					0	0	0.003610	0	0
SLC12A2	6558	broad.mit.edu	37	5	127483407	127483407	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:127483407C>T	ENST00000262461.2	+	11	2056	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P623S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	623					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	p.P623S(2)		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)	AGTGAGTGCTCCCAAAATATT	0.323000													4	35					0	0	0.009096	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638158	19638158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:19638158G>T	ENST00000555938.1	+	3	254	c.242G>T	c.(241-243)cGg>cTg	p.R81L	NDUFA13_ENST00000503283.1_Missense_Mutation_p.R81L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.R81L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.R81L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R164L														p.R164L(2)									GAAACCGACCGGAGGTAGCAC	0.632000													9	59					5.4927e-09	7.11527e-09	0.004482	1	0
ERLEC1	27248	broad.mit.edu	37	2	54045035	54045035	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:54045035G>A	ENST00000185150.4	+	14	1512	c.1380_splice	c.e14-1	p.V461_splice	ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Splice_Site_p.V435_splice|ERLEC1_ENST00000378239.5_Splice_Site_p.V407_splice|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	461					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.V461I(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTTCTTTAGGTTGAATCTCC	0.338000													9	48					0	0	0.004482	0	0
C19orf40	91442	broad.mit.edu	37	19	33464469	33464469	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:33464469G>A	ENST00000588258.1	+	3	353		c.e3+1		C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000590281.1_Splice_Site|C19orf40_ENST00000589646.1_Splice_Site	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40						DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					GGTTAGAAATGTAAGTATTAg	0.502000								Direct reversal of damage					5	224					0	0	0.000602	0	0
TAAR2	9287	broad.mit.edu	37	6	132938808	132938808	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:132938808G>T	ENST00000275191.2	-	1	509	c.402C>A	c.(400-402)gtC>gtA	p.V134V	TAAR2_ENST00000537809.1_Silent_p.V134V|TAAR2_ENST00000367931.1_Silent_p.V179V	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	179						plasma membrane	G-protein coupled receptor activity	p.V179V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTCTGAGAAGACCACCCCGA	0.463000													19	33					2.35188e-11	3.23794e-11	0.006122	1	0
ITCH	83737	broad.mit.edu	37	20	33067498	33067498	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:33067498A>T	ENST00000374864.4	+	18	1935	c.1722A>T	c.(1720-1722)gcA>gcT	p.A574A	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.A464A|ITCH_ENST00000262650.6_Silent_p.A615A	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	615	HECT.|MAP kinase docking site (By similarity).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.A574A(2)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTGAATATGCAGGGAAGGATA	0.353000													30	56					0	0	0.008361	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854852	21854852	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:21854852C>T	ENST00000415645.2	-	4	439	c.400G>A	c.(400-402)Gga>Aga	p.G134R	NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.G134R|NPIPB4_ENST00000539318.1_5'UTR					nuclear pore complex interacting protein family, member B4									p.G1454R(2)									ATTTTATTTCCTCGAAAGGAA	0.423000													42	566					0	0	0.002852	0	0
UPF1	5976	broad.mit.edu	37	19	18968170	18968170	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:18968170G>C	ENST00000262803.5	+	15	2282	c.2010G>C	c.(2008-2010)gtG>gtC	p.V670V	UPF1_ENST00000599848.1_Silent_p.V681V	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	681					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.V670V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCAGTGGTGATGTGCAAGA	0.627000													26	107					0	0	0.006320	0	0
GALR1	2587	broad.mit.edu	37	18	74963085	74963085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:74963085C>A	ENST00000299727.3	+	1	581	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGCCCGACCCTCGCCACAAG	0.662000													27	116					8.16721e-17	1.2791e-16	0.002096	1	0
PANK2	80025	broad.mit.edu	37	20	3869922	3869922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:3869922C>T	ENST00000316562.4	+	1	181	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	59					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.R59*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAATCCTCCTCGAGTTAGGGA	0.677000													7	17					0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129649485	129649485	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:129649485C>G	ENST00000421865.2	+	29	4288	c.4239C>G	c.(4237-4239)acC>acG	p.T1413T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1413	Laminin EGF-like 14; second part.				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.T1413T(2)		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)		CTGGACCAACCCTGGGCACCT	0.517000													38	54					0	0	0.005524	0	0
CUX1	1523	broad.mit.edu	37	7	101870904	101870904	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:101870904G>T	ENST00000360264.3	+	21	3441	c.3421G>T	c.(3421-3423)Ggc>Tgc	p.G1141C	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G1074C|CUX1_ENST00000556210.1_Missense_Mutation_p.G972C|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G1108C|CUX1_ENST00000546411.2_Missense_Mutation_p.G1028C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G1130C|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1130					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G1130C(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGACACCTACGGCATAACCAA	0.607000													25	72					1.2476e-16	1.82032e-16	0.116897	1	0
HPCAL4	51440	broad.mit.edu	37	1	40148339	40148339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:40148339G>T	ENST00000372844.3	-	4	836	c.445C>A	c.(445-447)Cag>Aag	p.Q149K		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	149	EF-hand 4.				central nervous system development	intracellular	calcium ion binding	p.Q149K(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCACACGCTGCTGGGGCGTG	0.547000													35	130					6.02501e-08	7.25965e-08	0.235728	1	0
ACOX3	8310	broad.mit.edu	37	4	8418165	8418165	+	Silent	SNP	C	C	T	rs35092737	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:8418165C>T	ENST00000356406.5	-	2	161	c.84G>A	c.(82-84)gcG>gcA	p.A28A	ACOX3_ENST00000413009.2_Silent_p.A28A|ACOX3_ENST00000503233.1_Silent_p.A28A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	28					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.A28A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGCTGAAGGACGCTCTTGCTC	0.607000													5	120					0	0	0.217242	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30882156	30882156	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:30882156C>T	ENST00000251071.5	-	8	1958	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R403H|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R403H|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R70H|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R403H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	403					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.R403H(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATATCCCAACGTTTTGGGAG	0.443000													45	114					0	0	0.139131	0	0
RBAK	57786	broad.mit.edu	37	7	5103997	5103997	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:5103997C>T	ENST00000396912.1	+	5	1429	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.L304F	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	304					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L304F(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAGGGAACCCTCACTGTACA	0.418000													25	101					0	0	0.279207	0	0
AKAP1	8165	broad.mit.edu	37	17	55193622	55193622	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:55193622G>C	ENST00000337714.3	+	7	2665	c.2432_splice	c.e7+1	p.R811_splice	AKAP1_ENST00000572557.1_Splice_Site_p.R811_splice|AKAP1_ENST00000539273.1_Splice_Site_p.R811_splice|AKAP1_ENST00000571629.1_Splice_Site_p.R811_splice	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	811	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.R811T(2)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGGCAAATCAGGTGAGCGGAG	0.572000													31	101					0	0	0.163468	0	0
ANK1	286	broad.mit.edu	37	8	41581079	41581079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:41581079C>A	ENST00000396942.1	-	8	867	c.784G>T	c.(784-786)Gga>Tga	p.G262*	ANK1_ENST00000379758.2_Nonsense_Mutation_p.G262*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.G262*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.G262*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.G295*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.G262*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.G262*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	262	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G295*(2)|p.G262*(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATCTGGGCTCCCCGATCCAGC	0.652000													22	83					7.87624e-14	1.07703e-13	0.264190	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													6	78					0	0	0.217242	0	0
OR6C74	254783	broad.mit.edu	37	12	55641435	55641435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:55641435G>T	ENST00000343870.4	+	1	454	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122L(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAGCGCTATGTGGCCATCTG	0.463000													69	175					3.07281e-33	5.42587e-33	0.139131	1	0
MSRB2	22921	broad.mit.edu	37	10	23409753	23409753	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:23409753A>C	ENST00000376510.3	+	5	614	c.511A>C	c.(511-513)Aac>Cac	p.N171H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	171					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N171H(2)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GTTTTGCATCAACAGTGTGGC	0.493000													19	60					0	0	0.204396	0	0
MBTPS1	8720	broad.mit.edu	37	16	84103628	84103628	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:84103628C>G	ENST00000343411.3	-	14	2293	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	600					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.E600Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAAGTCTGTTCTGCACCATTT	0.393000													59	106					0	0	0.139131	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812210	140812210	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140812210G>T	ENST00000252085.3	+	1	2026	c.1884G>T	c.(1882-1884)acG>acT	p.T628T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.T628T(4)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.687000													33	179					1.30998e-17	1.94023e-17	0.225048	1	0
TSPAN32	10077	broad.mit.edu	37	11	2337896	2337896	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:2337896C>A	ENST00000182290.4	+	8	855	c.719_splice	c.e8+1	p.R240_splice	TSPAN32_ENST00000381121.3_Splice_Site_p.R240_splice|TSPAN32_ENST00000451520.2_Splice_Site_p.R229_splice	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	240					cell-cell signaling	integral to membrane		p.R240R(2)|p.R240*(1)		breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCTGACCCCACGGTAGGGCCC	0.657000													9	36					0.0581538	0.0596761	0.058154	1	0
HPS5	11234	broad.mit.edu	37	11	18301447	18301447	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:18301447G>C	ENST00000396253.3	-	22	3492	c.3030C>G	c.(3028-3030)ctC>ctG	p.L1010L	HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000438420.2_Silent_p.L1010L|HPS5_ENST00000349215.3_Silent_p.L1124L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1124						cytosol		p.L1124L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGGGACCAGAGAAACCGAT	0.403000									Hermansky-Pudlak syndrome				14	54					0	0	0.146539	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731096	140731096	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140731096G>A	ENST00000523390.1	+	1	1269	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.K423K(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGACAAGGGCAAACCAG	0.517000													32	27					0	0	0.153744	0	0
CCDC8	83987	broad.mit.edu	37	19	46914764	46914764	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:46914764C>G	ENST00000307522.3	-	1	2077	c.1304G>C	c.(1303-1305)gGc>gCc	p.G435A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	435						plasma membrane		p.G435A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCCCTCTGGCCAGCCCGGGC	0.597000													23	76					0	0	0.264190	0	0
LOC440700	440700	broad.mit.edu	37	1	165678714	165678714	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:165678714C>G	ENST00000400982.2	+	0	725					NR_036683.1																						ATCAGAAGAGCGTGGTCATCA	0.512000													6	22					0	0	0.217242	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677103	36677103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:36677103G>T	ENST00000265113.4	+	6	1153	c.677G>T	c.(676-678)cGa>cTa	p.R226L	SLC1A3_ENST00000381918.3_Missense_Mutation_p.R226L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	226					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R226Q(2)|p.R226L(2)		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)	ACTCTTACCCGAATCACAGAG	0.488000													19	105					0.00074312	0.000801752	0.175082	1	0
LSP1	4046	broad.mit.edu	37	11	1904695	1904695	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:1904695C>A	ENST00000406638.2	+	4	1519	c.217C>A	c.(217-219)Ctg>Atg	p.L73M	LSP1_ENST00000405957.2_Missense_Mutation_p.L73M|LSP1_ENST00000381775.1_Missense_Mutation_p.L263M|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.L135M	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	135					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.L135M(2)|p.L73M(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGAAGTCCACCTGGAGGAGTT	0.607000													23	59					9.95505e-16	1.41391e-15	0.249174	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43629263	43629263	+	Splice_Site	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:43629263C>G	ENST00000332857.6	-	2	275	c.247_splice	c.e2+1	p.A83_splice		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.A83P(2)									AGAGCCTTACCTCTCAGACTG	0.547000													47	41					0	0	0.139131	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177108	89177108	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:89177108G>T	ENST00000561129.2	+	1	154	c.24G>T	c.(22-24)ccG>ccT	p.P8P	TGIF2LX_ENST00000283891.5_Silent_p.P8P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P8P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGACGGCCCGGCTGAGACCC	0.527000													28	55					3.03874e-20	4.71446e-20	0.183431	1	0
MPPED2	744	broad.mit.edu	37	11	30435814	30435814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30435814C>A	ENST00000448418.2	-	6	1087	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F	MPPED2_ENST00000358117.5_Missense_Mutation_p.V243F|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	243					nervous system development		hydrolase activity|metal ion binding	p.V243F(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TTGGGCCGGACTCGCCTCTGA	0.473000													11	49					7.03913e-09	8.67716e-09	0.093190	1	0
ANK1	286	broad.mit.edu	37	8	41551533	41551533	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:41551533G>A	ENST00000396942.1	-	29	3498	c.3415C>T	c.(3415-3417)Cgg>Tgg	p.R1139W	ANK1_ENST00000379758.2_Missense_Mutation_p.R1139W|ANK1_ENST00000347528.4_Missense_Mutation_p.R1139W|ANK1_ENST00000396945.1_Missense_Mutation_p.R1139W|ANK1_ENST00000265709.8_Missense_Mutation_p.R1180W|ANK1_ENST00000289734.7_Missense_Mutation_p.R1139W|ANK1_ENST00000352337.4_Missense_Mutation_p.R1139W			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1139					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1180W(2)|p.R1139W(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAACTTCCGGCGCCGGGGC	0.642000													15	57					0	0	0.160694	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604515	160604515	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:160604515G>T	ENST00000302035.6	-	3	937	c.588C>A	c.(586-588)ctC>ctA	p.L196L	SLAMF1_ENST00000355199.3_Silent_p.L196L|SLAMF1_ENST00000235739.5_Silent_p.L196L|SLAMF1_ENST00000538290.1_Silent_p.L196L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	196	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.L196L(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCCGAGGGTGAGGGACAGGA	0.602000													134	71					1.19989e-24	1.99303e-24	0.139131	1	0
EEF2K	29904	broad.mit.edu	37	16	22268069	22268069	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:22268069G>T	ENST00000263026.5	+	7	1093	c.618_splice	c.e7-1	p.V207_splice		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	207	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.V207L(4)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATCCCACCAGGTGGACATCAT	0.617000													11	48					3.07112e-06	3.58297e-06	0.080935	1	0
CASR	846	broad.mit.edu	37	3	122002901	122002901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:122002901C>A	ENST00000498619.1	+	7	2568	c.2130C>A	c.(2128-2130)aaC>aaA	p.N710K	CASR_ENST00000296154.5_Missense_Mutation_p.N700K|CASR_ENST00000490131.1_Missense_Mutation_p.N700K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	700					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.N700K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGAAAACCAACCGTGTCCTCC	0.602000													35	99					1.99505e-19	3.04699e-19	0.163468	1	0
VGLL3	389136	broad.mit.edu	37	3	87017756	87017756	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:87017756G>C	ENST00000398399.2	-	3	1284	c.921C>G	c.(919-921)agC>agG	p.S307R	VGLL3_ENST00000383698.3_Missense_Mutation_p.S307R	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S307R(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGAATCCCACGCTGGGCACTA	0.418000													19	52					0	0	0.204396	0	0
CHD4	1108	broad.mit.edu	37	12	6709107	6709107	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:6709107C>A	ENST00000309577.6	-	10	1477	c.1314G>T	c.(1312-1314)ggG>ggT	p.G438G	CHD4_ENST00000544484.1_Silent_p.G435G|CHD4_ENST00000357008.2_Silent_p.G438G|CHD4_ENST00000544040.1_Silent_p.G431G			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	438					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.G438G(4)		central_nervous_system(2)	2						CGAGGTCTCCCCCAACCTCTT	0.522000													98	288					1.04553e-52	1.94547e-52	0.139131	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54913116	54913116	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:54913116G>T	ENST00000474759.1	+	19	1830	c.1782_splice	c.e19+1	p.G594_splice	CACNA2D3_ENST00000490478.1_Splice_Site_p.G500_splice|CACNA2D3_ENST00000288197.5_Splice_Site_p.G594_splice|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Splice_Site_p.G594_splice	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	594						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G594G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGACAAAGGGGTACATTTTT	0.343000													4	23					0.00909568	0.0095847	0.150653	1	0
TFPI2	7980	broad.mit.edu	37	7	93518469	93518469	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:93518469T>C	ENST00000222543.5	-	3	650	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	113	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.Y113C(2)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTAAAGAAATACTTTTCTGT	0.443000													51	186					0	0	0.139131	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262039	1262039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:1262039G>T	ENST00000348261.5	+	25	4908	c.4660G>T	c.(4660-4662)Gtg>Ttg	p.V1554L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632000													34	144					1.76533e-06	2.06364e-06	0.193644	1	0
TFEC	22797	broad.mit.edu	37	7	115581932	115581932	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:115581932C>A	ENST00000393485.1	-	6	774	c.591G>T	c.(589-591)atG>atT	p.M197I	TFEC_ENST00000320239.7_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.M316I|TFEC_ENST00000457268.1_Intron|TFEC_ENST00000265440.7_Intron			O14948	TFEC_HUMAN	transcription factor EC	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCATGGCTACATTCTTATAA	0.363000													10	192					7.21436e-19	1.0877e-18	0.204396	1	0
NPFFR2	10886	broad.mit.edu	37	4	72897911	72897911	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:72897911G>T	ENST00000308744.6	+	1	391	c.293G>T	c.(292-294)cGg>cTg	p.R98L	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R98L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	98					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.R98L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGGCTCGCCGGGAGAGGTAA	0.622000													12	21					0.0167234	0.017435	0.105934	1	0
SPTA1	6708	broad.mit.edu	37	1	158585087	158585087	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:158585087A>T	ENST00000368148.3	-	48	6887	c.6707T>A	c.(6706-6708)aTt>aAt	p.I2236N	SPTA1_ENST00000368147.3_Missense_Mutation_p.I2233N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2236					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I2236N(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAATCCAATGGTGCTGTA	0.532000													14	415					0	0	0.119110	0	0
AQP9	366	broad.mit.edu	37	15	58465266	58465266	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:58465266G>T	ENST00000219919.4	+	3	608		c.e3-1		ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Splice_Site|AQP9_ENST00000536493.1_Splice_Site	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9						cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.?(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCCCTTGCAGGTGGTCACAT	0.463000													74	209					5.72124e-26	9.66693e-26	0.139131	1	0
USH2A	7399	broad.mit.edu	37	1	216495266	216495266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:216495266T>C	ENST00000366943.2	-	9	1989	c.1603A>G	c.(1603-1605)Aga>Gga	p.R535G	USH2A_ENST00000307340.3_Missense_Mutation_p.R535G|USH2A_ENST00000366942.3_Missense_Mutation_p.R535G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	535	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGAGGCATCTATATGGCTGG	0.428000										HNSCC(13;0.011)			6	148					0	0	0.248553	0	0
UNK	85451	broad.mit.edu	37	17	73780814	73780814	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:73780814C>A	ENST00000293218.3	+	2	81	c.81C>A	c.(79-81)gaC>gaA	p.D27E	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27E(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGCCGGACATAGAACCAC	0.642000													9	40					9.31168e-06	1.06316e-05	0.105934	1	0
UTRN	7402	broad.mit.edu	37	6	144769835	144769835	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:144769835A>G	ENST00000367545.3	+	16	2002	c.2002A>G	c.(2002-2004)Aag>Gag	p.K668E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	668	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)		AAAAAAATCTAAGCAGGAACT	0.433000													4	131					0	0	0.150653	0	0
RXFP3	51289	broad.mit.edu	37	5	33937086	33937086	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:33937086C>A	ENST00000330120.3	+	1	596	c.241C>A	c.(241-243)Cgg>Agg	p.R81R		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	81						integral to plasma membrane	N-formyl peptide receptor activity	p.R81R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCCGGGTGCGGATTCTCAT	0.687000													17	101					4.75885e-15	6.64656e-15	0.160694	1	0
CAPN11	11131	broad.mit.edu	37	6	44150906	44150906	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:44150906G>A	ENST00000398776.1	+	21	2106	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	CAPN11_ENST00000542245.1_Missense_Mutation_p.D690N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	690	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.D690N(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTATGCAGATGATGACCT	0.522000													40	116					0	0	0.131918	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603156	140603156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140603156G>T	ENST00000239449.4	+	1	79	c.79G>T	c.(79-81)Ggt>Tgt	p.G27C	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		27					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.G27C(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCGGGCAGGTACTGAATC	0.498000													11	92					0.000673444	0.000729254	0.069234	1	0
CMAS	55907	broad.mit.edu	37	12	22208545	22208545	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:22208545G>T	ENST00000229329.2	+	3	689		c.e3+1			NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase						lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	p.?(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAAGGAGGTAATCTCTTT	0.343000													29	90					5.09552e-08	6.15229e-08	0.153744	1	0
ANK3	288	broad.mit.edu	37	10	61833765	61833765	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:61833765C>A	ENST00000280772.1	-	37	7065	c.6874G>T	c.(6874-6876)Ggt>Tgt	p.G2292C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2292					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G2292C(2)|p.G2292S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAACAGACCTGCCAGTTCT	0.493000													59	122					1.73933e-33	3.0805e-33	0.139131	1	0
LRFN3	79414	broad.mit.edu	37	19	36430769	36430769	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:36430769G>T	ENST00000588831.1	+	3	1496	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	LRFN3_ENST00000246529.3_Missense_Mutation_p.A148S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	148					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		p.A148S(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGCTGGCGGCCGGCGCCCT	0.677000													19	36					9.7654e-05	0.000108545	0.189662	1	0
ZFAND1	79752	broad.mit.edu	37	8	82615028	82615028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:82615028T>A	ENST00000220669.5	-	8	727	c.709A>T	c.(709-711)Aag>Tag	p.K237*	ZFAND1_ENST00000521895.1_Nonstop_Mutation_p.*127L|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.K130*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.K230*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	237							zinc ion binding	p.K237*(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CAATCCTCCTTAGCAATCCAG	0.353000													61	179					0	0	0.139131	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522654	32522654	+	RNA	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:32522654G>C	ENST00000411500.1	-	0	552					NR_001298.1																						TGACTTTAATGCTGCCTGGAT	0.547000													7	11					0	0	0.264190	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629414	156629414	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:156629414A>G	ENST00000296518.7	+	5	553	c.344A>G	c.(343-345)gAa>gGa	p.E115G	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E115G|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E115G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	115					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.E115G(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAGACTTTGAAAAAACAATT	0.279000													15	53					0	0	0.175082	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216488	170216488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:170216488C>A	ENST00000231706.4	-	4	1042	c.727G>T	c.(727-729)Gag>Tag	p.E243*	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	243						integral to membrane	amino acid transmembrane transporter activity	p.E243*(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AACTGGCCCTCCGCCCAGTAT	0.517000													27	66					3.1745e-13	4.32084e-13	0.134883	1	0
MAT1A	4143	broad.mit.edu	37	10	82036276	82036276	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:82036276C>A	ENST00000372213.3	-	6	884	c.624G>T	c.(622-624)caG>caT	p.Q208H		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	208					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.Q208H(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTCGTTGTGCTGCACAGAGA	0.582000													80	190					1.3913e-53	2.60536e-53	0.139131	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18491482	18491482	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:18491482G>T	ENST00000433979.1	+	9	1511	c.1395_splice	c.e9+1	p.E465_splice	PIK3C2G_ENST00000266497.5_Splice_Site_p.E465_splice|PIK3C2G_ENST00000538779.1_Splice_Site_p.E465_splice|PIK3C2G_ENST00000535651.1_Splice_Site_p.E465_splice	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	465					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E465D(4)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAAAGGAGAGGTAAGTACAT	0.313000													39	110					1.04594e-18	1.56891e-18	0.235728	1	0
UGT2B15	7366	broad.mit.edu	37	4	69535962	69535962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:69535962G>T	ENST00000338206.5	-	1	384	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	125					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.N125K(2)									TACAGAGCTTGTTACTGTAGT	0.328000													62	261					1.00798e-23	1.65557e-23	0.139131	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22863618	22863618	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:22863618G>T	ENST00000251822.6	+	4	979	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.D170Y|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.D155Y|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	148	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.D148Y(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCGCTACGCTGACCTGGAGGC	0.597000													81	247					1.51503e-27	2.60479e-27	0.139131	1	0
XIRP2	129446	broad.mit.edu	37	2	168099691	168099691	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:168099691G>T	ENST00000409195.1	+	9	1878	c.1789G>T	c.(1789-1791)Ggt>Tgt	p.G597C	XIRP2_ENST00000409273.1_Missense_Mutation_p.G375C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G597C|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	422					actin cytoskeleton organization	cell junction	actin binding	p.G597C(2)		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						TCCTGATGAAGGTGATATTTC	0.438000													33	70					1.04352e-10	1.34264e-10	0.193644	1	0
ALK	238	broad.mit.edu	37	2	29551229	29551229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:29551229C>A	ENST00000389048.3	-	6	2307	c.1401G>T	c.(1399-1401)gaG>gaT	p.E467D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	467	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E467D(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	ACATCTGGCTCTCATCTTCTC	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				38	71					1.04594e-18	1.56891e-18	0.235728	1	0
STAT1	6772	broad.mit.edu	37	2	191841713	191841713	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:191841713C>T	ENST00000361099.3	-	22	2299	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	STAT1_ENST00000409465.1_Missense_Mutation_p.E638K|STAT1_ENST00000392323.2_Missense_Mutation_p.E640K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.E638K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	638	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E638K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCAGAAAGTTCTTTCTTCGTG	0.398000													15	102					0	0	0.160694	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631831	122631831	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:122631831A>G	ENST00000195173.4	-	18	2884	c.2581T>C	c.(2581-2583)Tgg>Cgg	p.W861R	SEMA5B_ENST00000451055.2_Missense_Mutation_p.W916R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.W862R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	862	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.W916R(2)|p.W862R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGACGACCACGGGCCCCAG	0.746000													13	23					0	0	0.105934	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212536	35212536	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:35212536A>G	ENST00000274938.7	+	18	2349	c.2349A>G	c.(2347-2349)ccA>ccG	p.P783P	SCUBE3_ENST00000394681.1_Silent_p.P799P	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	783					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	p.P783P(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCCGCTGTCCAGGAAACACAA	0.577000													37	106					0	0	0.139131	0	0
LONP2	83752	broad.mit.edu	37	16	48303941	48303941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:48303941A>T	ENST00000285737.4	+	7	1090	c.997A>T	c.(997-999)Agg>Tgg	p.R333W	LONP2_ENST00000535754.1_Missense_Mutation_p.R289W	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	333					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.R333W(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGGACATTAGGGCAGCCCG	0.383000													17	163					0	0	0.160694	0	0
PTPRR	5801	broad.mit.edu	37	12	71054802	71054802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:71054802G>T	ENST00000283228.2	-	12	2136	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	PTPRR_ENST00000378778.1_Missense_Mutation_p.Q356K|PTPRR_ENST00000440835.2_Missense_Mutation_p.Q317K|PTPRR_ENST00000549308.1_Missense_Mutation_p.Q317K|PTPRR_ENST00000342084.4_Missense_Mutation_p.Q450K|PTPRR_ENST00000537619.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	562	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q562K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGAGGGGCTGGGCACTGTCT	0.532000													15	54					1.49906e-05	1.69184e-05	0.119110	1	0
C14orf93	60686	broad.mit.edu	37	14	23468206	23468206	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:23468206G>A	ENST00000299088.6	-	2	456	c.27C>T	c.(25-27)ttC>ttT	p.F9F	C14orf93_ENST00000397382.4_Silent_p.F9F|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Silent_p.F9F|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000341470.4_Silent_p.F9F|C14orf93_ENST00000397379.3_Silent_p.F9F	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	9						extracellular region		p.F9F(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGGGAGGGGAGAAGAGAATGG	0.587000													25	90					0	0	0.193644	0	0
PLEC	5339	broad.mit.edu	37	8	144998070	144998070	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144998070C>A	ENST00000322810.4	-	31	6607	c.6438G>T	c.(6436-6438)gaG>gaT	p.E2146D	PLEC_ENST00000357649.2_Missense_Mutation_p.E2013D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2032D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2036D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1995D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2009D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2009D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1987D|PLEC_ENST00000398774.2_Missense_Mutation_p.E1977D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2146	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2009D(2)|p.E2036D(2)|p.E2146D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGACTTCCTCCAGCGCCG	0.756000													4	9					0.0215528	0.0223905	0.217242	1	0
TRIO	7204	broad.mit.edu	37	5	14461326	14461326	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:14461326A>G	ENST00000344204.4	+	35	5426	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.K1801R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1801					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.K1801R(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAAGCACAAGAAGAGCCGC	0.706000													4	8					0	0	0.150653	0	0
OR5M8	219484	broad.mit.edu	37	11	56258462	56258462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56258462G>T	ENST00000327216.2	-	1	409	c.385C>A	c.(385-387)Ctg>Atg	p.L129M		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L129M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCATAAAGCAGAGGGTTGCAG	0.517000													28	53					7.11191e-15	9.86274e-15	0.173368	1	0
CD163	9332	broad.mit.edu	37	12	7647772	7647772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:7647772C>A	ENST00000359156.4	-	6	1527	c.1325G>T	c.(1324-1326)tGt>tTt	p.C442F	CD163_ENST00000541972.1_Missense_Mutation_p.C430F|CD163_ENST00000396620.3_Missense_Mutation_p.C442F|CD163_ENST00000432237.2_Missense_Mutation_p.C442F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	442	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.C442F(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATTTCCGTTACAGCTACTTAG	0.448000													59	154					2.40265e-35	4.32036e-35	0.139131	1	0
TMC2	117532	broad.mit.edu	37	20	2597907	2597907	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:2597907G>A	ENST00000358864.1	+	16	2145	c.2130G>A	c.(2128-2130)gtG>gtA	p.V710V	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	710						integral to membrane		p.V710V(2)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTGCCGGTGGCCTACACCA	0.622000													17	47					0	0	0.116897	0	0
FCHO2	115548	broad.mit.edu	37	5	72383455	72383455	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:72383455G>A	ENST00000430046.2	+	25	2401	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	FCHO2_ENST00000341845.6_Missense_Mutation_p.G762E|FCHO2_ENST00000512348.1_Missense_Mutation_p.G729E	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	762								p.G762E(4)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		CTTTCAGAAGGACCTAGTAAA	0.423000													22	113					0	0	0.234183	0	0
LRFN5	145581	broad.mit.edu	37	14	42356354	42356354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:42356354C>A	ENST00000554171.1	+	5	2958	c.526C>A	c.(526-528)Ctt>Att	p.L176I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L176I|LRFN5_ENST00000298119.4_Missense_Mutation_p.L176I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	176						integral to membrane		p.L176I(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTTGCATACCCTTAGTTTGGA	0.408000										HNSCC(30;0.082)			22	59					7.92052e-27	1.34603e-26	0.249174	1	0
FPR2	2358	broad.mit.edu	37	19	52272906	52272906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:52272906C>A	ENST00000598776.1	+	2	1767	c.995C>A	c.(994-996)aCt>aAt	p.T332N	FPR2_ENST00000598953.1_Missense_Mutation_p.T332N|FPR2_ENST00000340023.6_Missense_Mutation_p.T332N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	332					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T332N(2)|p.T332I(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAGCCCCAACTAATGACACG	0.537000													21	57					2.39187e-15	3.37792e-15	0.204396	1	0
TRPS1	7227	broad.mit.edu	37	8	116631413	116631413	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:116631413C>A	ENST00000395715.3	-	3	1489	c.912G>T	c.(910-912)ctG>ctT	p.L304L	TRPS1_ENST00000520276.1_Silent_p.L295L|TRPS1_ENST00000519674.1_Silent_p.L291L|TRPS1_ENST00000220888.5_Silent_p.L291L|TRPS1_ENST00000519076.1_Silent_p.L245L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	291					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L304L(2)|p.L291L(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGATGTCCTGCAGCACACCAG	0.418000									Langer-Giedion syndrome				24	56					9.86323e-18	1.46454e-17	0.294199	1	0
GRM1	2911	broad.mit.edu	37	6	146720744	146720744	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:146720744C>A	ENST00000392299.2	+	8	3039	c.2569C>A	c.(2569-2571)Cgc>Agc	p.R857S	GRM1_ENST00000507907.1_Missense_Mutation_p.R857S|GRM1_ENST00000492807.2_Missense_Mutation_p.R857S|GRM1_ENST00000282753.1_Missense_Mutation_p.R857S|GRM1_ENST00000355289.4_Missense_Mutation_p.R857S|GRM1_ENST00000361719.2_Missense_Mutation_p.R857S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	857					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R857S(4)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGATGTTGTCCGCATGCATGT	0.527000													13	40					1.49906e-05	1.69184e-05	0.119110	1	0
L1CAM	3897	broad.mit.edu	37	X	153130579	153130579	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:153130579C>A	ENST00000370060.1	-	22	3025	c.2836G>T	c.(2836-2838)Ggc>Tgc	p.G946C	L1CAM_ENST00000370057.3_Missense_Mutation_p.G946C|L1CAM_ENST00000538883.1_Missense_Mutation_p.G948C|L1CAM_ENST00000370055.1_Missense_Mutation_p.G941C|L1CAM_ENST00000361699.4_Missense_Mutation_p.G946C|L1CAM_ENST00000361981.3_Missense_Mutation_p.G941C|L1CAM_ENST00000543994.1_Missense_Mutation_p.G948C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	946	Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGCACGCCGTTGTGGCTG	0.711000													16	26					4.35082e-09	5.37454e-09	0.219247	1	0
TRBV5-7	28608	broad.mit.edu	37	7	142111591	142111591	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142111591T>G	ENST00000390378.1	-	0	144																											GACACACTGGTGTGCCCAGAG	0.532000													84	65					0	0	0.139131	0	0
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:44587938G>A	ENST00000322927.2	-	15	2255	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_ENST00000426788.1_Missense_Mutation_p.R564C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R719C(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657000													38	77					0	0	0.257332	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303881	151303881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:151303881G>T	ENST00000370323.4	-	4	528	c.212C>A	c.(211-213)cCa>cAa	p.P71Q	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P71Q|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	71								p.P71Q(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCTCCTCTGGGGTGCTTGG	0.532000													70	145					1.85257e-25	3.10346e-25	0.139131	1	0
CLCA4	22802	broad.mit.edu	37	1	87012868	87012868	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:87012868C>A	ENST00000370563.3	+	1	108	c.66C>A	c.(64-66)tcC>tcA	p.S22S		NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	22						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.S22S(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATACTTCCTTCATTAAGC	0.363000													32	90					7.11191e-15	9.86274e-15	0.173368	1	0
TMEM66	51669	broad.mit.edu	37	8	29924385	29924385	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:29924385A>G	ENST00000256255.6	-	4	1007	c.750T>C	c.(748-750)ttT>ttC	p.F250F	TMEM66_ENST00000545648.1_Silent_p.F78F|TMEM66_ENST00000536273.1_Silent_p.F78F	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	250						integral to membrane		p.F250F(2)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GTTGTCCTGTAAAAGCACTGC	0.398000													49	141					0	0	0.139131	0	0
SI	6476	broad.mit.edu	37	3	164733862	164733862	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:164733862G>C	ENST00000264382.3	-	32	3828	c.3766C>G	c.(3766-3768)Cag>Gag	p.Q1256E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1256	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.Q1256E(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGTACTGAACATCCTGA	0.333000										HNSCC(35;0.089)			19	198					0	0	0.204396	0	0
GPATCH1	55094	broad.mit.edu	37	19	33588796	33588796	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:33588796A>G	ENST00000170564.2	+	8	1302	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	330						catalytic step 2 spliceosome	nucleic acid binding	p.K330E(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAGGCAGTATAAAAACCAGAA	0.507000													33	92					0	0	0.173368	0	0
HDAC5	10014	broad.mit.edu	37	17	42168703	42168703	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:42168703T>A	ENST00000225983.6	-	11	1648	c.1325A>T	c.(1324-1326)cAt>cTt	p.H442L	HDAC5_ENST00000586802.1_Missense_Mutation_p.H441L|HDAC5_ENST00000393622.2_Missense_Mutation_p.H441L|HDAC5_ENST00000336057.5_Missense_Mutation_p.H441L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	441					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.H441L(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CAGGGAGGCATGCCCGTGGGG	0.662000													11	33					0	0	0.069234	0	0
LRP1B	53353	broad.mit.edu	37	2	141665515	141665515	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:141665515G>T	ENST00000389484.3	-	22	4422	c.3451C>A	c.(3451-3453)Ctg>Atg	p.L1151M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1151	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1151M(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGGCTGCAGGCAGACTGAG	0.453000										TSP Lung(27;0.18)			49	162					8.04919e-23	1.30025e-22	0.139131	1	0
LRRTM3	347731	broad.mit.edu	37	10	68857483	68857483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:68857483G>T	ENST00000361320.4	+	3	2253	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	CTNNA3_ENST00000494580.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	559						integral to membrane		p.E559*(4)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AACACACCTAGAGACTGAGCT	0.483000													14	72					0.000151284	0.000167524	0.105934	1	0
FCRL4	83417	broad.mit.edu	37	1	157556003	157556003	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:157556003T>A	ENST00000271532.1	-	6	1225	c.1090A>T	c.(1090-1092)Agc>Tgc	p.S364C	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	364	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGGCCGTAGCTGTTGTCTGCT	0.493000													8	235					0	0	0.278610	0	0
VCAN	1462	broad.mit.edu	37	5	82785999	82785999	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:82785999T>A	ENST00000265077.3	+	3	718	c.153T>A	c.(151-153)acT>acA	p.T51T	VCAN_ENST00000343200.5_Silent_p.T51T|VCAN_ENST00000502527.2_Silent_p.T51T|VCAN_ENST00000513984.1_Silent_p.T51T|VCAN_ENST00000342785.4_Silent_p.T51T|VCAN_ENST00000512590.2_Silent_p.T3T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	51	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.T51T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGATGCCTACTTTGCCACCCA	0.438000													5	193					0	0	0.184627	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558219	140558219	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140558219G>T	ENST00000239444.2	+	1	849	c.604G>T	c.(604-606)Gac>Tac	p.D202Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D202Y(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGCGCTGGACCGAGAGGA	0.532000													64	227					2.40041e-21	3.80443e-21	0.139131	1	0
OR6A2	8590	broad.mit.edu	37	11	6816036	6816036	+	Missense_Mutation	SNP	C	C	A	rs146813493	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:6816036C>A	ENST00000332601.3	-	1	1092	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V302F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTCTCTTGACCTCTTGATTG	0.473000													23	85					7.87624e-14	1.07703e-13	0.264190	1	0
FRMD7	90167	broad.mit.edu	37	X	131228118	131228118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:131228118G>T	ENST00000298542.4	-	5	509	c.334C>A	c.(334-336)Cca>Aca	p.P112T	FRMD7_ENST00000464296.1_Missense_Mutation_p.P97T|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	112	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.P112T(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCATGGAAGCCTTCCT	0.403000													56	110					5.08636e-23	8.26183e-23	0.139131	1	0
ZFP41	286128	broad.mit.edu	37	8	144332252	144332252	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144332252C>T	ENST00000330701.4	+	2	608	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ZFP41_ENST00000520584.1_Missense_Mutation_p.P80L|ZFP41_ENST00000522452.1_Missense_Mutation_p.P80L	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	80					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P80L(2)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GTGTTCATTCCTTTTCAGAGG	0.512000													35	85					0	0	0.214465	0	0
COL4A2	1284	broad.mit.edu	37	13	111130348	111130348	+	Splice_Site	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:111130348A>G	ENST00000360467.5	+	30	2731		c.e30-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.?(2)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGATTCCTGCAGGAAGCCAAG	0.582000													25	67					0	0	0.125774	0	0
NOP2	4839	broad.mit.edu	37	12	6671110	6671110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:6671110C>A	ENST00000541778.1	-	10	1482	c.994G>T	c.(994-996)Gat>Tat	p.D332Y	NOP2_ENST00000382421.3_Missense_Mutation_p.D369Y|NOP2_ENST00000545200.1_Missense_Mutation_p.D332Y|NOP2_ENST00000537442.1_Missense_Mutation_p.D336Y|NOP2_ENST00000322166.5_Missense_Mutation_p.D336Y|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000399466.2_Missense_Mutation_p.D332Y			P46087	NOP2_HUMAN	NOP2 nucleolar protein	336					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	p.D332Y(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CCCAGGGGATCCAGGTTAACC	0.478000													4	19					0.00909568	0.0095847	0.150653	1	0
TENM3	55714	broad.mit.edu	37	4	183664485	183664485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:183664485G>T	ENST00000511685.1	+	19	3665	c.3542G>T	c.(3541-3543)gGg>gTg	p.G1181V	TENM3_ENST00000406950.2_Missense_Mutation_p.G1181V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.G1181V(2)									CTAGCTTGTGGGATCGATGGC	0.507000													26	80					0.00395357	0.00421906	0.294199	1	0
SUSD1	64420	broad.mit.edu	37	9	114820914	114820914	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:114820914C>T	ENST00000374270.3	-	14	2075	c.1903G>A	c.(1903-1905)Gat>Aat	p.D635N	SUSD1_ENST00000374264.2_Missense_Mutation_p.D635N|SUSD1_ENST00000374263.3_Missense_Mutation_p.D635N	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	635						integral to membrane	calcium ion binding	p.D635N(2)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTTCAGAATCACAAGAAAAT	0.488000													14	137					0	0	0.132662	0	0
FOXI1	2299	broad.mit.edu	37	5	169533120	169533120	+	Silent	SNP	C	C	G	rs146116253		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:169533120C>G	ENST00000449804.2	+	1	204	c.159C>G	c.(157-159)ggC>ggG	p.G53G	FOXI1_ENST00000306268.6_Silent_p.G53G	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	53	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.G53G(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGGGGCGGCGAGTATGGGG	0.692000									Pendred syndrome				8	36					0	0	0.278610	0	0
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K														p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													4	103					0	0	0.184627	0	0
CA10	56934	broad.mit.edu	37	17	49710885	49710885	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:49710885G>T	ENST00000451037.2	-	8	1856	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	CA10_ENST00000442502.2_Missense_Mutation_p.Q306K|CA10_ENST00000285273.4_Missense_Mutation_p.Q306K|CA10_ENST00000340813.6_Missense_Mutation_p.Q312K|CA10_ENST00000570565.1_Missense_Mutation_p.Q231K	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	306					brain development			p.Q306K(2)		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)			TCCTTCCCCTGTAAACTGAAG	0.512000													22	75					4.4004e-07	5.22714e-07	0.279207	1	0
MSMO1	6307	broad.mit.edu	37	4	166258949	166258949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:166258949A>T	ENST00000261507.6	+	3	437	c.264A>T	c.(262-264)ccA>ccT	p.P88P	MSMO1_ENST00000504317.1_Silent_p.P88P|MSMO1_ENST00000393766.2_5'UTR	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	88					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.P88P(2)								NADH(DB00157)	AGGATAAGCCAGAGACATGGG	0.343000													9	82					0	0	0.058154	0	0
ADAM33	80332	broad.mit.edu	37	20	3654111	3654111	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:3654111G>T	ENST00000356518.2	-	11	1264	c.1023C>A	c.(1021-1023)gcC>gcA	p.A341A	ADAM33_ENST00000379861.4_Silent_p.A341A|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Silent_p.A341A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	341	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.A341A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGGCCATGGTGGCTGCGGCGC	0.741000													3	12					0.115264	0.117665	0.115264	1	0
FAT1	2195	broad.mit.edu	37	4	187538952	187538952	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:187538952C>A	ENST00000441802.2	-	10	8997	c.8788G>T	c.(8788-8790)Gat>Tat	p.D2930Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2930	Cadherin 27.				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	p.D2933Y(2)|p.D2930Y(2)		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						TGGGGGTCATCCTCACTCACA	0.463000										HNSCC(5;0.00058)			43	126					4.14194e-30	7.22688e-30	0.301197	1	0
PAPPA2	60676	broad.mit.edu	37	1	176734888	176734888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176734888G>T	ENST00000367662.3	+	15	5402	c.4238G>T	c.(4237-4239)gGc>gTc	p.G1413V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1413	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G1413V(2)		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						ACCTCTATAGGCCCAGGTCTC	0.522000													78	207					3.18133e-15	4.46449e-15	0.139131	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918110	51918110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:51918110C>A	ENST00000356298.5	-	8	1699	c.1583G>T	c.(1582-1584)gGg>gTg	p.G528V	SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G528V|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G470V	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	528					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.G528V(2)|p.G470V(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ACTCTGGGCCCCATGGACGTT	0.662000													51	152					6.9144e-35	1.23202e-34	0.139131	1	0
UBE2O	63893	broad.mit.edu	37	17	74395027	74395027	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:74395027C>T	ENST00000319380.7	-	10	1738	c.1674G>A	c.(1672-1674)atG>atA	p.M558I	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	558							ATP binding|ubiquitin-protein ligase activity	p.M558I(4)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CATCCTGCCACATCACGTCGG	0.622000													14	47					0	0	0.225048	0	0
KCNA1	3736	broad.mit.edu	37	12	5021590	5021590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:5021590C>A	ENST00000382545.3	+	2	2153	c.1046C>A	c.(1045-1047)gCg>gAg	p.A349E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	349					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.A349E(2)|p.A349V(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTGCCGAGGCGGAAGAAGCT	0.532000													64	153					1.88225e-35	3.40543e-35	0.139131	1	0
SLC14A2	8170	broad.mit.edu	37	18	43217060	43217060	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:43217060C>T	ENST00000255226.6	+	6	1572	c.756C>T	c.(754-756)ggC>ggT	p.G252G	SLC14A2_ENST00000586448.1_Silent_p.G252G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	252						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.G252G(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCACAGGCCACTACAACC	0.512000													40	87					0	0	0.246493	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131116	55131116	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:55131116C>G	ENST00000257290.5	+	5	990	c.659C>G	c.(658-660)gCt>gGt	p.A220G	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	220	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A220G(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAATGGAAGCTCTTAAAACC	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			78	112					0	0	0.139131	0	0
HMP19	51617	broad.mit.edu	37	5	173534364	173534364	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:173534364G>T	ENST00000303177.3	+	5	634	c.372G>T	c.(370-372)caG>caT	p.Q124H	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1												p.Q124H(2)									ACTCCTCCCAGGACCCCAATT	0.592000													24	111					6.44725e-10	8.17022e-10	0.249174	1	0
PLA2G5	5322	broad.mit.edu	37	1	20416375	20416375	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:20416375C>A	ENST00000375108.3	+	4	547	c.279C>A	c.(277-279)ggC>ggA	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582000													9	47					3.09899e-07	3.69615e-07	0.047766	1	0
GID8	54994	broad.mit.edu	37	20	61576189	61576189	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:61576189C>T	ENST00000266069.3	+	5	759	c.612C>T	c.(610-612)aaC>aaT	p.N204N		NM_017896.2	NP_060366.1			GID complex subunit 8									p.N204N(2)									GGGCTCAGAACGAGCTGGACC	0.473000													17	53					0	0	0.160694	0	0
NOS1	4842	broad.mit.edu	37	12	117715825	117715825	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:117715825C>T	ENST00000317775.6	-	9	2288	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	NOS1_ENST00000338101.4_Missense_Mutation_p.D535N|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	535					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D535N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTCAGGGTCATTGCCGTTG	0.602000													11	133					0	0	0.080935	0	0
SMCHD1	23347	broad.mit.edu	37	18	2698038	2698038	+	Splice_Site	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:2698038A>T	ENST00000320876.6	+	10	1679	c.1342_splice	c.e10+1	p.S447_splice	SMCHD1_ENST00000261598.8_Splice_Site_p.S447_splice|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	447					chromosome organization		ATP binding	p.S447S(4)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCTTTCCATCAAGTATGTTAA	0.333000													9	32					0	0	0.047766	0	0
ITGBL1	9358	broad.mit.edu	37	13	102367988	102367988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:102367988G>C	ENST00000376180.3	+	11	1688	c.1469G>C	c.(1468-1470)gGc>gCc	p.G490A	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G349A|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G397A	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	490	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.G490A(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTGGCTTGGCTCAGAATAT	0.383000													44	141					0	0	0.131918	0	0
PSD2	84249	broad.mit.edu	37	5	139193210	139193210	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:139193210C>T	ENST00000274710.3	+	3	893	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	230					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R230C(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCAGCCGCTCTGAGAA	0.632000													16	16					0	0	0.264190	0	0
SLIT3	6586	broad.mit.edu	37	5	168093656	168093656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:168093656G>T	ENST00000519560.1	-	36	4794	c.4375C>A	c.(4375-4377)Cgc>Agc	p.R1459S	SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466S|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1459	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R1459S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGCGGCGGATCACCTCT	0.607000													17	81					5.3912e-06	6.22795e-06	0.175082	1	0
CYP4F11	57834	broad.mit.edu	37	19	16025585	16025585	+	Silent	SNP	G	G	T	rs140718122		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:16025585G>T	ENST00000326742.7	-	9	1237	c.1236C>A	c.(1234-1236)cgC>cgA	p.R412R	CYP4F11_ENST00000402119.3_Silent_p.R412R|CYP4F11_ENST00000248041.7_Silent_p.R412R			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	412					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.R412R(2)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGGGGATGACGCGGCCGTCTG	0.632000													31	105					2.80507e-11	3.66529e-11	0.163468	1	0
ACTN2	88	broad.mit.edu	37	1	236902645	236902645	+	Missense_Mutation	SNP	G	G	T	rs112882610		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:236902645G>T	ENST00000366578.4	+	10	1086	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.R307L|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	307					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R307L(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTGGAGAACCGGACTCCCGAG	0.567000													53	60					5.99346e-17	8.78841e-17	0.139131	1	0
KIF17	57576	broad.mit.edu	37	1	21044096	21044096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:21044096G>C	ENST00000247986.2	-	1	414	c.104C>G	c.(103-105)gCc>gGc	p.A35G	KIF17_ENST00000400463.3_Missense_Mutation_p.A35G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	35	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.A35G(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCAGCACTGGGCGCGCGCGCA	0.692000													19	54					0	0	0.204396	0	0
AHR	196	broad.mit.edu	37	7	17375399	17375399	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:17375399G>C	ENST00000242057.4	+	9	1792	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	383	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.Q383H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTGTAACTCAGAGACCACTAA	0.348000													5	68					0	0	0.217242	0	0
VCAM1	7412	broad.mit.edu	37	1	101190255	101190255	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:101190255G>T	ENST00000294728.2	+	4	838	c.737G>T	c.(736-738)tGt>tTt	p.C246F	VCAM1_ENST00000370115.1_Missense_Mutation_p.C246F|VCAM1_ENST00000347652.2_Missense_Mutation_p.C246F|VCAM1_ENST00000370119.4_Missense_Mutation_p.C184F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	246	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.C246F(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCATGACCTGTTCCAGCGAG	0.413000													23	91					3.08376e-08	3.73866e-08	0.279207	1	0
MECOM	2122	broad.mit.edu	37	3	168840409	168840409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:168840409G>T	ENST00000464456.1	-	5	1573	c.373C>A	c.(373-375)Cat>Aat	p.H125N	MECOM_ENST00000494292.1_Missense_Mutation_p.H313N|MECOM_ENST00000433243.2_Missense_Mutation_p.H125N|MECOM_ENST00000472280.1_Missense_Mutation_p.H125N|MECOM_ENST00000392736.3_Missense_Mutation_p.H125N|MECOM_ENST00000460814.1_Missense_Mutation_p.H125N|MECOM_ENST00000264674.3_Missense_Mutation_p.H189N|MECOM_ENST00000468789.1_Missense_Mutation_p.H125N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.H125N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCACTGTCATGTGACATCTGG	0.433000													8	122					0.0477658	0.0491879	0.047766	1	0
SYT1	6857	broad.mit.edu	37	12	79679716	79679716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:79679716G>T	ENST00000261205.4	+	5	973	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	SYT1_ENST00000552744.1_Missense_Mutation_p.D106Y|SYT1_ENST00000393240.3_Missense_Mutation_p.D106Y|SYT1_ENST00000457153.2_Missense_Mutation_p.D106Y	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	106					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.D106Y(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAACATGAAAGATGTAAAAGA	0.303000													14	32					7.93312e-07	9.34805e-07	0.119110	1	0
HGFAC	3083	broad.mit.edu	37	4	3444869	3444869	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:3444869A>G	ENST00000382774.3	+	3	506	c.391A>G	c.(391-393)Aag>Gag	p.K131E	HGFAC_ENST00000511533.1_Missense_Mutation_p.K131E	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	131	Fibronectin type-II.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.K131E(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCACACAGGAAGTGGTGGGT	0.697000													5	22					0	0	0.217242	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374339	95374339	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:95374339C>A	ENST00000494840.1	-	0	1522					NR_077228.1																						ATGGGGTAGCCGGTAACATGG	0.433000													11	69					4.36969e-10	5.56142e-10	0.105934	1	0
CAPN13	92291	broad.mit.edu	37	2	30955354	30955354	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:30955354A>C	ENST00000295055.8	-	20	2053	c.1877T>G	c.(1876-1878)gTc>gGc	p.V626G	CAPN13_ENST00000534090.2_Missense_Mutation_p.V626G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	626					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.V626G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGGGAAGCTGACCCTGCCGAC	0.597000													3	8					0	0	0.093190	0	0
SLFN11	91607	broad.mit.edu	37	17	33687261	33687261	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:33687261C>A	ENST00000394566.1	-	5	1471		c.e5+1		SLFN11_ENST00000308377.4_Splice_Site	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11							nucleus	ATP binding	p.?(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCATAATTACCTGAAAATAA	0.393000													22	88					5.26018e-13	7.094e-13	0.234183	1	0
LONP2	83752	broad.mit.edu	37	16	48303939	48303939	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:48303939T>A	ENST00000285737.4	+	7	1088	c.995T>A	c.(994-996)aTt>aAt	p.I332N	LONP2_ENST00000535754.1_Missense_Mutation_p.I288N	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	332					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.I332N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CGCCTGGACATTAGGGCAGCC	0.378000													17	164					0	0	0.160694	0	0
INSC	387755	broad.mit.edu	37	11	15260554	15260554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:15260554G>T	ENST00000379554.3	+	11	1514	c.1468G>T	c.(1468-1470)Gct>Tct	p.A490S	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.A401S|INSC_ENST00000525218.1_Missense_Mutation_p.A401S|INSC_ENST00000530161.1_Missense_Mutation_p.A443S|INSC_ENST00000379556.3_Missense_Mutation_p.A443S|INSC_ENST00000528567.1_Missense_Mutation_p.A443S	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	490					cell differentiation|nervous system development	cytoplasm	binding	p.A490S(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCAGCAGAAAGCTGCAGTGAC	0.602000													16	49					0.00074312	0.000801752	0.175082	1	0
FAM83H	286077	broad.mit.edu	37	8	144808840	144808840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144808840G>T	ENST00000388913.3	-	5	2916	c.2791C>A	c.(2791-2793)Ccg>Acg	p.P931T		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	931					biomineral tissue development			p.P931T(2)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCGCTCCGGCACGGGGGGC	0.736000													5	15					0.000602214	0.000654532	0.184627	1	0
UBE4B	10277	broad.mit.edu	37	1	10238755	10238755	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:10238755A>T	ENST00000377157.3	+	25	3905	c.2844A>T	c.(2842-2844)gcA>gcT	p.A948A	UBE4B_ENST00000343090.6_Silent_p.A1193A|UBE4B_ENST00000253251.8_Silent_p.A1064A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1193					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.A1064A(2)|p.A1193A(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGCGGAAGGCAGGGATCAAAT	0.453000													11	54					0	0	0.069234	0	0
RGS22	26166	broad.mit.edu	37	8	101075826	101075826	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:101075826C>G	ENST00000360863.6	-	8	1364	c.1170G>C	c.(1168-1170)gaG>gaC	p.E390D	RGS22_ENST00000523437.1_Missense_Mutation_p.E378D|RGS22_ENST00000523287.1_Missense_Mutation_p.E209D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	390					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E390D(4)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCCAGCGCTCTCATTCTTTG	0.358000													20	155					0	0	0.249174	0	0
ADAD1	132612	broad.mit.edu	37	4	123336740	123336740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:123336740G>T	ENST00000296513.2	+	11	1641	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L	ADAD1_ENST00000388725.2_Missense_Mutation_p.V468L|ADAD1_ENST00000388724.2_Missense_Mutation_p.V475L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	486	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.V486L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTGGAGATTGTGGATGGCCT	0.333000													58	165					1.78197e-24	2.95154e-24	0.139131	1	0
NRG1	3084	broad.mit.edu	37	8	31498156	31498156	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:31498156C>A	ENST00000520407.1	+	1	886	c.656C>A	c.(655-657)gCg>gAg	p.A219E	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	602	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.A219E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACCAGCCGCGCGCCGGCCGCC	0.677000													6	14					3.59834e-05	4.03014e-05	0.217242	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008600	142008600	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142008600C>A	ENST00000390387.3	+	0	120																											AGCTGTTTCCCAGACTCCAAA	0.453000													39	25					7.04047e-22	1.1219e-21	0.225048	1	0
AHSG	197	broad.mit.edu	37	3	186335058	186335058	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:186335058G>C	ENST00000411641.2	+	4	711	c.492G>C	c.(490-492)gcG>gcC	p.A164A	AHSG_ENST00000273784.5_Silent_p.A165A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	164	Cystatin fetuin-A-type 2.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).	acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.A164A(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGCACGCCGCGAAAGCTGCCC	0.592000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	121					0	0	0.108266	0	0
IVL	3713	broad.mit.edu	37	1	152882785	152882785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152882785G>T	ENST00000368764.3	+	2	576	c.512G>T	c.(511-513)gGa>gTa	p.G171V	IVL_ENST00000392667.2_Missense_Mutation_p.G25V			P07476	INVO_HUMAN	involucrin	171	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.G171V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagcaggagggacagctgaag	0.622000													19	25					5.03518e-11	6.55019e-11	0.189662	1	0
TENM3	55714	broad.mit.edu	37	4	183651436	183651436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:183651436C>A	ENST00000511685.1	+	15	2792	c.2669C>A	c.(2668-2670)cCa>cAa	p.P890Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P890Q|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.P890Q(2)									TTCCATTACCCAGAATATGGA	0.418000													22	72					1.40151e-16	2.03478e-16	0.219247	1	0
PAPPA2	60676	broad.mit.edu	37	1	176709330	176709330	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176709330G>T	ENST00000367662.3	+	14	5313	c.4149G>T	c.(4147-4149)caG>caT	p.Q1383H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1383					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.Q1383H(2)		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						ATCAGGGACAGAGGTACAAAC	0.458000													19	71					5.03518e-11	6.55019e-11	0.189662	1	0
ABCC5	10057	broad.mit.edu	37	3	183667663	183667663	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:183667663C>A	ENST00000334444.6	-	22	3345	c.3105G>T	c.(3103-3105)ctG>ctT	p.L1035L	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1035	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L1035L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTCCCGAATCAGGACCCTGG	0.557000													30	77					8.58068e-18	1.27733e-17	0.125774	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317504	30317504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:30317504G>A	ENST00000375377.1	-	3	1674	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	525								p.Q525*(2)		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						TCAGGCCACTGTCCCCTTGCC	0.632000													65	219					0	0	0.139131	0	0
PRKDC	5591	broad.mit.edu	37	8	48775080	48775080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:48775080C>A	ENST00000314191.2	-	44	5826	c.5770G>T	c.(5770-5772)Gag>Tag	p.E1924*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1924*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1925					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.E1924*(2)|p.E1925*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCATGTTCTCTGTAAATGCA	0.458000								Non-homologous end-joining					7	14					0.0477658	0.0491879	0.047766	1	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													7	107					0	0	0.248553	0	0
OR10W1	81341	broad.mit.edu	37	11	58034677	58034677	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:58034677C>G	ENST00000395079.2	-	1	1055	c.654G>C	c.(652-654)aaG>aaC	p.K218N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K218N(2)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572000													10	31					0	0	0.119110	0	0
AOX1	316	broad.mit.edu	37	2	201533401	201533401	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:201533401C>A	ENST00000374700.2	+	33	3914	c.3673C>A	c.(3673-3675)Cag>Aag	p.Q1225K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1225					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.Q1225K(2)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTATTCTCCCCAGGGCATTCT	0.433000													67	105					9.41865e-53	1.75815e-52	0.139131	1	0
KCNH2	3757	broad.mit.edu	37	7	150645550	150645550	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:150645550G>C	ENST00000392968.2	-	9	3506	c.2386C>G	c.(2386-2388)Cgc>Ggc	p.R796G	KCNH2_ENST00000330883.4_Missense_Mutation_p.R552G|KCNH2_ENST00000262186.5_Missense_Mutation_p.R892G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	892					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.R892G(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTGCGCCTGCGGAAGGACAAC	0.647000													11	53					0	0	0.080935	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	9					0.150653	0.153526	0.150653	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078204	90078204	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:90078204G>T	ENST00000390270.2	+	0	338																											TGGCATCCCAGACAGGTTCAG	0.547000													32	87					2.20262e-25	3.67938e-25	0.173368	1	0
SMPD4	55627	broad.mit.edu	37	2	130910224	130910224	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:130910224C>T	ENST00000409031.1	-	20	3653	c.2505G>A	c.(2503-2505)ggG>ggA	p.G835G	SMPD4_ENST00000452225.2_Silent_p.G576G|SMPD4_ENST00000426662.2_Silent_p.G471G|SMPD4_ENST00000339679.7_Silent_p.G693G|SMPD4_ENST00000453750.1_Silent_p.G584G|SMPD4_ENST00000351288.6_Silent_p.G806G|SMPD4_ENST00000431183.2_Silent_p.G733G|SMPD4_ENST00000443958.2_Silent_p.G499G	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	796					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	p.G835G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGGGAGGGGCCCGACGCAGA	0.667000													4	6					0	0	0.217242	0	0
FAT4	79633	broad.mit.edu	37	4	126337745	126337745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:126337745G>C	ENST00000394329.3	+	6	6999	c.6986G>C	c.(6985-6987)cGc>cCc	p.R2329P	FAT4_ENST00000335110.5_Missense_Mutation_p.R627P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2329	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2329P(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAAGAGCGCTTTGTCTTA	0.428000													64	150					0	0	0.139131	0	0
NEFH	4744	broad.mit.edu	37	22	29886353	29886353	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr22:29886353G>A	ENST00000310624.6	+	4	2757	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	914	Tail.				cell death|nervous system development	neurofilament		p.K908K(2)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGAGGCTCCTG	0.498000													5	13					0	0	0.184627	0	0
SLC9A3	6550	broad.mit.edu	37	5	482774	482774	+	Silent	SNP	G	G	A	rs143761751		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:482774G>A	ENST00000264938.3	-	7	1254	c.1245C>T	c.(1243-1245)cgC>cgT	p.R415R	SLC9A3_ENST00000514375.1_Silent_p.R415R	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.R415R(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCACGGCCCCGCGCAGGCCCC	0.612000													6	56					0	0	0.217242	0	0
WNT1	7471	broad.mit.edu	37	12	49373354	49373354	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:49373354C>A	ENST00000293549.3	+	2	244	c.208C>A	c.(208-210)Cgt>Agt	p.R70S		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	70					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.R70S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAAACAGCGGCGTCTGATACG	0.592000													36	98					9.73076e-26	1.63477e-25	0.246493	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659372	176659372	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176659372A>T	ENST00000367662.3	+	5	3401	c.2237A>T	c.(2236-2238)aAa>aTa	p.K746I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.K746I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	746	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.K746I(4)		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						CATGTCTTTAAAGGAGTCAGT	0.547000													57	307					0	0	0.139131	0	0
SHANK1	50944	broad.mit.edu	37	19	51169662	51169662	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:51169662G>T	ENST00000293441.1	-	22	5573	c.5555C>A	c.(5554-5556)cCc>cAc	p.P1852H	SHANK1_ENST00000359082.3_Missense_Mutation_p.P1843H|SHANK1_ENST00000391813.1_Missense_Mutation_p.P1239H|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.P1860H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1852	Poly-Pro.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.P1852H(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAGGGCCCGGGCAGAGGTGG	0.677000													10	37					1.08611e-07	1.30067e-07	0.080935	1	0
ZNF114	163071	broad.mit.edu	37	19	48790040	48790040	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:48790040C>T	ENST00000595607.1	+	6	1653	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	ZNF114_ENST00000315849.1_Missense_Mutation_p.P387S|ZNF114_ENST00000600687.1_Missense_Mutation_p.P387S|ZNF114_ENST00000597695.1_Missense_Mutation_p.P353S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P387S(2)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGGAGAGAAACCCTATAAATG	0.408000													41	90					0	0	0.235728	0	0
IL4R	3566	broad.mit.edu	37	16	27374034	27374034	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:27374034A>T	ENST00000395762.2	+	11	1620	c.1361A>T	c.(1360-1362)aAg>aTg	p.K454M	IL4R_ENST00000543915.2_Missense_Mutation_p.K454M|IL4R_ENST00000380922.3_Missense_Mutation_p.K439M|IL4R_ENST00000170630.2_Missense_Mutation_p.K454M	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	454	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.K454M(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGGGCCCAAGGAGGCACCT	0.617000													51	86					0	0	0.139131	0	0
MAF1	84232	broad.mit.edu	37	8	145160669	145160669	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:145160669G>T	ENST00000534585.1	+	2	474	c.83_splice	c.e2+1	p.R28_splice	MAF1_ENST00000322428.5_Splice_Site_p.R28_splice|MAF1_ENST00000532522.1_Splice_Site_p.R28_splice			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	28					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.R28M(2)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	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;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCATTGGCAGGTGAGGCAGG	0.562000													23	49					4.15321e-07	4.9435e-07	0.144211	1	0
OR52B4	143496	broad.mit.edu	37	11	4389468	4389468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:4389468G>A	ENST00000408920.2	-	1	148	c.58C>T	c.(58-60)Cct>Tct	p.P20S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P20S(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTAGGCCAGGGATGCCCAGC	0.512000													11	39					0	0	0.093190	0	0
BMP10	27302	broad.mit.edu	37	2	69098254	69098254	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:69098254C>A	ENST00000295379.1	-	1	395	c.237G>T	c.(235-237)gtG>gtT	p.V79V		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	79					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.V79V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGGTGGGTCCACCTTGGCTG	0.468000													48	141					4.29476e-34	7.62936e-34	0.139131	1	0
DTX4	23220	broad.mit.edu	37	11	58949495	58949495	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:58949495A>T	ENST00000227451.3	+	2	599	c.495A>T	c.(493-495)acA>acT	p.T165T	DTX4_ENST00000532982.1_Silent_p.T59T	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	165					Notch signaling pathway	cytoplasm	zinc ion binding	p.T165T(2)|p.T59T(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCATGGTCACAGGGACCTTGC	0.637000													25	73					0	0	0.264190	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188891	11188891	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:11188891C>T	ENST00000382435.4	+	1	495	c.276C>T	c.(274-276)gaC>gaT	p.D92D		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	92	DUF6 1.					integral to membrane		p.D92D(2)									TGCGTGGCGACCCCCTTCTGG	0.592000													65	285					0	0	0.139131	0	0
CROCC	9696	broad.mit.edu	37	1	17281347	17281347	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:17281347A>G	ENST00000375541.5	+	23	3509	c.3440A>G	c.(3439-3441)aAg>aGg	p.K1147R		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1147					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GACCTGGGCAAGCAGCGGGAC	0.682000													3	5					0	0	0.150653	0	0
SRRM2	23524	broad.mit.edu	37	16	2818263	2818263	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:2818263G>T	ENST00000301740.8	+	11	8282		c.e11+1		SRRM2_ENST00000574593.1_Splice_Site	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2							Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.?(2)		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						CACTGAAGAGGTGAGGGAGCT	0.557000													39	42					1.96679e-08	2.39435e-08	0.279185	1	0
DDX58	23586	broad.mit.edu	37	9	32487951	32487951	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:32487951G>A	ENST00000379882.1	-	7	1226	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	DDX58_ENST00000379883.2_Silent_p.L402L|DDX58_ENST00000379868.1_Silent_p.L199L|DDX58_ENST00000542096.1_Silent_p.L331L|DDX58_ENST00000545044.1_Silent_p.L199L			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	402	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.L402L(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ACCTGGGGCAGTGGGCCTGAA	0.403000													37	106					0	0	0.214465	0	0
COL14A1	7373	broad.mit.edu	37	8	121170441	121170441	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:121170441G>C	ENST00000297848.3	+	3	431	c.161G>C	c.(160-162)aGa>aCa	p.R54T	COL14A1_ENST00000247781.3_Missense_Mutation_p.R54T|COL14A1_ENST00000537875.1_Missense_Mutation_p.R54T|COL14A1_ENST00000309791.4_Missense_Mutation_p.R54T|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	54	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R54T(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGCTCCAAGAGGGAAATTT	0.363000													21	57					0	0	0.204396	0	0
ANK2	287	broad.mit.edu	37	4	114274319	114274319	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:114274319C>G	ENST00000357077.4	+	38	4598	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I1482M|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1482					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.I1515M(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGATTTGATCAAAATGACCG	0.458000													27	114					0	0	0.125774	0	0
RSRC2	65117	broad.mit.edu	37	12	122990163	122990163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:122990163G>A	ENST00000331738.7	-	10	1361	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Nonsense_Mutation_p.Q358*	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	406								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		ATTTCATACTGAGCATCTAAA	0.393000													51	119					0	0	0.139131	0	0
CACNA1E	777	broad.mit.edu	37	1	181708286	181708286	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:181708286A>T	ENST00000526775.1	+	24	3724	c.3559A>T	c.(3559-3561)Ata>Tta	p.I1187L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1157L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1187L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1206L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1206L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I813L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1138L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1206					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1206L(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGCAGATGATAGACCAAGG	0.532000													34	185					0	0	0.203993	0	0
KRBOX1	100506243	broad.mit.edu	37	3	42982786	42982786	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:42982786C>A	ENST00000418176.1	+	2	2139	c.105C>A	c.(103-105)gcC>gcA	p.A35A	KRBOX1_ENST00000383748.4_Silent_p.A35A|KRBOX1_ENST00000426937.1_Silent_p.A35A|KRBOX1_ENST00000418093.2_3'UTR			C9JBD0	KRBX1_HUMAN	KRAB box domain containing 1	35	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.A35A(4)		lung(2)	2						TGGTGCCTGCCGAGAGGGCCT	0.537000													6	8					5.18039e-06	5.9962e-06	0.278610	1	0
ALS2CR11	151254	broad.mit.edu	37	2	202436667	202436667	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:202436667A>G	ENST00000439140.1	-	8	874	c.830T>C	c.(829-831)gTg>gCg	p.V277A	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.V277A|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.V277A|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.V277A	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	277								p.V277A(6)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CACTTACGTCACGGGATCTGT	0.348000													25	63					0	0	0.125774	0	0
CACNA2D1	781	broad.mit.edu	37	7	81594951	81594951	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:81594951C>A	ENST00000356860.3	-	32	2871	c.2533G>T	c.(2533-2535)Ggg>Tgg	p.G845W	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.G57W|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G857W	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	857						voltage-gated calcium channel complex	metal ion binding	p.G845W(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGAAGAAACCCACCATCATCC	0.373000													32	140					1.71298e-08	2.08969e-08	0.193644	1	0
OR2W1	26692	broad.mit.edu	37	6	29012092	29012092	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:29012092C>A	ENST00000377175.1	-	1	925	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287P(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGTAAATGAGCGGGTTGAGAC	0.423000													15	49					2.61681e-11	3.42692e-11	0.119110	1	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638159	19638159	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:19638159G>T	ENST00000555938.1	+	3	255	c.243G>T	c.(241-243)cgG>cgT	p.R81R	NDUFA13_ENST00000507754.3_Silent_p.R81R|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Silent_p.R81R|NDUFA13_ENST00000252576.5_Silent_p.R164R|NDUFA13_ENST00000503283.1_Silent_p.R81R														p.R164L(2)									AAACCGACCGGAGGTAGCACC	0.632000													6	39					0.00198382	0.00212088	0.248553	1	0
PRLR	5618	broad.mit.edu	37	5	35084585	35084585	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:35084585G>C	ENST00000382002.5	-	5	786	c.360C>G	c.(358-360)gaC>gaG	p.D120E	PRLR_ENST00000310101.5_Missense_Mutation_p.D120E|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.D120E|PRLR_ENST00000542609.1_Missense_Mutation_p.D120E|PRLR_ENST00000513753.1_Missense_Mutation_p.D120E|PRLR_ENST00000231423.3_Missense_Mutation_p.D120E|PRLR_ENST00000397391.3_Missense_Mutation_p.D49E|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	120	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.D120E(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTAAGTCACGTCCACATAAA	0.438000													84	307					0	0	0.139131	0	0
ZNF28	7576	broad.mit.edu	37	19	53311270	53311270	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:53311270C>A	ENST00000457749.2	-	3	251	c.132G>T	c.(130-132)ctG>ctT	p.L44L	ZNF28_ENST00000594602.1_Silent_p.L44L|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_Silent_p.L8L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L44L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CCAGGGAGACCAGGTTCCTAT	0.493000													48	114					1.86633e-21	2.96596e-21	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9071876	9071876	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:9071876A>G	ENST00000397910.4	-	3	15773	c.15570T>C	c.(15568-15570)ccT>ccC	p.P5190P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5190P(4)|p.P823P(2)		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						CTCTCAGTCTAGGAGTCAAGA	0.483000													112	241					0	0	0.139131	0	0
OR6X1	390260	broad.mit.edu	37	11	123624331	123624331	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:123624331A>G	ENST00000327930.2	-	1	922	c.896T>C	c.(895-897)tTa>tCa	p.L299S		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L299S(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCCTTTCTTAAGGCTCCCTT	0.378000													89	171					0	0	0.139131	0	0
OR2B11	127623	broad.mit.edu	37	1	247614966	247614966	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:247614966C>A	ENST00000318749.6	-	1	342	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V107F(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGTGGAAGACTGCATATTGC	0.592000													57	62					2.08929e-35	3.7684e-35	0.139131	1	0
ZNF516	9658	broad.mit.edu	37	18	74154334	74154334	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:74154334G>A	ENST00000443185.2	-	3	994	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A226V(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCCCCTGCGCGGTGATGTG	0.697000													11	42					0	0	0.093190	0	0
RASA3	22821	broad.mit.edu	37	13	114762162	114762162	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:114762162G>C	ENST00000334062.7	-	21	2107	c.1986C>G	c.(1984-1986)tgC>tgG	p.C662W	RASA3_ENST00000389544.4_Missense_Mutation_p.C630W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	662	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.C662W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGGCCTCCACGCAGTTGTTGG	0.607000													16	50					0	0	0.160694	0	0
KCNA4	3739	broad.mit.edu	37	11	30033978	30033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30033978C>T	ENST00000328224.6	-	2	1481	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R83Q(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCTCCTCCTCCGACTACCCCG	0.637000													29	82					0	0	0.163468	0	0
FSCB	84075	broad.mit.edu	37	14	44976031	44976031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:44976031C>A	ENST00000340446.4	-	1	451	c.160G>T	c.(160-162)Gag>Tag	p.E54*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	54						cilium		p.E54*(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCTGAAGCTCAGAAGATACT	0.413000													69	206					2.81305e-35	5.04291e-35	0.139131	1	0
ATAD3C	219293	broad.mit.edu	37	1	1403796	1403796	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:1403796G>C	ENST00000378785.2	+	12	2117	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	374							ATP binding|nucleoside-triphosphatase activity	p.L374L(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACGGGGTCCTGACCGAGGCCA	0.672000													9	36					0	0	0.080935	0	0
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:12758931C>A	ENST00000381774.4	-	4	997	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	CPPED1_ENST00000433677.2_Missense_Mutation_p.G111W|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	253							hydrolase activity|metal ion binding	p.G253W(2)|p.G253R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TAGGTACCCCCGGCATTCCTG	0.582000													56	51					2.74224e-37	4.99207e-37	0.139131	1	0
MPPED2	744	broad.mit.edu	37	11	30433103	30433103	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30433103G>A	ENST00000358117.5	-	6	919	c.797C>T	c.(796-798)aCg>aTg	p.T266M	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	266					nervous system development		hydrolase activity|metal ion binding	p.T266M(3)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATTGATGTACGTTGTGTAACC	0.463000													21	76					0	0	0.264190	0	0
KCNA4	3739	broad.mit.edu	37	11	30034116	30034116	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:30034116C>A	ENST00000328224.6	-	2	1343	c.110G>T	c.(109-111)aGg>aTg	p.R37M		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	37						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R37M(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGCAGCTGCCCTGGAGTGAGC	0.667000													12	50					1.50039e-11	1.96926e-11	0.234183	1	0
ZBTB47	92999	broad.mit.edu	37	3	42703101	42703101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:42703101C>T	ENST00000457842.3	+	3	1879	c.470C>T	c.(469-471)gCc>gTc	p.A157V	ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79V|ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533V	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A533V(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		TACACCATGGCCCACGTGCGT	0.522000													17	52					0	0	0.160694	0	0
NTRK3	4916	broad.mit.edu	37	15	88472600	88472600	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:88472600C>A	ENST00000394480.1	-	17	2276	c.1955G>T	c.(1954-1956)gGg>gTg	p.G652V	NTRK3_ENST00000542733.2_Missense_Mutation_p.G554V|NTRK3_ENST00000360948.2_Missense_Mutation_p.G652V|NTRK3_ENST00000355254.2_Missense_Mutation_p.G652V|NTRK3_ENST00000357724.2_Missense_Mutation_p.G644V|NTRK3_ENST00000558676.1_Missense_Mutation_p.G644V|NTRK3_ENST00000557856.1_Missense_Mutation_p.G644V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	652	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G652V(4)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGGAGAGCCCCAGCTCACC	0.612000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			19	23					2.5808e-16	3.72852e-16	0.175082	1	0
CSMD3	114788	broad.mit.edu	37	8	113657364	113657364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:113657364C>T	ENST00000297405.5	-	20	3528	c.3284G>A	c.(3283-3285)tGg>tAg	p.W1095*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1095*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W991*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1055*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1095	CUB 6.					integral to membrane|plasma membrane		p.W1095*(2)|p.W1055*(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCAACAGTCCATGTACAATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	52					0	0	0.279207	0	0
JADE2	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:133909338A>G	ENST00000395003.1	+	10	1617	c.1438A>G	c.(1438-1440)Aga>Gga	p.R480G	PHF15_ENST00000361895.2_Missense_Mutation_p.R480G|PHF15_ENST00000282605.4_Missense_Mutation_p.R480G|PHF15_ENST00000402835.1_Intron	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.R480G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512000													64	61					0	0	0.139131	0	0
KRT75	9119	broad.mit.edu	37	12	52827967	52827967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:52827967G>T	ENST00000252245.5	-	1	342	c.122C>A	c.(121-123)gCa>gAa	p.A41E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	41	Gly-rich.|Head.					keratin filament	structural molecule activity	p.A41E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ACTCCCTGCTGCAGAGCGGGC	0.667000													10	48					7.93312e-07	9.34805e-07	0.119110	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3447625	3447625	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:3447625T>C	ENST00000324266.5	+	6	1688	c.1493T>C	c.(1492-1494)cTg>cCg	p.L498P	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L498P|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	498							binding	p.L498P(2)									CAGGAGTCGCTGGATAGACTG	0.592000													16	41					0	0	0.189662	0	0
ASPM	259266	broad.mit.edu	37	1	197074309	197074309	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:197074309A>C	ENST00000367409.4	-	18	4328	c.4072T>G	c.(4072-4074)Tgg>Ggg	p.W1358G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1358	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.W1358G(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATCTTCTCCAATATCCCTGG	0.284000													26	116					0	0	0.279207	0	0
PLK4	10733	broad.mit.edu	37	4	128804445	128804445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:128804445G>T	ENST00000270861.5	+	3	429	c.155G>T	c.(154-156)gGa>gTa	p.G52V	PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000513090.1_Intron|PLK4_ENST00000515069.1_Missense_Mutation_p.G52V|PLK4_ENST00000507249.1_Missense_Mutation_p.G52V|PLK4_ENST00000514379.1_Missense_Mutation_p.G11V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	52	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G52V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TACAAAGCAGGAATGGTACAG	0.313000													8	40					0.0581538	0.0596761	0.058154	1	0
HMMR	3161	broad.mit.edu	37	5	162909666	162909666	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:162909666C>T	ENST00000416990.2	+	13	1556	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	HMMR_ENST00000393915.4_Silent_p.A468A|HMMR_ENST00000432118.2_Silent_p.A381A|HMMR_ENST00000353866.3_Silent_p.A452A|HMMR_ENST00000358715.3_Silent_p.A467A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	467						cell surface|cytoplasm	hyaluronic acid binding	p.A467A(2)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CGTTAACAGCCAGTGAGATAG	0.348000													17	80					0	0	0.160694	0	0
CACNG7	59284	broad.mit.edu	37	19	54445373	54445373	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:54445373C>T	ENST00000391767.1	+	6	866	c.654C>T	c.(652-654)cgC>cgT	p.R218R	CACNG7_ENST00000222212.2_Silent_p.R218R			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	218				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R218R(2)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTTCTACCGCCCGCGTCTCA	0.687000													30	63					0	0	0.144211	0	0
ZNF135	7694	broad.mit.edu	37	19	58579298	58579298	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:58579298C>A	ENST00000506786.1	+	5	1874	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	ZNF135_ENST00000439855.2_Silent_p.T482T|ZNF135_ENST00000511556.1_Silent_p.T494T|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.T482T|ZNF135_ENST00000401053.4_Silent_p.T506T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	494					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T506T(2)|p.T482T(2)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACACCTCACCCAACACCAGC	0.567000													15	62					2.32078e-09	2.89729e-09	0.132662	1	0
ZNF716	441234	broad.mit.edu	37	7	57529052	57529052	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:57529052C>A	ENST00000420713.1	+	4	997	c.885C>A	c.(883-885)ccC>ccA	p.P295P		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.P295P(4)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGAGAAACCCTACACATGTG	0.413000													14	21					9.31168e-06	1.06316e-05	0.105934	1	0
CCT6B	10693	broad.mit.edu	37	17	33266313	33266313	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:33266313T>A	ENST00000314144.5	-	10	1217	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	CCT6B_ENST00000421975.3_Missense_Mutation_p.N331Y|CCT6B_ENST00000436961.3_Missense_Mutation_p.N323Y	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	368					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	p.N368Y(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAGCAAGGGTTAACACACTCC	0.343000													50	119					0	0	0.139131	0	0
SKAP1	8631	broad.mit.edu	37	17	46247980	46247980	+	Nonsense_Mutation	SNP	G	G	A	rs142272724		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:46247980G>A	ENST00000336915.6	-	10	937	c.868C>T	c.(868-870)Cga>Tga	p.R290*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.R290*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	290	Interaction with FYB.				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	p.R290*(2)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CCTCCTTTTCGTCGAGTGCCA	0.413000													63	190					0	0	0.139131	0	0
CDH7	1005	broad.mit.edu	37	18	63547735	63547735	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:63547735G>T	ENST00000397968.2	+	12	2389	c.1963G>T	c.(1963-1965)Gac>Tac	p.D655Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D655Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D655Y(4)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGATACGATGACGAGGGCGG	0.493000													35	87					1.90571e-15	2.70014e-15	0.203993	1	0
FCRL5	83416	broad.mit.edu	37	1	157514076	157514076	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:157514076G>T	ENST00000361835.3	-	5	977	c.820C>A	c.(820-822)Ccg>Acg	p.P274T	FCRL5_ENST00000368189.3_Missense_Mutation_p.P274T|FCRL5_ENST00000356953.4_Missense_Mutation_p.P274T|FCRL5_ENST00000368191.3_Missense_Mutation_p.P189T|FCRL5_ENST00000368190.3_Missense_Mutation_p.P274T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	274						integral to membrane|plasma membrane	receptor activity	p.P274T(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGGATCTCGGGCTGTCAGAT	0.507000													230	120					1.50579e-86	2.86538e-86	0.139131	1	0
AGAP6	414189	broad.mit.edu	37	10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	259					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562000													70	159					1.09065e-72	2.05546e-72	0.139131	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47491246	47491246	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:47491246G>T	ENST00000404338.3	+	3	3827	c.3826_splice	c.e3-1	p.G1276_splice		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1276	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.G1276V(4)									TTCTCCTCAGGACTGAGCACG	0.552000													12	32					5.16669e-11	6.70643e-11	0.080935	1	0
CSMD3	114788	broad.mit.edu	37	8	113421167	113421167	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:113421167G>T	ENST00000297405.5	-	33	5734	c.5490C>A	c.(5488-5490)tcC>tcA	p.S1830S	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Silent_p.S1726S|CSMD3_ENST00000343508.3_Silent_p.S1790S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1830	CUB 10.					integral to membrane|plasma membrane		p.S1790S(2)|p.S1830S(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCTGAGAGGGAAGATAACA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	150					1.23103e-26	2.08601e-26	0.131918	1	0
EBF1	1879	broad.mit.edu	37	5	158135059	158135059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:158135059A>G	ENST00000313708.6	-	15	1954	c.1672T>C	c.(1672-1674)Ttc>Ctc	p.F558L	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.F527L|EBF1_ENST00000517373.1_Missense_Mutation_p.F490L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	558					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.F558L(2)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGTGCGAAAGCACTCTTC	0.622000			T	HMGA2	lipoma								8	9					0	0	0.069234	0	0
KCNU1	157855	broad.mit.edu	37	8	36691143	36691143	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:36691143C>G	ENST00000399881.3	+	11	1215	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	393	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S393C(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTTCTGGATCTGCAATGAAG	0.398000													10	61					0	0	0.069234	0	0
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:32209435C>A	ENST00000396193.1	-	3	863	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Q90H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTATCCAGCTGTGGCAATT	0.483000													58	66					1.60673e-49	2.97093e-49	0.139131	1	0
SCRIB	23513	broad.mit.edu	37	8	144886067	144886067	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:144886067C>A	ENST00000356994.2	-	23	3170	c.3164G>T	c.(3163-3165)gGg>gTg	p.G1055V	SCRIB_ENST00000320476.3_Missense_Mutation_p.G1055V|SCRIB_ENST00000377533.3_Missense_Mutation_p.G974V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1055	Interaction with ARHGEF7.|PDZ 3.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.G1055V(4)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GATGCGGTCCCCAACCCGCAG	0.711000													11	11					2.27111e-07	2.71425e-07	0.093190	1	0
THEMIS	387357	broad.mit.edu	37	6	128134882	128134882	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:128134882G>C	ENST00000368250.1	-	5	1165	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q267E|THEMIS_ENST00000368248.2_Missense_Mutation_p.Q302E|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q302E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	302	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.Q302E(2)		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						TTCCCAGGCTGTAAAATGCTT	0.398000													61	98					0	0	0.139131	0	0
SMARCC1	6599	broad.mit.edu	37	3	47663809	47663809	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:47663809C>G	ENST00000254480.5	-	25	2788	c.2669G>C	c.(2668-2670)aGa>aCa	p.R890T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	890					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.R890T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CTTGATCTTTCTTTCTTCCAC	0.378000													54	151					0	0	0.139131	0	0
PLXNC1	10154	broad.mit.edu	37	12	94613897	94613897	+	Silent	SNP	C	C	A	rs146510015		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:94613897C>A	ENST00000258526.4	+	6	1909	c.1660C>A	c.(1660-1662)Cgg>Agg	p.R554R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	554					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.R554R(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGCCCAACCGGACCTGCAC	0.458000													43	179					8.01111e-26	1.34972e-25	0.290176	1	0
NELL1	4745	broad.mit.edu	37	11	21592424	21592424	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:21592424G>T	ENST00000298925.5	+	19	2332	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C	NELL1_ENST00000532434.1_Missense_Mutation_p.G652C|NELL1_ENST00000357134.5_Missense_Mutation_p.G699C|NELL1_ENST00000325319.5_Missense_Mutation_p.G642C|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	699	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G699C(2)|p.G699S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGACCAAAATGGTCACAAGCT	0.473000													39	118					1.69901e-12	2.25004e-12	0.225048	1	0
ACSL5	51703	broad.mit.edu	37	10	114169302	114169302	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:114169302G>T	ENST00000393081.1	+	7	877	c.570G>T	c.(568-570)aaG>aaT	p.K190N	ACSL5_ENST00000356116.1_Missense_Mutation_p.K246N|ACSL5_ENST00000354655.4_Missense_Mutation_p.K190N|ACSL5_ENST00000433418.1_Missense_Mutation_p.K190N|ACSL5_ENST00000354273.4_Missense_Mutation_p.K190N	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	190					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.K246N(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCCAAAAGGCATTGGTGC	0.498000													33	115					1.99505e-19	3.04699e-19	0.163468	1	0
OXT	5020	broad.mit.edu	37	20	3052311	3052311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:3052311C>A	ENST00000217386.2	+	1	46	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	4					signal transduction		neurohypophyseal hormone activity	p.P4T(2)		lung(2)	2					Oxytocin(DB00107)	CATGGCCGGCCCCAGCCTCGC	0.692000													4	10					1.12685e-05	1.2816e-05	0.047766	1	0
CA10	56934	broad.mit.edu	37	17	49731069	49731069	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:49731069A>T	ENST00000451037.2	-	5	1434	c.494T>A	c.(493-495)cTa>cAa	p.L165Q	CA10_ENST00000442502.2_Missense_Mutation_p.L165Q|CA10_ENST00000285273.4_Missense_Mutation_p.L165Q|CA10_ENST00000340813.6_Missense_Mutation_p.L171Q|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Missense_Mutation_p.L90Q	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	165					brain development			p.L165Q(2)		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)			ATTCGTATATAGCTCATGGTT	0.408000													18	62					0	0	0.204396	0	0
PZP	5858	broad.mit.edu	37	12	9333633	9333633	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:9333633A>T	ENST00000261336.2	-	15	1813	c.1785T>A	c.(1783-1785)gcT>gcA	p.A595A	PZP_ENST00000381997.2_Silent_p.A464A	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.A595A(2)|p.A464A(2)		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						TTTGGTCCACAGCACGAAGGG	0.592000													17	53					0	0	0.189662	0	0
ABCA10	10349	broad.mit.edu	37	17	67186584	67186584	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:67186584C>A	ENST00000269081.4	-	19	2955	c.2046G>T	c.(2044-2046)caG>caT	p.Q682H	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	682					transport	integral to membrane	ATP binding|ATPase activity	p.Q682H(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCTTATGCCCTGGTCAGAAC	0.318000													17	68					6.49762e-13	8.66349e-13	0.175082	1	0
AHRR	57491	broad.mit.edu	37	5	434430	434430	+	Silent	SNP	G	G	A	rs111334085		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:434430G>A	ENST00000316418.5	+	12	1685	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P	AHRR_ENST00000512529.1_Silent_p.P375P|AHRR_ENST00000506456.1_Silent_p.P385P|AHRR_ENST00000505113.1_Silent_p.P529P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.P543P(2)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGTGTGGTCCGACGCTGCTGC	0.622000													24	68					0	0	0.264190	0	0
OR2L13	284521	broad.mit.edu	37	1	248263249	248263249	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:248263249C>A	ENST00000366478.2	+	3	909	c.572C>A	c.(571-573)aCt>aAt	p.T191N	OR2L13_ENST00000358120.2_Missense_Mutation_p.T191N	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.T191N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGTACAGATACTTGGGTCTAT	0.453000													6	306					4.096e-09	5.07042e-09	0.217242	1	0
BBS10	79738	broad.mit.edu	37	12	76740022	76740022	+	Silent	SNP	C	C	G	rs150530553		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:76740022C>G	ENST00000393262.3	-	2	1826	c.1743G>C	c.(1741-1743)ccG>ccC	p.P581P		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	581					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.P581P(2)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TACCCATATTCGGTAACTTAC	0.373000									Bardet-Biedl syndrome				36	95					0	0	0.214465	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786508	22786508	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr22:22786508C>T	ENST00000390301.2	+	0	98																											GTCCTGGGCCCAGTCTGTGCT	0.562000											OREG0026362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	36					0	0	0.125774	0	0
SLC24A3	57419	broad.mit.edu	37	20	19674054	19674054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:19674054C>A	ENST00000328041.6	+	13	1673	c.1476C>A	c.(1474-1476)taC>taA	p.Y492*	RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	492						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.Y492*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTCTCCTACATGATGGTGT	0.488000													24	75					1.10513e-12	1.46686e-12	0.249174	1	0
RUNX3	864	broad.mit.edu	37	1	25291042	25291042	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:25291042G>A	ENST00000399916.1	-	1	459	c.21C>T	c.(19-21)ttC>ttT	p.F7F	RUNX3_ENST00000338888.3_Silent_p.F7F	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	252					cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.F7F(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGAAGGAGTCGAAGATGCTGT	0.587000													5	19					0	0	0.217242	0	0
ERBB4	2066	broad.mit.edu	37	2	212578346	212578346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:212578346C>A	ENST00000342788.4	-	8	1221	c.911G>T	c.(910-912)tGt>tTt	p.C304F	ERBB4_ENST00000402597.1_Missense_Mutation_p.C304F|ERBB4_ENST00000436443.1_Missense_Mutation_p.C304F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	304	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	p.C304F(2)		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)		GGCACGCACACAAGAACTGGA	0.358000										TSP Lung(8;0.080)			21	37					4.54149e-19	6.88246e-19	0.249174	1	0
TCF23	150921	broad.mit.edu	37	2	27372190	27372190	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:27372190A>T	ENST00000296096.5	+	1	319	c.189A>T	c.(187-189)cgA>cgT	p.R63R	TCF23_ENST00000407815.3_3'UTR	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	63					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.R63R(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCCCTCGAGGGACCAGGG	0.632000													5	17					0	0	0.217242	0	0
CCDC171	203238	broad.mit.edu	37	9	15591483	15591483	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:15591483A>T	ENST00000380701.3	+	5	800	c.472A>T	c.(472-474)Atg>Ttg	p.M158L	CCDC171_ENST00000297641.3_Missense_Mutation_p.M158L|CCDC171_ENST00000535968.1_Missense_Mutation_p.M158L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	158	Glu-rich.							p.M158L(1)									AAGAGACAATATGATCCAAAA	0.318000													5	113					0	0	0.217242	0	0
NUP155	9631	broad.mit.edu	37	5	37341209	37341209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:37341209C>A	ENST00000231498.3	-	11	1432	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	NUP155_ENST00000381843.2_Missense_Mutation_p.R351I|NUP155_ENST00000513532.1_Missense_Mutation_p.R410I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	410					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.R410I(2)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAAGAGCTCTATGTACTTT	0.353000													16	58					1.5739e-10	2.02064e-10	0.146539	1	0
IRAK3	11213	broad.mit.edu	37	12	66620547	66620547	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:66620547A>T	ENST00000261233.4	+	7	1119	c.698A>T	c.(697-699)gAg>gTg	p.E233V	IRAK3_ENST00000457197.2_Missense_Mutation_p.E172V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	233	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.E233V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTTTACAGAGACTGAGAAG	0.348000													18	77					0	0	0.204396	0	0
KRT3	3850	broad.mit.edu	37	12	53189613	53189613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:53189613C>A	ENST00000417996.2	-	1	288	c.214G>T	c.(214-216)Gct>Tct	p.A72S	KRT3_ENST00000309505.3_Missense_Mutation_p.A72S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	72	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.A72S(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCGCCAGCTGCCACGCTG	0.657000													42	102					2.56175e-15	3.6036e-15	0.139131	1	0
RELN	5649	broad.mit.edu	37	7	103137039	103137039	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:103137039G>T	ENST00000428762.1	-	56	9286	c.9127C>A	c.(9127-9129)Ctg>Atg	p.L3043M	RELN_ENST00000424685.2_Missense_Mutation_p.L3043M|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.L3043M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3043					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.L3043M(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGTTGTCCAGTGCCCACTGA	0.468000													70	45					2.94884e-30	5.16047e-30	0.139131	1	0
L1TD1	54596	broad.mit.edu	37	1	62675610	62675610	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:62675610T>A	ENST00000498273.1	+	4	1459	c.1164T>A	c.(1162-1164)gaT>gaA	p.D388E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	388	Glu-rich.							p.D388E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGGAGCTGGATGAAGAGGCCT	0.488000													24	66					0	0	0.294199	0	0
CMTR2	55783	broad.mit.edu	37	16	71318653	71318653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:71318653C>A	ENST00000338099.5	-	3	1507	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E391*			Q8IYT2	FTSJ1_HUMAN		391						integral to membrane	methyltransferase activity|nucleic acid binding	p.E391*(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCAGCTTTTCTTGTTCCGCC	0.313000													23	39					9.95505e-16	1.41391e-15	0.249174	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147914552	147914552	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:147914552C>G	ENST00000361727.3	+	19	3699	c.3183C>G	c.(3181-3183)ccC>ccG	p.P1061P	CNTNAP2_ENST00000538075.1_Silent_p.P120P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1061	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1061P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGGCGCCCTGCATTCTCC	0.567000										HNSCC(39;0.1)			52	126					0	0	0.139131	0	0
HR	55806	broad.mit.edu	37	8	21977932	21977932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:21977932G>A	ENST00000381418.4	-	12	4179	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	HR_ENST00000312841.8_Missense_Mutation_p.A900V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	900							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.A900V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGCTCAGCGCCTGCACCTG	0.632000													44	133					0	0	0.131918	0	0
HMP19	51617	broad.mit.edu	37	5	173491286	173491286	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:173491286A>T	ENST00000303177.3	+	3	443	c.181A>T	c.(181-183)Aag>Tag	p.K61*	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Nonsense_Mutation_p.K61*	NM_015980.4	NP_057064.1												p.K61*(2)									GAACAAAGGGAAGTTCCGGGT	0.463000													44	54					0	0	0.279185	0	0
AMACR	23600	broad.mit.edu	37	5	33989433	33989433	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:33989433T>A	ENST00000335606.6	-	5	1002	c.914A>T	c.(913-915)cAt>cTt	p.H305L	AMACR_ENST00000502637.1_Missense_Mutation_p.H290L|AMACR_ENST00000382085.3_Missense_Mutation_p.H305L|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	305					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	p.H305L(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTGATCATGATGAACAACCTC	0.532000													60	69					0	0	0.139131	0	0
LPPR4	9890	broad.mit.edu	37	1	99771388	99771388	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:99771388A>G	ENST00000370185.3	+	7	1611	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	LPPR4_ENST00000370184.1_Missense_Mutation_p.T214A|LPPR4_ENST00000457765.1_Missense_Mutation_p.T314A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		372							phosphatidate phosphatase activity	p.T372A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATTGCTCATACAGAAGGCAT	0.468000													32	96					0	0	0.153744	0	0
WDR81	124997	broad.mit.edu	37	17	1640949	1640949	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:1640949A>T	ENST00000409644.1	+	10	5796	c.5796A>T	c.(5794-5796)tcA>tcT	p.S1932S	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Silent_p.S729S|WDR81_ENST00000309182.5_Silent_p.S881S|WDR81_ENST00000545662.1_Silent_p.S563S|WDR81_ENST00000419248.1_Silent_p.S705S|WDR81_ENST00000446363.1_Silent_p.S571S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	705								p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTGGGCTCAGACAACGGGG	0.652000													14	21					0	0	0.175082	0	0
OVCH1	341350	broad.mit.edu	37	12	29597135	29597135	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:29597135A>T	ENST00000318184.5	-	24	2959	c.2960T>A	c.(2959-2961)cTg>cAg	p.L987Q	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	987					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L987Q(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGCTTGGTCAGAAGAACATC	0.418000													76	188					0	0	0.139131	0	0
MED23	9439	broad.mit.edu	37	6	131937143	131937143	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:131937143C>A	ENST00000403834.3	-	10	954		c.e10-1		MED23_ENST00000368060.3_Splice_Site|MED23_ENST00000540546.1_Splice_Site|MED23_ENST00000368058.1_Splice_Site|MED23_ENST00000354577.4_Splice_Site|MED23_ENST00000539158.1_Splice_Site|MED23_ENST00000368053.4_Splice_Site|MED23_ENST00000368068.3_Splice_Site			Q9ULK4	MED23_HUMAN	mediator complex subunit 23						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.?(4)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CAAACAGATCCTTTAAAGAAA	0.338000													15	29					6.72482e-11	8.69054e-11	0.132662	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181953	140181953	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140181953C>A	ENST00000522353.2	+	1	1171	c.1171C>A	c.(1171-1173)Ccc>Acc	p.P391T	PCDHA3_ENST00000532566.2_Missense_Mutation_p.P391T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.P391T(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTGACGCCCCACGTCCC	0.567000													42	188					6.86731e-36	1.24629e-35	0.246493	1	0
SIDT2	51092	broad.mit.edu	37	11	117058369	117058369	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:117058369T>A	ENST00000324225.4	+	12	1644	c.1113T>A	c.(1111-1113)ggT>ggA	p.G371G	SIDT2_ENST00000431081.2_Silent_p.G375G	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	371						integral to membrane|lysosomal membrane		p.G371G(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTACCGATGGTCTGGTTGACA	0.612000													28	56					0	0	0.153744	0	0
OR11H6	122748	broad.mit.edu	37	14	20692109	20692109	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:20692109C>A	ENST00000315519.2	+	1	319	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTACATCCTTCTGGGAAACTT	0.463000													39	75					6.03168e-27	1.02801e-26	0.214465	1	0
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:56459349G>T	ENST00000291971.3	+	1	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W27C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	27						cytoplasm	ATP binding	p.W27C(2)|p.W27*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCGCCCTGGACATTCTCTT	0.512000													36	108					1.04352e-10	1.34264e-10	0.193644	1	0
CHST4	10164	broad.mit.edu	37	16	71571552	71571552	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:71571552C>A	ENST00000338482.5	+	3	1315	c.972C>A	c.(970-972)gcC>gcA	p.A324A	RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Silent_p.A324A|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.A324A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	324					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.A324A(2)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACACAAATGCCAGGGATGCCC	0.522000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	34					9.95505e-16	1.41391e-15	0.249174	1	0
VIT	5212	broad.mit.edu	37	2	37000953	37000953	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:37000953C>T	ENST00000379242.3	+	8	1001	c.699C>T	c.(697-699)acC>acT	p.T233T	VIT_ENST00000389975.3_Silent_p.T233T|VIT_ENST00000404084.1_Intron|VIT_ENST00000401530.1_Silent_p.T233T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Silent_p.T233T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	233						proteinaceous extracellular matrix		p.T233T(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACTGCCACCTACACAAGCA	0.403000													6	19					0	0	0.217242	0	0
TTN	7273	broad.mit.edu	37	2	179642042	179642042	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:179642042C>A	ENST00000589042.1	-	27	4872	c.4648G>T	c.(4648-4650)Gtg>Ttg	p.V1550L	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V1504L|TTN_ENST00000342175.6_Missense_Mutation_p.V1504L|TTN_ENST00000342992.6_Missense_Mutation_p.V1550L|TTN_ENST00000360870.5_Missense_Mutation_p.V1550L|TTN_ENST00000460472.2_Missense_Mutation_p.V1504L|TTN_ENST00000591111.1_Missense_Mutation_p.V1550L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1550							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V1504L(6)|p.V1550L(6)		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)			TGATGTTCCACAGCTGAAAGA	0.348000													31	61					5.77227e-19	8.72518e-19	0.134883	1	0
HGF	3082	broad.mit.edu	37	7	81331986	81331986	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:81331986G>T	ENST00000222390.5	-	18	2324	c.2098C>A	c.(2098-2100)Cca>Aca	p.P700T	HGF_ENST00000457544.2_Missense_Mutation_p.P695T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	700	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P700T(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGACGATTTGGAATGGCACAT	0.398000													59	58					2.43698e-19	3.71229e-19	0.139131	1	0
AK5	26289	broad.mit.edu	37	1	77987585	77987585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:77987585G>T	ENST00000344720.5	+	12	2333	c.1307G>T	c.(1306-1308)gGc>gTc	p.G436V	AK5_ENST00000354567.2_Missense_Mutation_p.G462V	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	462					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.G462V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTGATTGACGGCTATCCTCGG	0.577000													18	54					4.96729e-08	6.00981e-08	0.204396	1	0
VDR	7421	broad.mit.edu	37	12	48238559	48238559	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:48238559C>A	ENST00000229022.3	-	11	1535	c.1254G>T	c.(1252-1254)gtG>gtT	p.V418V	VDR_ENST00000550325.1_Silent_p.V468V|VDR_ENST00000549336.1_Silent_p.V418V|VDR_ENST00000395324.2_Silent_p.V418V|VDR_ENST00000535672.1_Silent_p.V386V	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	418	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	p.V418V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACACTTCGAGCACAAGGGGCG	0.632000													23	83					1.85244e-09	2.32246e-09	0.279207	1	0
ABCA13	154664	broad.mit.edu	37	7	48550739	48550739	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:48550739A>T	ENST00000435803.1	+	51	13608	c.13584A>T	c.(13582-13584)acA>acT	p.T4528T	ABCA13_ENST00000544596.1_Silent_p.T258T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4528					transport	integral to membrane	ATP binding|ATPase activity	p.T4473T(2)|p.T4528T(2)		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						TCCAGTTAACAGCTTTTACTT	0.458000													29	87					0	0	0.144211	0	0
PRRC1	133619	broad.mit.edu	37	5	126859188	126859188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:126859188G>C	ENST00000442138.2	+	2	163	c.17G>C	c.(16-18)gGa>gCa	p.G6A	PRRC1_ENST00000296666.8_Missense_Mutation_p.G6A|PRRC1_ENST00000512635.2_Missense_Mutation_p.G6A			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	6						Golgi apparatus		p.G6A(2)		endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAAGAGAGTGGAATAGAGACA	0.378000													12	45					0	0	0.080935	0	0
GPM6A	2823	broad.mit.edu	37	4	176573023	176573023	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:176573023A>T	ENST00000280187.7	-	5	548	c.503T>A	c.(502-504)gTg>gAg	p.V168E	GPM6A_ENST00000515090.1_Missense_Mutation_p.V161E|GPM6A_ENST00000393658.2_Missense_Mutation_p.V168E|GPM6A_ENST00000506894.1_Missense_Mutation_p.V157E	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	168						cell surface|integral to membrane		p.V168E(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TGCTCCCTCCACTAATGTGGT	0.458000													33	74					0	0	0.183431	0	0
MMP26	56547	broad.mit.edu	37	11	5011855	5011855	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:5011855G>A	ENST00000380390.1	+	4	564	c.348G>A	c.(346-348)aaG>aaA	p.K116K	MMP26_ENST00000300762.1_Silent_p.K116K			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	116					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K116K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGATATGAAGCCATCCGCAG	0.388000													15	90					0	0	0.132662	0	0
GPR128	84873	broad.mit.edu	37	3	100328780	100328780	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:100328780T>A	ENST00000273352.3	+	1	348	c.80T>A	c.(79-81)cTg>cAg	p.L27Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	27					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L27Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTTTGGGACTGGGCATCTGG	0.517000													41	76					0	0	0.290176	0	0
C14orf93	60686	broad.mit.edu	37	14	23468201	23468201	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:23468201G>A	ENST00000299088.6	-	2	461	c.32C>T	c.(31-33)cCt>cTt	p.P11L	C14orf93_ENST00000397382.4_Missense_Mutation_p.P11L|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.P11L|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000341470.4_Missense_Mutation_p.P11L|C14orf93_ENST00000397379.3_Missense_Mutation_p.P11L	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	11						extracellular region		p.P11L(2)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCCACTGGGAGGGGAGAAGAG	0.592000													25	92					0	0	0.193644	0	0
TLX3	30012	broad.mit.edu	37	5	170736451	170736451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:170736451G>T	ENST00000296921.5	+	1	164	c.82G>T	c.(82-84)Gac>Tac	p.D28Y		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	28						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D28Y(1)		central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAACAGCCCGGACCAGGACAG	0.766000			T	BCL11B	T-ALL								5	17					5.18039e-06	5.9962e-06	0.278610	1	0
NALCN	259232	broad.mit.edu	37	13	101997748	101997748	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:101997748G>T	ENST00000251127.6	-	7	749	c.668C>A	c.(667-669)gCt>gAt	p.A223D	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A223D	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	223						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.A223D(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTCTGGAATAGCTAAACTATT	0.398000													38	113					5.04308e-16	7.26797e-16	0.235728	1	0
TMEM2	23670	broad.mit.edu	37	9	74300223	74300223	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:74300223C>A	ENST00000377044.4	-	24	4581	c.4042G>T	c.(4042-4044)Gtg>Ttg	p.V1348L	TMEM2_ENST00000377066.5_Missense_Mutation_p.V1285L|TMEM2_ENST00000396272.3_Missense_Mutation_p.V341L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1348						integral to membrane		p.V1348L(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTCAAGCACCCCAAGGCCC	0.443000													34	77					9.78485e-24	1.61162e-23	0.173368	1	0
FSCB	84075	broad.mit.edu	37	14	44974151	44974151	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:44974151A>T	ENST00000340446.4	-	1	2331	c.2040T>A	c.(2038-2040)gcT>gcA	p.A680A		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	680	Ala-rich.					cilium		p.A680A(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTGAACTTCAGCAGGGGCCT	0.612000													14	61					0	0	0.146539	0	0
C5orf42	65250	broad.mit.edu	37	5	37184936	37184936	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:37184936C>G	ENST00000274258.7	-	25	4665	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1479Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1479Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1479										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GACAAAGCTTCAGAGAACGTA	0.393000													5	174					0	0	0.184627	0	0
ADORA1	134	broad.mit.edu	37	1	203134620	203134620	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:203134620C>T	ENST00000367236.4	+	3	1494	c.573C>T	c.(571-573)ccC>ccT	p.P191P	ADORA1_ENST00000309502.3_Silent_p.P191P|ADORA1_ENST00000337894.4_Silent_p.P191P|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	191					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.P191P(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GGGTGCTGCCCCCGCTTCTCC	0.567000													17	148					0	0	0.189662	0	0
SEMA7A	8482	broad.mit.edu	37	15	74707191	74707191	+	Silent	SNP	C	C	T	rs147975982		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:74707191C>T	ENST00000261918.4	-	9	1631	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SEMA7A_ENST00000543145.2_Silent_p.P347P|SEMA7A_ENST00000542748.1_Silent_p.P196P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	361	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.P361P(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TGCCAGGCCGCGGGTTGGGAA	0.627000													6	74					0	0	0.248553	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053711	35053711	+	Missense_Mutation	SNP	G	G	T	rs143845391		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:35053711G>T	ENST00000360359.3	+	22	3439	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1101						cytoplasm	protein binding	p.A1101S(1)|p.A427S(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGGAAATCCGCAGTACGTGG	0.622000													5	28					1.23904e-05	1.40377e-05	0.184627	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395969	38395969	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:38395969A>G	ENST00000377698.3	+	2	377	c.224A>G	c.(223-225)gAt>gGt	p.D75G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GACCGGGCTGATGTGGATCGG	0.642000													35	134					0	0	0.290176	0	0
KDM5B	10765	broad.mit.edu	37	1	202699059	202699059	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:202699059C>G	ENST00000367265.3	-	26	5437	c.4273G>C	c.(4273-4275)Gaa>Caa	p.E1425Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1461Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1425					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E1425Q(2)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTAACTCGTTCCCACCGCTCA	0.478000													158	123					0	0	0.139131	0	0
HNF4A	3172	broad.mit.edu	37	20	43034856	43034856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:43034856C>A	ENST00000316099.3	+	2	363	c.274C>A	c.(274-276)Cac>Aac	p.H92N	HNF4A_ENST00000457232.1_Missense_Mutation_p.H70N|HNF4A_ENST00000415691.1_Missense_Mutation_p.H92N|HNF4A_ENST00000443598.2_Missense_Mutation_p.H92N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	92					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.H92N(4)|p.H70N(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGAAGAACCACATGTACTC	0.607000													16	43					2.32078e-09	2.89729e-09	0.132662	1	0
UBE3B	89910	broad.mit.edu	37	12	109936051	109936051	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:109936051T>C	ENST00000342494.3	+	11	1428	c.833T>C	c.(832-834)tTa>tCa	p.L278S	UBE3B_ENST00000280774.5_Missense_Mutation_p.L278S|UBE3B_ENST00000434735.2_Missense_Mutation_p.L278S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	278					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.L278S(2)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCACTGTTTTAGAATCCCAT	0.413000													56	135					0	0	0.139131	0	0
AIDA	64853	broad.mit.edu	37	1	222849448	222849448	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:222849448A>T	ENST00000340020.6	-	7	779	c.573T>A	c.(571-573)gtT>gtA	p.V191V	AIDA_ENST00000541237.1_Silent_p.V167V|AIDA_ENST00000355727.2_Intron|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	191	Axin-binding (By similarity).				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CCTTTACACTAACTGTAATAT	0.398000													5	118					0	0	0.184627	0	0
GRSF1	2926	broad.mit.edu	37	4	71691024	71691024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:71691024C>A	ENST00000254799.6	-	8	1499	c.1382G>T	c.(1381-1383)cGg>cTg	p.R461L	GRSF1_ENST00000545193.1_Missense_Mutation_p.R343L|GRSF1_ENST00000502323.1_Missense_Mutation_p.R299L|GRSF1_ENST00000439371.1_Missense_Mutation_p.R299L|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	461	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R461L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AACGTGGGACCGATCCTTGAG	0.443000													21	20					2.39556e-15	3.37792e-15	0.264190	1	0
FMNL1	752	broad.mit.edu	37	17	43320574	43320574	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:43320574C>A	ENST00000331495.3	+	17	2436	c.2100C>A	c.(2098-2100)gcC>gcA	p.A700A	FMNL1_ENST00000587489.1_Silent_p.A278A|FMNL1_ENST00000328118.3_Silent_p.A700A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	700	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.A700A(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTAAGGCAGCCCAGAAGGCCC	0.597000													40	115					3.09479e-21	4.89176e-21	0.246493	1	0
BSN	8927	broad.mit.edu	37	3	49691797	49691797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:49691797C>T	ENST00000296452.4	+	5	4922	c.4808C>T	c.(4807-4809)tCt>tTt	p.S1603F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1603					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.S1603F(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCGAGTGTGTCTCAGCTGCCC	0.642000													16	50					0	0	0.160694	0	0
SETMAR	6419	broad.mit.edu	37	3	4358118	4358118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:4358118G>T	ENST00000358065.4	+	3	1310	c.1243G>T	c.(1243-1245)Gac>Tac	p.D415Y	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.D276Y	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	402	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	p.D402Y(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		agttgacaacgaccagttgag	0.468000								Chromatin Structure					6	3					0.00198382	0.00212088	0.248553	1	0
CRB1	23418	broad.mit.edu	37	1	197390141	197390141	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:197390141G>A	ENST00000367400.3	+	6	1318	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	CRB1_ENST00000367399.2_Missense_Mutation_p.E283K|CRB1_ENST00000538660.1_Missense_Mutation_p.E395K|CRB1_ENST00000543483.1_Missense_Mutation_p.E94K|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.E326K|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	395	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.E395K(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCCACTGCGAAGAAGACGT	0.343000													32	233					0	0	0.193644	0	0
DPP6	1804	broad.mit.edu	37	7	153584797	153584797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:153584797C>T	ENST00000404039.1	+	1	616	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.A10V(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCAAGACCGCTAAGATGCAG	0.577000													13	47					0	0	0.160694	0	0
PTPRN2	5799	broad.mit.edu	37	7	157997861	157997861	+	Splice_Site	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:157997861A>C	ENST00000389413.3	-	4	484		c.e4+1		PTPRN2_ENST00000389418.4_Splice_Site|PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTCCACACTTACCTGGCTGGG	0.488000													21	63					0	0	0.279207	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081590	143081590	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:143081590G>A	ENST00000367603.2	-	9	6577	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S	HIVEP2_ENST00000012134.2_Silent_p.S1945S|HIVEP2_ENST00000367604.1_Silent_p.S1945S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1945S(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCACAGGCAAGGAGGAGAATC	0.463000													18	89					0	0	0.175082	0	0
FLNA	2316	broad.mit.edu	37	X	153588257	153588257	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:153588257G>C	ENST00000422373.1	-	23	4070	c.3822C>G	c.(3820-3822)gcC>gcG	p.A1274A	FLNA_ENST00000369850.3_Silent_p.A1274A|FLNA_ENST00000344736.4_Silent_p.A1274A|FLNA_ENST00000360319.4_Silent_p.A1274A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1274					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.A1274A(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCAGTGGTGGCCTCACGGA	0.657000													43	62					0	0	0.279185	0	0
EPHX1	2052	broad.mit.edu	37	1	226016497	226016497	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:226016497A>C	ENST00000366837.4	+	2	263	c.67A>C	c.(67-69)Aaa>Caa	p.K23Q	EPHX1_ENST00000272167.5_Missense_Mutation_p.K23Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	23					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.K23Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCGGGACAAAGAGGAAAC	0.562000													48	57					0	0	0.139131	0	0
SYT11	23208	broad.mit.edu	37	1	155851156	155851156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:155851156G>A	ENST00000368324.4	+	4	1406	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	SYT11_ENST00000539162.1_Missense_Mutation_p.D78N	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	385	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.D385N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TATCGACTTCGATCGCACCAC	0.542000													46	793					0	0	0.139131	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567728	99567728	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:99567728G>C	ENST00000331335.5	-	5	3262	c.2792C>G	c.(2791-2793)aCg>aGg	p.T931R	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T691R|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.T931R|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T691R|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T507R	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	931						cytoplasm|membrane|myosin complex|nucleus		p.T931R(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGCAGTACTCGTGTAAGAGTG	0.473000													105	301					0	0	0.139131	0	0
NBPF1	55672	broad.mit.edu	37	1	16892902	16892902	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:16892902C>A	ENST00000430580.2	-	26	3779		c.e26+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 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)		CTCAAAGTTACCTGGGGCATG	0.413000													17	978					1.22574e-08	1.50781e-08	0.249174	1	0
MMP17	4326	broad.mit.edu	37	12	132335487	132335487	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:132335487C>T	ENST00000360564.1	+	10	1582	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	MMP17_ENST00000535291.1_Missense_Mutation_p.R410C|MMP17_ENST00000535004.1_Missense_Mutation_p.R34C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	494	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R494C(2)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTACTTCTTCCGTGGCCAGGA	0.657000													12	37					0	0	0.132662	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090337	238090337	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:238090337C>G	ENST00000450451.1	+	0	1843					NR_027247.2																						CCTGAAGTACCCCATTGAGCA	0.607000													19	22					0	0	0.189662	0	0
NUDT16	131870	broad.mit.edu	37	3	131101022	131101022	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:131101022G>A	ENST00000359850.3	+	2	311	c.172G>A	c.(172-174)Gag>Aag	p.E58K	NUDT16_ENST00000537561.1_Missense_Mutation_p.E45K|NUDT16_ENST00000502852.1_Missense_Mutation_p.E91K|NUDT16_ENST00000521288.1_Missense_Mutation_p.E91K	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	91	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	p.E58K(2)		large_intestine(1)|lung(6)	7						TTTCCGCGTGGAGCGCACTGA	0.672000													16	42					0	0	0.173368	0	0
NCF1B	654816	broad.mit.edu	37	7	72645953	72645953	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:72645953G>A	ENST00000423083.1	+	0	988					NR_003186.1																						GACGGCTGGTGGGTCATCAGG	0.612000													30	28					0	0	0.153744	0	0
FER	2241	broad.mit.edu	37	5	108281839	108281839	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:108281839G>T	ENST00000281092.4	+	11	1629	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	FER_ENST00000536402.1_Missense_Mutation_p.R311M|FER_ENST00000438717.2_Missense_Mutation_p.K240N	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	415					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.K415N(2)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGGAAAGAAAGGAGAGGCTAT	0.373000													71	75					5.79337e-17	8.51625e-17	0.139131	1	0
MED12L	116931	broad.mit.edu	37	3	151101922	151101922	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:151101922G>A	ENST00000474524.1	+	33	4775	c.4737G>A	c.(4735-4737)acG>acA	p.T1579T	MED12L_ENST00000273432.4_Silent_p.T1439T|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1579					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.T1579T(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAATGGAACGTTAGCCTCTG	0.353000													6	109					0	0	0.217242	0	0
ZNF23	7571	broad.mit.edu	37	16	71482343	71482343	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:71482343C>A	ENST00000393539.2	-	6	2398	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	ZNF23_ENST00000428724.2_Nonsense_Mutation_p.E471*|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.E529*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.E529*|ZNF23_ENST00000564528.1_Nonsense_Mutation_p.E471*|AC010547.9_ENST00000561908.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E529*(2)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAAGGTTTCTCCCCAGTATGT	0.418000													39	52					3.21399e-22	5.1354e-22	0.214465	1	0
GAREM	64762	broad.mit.edu	37	18	29867330	29867330	+	Silent	SNP	C	C	A	rs146498252		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:29867330C>A	ENST00000399218.4	-	4	1285	c.1230G>T	c.(1228-1230)ggG>ggT	p.G410G	GAREM_ENST00000269209.6_Silent_p.G410G	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.G410G(2)									CCCAATCTCCCCCCAGGTCCC	0.537000													31	113					2.61193e-14	3.59676e-14	0.144211	1	0
LAMA1	284217	broad.mit.edu	37	18	7015801	7015801	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:7015801A>T	ENST00000389658.3	-	22	3139	c.3046T>A	c.(3046-3048)Tgc>Agc	p.C1016S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1016	Laminin EGF-like 11.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.C1016S(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGGGGGGCAGACACACTCT	0.552000													32	111					0	0	0.235728	0	0
NUTM1	256646	broad.mit.edu	37	15	34640257	34640257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:34640257C>A	ENST00000537011.1	+	3	570	c.188C>A	c.(187-189)tCt>tAt	p.S63Y	NUTM1_ENST00000333756.4_Missense_Mutation_p.S35Y|NUTM1_ENST00000438749.3_Missense_Mutation_p.S53Y					NUT midline carcinoma, family member 1									p.S35Y(2)									CCACCAACTTCTGACCCACCA	0.572000													40	111					2.54651e-27	4.35275e-27	0.246493	1	0
LRRC32	2615	broad.mit.edu	37	11	76371973	76371973	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:76371973C>A	ENST00000407242.2	-	3	906	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	LRRC32_ENST00000260061.5_Missense_Mutation_p.V222L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.V222L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	222						integral to plasma membrane		p.V222L(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGTCTAGCACCCGCAGCTGC	0.622000													22	58					5.26018e-13	7.094e-13	0.234183	1	0
DOCK2	1794	broad.mit.edu	37	5	169494661	169494661	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:169494661G>T	ENST00000256935.8	+	45	4695	c.4615G>T	c.(4615-4617)Gtc>Ttc	p.V1539F	DOCK2_ENST00000520908.1_Missense_Mutation_p.V1031F|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.V600F	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1539	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.V1539F(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACCCTGCTGTCATGGGAGG	0.547000													14	123					4.36969e-10	5.56142e-10	0.105934	1	0
STXBP5L	9515	broad.mit.edu	37	3	120973837	120973837	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:120973837G>T	ENST00000273666.6	+	16	1808	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	STXBP5L_ENST00000497029.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D513Y|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D513Y	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	513					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.D513Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTAGAGGAAGACCCATTTGC	0.363000													19	53					6.44725e-10	8.17022e-10	0.249174	1	0
DOPEY2	9980	broad.mit.edu	37	21	37664514	37664514	+	Missense_Mutation	SNP	C	C	G	rs34428315		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr21:37664514C>G	ENST00000399151.3	+	36	6713	c.6628C>G	c.(6628-6630)Cta>Gta	p.L2210V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2210					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.L2210V(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTAGAACTTCTAAAATTAAA	0.428000													32	73					0	0	0.153744	0	0
PTBP2	58155	broad.mit.edu	37	1	97278637	97278637	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:97278637A>T	ENST00000236228.6	+	13	1523	c.1441A>T	c.(1441-1443)Act>Tct	p.T481S	PTBP2_ENST00000370198.1_Missense_Mutation_p.T486S|PTBP2_ENST00000394184.3_Missense_Mutation_p.T497S|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.T486S|PTBP2_ENST00000426398.2_Missense_Mutation_p.T481S	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	481	RRM 4.						nucleotide binding	p.T481S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CACTGGGGGCACTGTGAAAGC	0.333000													32	110					0	0	0.163468	0	0
LRRC49	54839	broad.mit.edu	37	15	71305143	71305143	+	Splice_Site	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:71305143G>C	ENST00000260382.5	+	14	1854	c.1593_splice	c.e14-1	p.V532_splice	LRRC49_ENST00000560691.1_Splice_Site_p.V238_splice|LRRC49_ENST00000544974.2_Splice_Site_p.V522_splice|LRRC49_ENST00000443425.2_Splice_Site_p.V488_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Splice_Site_p.V537_splice|LRRC49_ENST00000560158.2_Splice_Site_p.V220_splice	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	532						cytoplasm|microtubule		p.V532L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCTCTTCAGGTGACACAGAA	0.373000													39	107					0	0	0.246493	0	0
PPP5C	5536	broad.mit.edu	37	19	46878954	46878954	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:46878954G>T	ENST00000012443.4	+	3	560	c.457G>T	c.(457-459)Gcg>Tcg	p.A153S	PPP5C_ENST00000391919.1_Missense_Mutation_p.A47S	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	153					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.A153S(2)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCGGGCCATCGCGGGCGACGA	0.582000													13	26					9.05144e-12	1.19601e-11	0.105934	1	0
ALPK1	80216	broad.mit.edu	37	4	113350384	113350384	+	Missense_Mutation	SNP	C	C	T	rs34120296		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:113350384C>T	ENST00000458497.1	+	10	1154	c.875C>T	c.(874-876)aCg>aTg	p.T292M	ALPK1_ENST00000177648.9_Missense_Mutation_p.T292M|ALPK1_ENST00000504176.2_Missense_Mutation_p.T214M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	292			T -> M (in dbSNP:rs34120296).				ATP binding|protein serine/threonine kinase activity	p.T292M(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGTGCCTATACGCCGCTCTTC	0.557000													46	124					0	0	0.139131	0	0
TRPS1	7227	broad.mit.edu	37	8	116430678	116430678	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:116430678C>T	ENST00000395715.3	-	6	3280	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	TRPS1_ENST00000520276.1_Silent_p.R892R|TRPS1_ENST00000220888.5_Silent_p.R888R|TRPS1_ENST00000519076.1_Silent_p.R642R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888			T -> P (in TRPS3; severe).		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCCTCTACGCCTCTGAAACA	0.473000									Langer-Giedion syndrome				35	105					0	0	0.214465	0	0
GPX7	2882	broad.mit.edu	37	1	53073948	53073948	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:53073948G>A	ENST00000361314.4	+	3	453	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	139					response to oxidative stress	extracellular region	glutathione peroxidase activity	p.E139K(2)		breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	TTCTGGGAAGGAGCCCACCTG	0.552000													25	88					0	0	0.099896	0	0
NMS	129521	broad.mit.edu	37	2	101093867	101093867	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:101093867T>A	ENST00000376865.1	+	5	259	c.252T>A	c.(250-252)gtT>gtA	p.V84V		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	84					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.V84V(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CACATCCAGTTAAAACTGGGG	0.368000													9	33					0	0	0.080935	0	0
IL6ST	3572	broad.mit.edu	37	5	55248180	55248180	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:55248180C>A	ENST00000381298.2	-	12	1763		c.e12-1		IL6ST_ENST00000381287.4_Splice_Site|IL6ST_ENST00000502326.3_Splice_Site|IL6ST_ENST00000336909.5_Splice_Site|IL6ST_ENST00000381294.3_Splice_Site|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_Splice_Site|IL6ST_ENST00000536319.1_Splice_Site|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)						interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTAAGTTCCCTAAAGCAAGA	0.333000			O		hepatocellular ca								4	121					0.014758	0.0154133	0.184627	1	0
AGAP11	119385	broad.mit.edu	37	10	88769369	88769369	+	RNA	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:88769369C>G	ENST00000444431.1	+	0	3969				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCTGGGCCAGCACCTGCTGCG	0.607000													48	143					0	0	0.139131	0	0
KNTC1	9735	broad.mit.edu	37	12	123041966	123041966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:123041966G>T	ENST00000333479.7	+	17	1485	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	KNTC1_ENST00000450485.2_Missense_Mutation_p.E399D	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	436					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.E436D(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATATTGGAGAAACTGGCAT	0.383000													13	72					1.5842e-08	1.94065e-08	0.105934	1	0
COL3A1	1281	broad.mit.edu	37	2	189875383	189875383	+	Missense_Mutation	SNP	G	G	T	rs140646380	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:189875383G>T	ENST00000304636.3	+	50	4191	c.4021G>T	c.(4021-4023)Ggc>Tgc	p.G1341C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1038C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1341	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G1341C(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTTTAGCTACGGCAATCCTGA	0.408000													48	119					7.77372e-23	1.25921e-22	0.139131	1	0
GIT1	28964	broad.mit.edu	37	17	27910597	27910597	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:27910597C>A	ENST00000225394.3	-	2	338	c.90G>T	c.(88-90)gtG>gtT	p.V30V	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.V30V|GIT1_ENST00000579937.1_Silent_p.V30V|GIT1_ENST00000581348.1_Silent_p.V30V	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	30	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	p.V30V(4)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ACTCGTCACACACCAGCACAC	0.657000													6	18					0.217242	0.221001	0.217242	1	0
CHD6	84181	broad.mit.edu	37	20	40042045	40042045	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:40042045C>T	ENST00000373233.3	-	35	7227	c.7050G>A	c.(7048-7050)gaG>gaA	p.E2350E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2350					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.E2350E(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAATGGATTTCTCGGCTTGGC	0.592000													4	37					0	0	0.217242	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396022	1396022	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:1396022G>T	ENST00000324385.5	+	24	2507	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	BAIAP3_ENST00000568887.1_Silent_p.L720L|BAIAP3_ENST00000562208.1_Silent_p.L725L|BAIAP3_ENST00000397488.2_Silent_p.L765L|BAIAP3_ENST00000397489.1_Silent_p.L765L|BAIAP3_ENST00000426824.3_Silent_p.L748L|BAIAP3_ENST00000421665.2_Silent_p.L712L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	783	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.L783L(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				ATACGGAGCTGCTTCGGAAGA	0.682000													5	23					0.000602214	0.000654532	0.184627	1	0
HIPK2	28996	broad.mit.edu	37	7	139285223	139285223	+	Missense_Mutation	SNP	C	C	A	rs56132157		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:139285223C>A	ENST00000406875.3	-	11	2469	c.2375G>T	c.(2374-2376)cGg>cTg	p.R792L	HIPK2_ENST00000342645.6_Missense_Mutation_p.R792L|HIPK2_ENST00000428878.2_Missense_Mutation_p.R765L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	792	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		R -> Q.		apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R792L(4)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGCTGCTGCCGCATCACGTG	0.567000													13	80					1.5842e-08	1.94065e-08	0.105934	1	0
PCCA	5095	broad.mit.edu	37	13	100809550	100809550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:100809550G>T	ENST00000376285.1	+	6	462	c.424G>T	c.(424-426)Ggt>Tgt	p.G142C	PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376286.4_Missense_Mutation_p.G116C|PCCA_ENST00000376279.3_Missense_Mutation_p.G142C	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	142	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.G142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGTACATCCAGGTTATGGATT	0.308000													16	58					1.67942e-08	2.05301e-08	0.175082	1	0
KDR	3791	broad.mit.edu	37	4	55961743	55961743	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:55961743C>A	ENST00000263923.4	-	20	3113		c.e20+1			NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)						angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGACATACCTTGTAGGGG	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			19	86					1.2644e-06	1.48397e-06	0.219247	1	0
TENM1	10178	broad.mit.edu	37	X	124097430	124097430	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:124097430T>G	ENST00000422452.2	-	1	236	c.173A>C	c.(172-174)aAt>aCt	p.N58T	TENM1_ENST00000371130.3_Missense_Mutation_p.N58T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.N58T(2)									ACTCTGGCTATTGTAATTCAT	0.368000													132	221					0	0	0.139131	0	0
NLRP12	91662	broad.mit.edu	37	19	54304481	54304481	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:54304481C>A	ENST00000324134.6	-	7	2924	c.2756_splice	c.e7+1	p.R919_splice	NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000345770.5_Splice_Site_p.R920_splice|NLRP12_ENST00000391773.1_Splice_Site_p.R920_splice|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000535162.1_Splice_Site_p.R919_splice|NLRP12_ENST00000391775.3_Splice_Site_p.R919_splice|NLRP12_ENST00000391772.1_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	919					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R919L(2)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGGACTCACCGCAGGGTCTG	0.617000													17	65					2.4624e-09	3.06756e-09	0.204396	1	0
FHL5	9457	broad.mit.edu	37	6	97052766	97052766	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:97052766C>T	ENST00000326771.2	+	4	680	c.300C>T	c.(298-300)tcC>tcT	p.S100S	FHL5_ENST00000541107.1_Silent_p.S100S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	100	LIM zinc-binding 1.					nucleus	zinc ion binding	p.S100S(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGTGCTCCTCCAAGTGCTTCC	0.512000													39	73					0	0	0.257332	0	0
STXBP5	134957	broad.mit.edu	37	6	147680270	147680270	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:147680270A>C	ENST00000367481.3	+	21	2356	c.2248A>C	c.(2248-2250)Att>Ctt	p.I750L	STXBP5_ENST00000179882.6_Missense_Mutation_p.I441L|STXBP5_ENST00000321680.6_Missense_Mutation_p.I786L|STXBP5_ENST00000367480.3_Missense_Mutation_p.I733L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	786					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.I786L(2)|p.I750L(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTAACAAGCATTGACAAAGA	0.418000													10	60					0	0	0.069234	0	0
NUF2	83540	broad.mit.edu	37	1	163317609	163317609	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:163317609G>C	ENST00000271452.3	+	12	1284	c.1005G>C	c.(1003-1005)aaG>aaC	p.K335N	NUF2_ENST00000367900.3_Missense_Mutation_p.K335N|NUF2_ENST00000524800.1_Missense_Mutation_p.K288N	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	335	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.K335N(4)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGAAATTGAAGACTGAAGAAA	0.333000													9	88					0	0	0.047766	0	0
MTUS2	23281	broad.mit.edu	37	13	30066847	30066847	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:30066847G>C	ENST00000431530.3	+	10	3658	c.3600G>C	c.(3598-3600)ctG>ctC	p.L1200L	MTUS2_ENST00000542829.1_Silent_p.L79L|MTUS2_ENST00000380808.2_Silent_p.L169L	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1190						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.L1200L(2)|p.L169L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGCGGCTGTCATTGCAGG	0.363000													18	57					0	0	0.204396	0	0
ELK3	2004	broad.mit.edu	37	12	96653534	96653534	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:96653534C>T	ENST00000228741.3	+	4	1354	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	ELK3_ENST00000552142.1_Missense_Mutation_p.P78L|ELK3_ENST00000549529.1_3'UTR	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	343					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P343L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTTCTGACTCCGAGTCCACTG	0.527000													5	155					0	0	0.184627	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369202	20369202	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:20369202G>T	ENST00000593655.1	-	0	199																											TGAAATCAAGGATCTTATGGT	0.388000													26	86					1.66031e-10	2.12693e-10	0.294199	1	0
DLGAP2	9228	broad.mit.edu	37	8	1581027	1581027	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:1581027C>A	ENST00000421627.2	+	5	1519	c.1385C>A	c.(1384-1386)tCc>tAc	p.S462Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	541					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S506Y(2)|p.S484Y(2)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAATTCGAGTCCGTGTGCGAG	0.567000													8	21					0.000274275	0.000301446	0.047766	1	0
TCHH	7062	broad.mit.edu	37	1	152082789	152082789	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152082789C>G	ENST00000368804.1	-	2	2903	c.2904G>C	c.(2902-2904)caG>caC	p.Q968H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	968	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.Q968H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcttccttctgctgcagct	0.567000													15	522					0	0	0.119110	0	0
RYR1	6261	broad.mit.edu	37	19	38939385	38939385	+	Missense_Mutation	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:38939385T>G	ENST00000355481.4	+	11	1185	c.1054T>G	c.(1054-1056)Tca>Gca	p.S352A	RYR1_ENST00000360985.3_Missense_Mutation_p.S352A|RYR1_ENST00000359596.3_Missense_Mutation_p.S352A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	352	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S352A(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCATGTGGCCTCAGGACTGTG	0.617000													42	104					0	0	0.290176	0	0
FUT1	2523	broad.mit.edu	37	19	49253722	49253722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:49253722C>A	ENST00000310160.3	-	4	1791	c.817G>T	c.(817-819)Gac>Tac	p.D273Y		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	273					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	p.D273Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGGAGGTGTCGATGTTTTCT	0.587000													64	186					3.8688e-20	5.98646e-20	0.139131	1	0
SPAG17	200162	broad.mit.edu	37	1	118539080	118539080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:118539080G>A	ENST00000336338.5	-	34	5031	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1656						cilium|flagellar axoneme|microtubule		p.R1656*(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACTGTCTCGAAGAAGTTCC	0.358000													34	109					0	0	0.183431	0	0
RTN1	6252	broad.mit.edu	37	14	60072161	60072161	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:60072161C>A	ENST00000267484.5	-	5	2372	c.2037G>T	c.(2035-2037)ctG>ctT	p.L679L	RTN1_ENST00000342503.4_Silent_p.L111L|RTN1_ENST00000395090.1_Silent_p.L96L|RTN1_ENST00000557422.1_Intron	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	679	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.L679L(2)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGTAGAACTGCAGGCAGTCCG	0.473000													26	56					1.38267e-23	2.26465e-23	0.108266	1	0
FREM1	158326	broad.mit.edu	37	9	14812842	14812842	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:14812842A>T	ENST00000380881.4	-	17	3679	c.2864T>A	c.(2863-2865)gTt>gAt	p.V955D	FREM1_ENST00000380880.3_Missense_Mutation_p.V954D|FREM1_ENST00000422223.2_Missense_Mutation_p.V954D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	954					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.V955D(2)		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)		CTCTGAGATAACATCTCTCTG	0.507000													64	209					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179398197	179398197	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:179398197A>G	ENST00000589042.1	-	358	103369	c.103145T>C	c.(103144-103146)tTt>tCt	p.F34382S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F25442S|TTN_ENST00000342175.6_Missense_Mutation_p.F25509S|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F31814S|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F25317S|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F32741S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32741							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F25317S(2)|p.F25509S(2)|p.F31814S(2)|p.F31812S(2)|p.F25442S(2)		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)			TCTGATCTCAAAGCAGACACT	0.473000													32	50					0	0	0.173368	0	0
APBA1	320	broad.mit.edu	37	9	72082745	72082745	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:72082745C>A	ENST00000265381.4	-	5	1698	c.1476G>T	c.(1474-1476)agG>agT	p.R492S	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	492	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.R492S(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTTGATCCTGCTTACGG	0.527000													20	116					9.95505e-16	1.41391e-15	0.249174	1	0
CACNA1E	777	broad.mit.edu	37	1	181686252	181686252	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:181686252A>T	ENST00000526775.1	+	11	1504	c.1339A>T	c.(1339-1341)Atc>Ttc	p.I447F	CACNA1E_ENST00000357570.5_Missense_Mutation_p.I398F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I447F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I447F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I447F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I54F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I398F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	447					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I447F(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGCCAGTATCAAAAGTGC	0.512000													31	123					0	0	0.144211	0	0
AS3MT	57412	broad.mit.edu	37	10	104638636	104638636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:104638636G>C	ENST00000369880.3	+	9	850	c.773G>C	c.(772-774)cGc>cCc	p.R258P	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	258					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	p.R258P(2)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCAACATTTCGCCTCTTCAAA	0.413000													30	86					0	0	0.153744	0	0
F5	2153	broad.mit.edu	37	1	169519136	169519136	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:169519136T>A	ENST00000367796.3	-	10	1715	c.1514A>T	c.(1513-1515)tAc>tTc	p.Y505F	F5_ENST00000367797.3_Missense_Mutation_p.Y505F|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	505	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.Y505F(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCACTGTAGTATGGTCTTGT	0.443000													52	137					0	0	0.139131	0	0
CA11	770	broad.mit.edu	37	19	49142169	49142169	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:49142169G>T	ENST00000084798.4	-	8	1616	c.937C>A	c.(937-939)Cga>Aga	p.R313R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	313						extracellular region		p.R313R(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TTGGGGCCTCGGCAGCGCCTC	0.637000													9	26					6.40141e-05	7.12884e-05	0.080935	1	0
SIGLECL1	284369	broad.mit.edu	37	19	51768891	51768891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:51768891C>A	ENST00000316401.7	+	3	673	c.292C>A	c.(292-294)Cta>Ata	p.L98I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.L98I(2)									TTTGAGCATCCTACTGATGTC	0.537000													36	126					2.19358e-23	3.58285e-23	0.225048	1	0
ADAM18	8749	broad.mit.edu	37	8	39581361	39581361	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:39581361C>A	ENST00000265707.5	+	19	2157	c.2112C>A	c.(2110-2112)acC>acA	p.T704T	ADAM18_ENST00000379866.1_Silent_p.T680T|ADAM18_ENST00000541111.1_Silent_p.T118T|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	704					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.T704T(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAGTTTTCACCACTGTGATCT	0.308000													41	129					2.19489e-29	3.80706e-29	0.235728	1	0
OVCH2	341277	broad.mit.edu	37	11	7716867	7716867	+	RNA	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:7716867C>A	ENST00000454689.1	-	0	1215				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)									p.D406Y(2)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TCTGTGGCATCAGAGACGAAT	0.448000													11	27					6.42651e-13	8.60772e-13	0.080935	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													6	78					0	0	0.217242	0	0
MON2	23041	broad.mit.edu	37	12	62929426	62929426	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:62929426C>T	ENST00000393630.3	+	14	2228	c.1837C>T	c.(1837-1839)Ctg>Ttg	p.L613L	MON2_ENST00000280379.6_Silent_p.L613L|MON2_ENST00000393632.2_Silent_p.L613L|MON2_ENST00000552738.1_Intron|MON2_ENST00000393629.2_Silent_p.L613L|MON2_ENST00000546600.1_Silent_p.L613L|MON2_ENST00000552115.1_Silent_p.L613L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	613					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.L613L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAAAGGTTCCCTGCCTCCCCA	0.408000													41	110					0	0	0.246493	0	0
TCF12	6938	broad.mit.edu	37	15	57212142	57212142	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:57212142A>T	ENST00000267811.5	+	2	335	c.31A>T	c.(31-33)Ata>Tta	p.I11L	TCF12_ENST00000438423.2_Missense_Mutation_p.I11L|TCF12_ENST00000333725.5_Missense_Mutation_p.I11L|TCF12_ENST00000557843.1_Missense_Mutation_p.I11L|TCF12_ENST00000452095.2_Missense_Mutation_p.I11L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	11					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	p.I11L(6)	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)		CATGGCCGCTATAGGGACCGA	0.547000			T	TEC	extraskeletal myxoid chondrosarcoma								16	73					0	0	0.160694	0	0
TARS2	80222	broad.mit.edu	37	1	150470105	150470105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:150470105G>A	ENST00000369064.3	+	10	1154	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.D292N|TARS2_ENST00000369054.2_Missense_Mutation_p.D244N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	374					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.D374N(2)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTATCAGGAAGACATGTTTGC	0.547000													15	106					0	0	0.189662	0	0
DNAH5	1767	broad.mit.edu	37	5	13820609	13820609	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:13820609C>A	ENST00000265104.4	-	41	6792		c.e41-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(2)		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)					CTTCTTCAACCTGAAAACATA	0.507000									Kartagener syndrome				20	100					1.96292e-10	2.50913e-10	0.219247	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762209	130762209	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:130762209G>T	ENST00000392429.1	+	2	3020	c.642G>T	c.(640-642)tcG>tcT	p.S214S	TMEM200A_ENST00000545622.1_Silent_p.S214S|TMEM200A_ENST00000296978.3_Silent_p.S214S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	214						integral to membrane		p.S214S(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTCTTTCTCGGGTTTTCGGA	0.478000													23	21					1.10513e-12	1.46686e-12	0.249174	1	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													3	14					0	0	0.184627	0	0
COL26A1	136227	broad.mit.edu	37	7	101183242	101183242	+	RNA	SNP	T	T	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:101183242T>G	ENST00000313669.7	+	0	708				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.T172T(2)									CCGAGAGCACTCCGCCGACCT	0.657000													23	15					0	0	0.108266	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519237	48519237	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:48519237G>T	ENST00000339841.2	+	4	474	c.296G>T	c.(295-297)tGg>tTg	p.W99L	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	99	Fibronectin type-II 2.				single fertilization	extracellular region		p.W99L(2)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGCAGTCTGTGGTGCTCAGTC	0.507000													24	89					3.08376e-08	3.73866e-08	0.279207	1	0
GALR1	2587	broad.mit.edu	37	18	74963084	74963084	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:74963084C>A	ENST00000299727.3	+	1	580	c.580C>A	c.(580-582)Cct>Act	p.P194T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTGGCCCGACCCTCGCCACAA	0.662000													26	90					7.68411e-24	1.26917e-23	0.134883	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45711253	45711253	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:45711253C>A	ENST00000310806.4	-	4	1585	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	376					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.G376V(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTTTTAAGTCCATTTGTAAC	0.318000													34	115					5.91797e-21	9.27937e-21	0.163468	1	0
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	G	T	rs35379048	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:7585490G>T	ENST00000379802.3	+	24	8336	c.7995G>T	c.(7993-7995)acG>acT	p.T2665T	DSP_ENST00000418664.2_Silent_p.T2066T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2665	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.T2665T(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCCAACCACGGGCCAGAAGC	0.577000													76	92					4.75426e-39	8.68169e-39	0.139131	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72165754	72165754	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:72165754C>T	ENST00000555818.1	+	11	3779	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S619F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1144F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1144F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1144					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1144F(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTAGCAAGATCCCAGTGTCGG	0.488000													34	125					0	0	0.163468	0	0
USP29	57663	broad.mit.edu	37	19	57641790	57641790	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57641790C>A	ENST00000254181.4	+	4	2201	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	USP29_ENST00000598197.1_Missense_Mutation_p.L583M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	583					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L583M(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCAATGAAGCTGACCTCAGA	0.483000													34	92					3.90053e-15	5.46074e-15	0.163468	1	0
FBXW5	54461	broad.mit.edu	37	9	139836896	139836896	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:139836896T>C	ENST00000325285.3	-	6	777	c.698A>G	c.(697-699)aAc>aGc	p.N233S	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	233							catalytic activity|protein binding	p.N233S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CTTCACCACGTTGACGTTCTC	0.697000													6	74					0	0	0.278610	0	0
TLE3	7090	broad.mit.edu	37	15	70353100	70353100	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:70353100C>G	ENST00000442299.2	-	8	1707	c.589G>C	c.(589-591)Gct>Cct	p.A197P	TLE3_ENST00000558939.1_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000559929.1_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	197	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A197P(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAAGAGAAGCTGaactcctc	0.582000													5	21					0	0	0.217242	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111590	142111590	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142111590G>T	ENST00000390378.1	-	0	145																											GGACACACTGGTGTGCCCAGA	0.527000													85	64					7.29696e-51	1.35351e-50	0.139131	1	0
COL22A1	169044	broad.mit.edu	37	8	139890364	139890364	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:139890364C>A	ENST00000303045.6	-	3	733	c.287G>T	c.(286-288)gGc>gTc	p.G96V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G96V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	96	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G96V(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCCTGCGAGCCAAAGAGTCC	0.692000										HNSCC(7;0.00092)			3	19					6.4e-05	7.12884e-05	0.115264	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128842434	128842434	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:128842434G>A	ENST00000310343.9	-	21	3924	c.3925C>T	c.(3925-3927)Ccg>Tcg	p.P1309S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P960S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P960S|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1309	Poly-Pro.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.P1309S(2)|p.P960S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGGAAGGCGGAGGGGGAAGG	0.537000													40	74					0	0	0.225048	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766283	77766283	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:77766283G>C	ENST00000521891.2	+	10	7574	c.7126G>C	c.(7126-7128)Gct>Cct	p.A2376P	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2331P|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2350P|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2331P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2331	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A2360P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAACGCTGCTGCCCC	0.512000										HNSCC(33;0.089)			30	78					0	0	0.144211	0	0
SDK2	54549	broad.mit.edu	37	17	71397871	71397871	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:71397871G>A	ENST00000392650.3	-	20	2701	c.2701C>T	c.(2701-2703)Ctg>Ttg	p.L901L	SDK2_ENST00000388726.3_Silent_p.L901L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	901	Fibronectin type-III 4.				cell adhesion	integral to membrane		p.L901L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGAAGCTCAGGTGTCCCACG	0.577000													3	9					0	0	0.115264	0	0
OR51F2	119694	broad.mit.edu	37	11	4842710	4842710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:4842710C>A	ENST00000322110.5	+	1	160	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P32Q(2)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGCATTCCAGGCCTGAAA	0.473000													116	265					1.43268e-76	2.71746e-76	0.139131	1	0
TTN	7273	broad.mit.edu	37	2	179629388	179629388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:179629388C>A	ENST00000589042.1	-	42	10078	c.9854G>T	c.(9853-9855)tGc>tTc	p.C3285F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C3239F|TTN_ENST00000342175.6_Missense_Mutation_p.C3239F|TTN_ENST00000342992.6_Missense_Mutation_p.C3285F|TTN_ENST00000360870.5_Missense_Mutation_p.C3285F|TTN_ENST00000460472.2_Missense_Mutation_p.C3239F|TTN_ENST00000591111.1_Missense_Mutation_p.C3285F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3014	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C3285F(6)|p.C3239F(6)		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)			AAGAAATTTGCACTTGAAGCC	0.493000													80	134					3.33531e-57	6.26569e-57	0.139131	1	0
TKTL2	84076	broad.mit.edu	37	4	164394019	164394019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:164394019G>T	ENST00000280605.3	-	1	1028	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	290						cytoplasm	metal ion binding|transketolase activity	p.P290T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCGATTTTGGTATGAGATTC	0.408000													75	304					2.24367e-16	3.24946e-16	0.139131	1	0
THUMPD1	55623	broad.mit.edu	37	16	20748250	20748250	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:20748250T>A	ENST00000381337.2	-	4	1358	c.1014A>T	c.(1012-1014)gcA>gcT	p.A338A	THUMPD1_ENST00000431224.2_Silent_p.A424A|THUMPD1_ENST00000396083.2_Silent_p.A338A	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	338								p.A338A(2)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGGCTTGACTTGCAAGTTCAG	0.478000													16	56					0	0	0.234183	0	0
FRAS1	80144	broad.mit.edu	37	4	79402985	79402985	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:79402985A>G	ENST00000264895.6	+	57	8911	c.8471A>G	c.(8470-8472)cAt>cGt	p.H2824R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2819	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.H2824R(2)|p.H2825R(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTATCCGCCATGGTACTGAC	0.478000													154	233					0	0	0.139131	0	0
GRK5	2869	broad.mit.edu	37	10	121140407	121140407	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:121140407C>A	ENST00000392870.2	+	3	558	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	GRK5_ENST00000369108.3_5'UTR	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	77	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.L77M(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGGCCTGGGCTGGAGTGTTA	0.498000													32	98					1.23537e-32	2.17485e-32	0.203993	1	0
C15orf26	161502	broad.mit.edu	37	15	81436103	81436103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:81436103G>T	ENST00000286732.4	+	5	661	c.578G>T	c.(577-579)tGg>tTg	p.W193L		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	193								p.W193L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAACTGCTGGCAGGCTGCC	0.537000													61	183					2.30037e-20	3.57835e-20	0.139131	1	0
MYO15A	51168	broad.mit.edu	37	17	18023924	18023924	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:18023924G>A	ENST00000205890.5	+	2	2148	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	604	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E604K(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGTCAGGGAGGCGGCCTA	0.697000													3	8					0	0	0.150653	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008704	88008704	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:88008704C>G	ENST00000276127.4	+	3	548	c.289C>G	c.(289-291)Ccc>Gcc	p.P97A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P97A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	97						intracellular	zinc ion binding	p.P97A(2)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GACCCCCATTCCCAGAAAATT	0.413000													10	33					0	0	0.069234	0	0
SENP2	59343	broad.mit.edu	37	3	185341817	185341817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:185341817A>T	ENST00000296257.5	+	15	1798	c.1558A>T	c.(1558-1560)Aga>Tga	p.R520*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.R510*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.R344*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	520	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	p.R520*(2)|p.K520*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAAGACCAAAAGAAATAGTGA	0.343000													29	83					0	0	0.134883	0	0
GP5	2814	broad.mit.edu	37	3	194118069	194118069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:194118069G>A	ENST00000401815.1	-	1	1014	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	GP5_ENST00000323007.3_Missense_Mutation_p.R315C			P40197	GPV_HUMAN	glycoprotein V (platelet)	315					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.R315C(4)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCGCAGGCGGCTCAGGTTG	0.726000													7	17					0	0	0.119110	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140799011	140799011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:140799011G>T	ENST00000398594.2	+	1	1585	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1												p.E529*(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACCTTCGAGCTCACGCT	0.697000													71	74					1.17253e-29	2.03979e-29	0.139131	1	0
FAM179A	165186	broad.mit.edu	37	2	29274652	29274652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:29274652C>A	ENST00000379558.4	+	20	3104	c.2753C>A	c.(2752-2754)cCt>cAt	p.P918H	FAM179A_ENST00000403861.2_Missense_Mutation_p.P863H|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	918							binding	p.P918H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCCGGAAGCCTCAAGCTGTA	0.612000													3	2					6.4e-05	7.12884e-05	0.115264	1	0
ITM2B	9445	broad.mit.edu	37	13	48835306	48835306	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:48835306C>T	ENST00000378565.5	+	6	950	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ITM2B_ENST00000378549.5_Silent_p.F143F	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	249					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	p.F249F(2)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		GCAATTGTTTCGCAATTCGGC	0.284000													11	94					0	0	0.093190	0	0
CDHR2	54825	broad.mit.edu	37	5	176011426	176011426	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:176011426T>A	ENST00000510636.1	+	19	2418	c.2144T>A	c.(2143-2145)gTg>gAg	p.V715E	CDHR2_ENST00000506348.1_Missense_Mutation_p.V715E|CDHR2_ENST00000261944.5_Missense_Mutation_p.V715E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	715	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.V715E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTAGTGGGCGTGGTGAAGGCC	0.617000													29	221					0	0	0.116897	0	0
OCA2	4948	broad.mit.edu	37	15	28230275	28230275	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:28230275C>A	ENST00000354638.3	-	13	1454	c.1299G>T	c.(1297-1299)gcG>gcT	p.A433A	OCA2_ENST00000382996.2_Silent_p.A433A|OCA2_ENST00000353809.5_Silent_p.A409A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.A433A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGGACGGCCGCGATGAGAC	0.602000									Oculocutaneous Albinism				17	44					1.33834e-09	1.6851e-09	0.189662	1	0
KIF21A	55605	broad.mit.edu	37	12	39761735	39761735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:39761735C>A	ENST00000395670.3	-	4	969	c.550G>T	c.(550-552)Gga>Tga	p.G184*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.G184*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.G184*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.G184*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	184	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G184*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTATAAATTCCTCCAGTTGAA	0.308000													50	184					7.93035e-42	1.45266e-41	0.139131	1	0
KIAA1432	57589	broad.mit.edu	37	9	5762559	5762559	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:5762559A>G	ENST00000414202.2	+	18	2202	c.2011A>G	c.(2011-2013)Att>Gtt	p.I671V	KIAA1432_ENST00000251879.6_Missense_Mutation_p.I671V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.I592V|KIAA1432_ENST00000449720.2_Missense_Mutation_p.I555V|KIAA1432_ENST00000418622.3_Missense_Mutation_p.I592V	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	671						integral to membrane		p.I592V(2)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCAGAGAGCATTATGTTAAA	0.458000													24	79					0	0	0.099896	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416997	89416997	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:89416997C>T	ENST00000490686.1	-	0	213																											GGGGCTTTCCCTGGTTTCTGC	0.522000													5	126					0	0	0.217242	0	0
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:247607348C>A	ENST00000366497.2	+	7	3353	c.2573C>A	c.(2572-2574)aCg>aAg	p.T858K	NLRP3_ENST00000336119.3_Missense_Mutation_p.T915K|NLRP3_ENST00000391827.2_Missense_Mutation_p.T858K|NLRP3_ENST00000348069.2_Missense_Mutation_p.T801K|NLRP3_ENST00000391828.3_Missense_Mutation_p.T915K|NLRP3_ENST00000366496.2_Missense_Mutation_p.T858K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	915					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T915K(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAATCTCACGCACCTTTAC	0.512000													46	67					2.27781e-18	3.40802e-18	0.139131	1	0
GPR125	166647	broad.mit.edu	37	4	22390178	22390178	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:22390178C>A	ENST00000334304.5	-	19	3385	c.3116G>T	c.(3115-3117)aGt>aTt	p.S1039I	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1039					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.S1039I(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAAGAACGCACTGAAGCTTAA	0.463000													26	76					1.42536e-11	1.87497e-11	0.099896	1	0
TRPM3	80036	broad.mit.edu	37	9	73399169	73399169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:73399169C>A	ENST00000377110.2	-	7	1243	c.1000G>T	c.(1000-1002)Gca>Tca	p.A334S	TRPM3_ENST00000360823.2_Missense_Mutation_p.A206S|TRPM3_ENST00000377101.1_Missense_Mutation_p.A181S|TRPM3_ENST00000377105.1_Missense_Mutation_p.A181S|TRPM3_ENST00000357533.2_Missense_Mutation_p.A336S|TRPM3_ENST00000396285.1_Missense_Mutation_p.A181S|TRPM3_ENST00000396292.4_Missense_Mutation_p.A206S|TRPM3_ENST00000396283.1_Missense_Mutation_p.A206S|TRPM3_ENST00000377111.2_Missense_Mutation_p.A334S|TRPM3_ENST00000361823.5_Missense_Mutation_p.A181S|TRPM3_ENST00000396280.5_Missense_Mutation_p.A181S|TRPM3_ENST00000377106.1_Missense_Mutation_p.A206S|TRPM3_ENST00000358082.3_Missense_Mutation_p.A206S|TRPM3_ENST00000423814.3_Missense_Mutation_p.A361S|TRPM3_ENST00000408909.2_Missense_Mutation_p.A181S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	359						integral to membrane	calcium channel activity	p.A206S(2)|p.A334S(2)|p.A336S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTATGAGTGCCACCACAGGA	0.458000													16	30					6.49762e-13	8.66349e-13	0.175082	1	0
THBS4	7060	broad.mit.edu	37	5	79373964	79373964	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:79373964C>G	ENST00000350881.2	+	17	2369	c.2179C>G	c.(2179-2181)Ctg>Gtg	p.L727V	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L636V	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	727					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.L727V(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAGGTCACCCTGACCGACTT	0.587000													6	39					0	0	0.217242	0	0
CTNNB1	1499	broad.mit.edu	37	3	41274850	41274850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:41274850G>T	ENST00000349496.5	+	8	1380	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V	CTNNB1_ENST00000396185.3_Missense_Mutation_p.G367V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G367V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G360V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G367V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	367					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G367V(2)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAAGCTTTAGGACTTCACCTG	0.393000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				30	70					2.70662e-09	3.36468e-09	0.144211	1	0
OR8J1	219477	broad.mit.edu	37	11	56128508	56128508	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56128508C>A	ENST00000303039.3	+	1	818	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262P(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGTGCAGCCCCGAAGTAACC	0.408000													51	191					3.90926e-44	7.18326e-44	0.139131	1	0
EPCAM	4072	broad.mit.edu	37	2	47607038	47607038	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:47607038G>T	ENST00000263735.4	+	7	1146	c.788G>T	c.(787-789)gGt>gTt	p.G263V	EPCAM_ENST00000405271.1_Missense_Mutation_p.G291V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	263					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.G263V(2)|p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TCAATGCAGGGTCTAAAAgct	0.378000													12	48					5.50884e-06	6.33894e-06	0.093190	1	0
CSMD1	64478	broad.mit.edu	37	8	3432521	3432521	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:3432521C>A	ENST00000520002.1	-	11	1848	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q430H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q431H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q431H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q431H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	431	CUB 3.					integral to membrane		p.Q430H(2)|p.Q159H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTTCATACTGAACCGGAT	0.517000													34	96					5.91797e-21	9.27937e-21	0.163468	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128052	3128052	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:3128052T>A	ENST00000380266.3	-	2	1986	c.1665A>T	c.(1663-1665)tcA>tcT	p.S555S	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	555					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.S555S(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ATTCAGGCTTTGAATTCATAT	0.458000													31	83					0	0	0.153744	0	0
MIR516B1	574490	broad.mit.edu	37	19	54240116	54240116	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:54240116C>T	ENST00000385211.1	+	0	18					NR_030212.1																						CTGTGACCATCTGGAGGTAAG	0.398000													22	104					0	0	0.264190	0	0
MYO1B	4430	broad.mit.edu	37	2	192257838	192257838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:192257838G>T	ENST00000392318.3	+	20	2363	c.2116G>T	c.(2116-2118)Gac>Tac	p.D706Y	MYO1B_ENST00000339514.4_Missense_Mutation_p.D706Y|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000304164.4_Missense_Mutation_p.D706Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D706Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	706	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D706Y(4)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACGCCTGGAGGACTTGGCCAC	0.428000													10	85					1.58986e-06	1.86223e-06	0.069234	1	0
HTR5A	3361	broad.mit.edu	37	7	154862701	154862701	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:154862701C>G	ENST00000287907.2	+	1	668	c.92C>G	c.(91-93)cCc>cGc	p.P31R	AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	31						integral to plasma membrane	serotonin receptor activity	p.P31R(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GACCTGCGCCCCAGCTCGCCC	0.612000													23	115					0	0	0.116897	0	0
PROSER2	254427	broad.mit.edu	37	10	11908754	11908754	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:11908754G>A	ENST00000277570.5	+	3	517	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PROSER2_ENST00000474155.1_3'UTR|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	NM_153256.3	NP_694988.3			proline and serine-rich protein 2									p.E121E(2)									GGGAAGCCGAGGGCCTTCCAG	0.622000													18	44					0	0	0.234183	0	0
PRSS1	5644	broad.mit.edu	37	7	142459828	142459828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142459828C>A	ENST00000486171.1	+	4	463	c.446C>A	c.(445-447)aCt>aAt	p.T149N	PRSS1_ENST00000311737.7_Missense_Mutation_p.T135N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	135	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T135N(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCCAGCCACTGGCACGAAG	0.557000													53	64					7.1157e-29	1.2306e-28	0.139131	1	0
PLCB1	23236	broad.mit.edu	37	20	8862495	8862495	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:8862495G>C	ENST00000338037.6	+	32	3677	c.3650G>C	c.(3649-3651)tGa>tCa	p.*1217S	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.*1217S(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACTCCTCTGTGAATGCTCCTG	0.522000													20	67					0	0	0.204396	0	0
FAM198B	51313	broad.mit.edu	37	4	159052134	159052134	+	Missense_Mutation	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:159052134C>G	ENST00000296530.8	-	4	1777	c.1156G>C	c.(1156-1158)Gga>Cga	p.G386R	FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Missense_Mutation_p.G386R|FAM198B_ENST00000393807.5_Missense_Mutation_p.G394R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	386						Golgi membrane|integral to membrane		p.G386R(2)|p.G394R(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGTCTGAATCCACAGCAATTT	0.398000													15	73					0	0	0.119110	0	0
DCC	1630	broad.mit.edu	37	18	50923679	50923679	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:50923679C>A	ENST00000442544.2	+	18	3306	c.2688_splice	c.e18-1	p.S897_splice	DCC_ENST00000581580.1_Splice_Site_p.S532_splice|DCC_ENST00000412726.1_Splice_Site_p.S725_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	897	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S897*(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTGTATAGTCAGAAGACACA	0.328000													22	78					1.37657e-19	2.1189e-19	0.234183	1	0
TOX2	84969	broad.mit.edu	37	20	42695474	42695474	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:42695474G>T	ENST00000358131.5	+	7	1615	c.1407G>T	c.(1405-1407)ggG>ggT	p.G469G	TOX2_ENST00000341197.3_Silent_p.G487G|TOX2_ENST00000372999.1_Silent_p.G445G|TOX2_ENST00000423191.1_Silent_p.G445G|TOX2_ENST00000435864.2_Silent_p.G365G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G496G(2)|p.G445G(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCCCAGTGGGGAGTGTGGCA	0.642000													45	119					1.30409e-13	1.77913e-13	0.139131	1	0
COL11A1	1301	broad.mit.edu	37	1	103488398	103488398	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:103488398T>C	ENST00000358392.2	-	8	1498	c.1181A>G	c.(1180-1182)gAt>gGt	p.D394G	COL11A1_ENST00000353414.4_Missense_Mutation_p.D343G|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				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	p.D382G(2)|p.D394G(2)		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)		TTCATAAAAATCATATTCGCC	0.368000													27	103					0	0	0.116897	0	0
DOCK2	1794	broad.mit.edu	37	5	169508848	169508848	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:169508848C>A	ENST00000256935.8	+	51	5370	c.5290C>A	c.(5290-5292)Ctg>Atg	p.L1764M	DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256M|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.L1764M(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCAGCCCTGGCGCTCTC	0.632000													5	52					0.000442599	0.000484634	0.058154	1	0
SCNN1D	6339	broad.mit.edu	37	1	1221528	1221528	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:1221528G>A	ENST00000338555.2	+	4	1433	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	SCNN1D_ENST00000325425.8_Missense_Mutation_p.V163I|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V97I|SCNN1D_ENST00000379116.5_Missense_Mutation_p.V261I					sodium channel, non-voltage-gated 1, delta subunit									p.V261I(2)|p.V97I(2)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGAGCCCTGGTCGCGCTCTG	0.692000													5	21					0	0	0.217242	0	0
OR5M10	390167	broad.mit.edu	37	11	56344907	56344907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56344907G>T	ENST00000526812.2	-	1	356	c.291C>A	c.(289-291)tgC>tgA	p.C97*		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97*(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACTGTGTGAAGCATCCAGCGT	0.443000													15	73					1.33834e-09	1.6851e-09	0.189662	1	0
APBA2	321	broad.mit.edu	37	15	29397611	29397611	+	Silent	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:29397611G>A	ENST00000558402.1	+	12	2153	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	APBA2_ENST00000558330.1_Silent_p.Q506Q|APBA2_ENST00000558259.1_Silent_p.Q518Q|APBA2_ENST00000561069.1_Silent_p.Q518Q|APBA2_ENST00000411764.1_Silent_p.Q506Q			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	518	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTATCGGCCAGGCCTTCAGCG	0.632000													6	22					0	0	0.058154	0	0
USP28	57646	broad.mit.edu	37	11	113699991	113699991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:113699991A>T	ENST00000003302.4	-	10	1055	c.987T>A	c.(985-987)tgT>tgA	p.C329*	USP28_ENST00000545540.1_Nonsense_Mutation_p.C204*|USP28_ENST00000544967.1_Nonsense_Mutation_p.C37*|USP28_ENST00000537706.1_Nonsense_Mutation_p.C329*|USP28_ENST00000260188.5_Nonsense_Mutation_p.C329*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	329					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.C329*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCCTTCCAAACACTCGTCTA	0.468000													19	43					0	0	0.204396	0	0
KCNU1	157855	broad.mit.edu	37	8	36694374	36694374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:36694374G>T	ENST00000399881.3	+	14	1466	c.1429G>T	c.(1429-1431)Gaa>Taa	p.E477*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	477	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.E477*(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGCTTTGCTGAATTAAAACT	0.433000													52	133					1.00221e-16	1.46592e-16	0.139131	1	0
GATM	2628	broad.mit.edu	37	15	45654417	45654417	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:45654417T>C	ENST00000396659.3	-	9	1501	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	388					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	p.I388V(2)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATGGTAGTGATACCTGCATTG	0.478000													13	45					0	0	0.093190	0	0
TNR	7143	broad.mit.edu	37	1	175365895	175365895	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:175365895A>T	ENST00000367674.1	-	5	1733	c.1025T>A	c.(1024-1026)aTt>aAt	p.I342N	TNR_ENST00000263525.2_Missense_Mutation_p.I342N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	342	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I342N(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTCCAGCTCAATGGACCTGTC	0.607000													27	184					0	0	0.108266	0	0
C1orf65	164127	broad.mit.edu	37	1	223567913	223567913	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:223567913G>T	ENST00000366875.3	+	1	1199	c.1096G>T	c.(1096-1098)Gcc>Tcc	p.A366S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	366								p.A366S(2)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GAAGGCGCGCGCCCAGGCAGA	0.672000													17	10					3.52763e-06	4.0993e-06	0.160694	1	0
MKS1	54903	broad.mit.edu	37	17	56294052	56294052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:56294052C>A	ENST00000393119.2	-	3	310	c.236G>T	c.(235-237)gGg>gTg	p.G79V	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000537529.2_Missense_Mutation_p.G69V|MKS1_ENST00000313863.6_Missense_Mutation_p.G79V|MKS1_ENST00000337050.7_Missense_Mutation_p.G79V	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	79					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.G79V(4)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCTGCCACCCAATCACAAT	0.502000													14	62					1.05317e-09	1.33175e-09	0.119110	1	0
MAGI2	9863	broad.mit.edu	37	7	77789402	77789402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:77789402C>T	ENST00000354212.4	-	16	3038	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E915K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E929K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	929	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding	p.E929K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCGAAGCCCTCATTCTCTTTG	0.532000													6	168					0	0	0.217242	0	0
USP31	57478	broad.mit.edu	37	16	23093759	23093759	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:23093759C>A	ENST00000219689.7	-	12	1949	c.1950_splice	c.e12+1	p.Q650_splice		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	650					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q650H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATTTCCATACCTGCCGAAATC	0.468000													22	67					6.32553e-13	8.51124e-13	0.099896	1	0
LRRC37BP1	147172	broad.mit.edu	37	17	28958781	28958781	+	RNA	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:28958781G>A	ENST00000412831.1	+	0	9				SMURF2P1_ENST00000578265.1_RNA																							AGCTGAAGAAGCATCTGTAGG	0.463000													34	113					0	0	0.173368	0	0
PDS5A	23244	broad.mit.edu	37	4	39904046	39904046	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:39904046C>T	ENST00000303538.8	-	13	1959	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	PDS5A_ENST00000503396.1_Missense_Mutation_p.V474I	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	474					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.V474I(4)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGTGGGGGACAAGATACTGA	0.318000													5	72					0	0	0.184627	0	0
SIT1	27240	broad.mit.edu	37	9	35650214	35650214	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:35650214G>T	ENST00000259608.3	-	4	410	c.324C>A	c.(322-324)gaC>gaA	p.D108E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	108					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	p.D108E(2)		endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATCCTGCTGGTCTGGCTCTG	0.617000													24	71					1.85244e-09	2.32246e-09	0.279207	1	0
NPAP1	23742	broad.mit.edu	37	15	24921921	24921921	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:24921921C>A	ENST00000329468.2	+	1	1381	c.907C>A	c.(907-909)Cct>Act	p.P303T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P303T(2)									AAAGAGGATGCCTGATGAGAA	0.572000													22	74					1.40151e-16	2.03478e-16	0.219247	1	0
SGIP1	84251	broad.mit.edu	37	1	67155929	67155929	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:67155929A>T	ENST00000371037.4	+	17	1577	c.1500A>T	c.(1498-1500)ttA>ttT	p.L500F	SGIP1_ENST00000371036.3_Missense_Mutation_p.L300F|SGIP1_ENST00000371039.1_Missense_Mutation_p.L301F|SGIP1_ENST00000237247.6_Missense_Mutation_p.L531F|SGIP1_ENST00000371035.3_Missense_Mutation_p.L290F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	500					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.L301F(2)|p.L500F(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAGCACCCTTAGCGCGGGCTG	0.463000													63	152					0	0	0.139131	0	0
EPC1	80314	broad.mit.edu	37	10	32573907	32573907	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:32573907G>A	ENST00000319778.6	-	10	1765	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	EPC1_ENST00000375110.2_Missense_Mutation_p.S438L|EPC1_ENST00000263062.8_Missense_Mutation_p.S488L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	488					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.S488L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATGTTGTGGTGAGGAAAGCAT	0.388000													50	141					0	0	0.139131	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713801	138713801	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:138713801C>A	ENST00000389532.4	-	11	2770	c.2706G>T	c.(2704-2706)ctG>ctT	p.L902L	CAMSAP1_ENST00000312405.6_Silent_p.L624L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.L913L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	902						cytoplasm|microtubule		p.L902L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCCTTGCCGACAGCGCCTCCA	0.637000													40	126					2.37825e-27	4.077e-27	0.290176	1	0
EP400NL	347918	broad.mit.edu	37	12	132610920	132610920	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:132610920G>T	ENST00000475841.1	+	7	1826		c.e7-1							EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						TCATATTTCAGTTGCAAAAGA	0.358000													4	12					0.00909568	0.0095847	0.150653	1	0
KRTCAP3	200634	broad.mit.edu	37	2	27666044	27666044	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:27666044G>T	ENST00000543753.1	+	4	424	c.377G>T	c.(376-378)cGc>cTc	p.R126L	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R108L|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R126L	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	126						integral to membrane		p.R126L(2)		large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACGGTGGCCGCCGCCTTATT	0.607000													56	119					8.28887e-21	1.29624e-20	0.139131	1	0
OR13C4	138804	broad.mit.edu	37	9	107288801	107288801	+	Silent	SNP	C	C	T	rs146391633		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:107288801C>T	ENST00000277216.3	-	1	689	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTCCTGTGGCCGAGTTCGTTC	0.413000													47	115					0	0	0.139131	0	0
RPL3L	6123	broad.mit.edu	37	16	2002992	2002992	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:2002992G>T	ENST00000268661.7	-	3	342	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	83					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.P83H(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CACCACTAGGGGCGGCGTTTC	0.607000													21	97					7.07758e-08	8.51046e-08	0.099896	1	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	92					0	0	0.058154	0	0
ROBO2	6092	broad.mit.edu	37	3	77623840	77623840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:77623840G>T	ENST00000461745.1	+	14	3062	c.2162G>T	c.(2161-2163)gGa>gTa	p.G721V	ROBO2_ENST00000332191.8_Missense_Mutation_p.G721V|ROBO2_ENST00000487694.3_Missense_Mutation_p.G737V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	721	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.G737V(2)|p.G721V(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAGTTCCAAGGAATGGATAGT	0.373000													25	56					3.01185e-09	3.73622e-09	0.294199	1	0
LILRA1	11024	broad.mit.edu	37	19	55107393	55107393	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:55107393G>C	ENST00000251372.3	+	6	1133	c.951G>C	c.(949-951)ctG>ctC	p.L317L	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	317					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L317L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGACATCCTGATCGCAGGTG	0.682000													25	65					0	0	0.125774	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461293	5461293	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:5461293G>T	ENST00000296564.7	+	13	2068	c.1846G>T	c.(1846-1848)Ggt>Tgt	p.G616C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	616								p.G616C(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATGACTCAGGTGATGGAAT	0.418000													42	149					9.14704e-12	1.20593e-11	0.268233	1	0
HERC1	8925	broad.mit.edu	37	15	64067496	64067496	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:64067496T>A	ENST00000443617.2	-	2	414	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	109					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.V109V(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACGCTGGAGTACAAGCAGTC	0.473000													27	75					0	0	0.108266	0	0
CPT2	1376	broad.mit.edu	37	1	53676835	53676835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:53676835G>T	ENST00000371486.3	+	4	2004	c.1489G>T	c.(1489-1491)Ggc>Tgc	p.G497C	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	497					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	p.G497C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTCAAGCACGGCCGCACTGA	0.617000													7	17					0.000157383	0.00017395	0.278610	1	0
ANK1	286	broad.mit.edu	37	8	41553923	41553923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:41553923C>A	ENST00000396942.1	-	26	3001	c.2918G>T	c.(2917-2919)aGc>aTc	p.S973I	ANK1_ENST00000379758.2_Missense_Mutation_p.S973I|ANK1_ENST00000347528.4_Missense_Mutation_p.S973I|ANK1_ENST00000396945.1_Missense_Mutation_p.S973I|ANK1_ENST00000265709.8_Missense_Mutation_p.S1014I|ANK1_ENST00000289734.7_Missense_Mutation_p.S973I|ANK1_ENST00000352337.4_Missense_Mutation_p.S973I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	973	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S1014I(2)|p.S973I(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TATGATCCTGCTGGCCAGGCC	0.716000													30	78					1.88708e-17	2.78097e-17	0.134883	1	0
FAM86C2P	645332	broad.mit.edu	37	11	67559743	67559743	+	RNA	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:67559743A>G	ENST00000528089.1	-	0	2007																											ACCTGCGGGAATCGCAGCAGC	0.502000													8	47					0	0	0.058154	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237602	160237602	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:160237602C>A	ENST00000275275.5	+	14	1226	c.1055C>A	c.(1054-1056)gCg>gAg	p.A352E	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363E	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	352						integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468000													29	85					3.22433e-31	5.65943e-31	0.134883	1	0
UPP2	151531	broad.mit.edu	37	2	158980311	158980311	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:158980311T>A	ENST00000605860.1	+	9	932	c.886T>A	c.(886-888)Tta>Ata	p.L296I	UPP2_ENST00000409859.4_Missense_Mutation_p.L296I|UPP2_ENST00000005756.4_Missense_Mutation_p.L239I|UPP2_ENST00000460456.1_3'UTR			O95045	UPP2_HUMAN	uridine phosphorylase 2	239					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.L239I(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGAAAAAAAGTTAGACTACTT	0.453000													38	101					0	0	0.203993	0	0
PCF11	51585	broad.mit.edu	37	11	82879556	82879556	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:82879556G>C	ENST00000298281.4	+	8	2631	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	727	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.D826H(2)|p.D727H(2)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACCATTTGTAGATAGTCCAGC	0.428000													27	49					0	0	0.099896	0	0
ZNF264	9422	broad.mit.edu	37	19	57705360	57705360	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57705360G>A	ENST00000263095.6	+	2	565	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ZNF264_ENST00000536056.1_Missense_Mutation_p.V51M|ZNF264_ENST00000600531.1_Missense_Mutation_p.V51M|ZNF264_ENST00000599653.1_Missense_Mutation_p.V51M	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V51M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGGGCTCCTGGTGTCTCTGGG	0.587000													32	91					0	0	0.163468	0	0
RSRC2	65117	broad.mit.edu	37	12	122990164	122990164	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:122990164A>G	ENST00000331738.7	-	10	1360	c.1215T>C	c.(1213-1215)gcT>gcC	p.A405A	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Silent_p.A357A	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	405								p.Q406*(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTTCATACTGAGCATCTAAAT	0.398000													51	122					0	0	0.139131	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931156	94931156	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:94931156G>A	ENST00000337425.5	-	4	1066	c.992C>T	c.(991-993)tCt>tTt	p.S331F	SERPINA9_ENST00000546329.1_Missense_Mutation_p.S295F|SERPINA9_ENST00000424550.2_Missense_Mutation_p.S182F|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S233F|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S313F|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S231F	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	313					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.S331F(4)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTAGGAGGCAGAAATGGAAAA	0.463000													30	77					0	0	0.144211	0	0
MYRF	745	broad.mit.edu	37	11	61522909	61522909	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:61522909C>A	ENST00000265460.5	+	1	49	c.14C>A	c.(13-15)cCa>cAa	p.P5Q	MYRF_ENST00000278836.5_Intron|RP11-467L20.10_ENST00000536405.1_lincRNA	NM_013279.2	NP_037411.1			myelin regulatory factor									p.P5Q(2)									CACTGGCTTCCAGCAGGTAAC	0.647000													9	30					0.00448238	0.00477471	0.047766	1	0
NDUFS1	4719	broad.mit.edu	37	2	207003266	207003266	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:207003266C>A	ENST00000233190.5	-	13	1601	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L	NDUFS1_ENST00000449699.1_Silent_p.L445L|NDUFS1_ENST00000440274.1_Silent_p.L409L|NDUFS1_ENST00000432169.1_Silent_p.L334L|NDUFS1_ENST00000423725.1_Silent_p.L388L|NDUFS1_ENST00000457011.1_Silent_p.L329L|NDUFS1_ENST00000455934.2_Silent_p.L459L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	445					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.L445L(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GGGAGTCTCCCAGGTGGTCAT	0.408000													19	124					1.15919e-05	1.31583e-05	0.204396	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													12	95					0	0	0.093190	0	0
LVRN	206338	broad.mit.edu	37	5	115339077	115339077	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:115339077G>T	ENST00000357872.4	+	12	2161	c.2037_splice	c.e12+1	p.K679_splice	AQPEP_ENST00000395528.2_Splice_Site_p.K196_splice	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		679					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.K679N(2)									AGGATCCTAAGGTAAGGTTAC	0.294000													13	111					0.000308642	0.000338585	0.132662	1	0
ABCA13	154664	broad.mit.edu	37	7	48318349	48318349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:48318349G>T	ENST00000435803.1	+	18	7582	c.7558G>T	c.(7558-7560)Gac>Tac	p.D2520Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2520					transport	integral to membrane	ATP binding|ATPase activity	p.D2465Y(2)|p.D2520Y(2)		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						CACATCAATGGACTCCATTGT	0.428000													187	232					4.04138e-74	7.64093e-74	0.139131	1	0
MUC16	94025	broad.mit.edu	37	19	9065905	9065905	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:9065905T>A	ENST00000397910.4	-	3	21744	c.21541A>T	c.(21541-21543)Aca>Tca	p.T7181S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7183	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7181S(4)|p.T2814S(2)		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						GACGCTGCTGTGTTTGTGGAA	0.493000													40	90					0	0	0.246493	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330609	25330609	+	RNA	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:25330609G>T	ENST00000546682.1	+	0	453				SNHG14_ENST00000549804.2_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CGTCATCCTCGTCGAACTGAG	0.468000													42	133					2.26627e-22	3.63098e-22	0.257332	1	0
UNC5D	137970	broad.mit.edu	37	8	35606200	35606200	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:35606200A>C	ENST00000287272.2	+	11	1735	c.1715A>C	c.(1714-1716)cAg>cCg	p.Q572P	UNC5D_ENST00000416672.1_Missense_Mutation_p.Q646P|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q217P|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q641P|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q636P|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q574P			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	641	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.Q636P(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGACACAGCAGGGCAAATGG	0.438000													42	80					0	0	0.246493	0	0
UNK	85451	broad.mit.edu	37	17	73780812	73780812	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:73780812G>A	ENST00000293218.3	+	2	79	c.79G>A	c.(79-81)Gac>Aac	p.D27N	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding	p.D27N(2)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTCCAGCCGGACATAGAACC	0.647000													9	38					0	0	0.105934	0	0
OR4C46	119749	broad.mit.edu	37	11	51515976	51515976	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:51515976A>T	ENST00000328188.1	+	1	695	c.695A>T	c.(694-696)cAc>cTc	p.H232L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H232L(2)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAGGCAAGGCACAAAGCCCTC	0.483000													34	86					0	0	0.183431	0	0
GLI3	2737	broad.mit.edu	37	7	42005727	42005727	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:42005727C>A	ENST00000395925.3	-	15	3028	c.2944G>T	c.(2944-2946)Ggg>Tgg	p.G982W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	982					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G982W(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGGCTCCCCCGTCGCTGCAC	0.746000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				6	12					1.12685e-05	1.2816e-05	0.047766	1	0
EPHA3	2042	broad.mit.edu	37	3	89391035	89391035	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:89391035G>T	ENST00000336596.2	+	5	1326	c.1101G>T	c.(1099-1101)ggG>ggT	p.G367G	EPHA3_ENST00000494014.1_Silent_p.G367G|EPHA3_ENST00000452448.2_Silent_p.G367G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	367	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.G367G(4)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAATGTGGGTGGAATATAA	0.488000										TSP Lung(6;0.00050)			31	80					8.88839e-20	1.37175e-19	0.153744	1	0
IVL	3713	broad.mit.edu	37	1	152882470	152882470	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152882470C>T	ENST00000368764.3	+	2	261	c.197C>T	c.(196-198)gCt>gTt	p.A66V	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	66					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.A66V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACATGACTGCTGTAAAGGGA	0.542000													56	55					0	0	0.139131	0	0
CDKL1	8814	broad.mit.edu	37	14	50801307	50801307	+	Silent	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:50801307A>G	ENST00000216378.2	-	8	1418	c.774T>C	c.(772-774)tcT>tcC	p.S258S	CDKL1_ENST00000395834.1_Silent_p.S258S|ATP5S_ENST00000358473.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	257	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.S258S(4)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GGGCAGGATAAGAGATGTTTG	0.378000													71	211					0	0	0.139131	0	0
LPPR3	79948	broad.mit.edu	37	19	814479	814479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:814479G>T	ENST00000359894.2	-	6	933	c.870C>A	c.(868-870)gaC>gaA	p.D290E	LPPR3_ENST00000520876.3_Missense_Mutation_p.D262E	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		262						integral to membrane	phosphatidate phosphatase activity	p.D290E(2)									CGGCATACACGTCCACAGGGT	0.657000													8	19					0.0809354	0.0829094	0.080935	1	0
CPXM2	119587	broad.mit.edu	37	10	125521438	125521438	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr10:125521438T>A	ENST00000241305.3	-	11	1881	c.1727A>T	c.(1726-1728)cAg>cTg	p.Q576L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	576					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q576L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCCTCCTTCTGGAAGTCCTC	0.667000													16	38					0	0	0.146539	0	0
OR5F1	338674	broad.mit.edu	37	11	55761670	55761670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:55761670C>A	ENST00000278409.1	-	1	431	c.432G>T	c.(430-432)atG>atT	p.M144I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCCCGGCTGCCATTTTTAGGT	0.498000													23	46					4.54149e-19	6.88246e-19	0.249174	1	0
UNC5A	90249	broad.mit.edu	37	5	176306803	176306803	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:176306803C>T	ENST00000329542.4	+	15	2719	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G	UNC5A_ENST00000261961.3_Silent_p.G775G	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	815	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.G815G(2)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCAACGGCAACCTCAGCC	0.672000													12	74					0	0	0.132662	0	0
CLYBL	171425	broad.mit.edu	37	13	100425258	100425258	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr13:100425258C>A	ENST00000376355.3	+	2	274	c.243C>A	c.(241-243)aaC>aaA	p.N81K	CLYBL_ENST00000444838.2_Missense_Mutation_p.N81K|CLYBL_ENST00000376354.1_Missense_Mutation_p.N81K|CLYBL_ENST00000376360.1_Missense_Mutation_p.N81K|CLYBL_ENST00000339105.4_Missense_Mutation_p.N81K	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	81					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGCTGCAAACAAAAAGGTAA	0.378000													4	87					0.000602214	0.000654532	0.184627	1	0
PTPRH	5794	broad.mit.edu	37	19	55693445	55693445	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:55693445A>T	ENST00000376350.3	-	19	3159	c.3137T>A	c.(3136-3138)cTt>cAt	p.L1046H	PTPRH_ENST00000263434.5_Missense_Mutation_p.L868H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1046	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1046H(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAAGGGCCCAAGGAGACCCTC	0.607000													50	137					0	0	0.139131	0	0
ESPNL	339768	broad.mit.edu	37	2	239040032	239040032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:239040032G>T	ENST00000343063.3	+	9	2940	c.2677G>T	c.(2677-2679)Ggc>Tgc	p.G893C	ESPNL_ENST00000409506.1_Missense_Mutation_p.G525C|ESPNL_ENST00000409169.1_Missense_Mutation_p.G849C|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	893								p.G893C(2)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGCACCCACGGCTGGGAGGC	0.697000													6	10					0.0293803	0.0304685	0.248553	1	0
NFASC	23114	broad.mit.edu	37	1	204970313	204970313	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:204970313C>A	ENST00000367172.4	+	28	3684	c.3356C>A	c.(3355-3357)tCc>tAc	p.S1119Y	NFASC_ENST00000339876.6_Missense_Mutation_p.S1012Y|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.S1040Y|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.S1012Y|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.S1104Y|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404076.1_Intron			O94856	NFASC_HUMAN	neurofascin	1119	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S1012Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATGAGCAGTCCATATGGAAC	0.527000													5	27					0.014758	0.0154133	0.184627	1	0
OR8B4	283162	broad.mit.edu	37	11	124294273	124294273	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:124294273C>A	ENST00000356130.3	-	1	516	c.495G>T	c.(493-495)ctG>ctT	p.L165L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L165L(2)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGAAGGTCAGTCGCAGCA	0.532000													14	27					7.93312e-07	9.34805e-07	0.119110	1	0
ATP1A2	477	broad.mit.edu	37	1	160104960	160104960	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:160104960G>A	ENST00000361216.3	+	15	2079	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G664S|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	664					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.G664S(2)		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)			CGTGGTGCACGGCTCTGACCT	0.597000													18	91					0	0	0.204396	0	0
UBA6	55236	broad.mit.edu	37	4	68534382	68534382	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:68534382C>T	ENST00000322244.4	-	9	739	c.680G>A	c.(679-681)gGc>gAc	p.G227D	UBA6_ENST00000420827.2_Missense_Mutation_p.G227D	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	227					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.G227D(2)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGTAACAATGCCAGGATTTGC	0.303000													19	79					0	0	0.175082	0	0
MYH1	4619	broad.mit.edu	37	17	10397739	10397739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:10397739T>A	ENST00000226207.5	-	39	5693	c.5599A>T	c.(5599-5601)Agg>Tgg	p.R1867W	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1867						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1867W(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGGAGCCTGAGAATATTC	0.393000													25	136					0	0	0.108266	0	0
GCSAML	148823	broad.mit.edu	37	1	247737611	247737611	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:247737611T>C	ENST00000366491.2	+	7	772	c.275T>C	c.(274-276)cTt>cCt	p.L92P	GCSAML_ENST00000366489.1_Missense_Mutation_p.L92P|GCSAML_ENST00000536561.1_Missense_Mutation_p.L92P|GCSAML_ENST00000463359.1_Missense_Mutation_p.L80P|GCSAML_ENST00000527541.1_Missense_Mutation_p.L80P|GCSAML_ENST00000366488.4_Missense_Mutation_p.L112P|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.L80P					germinal center-associated, signaling and motility-like									p.L112P(2)									GAATATGCCCTTCTTAGGACT	0.443000													27	104					0	0	0.108266	0	0
MMP3	4314	broad.mit.edu	37	11	102713485	102713485	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:102713485G>A	ENST00000299855.5	-	2	524	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	90					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P90S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCACACCTGGGCTTGCGCATC	0.512000													15	28					0	0	0.132662	0	0
HECW1	23072	broad.mit.edu	37	7	43447290	43447290	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:43447290A>T	ENST00000395891.1	+	8	1366	c.761A>T	c.(760-762)aAg>aTg	p.K254M	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.K254M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	254	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.K254M(2)|p.K233M(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAGATCCAAGATCATAGGC	0.522000													54	63					0	0	0.139131	0	0
CTPS1	1503	broad.mit.edu	37	1	41453091	41453091	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:41453091G>T	ENST00000372621.4	+	4	893	c.385G>T	c.(385-387)Gcg>Tcg	p.A129S	CTPS1_ENST00000543104.1_Missense_Mutation_p.A136S|CTPS1_ENST00000372616.1_Missense_Mutation_p.A129S|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	129					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.A129S(4)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GATGAGACAGGCGTTAATACC	0.433000													15	37					3.52763e-06	4.0993e-06	0.160694	1	0
PTGS1	5742	broad.mit.edu	37	9	125145835	125145835	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:125145835G>T	ENST00000362012.2	+	8	815	c.810G>T	c.(808-810)gtG>gtT	p.V270V	PTGS1_ENST00000223423.4_Silent_p.V270V|PTGS1_ENST00000540753.1_Silent_p.V245V|PTGS1_ENST00000373698.5_Silent_p.V161V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	270					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.V270V(2)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AGGCGCCTGTGTTGATGCACT	0.642000													22	58					5.26018e-13	7.094e-13	0.234183	1	0
PLCL1	5334	broad.mit.edu	37	2	198950213	198950213	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:198950213G>C	ENST00000428675.1	+	2	2370	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D560H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	658	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D560H(2)|p.D658H(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAATCCACAGGACTTTTGGAA	0.413000													17	72					0	0	0.189662	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947485	57947485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:57947485G>T	ENST00000335397.3	+	3	885	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G190V(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTGACCTGTGGGGAGAGCTAC	0.463000													29	111					0.000147802	0.000163976	0.116897	1	0
ANK2	287	broad.mit.edu	37	4	114153332	114153332	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:114153332T>A	ENST00000357077.4	+	5	453	c.400T>A	c.(400-402)Tta>Ata	p.L134I	ANK2_ENST00000394537.3_Missense_Mutation_p.L134I|ANK2_ENST00000264366.6_Missense_Mutation_p.L134I|ANK2_ENST00000506722.1_Missense_Mutation_p.L113I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	134					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.L134I(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTTACTCCTTTATACATGGC	0.393000													28	88					0	0	0.116897	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541382	40541382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:40541382G>C	ENST00000434248.1	-	5	1449	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ZNF780B_ENST00000221355.6_Missense_Mutation_p.Q314E	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q462E(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGCAATGTTGAATAAGTTGG	0.378000													14	182					0	0	0.132662	0	0
RNF20	56254	broad.mit.edu	37	9	104319803	104319803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:104319803G>T	ENST00000389120.3	+	16	2397	c.2307G>T	c.(2305-2307)aaG>aaT	p.K769N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	769					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	p.K769N(2)		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)		AGCGTATCAAGTCCAATCAGA	0.453000													27	60					3.28513e-13	4.4611e-13	0.294199	1	0
RASGRF2	5924	broad.mit.edu	37	5	80497210	80497210	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:80497210G>A	ENST00000265080.4	+	19	2922	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	952					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R952Q(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGTTTTGCGAGACCCAGAC	0.403000													7	127					0	0	0.248553	0	0
ZNF835	90485	broad.mit.edu	37	19	57175250	57175250	+	Silent	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57175250C>T	ENST00000537055.2	-	2	1548	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.T461T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGCCCGTGTGCGTGCGCTGGT	0.662000													26	94					0	0	0.294199	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964544	102964544	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:102964544T>A	ENST00000233954.1	+	9	1381	c.1110T>A	c.(1108-1110)acT>acA	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383000													20	35					0	0	0.234183	0	0
NPSR1	387129	broad.mit.edu	37	7	34867133	34867133	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:34867133T>A	ENST00000360581.1	+	5	727	c.599T>A	c.(598-600)cTg>cAg	p.L200Q	NPSR1_ENST00000531252.1_Missense_Mutation_p.L189Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.L200Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.L200Q|NPSR1_ENST00000381542.1_Missense_Mutation_p.L134Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	200						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.L200Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCTGGGCCCTGTGGCCTGAC	0.532000													28	210					0	0	0.134883	0	0
SEPT14	346288	broad.mit.edu	37	7	55912411	55912411	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:55912411C>A	ENST00000388975.3	-	4	292	c.175_splice	c.e4-1	p.G59_splice	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	59					cell cycle|cell division	septin complex	GTP binding|protein binding	p.G59V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCAGTCTCCCCTGTAATAGA	0.343000													5	42					0.014758	0.0154133	0.184627	1	0
AGPAT9	84803	broad.mit.edu	37	4	84516068	84516068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:84516068G>T	ENST00000395226.2	+	8	1027	c.809G>T	c.(808-810)tGg>tTg	p.W270L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.W270L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	270					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.W270L(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTCATGTCTGGTTTGAACGC	0.438000													53	225					6.14515e-18	9.17093e-18	0.139131	1	0
TMTC3	160418	broad.mit.edu	37	12	88589425	88589425	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:88589425A>T	ENST00000266712.6	+	14	2964	c.2744A>T	c.(2743-2745)tAa>tTa	p.*915L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	0						integral to membrane	binding	p.*915L(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGGTGAATAACATTAATAT	0.323000													16	37					0	0	0.146539	0	0
ZNF835	90485	broad.mit.edu	37	19	57175089	57175089	+	Missense_Mutation	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:57175089T>C	ENST00000537055.2	-	2	1709	c.1478A>G	c.(1477-1479)cAg>cGg	p.Q493R		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.Q515R(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ATGCGTCCTCTGGTGTCGGAT	0.627000													51	232					0	0	0.139131	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303330	153303330	+	Silent	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:153303330C>A	ENST00000368739.3	-	9	1381	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L	PGLYRP4_ENST00000359650.5_Silent_p.L345L			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	345					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	p.L345L(2)		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)			TGTGGCCCACCAGCAGGTAGT	0.552000													77	206					8.50452e-49	1.56761e-48	0.139131	1	0
ITGA1	3672	broad.mit.edu	37	5	52211398	52211398	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:52211398G>T	ENST00000282588.6	+	15	2420	c.1962G>T	c.(1960-1962)ggG>ggT	p.G654G		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	654					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.G654G(2)		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)				TGACTATTGGGGGCCTTGGTG	0.463000													94	186					7.39617e-15	1.02328e-14	0.139131	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													7	198					0	0	0.248553	0	0
GPHN	10243	broad.mit.edu	37	14	67579829	67579829	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:67579829G>T	ENST00000478722.1	+	16	2688	c.1567G>T	c.(1567-1569)Gtc>Ttc	p.V523F	GPHN_ENST00000315266.5_Missense_Mutation_p.V490F|GPHN_ENST00000543237.1_Missense_Mutation_p.V536F|GPHN_ENST00000305960.9_Missense_Mutation_p.V459F|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	490	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.V523F(2)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTGTAGGTGTCACAGAGGT	0.468000			T	MLL	AL								27	103					9.04412e-07	1.06359e-06	0.099896	1	0
FBXO16	157574	broad.mit.edu	37	8	28309761	28309761	+	Splice_Site	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:28309761C>A	ENST00000380254.2	-	6	888	c.740_splice	c.e6+1	p.G247_splice	FBXO16_ENST00000518734.1_Splice_Site_p.G235_splice|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000346498.2_Splice_Site_p.G235_splice|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	247								p.G247V(2)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		AGCTTCTTACCCTTGCTGGAC	0.403000													15	48					2.62699e-14	3.60904e-14	0.132662	1	0
LRRC4	64101	broad.mit.edu	37	7	127670602	127670602	+	Missense_Mutation	SNP	A	A	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:127670602A>G	ENST00000249363.3	-	2	349	c.92T>C	c.(91-93)cTg>cCg	p.L31P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	31						cell junction|integral to membrane|postsynaptic membrane		p.L31P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGCTGCACACAGAATCCACAC	0.622000													79	66					0	0	0.139131	0	0
TRPA1	8989	broad.mit.edu	37	8	72948572	72948572	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:72948572C>A	ENST00000262209.4	-	21	2713	c.2506G>T	c.(2506-2508)Gca>Tca	p.A836S	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	836						integral to plasma membrane		p.A836S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACAGCAATTGCTCCACATTGC	0.348000													18	69					1.37522e-17	2.03174e-17	0.189662	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395968	38395968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:38395968G>T	ENST00000377698.3	+	2	376	c.223G>T	c.(223-225)Gat>Tat	p.D75Y		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	75					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.D75C(2)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGACCGGGCTGATGTGGATCG	0.642000													35	135					3.43241e-23	5.59075e-23	0.279185	1	0
PIWIL2	55124	broad.mit.edu	37	8	22175745	22175745	+	Missense_Mutation	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:22175745G>C	ENST00000356766.6	+	20	2508	c.2360G>C	c.(2359-2361)aGc>aCc	p.S787T	PIWIL2_ENST00000454009.2_Missense_Mutation_p.S787T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.S787T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	787	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.S787T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTGTGGACAGCCTGAAGCTA	0.453000													22	67					0	0	0.116897	0	0
HR	55806	broad.mit.edu	37	8	21976735	21976735	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:21976735C>G	ENST00000381418.4	-	15	4519	c.3039G>C	c.(3037-3039)ctG>ctC	p.L1013L	HR_ENST00000312841.8_Silent_p.L1013L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1013	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.L1013L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGATGCTGACCAGGTCGGCCA	0.602000													16	70					0	0	0.146539	0	0
DLAT	1737	broad.mit.edu	37	11	111896296	111896296	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:111896296G>A	ENST00000280346.6	+	1	759	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	DLAT_ENST00000393051.1_Missense_Mutation_p.V34M	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	34					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	p.V34M(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	AACTCCACGAGTGACCTCGCG	0.682000													5	58					0	0	0.184627	0	0
FEV	54738	broad.mit.edu	37	2	219846816	219846816	+	Missense_Mutation	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:219846816T>A	ENST00000295727.1	-	3	871	c.290A>T	c.(289-291)aAc>aTc	p.N97I		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	97					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.N97I(2)	EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTCGTAGTTCATGTTGGG	0.642000			T	"""EWSR1,  FUS"""	Ewing sarcoma								33	52					0	0	0.153744	0	0
ESRP2	80004	broad.mit.edu	37	16	68265245	68265245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:68265245G>A	ENST00000473183.2	-	12	2085	c.1547C>T	c.(1546-1548)aCa>aTa	p.T516I	ESRP2_ENST00000565858.1_Missense_Mutation_p.T526I			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	526	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	p.T516I(4)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CTCTGCTGATGTCATCTGAAT	0.562000													25	27					0	0	0.279207	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585744	178585744	+	Missense_Mutation	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:178585744A>C	ENST00000251582.7	-	6	1213	c.1112T>G	c.(1111-1113)tTt>tGt	p.F371C	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.F371C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	371	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.F371C(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGAAGGCCCAAAGTCCTGCCG	0.627000													15	176					0	0	0.119110	0	0
PCNX	22990	broad.mit.edu	37	14	71413833	71413833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:71413833G>T	ENST00000304743.2	+	2	801	c.355G>T	c.(355-357)Gga>Tga	p.G119*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.G119*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.G119*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	119						integral to membrane		p.G119*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGACAGCAATGGACCGAGGTA	0.373000													7	15					0.00198382	0.00212088	0.248553	1	0
SHPRH	257218	broad.mit.edu	37	6	146247376	146247376	+	Silent	SNP	T	T	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:146247376T>A	ENST00000367503.3	-	16	3683	c.3285A>T	c.(3283-3285)atA>atT	p.I1095I	SHPRH_ENST00000367505.2_Silent_p.I1086I|SHPRH_ENST00000275233.7_Silent_p.I1086I|SHPRH_ENST00000438092.2_Silent_p.I1095I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1086					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.I1095I(2)		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)		AGGTAGGTGGTATCCCTGGGT	0.378000													35	110					0	0	0.203993	0	0
STXBP5	134957	broad.mit.edu	37	6	147631360	147631360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:147631360C>T	ENST00000367481.3	+	10	1166	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	STXBP5_ENST00000179882.6_Missense_Mutation_p.T24I|STXBP5_ENST00000321680.6_Missense_Mutation_p.T353I|STXBP5_ENST00000367480.3_Missense_Mutation_p.T353I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	353					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.T353I(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTGTGTGAAACACCATACCCA	0.353000													24	64					0	0	0.249174	0	0
ZZZ3	26009	broad.mit.edu	37	1	78047770	78047770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:78047770C>A	ENST00000370801.3	-	7	2161	c.1686G>T	c.(1684-1686)ttG>ttT	p.L562F	ZZZ3_ENST00000370798.1_Missense_Mutation_p.L68F|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L562F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CGATCTCAGGCAATTGAACAA	0.343000													38	163					1.41504e-22	2.27333e-22	0.301197	1	0
MIDN	90007	broad.mit.edu	37	19	1254919	1254919	+	Missense_Mutation	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:1254919A>T	ENST00000300952.2	+	6	1230	c.715A>T	c.(715-717)Acg>Tcg	p.T239S	MIDN_ENST00000591446.2_Missense_Mutation_p.T239S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	239						nucleolus		p.T239S(2)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTCCCCCACGGCCAGCAG	0.667000													50	110					0	0	0.139131	0	0
TPTE	7179	broad.mit.edu	37	21	10970037	10970037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr21:10970037C>A	ENST00000298232.7	-	6	458	c.91G>T	c.(91-93)Gca>Tca	p.A31S	TPTE_ENST00000361285.4_Missense_Mutation_p.A31S|TPTE_ENST00000342420.5_Missense_Mutation_p.A31S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	31					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A31S(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTCGGTTGCTCCTTTAAAT	0.393000													33	224					2.49991e-28	4.3107e-28	0.183431	1	0
ASPG	374569	broad.mit.edu	37	14	104552111	104552111	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:104552111G>T	ENST00000551177.1	+	1	96	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	ASPG_ENST00000455920.2_Missense_Mutation_p.A2S|ASPG_ENST00000546892.2_Missense_Mutation_p.A2S	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	2					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.A2S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCCGGCATGGCGCGCGCGGT	0.771000													7	7					0.00136819	0.00147344	0.093190	1	0
CDH6	1004	broad.mit.edu	37	5	31323317	31323317	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:31323317G>T	ENST00000265071.2	+	12	2540	c.2275G>T	c.(2275-2277)Gat>Tat	p.D759Y		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	759					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D759Y(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGACCACGGATGCAGATCA	0.537000													25	98					5.35356e-11	6.93368e-11	0.264190	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202406948	202406948	+	Splice_Site	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:202406948G>T	ENST00000406302.3	+	10	1407		c.e10-1		PPP1R12B_ENST00000356764.2_Splice_Site|PPP1R12B_ENST00000480184.1_Splice_Site|PPP1R12B_ENST00000336894.4_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCTCTCATAGTTCTCTTCTG	0.408000													24	113					9.95505e-16	1.41391e-15	0.249174	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020658	33020658	+	RNA	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:33020658G>C	ENST00000565407.2	+	0	66				RP11-19N8.2_ENST00000567619.1_RNA														p.Q22H(2)									GTGAGGTGCAGCTGGTGGAGT	0.547000													61	88					0	0	0.139131	0	0
SLC12A2	6558	broad.mit.edu	37	5	127483407	127483407	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:127483407C>T	ENST00000262461.2	+	11	2056	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.P623S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	623					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	p.P623S(2)		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)	AGTGAGTGCTCCCAAAATATT	0.323000													20	197					0	0	0.189662	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19638158	19638158	+	Missense_Mutation	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:19638158G>T	ENST00000555938.1	+	3	254	c.242G>T	c.(241-243)cGg>cTg	p.R81L	NDUFA13_ENST00000507754.3_Missense_Mutation_p.R81L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Missense_Mutation_p.R81L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R164L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.R81L														p.R164L(2)									GAAACCGACCGGAGGTAGCAC	0.632000													5	40					0.0215528	0.0223905	0.217242	1	0
ERLEC1	27248	broad.mit.edu	37	2	54045035	54045035	+	Splice_Site	SNP	G	G	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:54045035G>A	ENST00000185150.4	+	14	1512	c.1380_splice	c.e14-1	p.V461_splice	ERLEC1_ENST00000405123.3_Splice_Site_p.V435_splice|ERLEC1_ENST00000378239.5_Splice_Site_p.V407_splice|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	461					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.V461I(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTTCTTTAGGTTGAATCTCC	0.338000													22	74					0	0	0.264190	0	0
TAAR2	9287	broad.mit.edu	37	6	132938808	132938808	+	Silent	SNP	G	G	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:132938808G>T	ENST00000275191.2	-	1	509	c.402C>A	c.(400-402)gtC>gtA	p.V134V	TAAR2_ENST00000537809.1_Silent_p.V134V|TAAR2_ENST00000367931.1_Silent_p.V179V	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	179						plasma membrane	G-protein coupled receptor activity	p.V179V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTCTGAGAAGACCACCCCGA	0.463000													34	46					1.99505e-19	3.04699e-19	0.163468	1	0
ITCH	83737	broad.mit.edu	37	20	33067498	33067498	+	Silent	SNP	A	A	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr20:33067498A>T	ENST00000374864.4	+	18	1935	c.1722A>T	c.(1720-1722)gcA>gcT	p.A574A	ITCH_ENST00000535650.1_Silent_p.A464A|ITCH_ENST00000262650.6_Silent_p.A615A|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	615	HECT.|MAP kinase docking site (By similarity).				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.A574A(2)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTGAATATGCAGGGAAGGATA	0.353000													35	129					0	0	0.173368	0	0
NPIPB4	440345	broad.mit.edu	37	16	21854852	21854852	+	Missense_Mutation	SNP	C	C	T			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:21854852C>T	ENST00000415645.2	-	4	439	c.400G>A	c.(400-402)Gga>Aga	p.G134R	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.G134R					nuclear pore complex interacting protein family, member B4									p.G1454R(2)									ATTTTATTTCCTCGAAAGGAA	0.423000													33	491					0	0	0.183431	0	0
UPF1	5976	broad.mit.edu	37	19	18968170	18968170	+	Silent	SNP	G	G	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:18968170G>C	ENST00000262803.5	+	15	2282	c.2010G>C	c.(2008-2010)gtG>gtC	p.V670V	UPF1_ENST00000599848.1_Silent_p.V681V	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	681					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.V670V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCAGTGGTGATGTGCAAGA	0.627000													29	118					0	0	0.125774	0	0
GALR1	2587	broad.mit.edu	37	18	74963085	74963085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr18:74963085C>A	ENST00000299727.3	+	1	581	c.581C>A	c.(580-582)cCt>cAt	p.P194H		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	194					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.P194N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGCCCGACCCTCGCCACAAG	0.662000													26	90					1.32181e-22	2.12938e-22	0.125774	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142481271	142481271	+	RNA	SNP	A	A	C			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:142481271A>C	ENST00000603901.1	+	0	345					NR_001296.3																						AGCTCTCCACACCTGCCGTCA	0.537000													6	32					0	0	0.219247	0	0
LAMA2	3908	broad.mit.edu	37	6	129649485	129649485	+	Silent	SNP	C	C	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:129649485C>G	ENST00000421865.2	+	29	4288	c.4239C>G	c.(4237-4239)acC>acG	p.T1413T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1413	Laminin EGF-like 14; second part.				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.T1413T(2)		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)		CTGGACCAACCCTGGGCACCT	0.517000													50	90					0	0	0.139131	0	0
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	rs66614970	by1000genomes	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENST00000314675.7	-	11	1229_1252	c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1150-1173)del	p.GPGPGPSP384del	UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	504						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714													9	86	---	---	---	---					
LHX8	431707	broad.mit.edu	37	1	75596416	75596416	+	Splice_Site	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:75596416delG	ENST00000294638.5	+	2	681	c.18_splice	c.e2+1	p.R6_splice	RP11-510C10.3_ENST00000427892.1_RNA|RP11-510C10.2_ENST00000446238.1_RNA	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATTCTGAGCAGGGTAAGTTTG	0.448													59	183	---	---	---	---					
ASTN1	460	broad.mit.edu	37	1	176927566	176927566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176927566delC	ENST00000367654.2	-	10	1688	c.1675delG	c.(1675-1677)tgfs	p.V559fs	ASTN1_ENST00000367657.3_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000424564.2_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Frame_Shift_Del_p.V551fs			O14525	ASTN1_HUMAN	astrotactin 1	559					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGAATCACAAAGCTCTTG	0.557													25	61	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240371236	240371236	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:240371236delC	ENST00000319653.9	+	5	3354	c.3124delC	c.(3124-3126)ccfs	p.P1046fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1046	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCC	0.726													3	6	---	---	---	---					
HS6ST1	9394	broad.mit.edu	37	2	129026217	129026217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:129026217delC	ENST00000259241.6	-	2	768	c.755delG	c.(754-756)ccfs	p.R252fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	252					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCCAGCATGCGCACCTGGCG	0.657													12	44	---	---	---	---					
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													55	133	---	---	---	---					
PDZRN3	23024	broad.mit.edu	37	3	73433097	73433098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:73433097_73433098insA	ENST00000263666.4	-	10	2733_2734	c.2619_2620insT	c.(2617-2622)atcggcfs	p.G874fs	PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.G531fs|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.G591fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.G596fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.G531fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	874							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTGCGCCGGGATGTGCGCGT	0.649													18	124	---	---	---	---					
UGT3A1	133688	broad.mit.edu	37	5	35988559	35988560	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:35988559_35988560insA	ENST00000274278.3	-	2	545_546	c.188_189insT	c.(187-189)tatfs	p.Y63fs	UGT3A1_ENST00000333811.4_Frame_Shift_Ins_p.Y9fs|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Frame_Shift_Ins_p.Y63fs|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	63						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCTGGGATCAAAAACTTTCC	0.327													19	43	---	---	---	---					
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)ctfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATCCTCACCCTTTTTTTCCCT	0.418													9	503	---	---	---	---					
SPINK5	11005	broad.mit.edu	37	5	147443647	147443647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:147443647delC	ENST00000359874.3	+	1	113	c.40delC	c.(40-42)ttfs	p.L14fs	SPINK5_ENST00000256084.7_Frame_Shift_Del_p.L14fs|SPINK5_ENST00000398454.1_Frame_Shift_Del_p.L14fs	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	14					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTGGCTCTTTGCCTCAT	0.507													19	160	---	---	---	---					
GPRIN1	114787	broad.mit.edu	37	5	176026665	176026665	+	Frame_Shift_Del	DEL	G	G	-	rs139277418	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176026665delG	ENST00000303991.4	-	2	348	c.171delC	c.(169-171)ccfs	p.P57fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	57						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGTGCCTGGGGGGTGCAG	0.662													44	301	---	---	---	---					
CMTR1	23070	broad.mit.edu	37	6	37430722	37430722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:37430722delC	ENST00000373451.4	+	13	1607	c.1443delC	c.(1441-1443)gtfs	p.V481fs		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		481					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTTGGTGGTCCCCCTGGAGG	0.498													74	168	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100352835	100352836	+	RNA	INS	-	-	G	rs145118358	by1000genomes	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr7:100352835_100352836insG	ENST00000542585.1	+	0	3272				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGACAGAGGCTGTTTTCCCCTT	0.545													14	224	---	---	---	---					
LOC101929066	101929066	broad.mit.edu	37	8	17947397	17947398	+	RNA	INS	-	-	TT	rs148283356		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:17947397_17947398insTT	ENST00000499554.2	+	0	483				CTD-2547L16.1_ENST00000521775.1_RNA																							TAATGCTAttcttttttttttt	0.376													2	4	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													7	82	---	---	---	---					
OR4C16	219428	broad.mit.edu	37	11	55339717	55339717	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:55339717delG	ENST00000314634.3	+	1	114	c.114delG	c.(112-114)ttfs	p.L38fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAACACTGTTGGGTAATTTGC	0.373													41	164	---	---	---	---					
OR5R1	219479	broad.mit.edu	37	11	56185244	56185244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56185244delA	ENST00000312253.1	-	1	464	c.465delT	c.(463-465)gtfs	p.V155fs		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAAGAGGGCAACCAGGAAGC	0.453													25	59	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276660	71276661	+	In_Frame_Ins	INS	-	-	TGTGGCTCCGGCTGTGGGGGC	rs141048398		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:71276660_71276661insTGTGGCTCCGGCTGTGGGGGC	ENST00000398531.1	+	1	52_53	c.27_28insTGTGGCTCCGGCTGTGGGGGC	c.(25-30)gggtgg>ggTGTGGCTCCGGCTGTGGGGGCgtgg	p.9_10GW>GVAPAVGAW	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.9_10GW>GVAPAVGAW	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	9						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCGGAGGCTGTGGCTCCGG	0.663													43	130	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113711406	113711406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:113711406delG	ENST00000550785.1	+	11	1260	c.1091delG	c.(1090-1092)cgfs	p.R364fs	TPCN1_ENST00000335509.6_Frame_Shift_Del_p.R292fs|TPCN1_ENST00000392569.4_Frame_Shift_Del_p.R224fs|TPCN1_ENST00000541517.1_Frame_Shift_Del_p.R364fs	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	292						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTACTCCCGGAACCCCTGG	0.537													93	248	---	---	---	---					
PPP2R5E	5529	broad.mit.edu	37	14	64006248	64006248	+	Splice_Site	DEL	T	T	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:64006248delT	ENST00000337537.3	-	2	758	c.157_splice	c.e2+1	p.K52_splice	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.K52_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	52					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GAGCCTTACCTTTTAGCAGCG	0.398													30	127	---	---	---	---					
NRXN3	9369	broad.mit.edu	37	14	79181428	79181429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:79181428_79181429insA	ENST00000554719.1	+	5	1362_1363	c.871_872insA	c.(871-873)cttfs	p.L291fs	NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.L291fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGCTGGAACCGCTTCATCTGC	0.584													26	85	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													12	89	---	---	---	---					
CATSPER2	117155	broad.mit.edu	37	15	43940260	43940260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:43940260delG	ENST00000381761.1	-	2	31	c.18delC	c.(16-18)gafs	p.D6fs	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_5'UTR|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000355438.2_5'UTR|CATSPER2_ENST00000321596.5_5'UTR|CATSPER2_ENST00000354127.4_5'UTR			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCGGCCATGTCTGCTAAGA	0.473													118	251	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267																											CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578													12	14	---	---	---	---					
TSC2	7249	broad.mit.edu	37	16	2114374	2114374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2114374delG	ENST00000219476.3	+	15	2175	c.1545delG	c.(1543-1545)ctfs	p.L515fs	TSC2_ENST00000401874.2_Frame_Shift_Del_p.L515fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.L515fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.L466fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.L526fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.L478fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.L515fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	515					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTGGACCTGGCAGAGGGCT	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				93	136	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49672282	49672282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:49672282delC	ENST00000561648.1	-	4	834	c.781delG	c.(781-783)acfs	p.D262fs	ZNF423_ENST00000562520.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.D262fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.D145fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	262					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGAAGTCGTCCTTCTTGGCT	0.607													30	48	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193314	7193314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:7193314delG	ENST00000007699.5	-	6	884	c.821delC	c.(820-822)cgfs	p.P275fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	275	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GAATCTGGGCGGGGGGACTCG	0.627													34	101	---	---	---	---					
MYH8	4626	broad.mit.edu	37	17	10303967	10303967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:10303967delC	ENST00000403437.2	-	27	3569	c.3475delG	c.(3475-3477)cafs	p.A1159fs	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1159					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAGAAGTTGCCCCACCGGCT	0.607									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				62	195	---	---	---	---					
MYO18A	399687	broad.mit.edu	37	17	27448150	27448150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:27448150delG	ENST00000527372.1	-	6	1631	c.1451delC	c.(1450-1452)ggfs	p.A484fs	MYO18A_ENST00000354329.4_Frame_Shift_Del_p.A484fs|MYO18A_ENST00000533112.1_Frame_Shift_Del_p.A484fs|MYO18A_ENST00000531253.1_Frame_Shift_Del_p.A484fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	484	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATCAGCATCGCCCTGTATGC	0.597													13	17	---	---	---	---					
INTS2	57508	broad.mit.edu	37	17	59946733	59946733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:59946733delT	ENST00000444766.3	-	22	3138	c.3063delA	c.(3061-3063)ccfs	p.P1021fs	INTS2_ENST00000251334.6_Frame_Shift_Del_p.P1013fs	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1021					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAAGTTCACATGGATAACCCT	0.363													3	6	---	---	---	---					
LOC400684	400684	broad.mit.edu	37	19	32882998	32882998	+	RNA	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:32882998delA	ENST00000592680.1	-	0	667					NR_046201.1																						agagaaagagaaaaaaaaaaa	0.498													2	4	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													12	351	---	---	---	---					
NONO	4841	broad.mit.edu	37	X	70514295	70514295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:70514295delA	ENST00000535149.1	+	3	943	c.300delA	c.(298-300)ggfs	p.G100fs	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Frame_Shift_Del_p.G189fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.G189fs|NONO_ENST00000276079.8_Frame_Shift_Del_p.G189fs	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	189	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGCCCTCAGGAAAAGGCATTG	0.512			T	TFE3	papillary renal cancer								25	42	---	---	---	---					
LHX8	431707	broad.mit.edu	37	1	75596416	75596416	+	Splice_Site	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:75596416delG	ENST00000294638.5	+	2	681	c.18_splice	c.e2+1	p.R6_splice	RP11-510C10.2_ENST00000446238.1_RNA|RP11-510C10.3_ENST00000427892.1_RNA	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATTCTGAGCAGGGTAAGTTTG	0.448													38	138	---	---	---	---					
ASTN1	460	broad.mit.edu	37	1	176927566	176927566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr1:176927566delC	ENST00000367654.2	-	10	1688	c.1675delG	c.(1675-1677)tgfs	p.V559fs	ASTN1_ENST00000424564.2_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000361833.2_Frame_Shift_Del_p.V551fs			O14525	ASTN1_HUMAN	astrotactin 1	559					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGAATCACAAAGCTCTTG	0.557													23	50	---	---	---	---					
AC011747.6	0	broad.mit.edu	37	2	8763017	8763018	+	RNA	INS	-	-	AC	rs34493394	by1000genomes	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:8763017_8763018insAC	ENST00000425678.1	-	0	54_55																											TAGacagacagacacacacaca	0.535													2	4	---	---	---	---					
HS6ST1	9394	broad.mit.edu	37	2	129026217	129026217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr2:129026217delC	ENST00000259241.6	-	2	768	c.755delG	c.(754-756)ccfs	p.R252fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	252					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCCAGCATGCGCACCTGGCG	0.657													12	44	---	---	---	---					
PDZRN3	23024	broad.mit.edu	37	3	73433097	73433098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr3:73433097_73433098insA	ENST00000263666.4	-	10	2733_2734	c.2619_2620insT	c.(2617-2622)atcggcfs	p.G874fs	PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.G531fs|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.G591fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.G531fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.G596fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	874							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTGCGCCGGGATGTGCGCGT	0.649													31	148	---	---	---	---					
FGFR3	2261	broad.mit.edu	37	4	1807542	1807543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr4:1807542_1807543insG	ENST00000340107.4	+	13	1973_1974	c.1717_1718insG	c.(1717-1719)gccfs	p.A573fs	FGFR3_ENST00000260795.2_Frame_Shift_Ins_p.A571fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.A572fs|FGFR3_ENST00000412135.2_Frame_Shift_Ins_p.A459fs|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.A571fs|FGFR3_ENST00000352904.1_Frame_Shift_Ins_p.A459fs	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	571	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	gcgggcgcggcggcccccgggc	0.703		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				7	201	---	---	---	---					
UGT3A1	133688	broad.mit.edu	37	5	35988559	35988560	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:35988559_35988560insA	ENST00000274278.3	-	2	545_546	c.188_189insT	c.(187-189)tatfs	p.Y63fs	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Frame_Shift_Ins_p.Y9fs|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000503189.1_Frame_Shift_Ins_p.Y63fs	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	63						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCTGGGATCAAAAACTTTCC	0.327													20	60	---	---	---	---					
SPINK5	11005	broad.mit.edu	37	5	147443647	147443647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:147443647delC	ENST00000359874.3	+	1	113	c.40delC	c.(40-42)ttfs	p.L14fs	SPINK5_ENST00000398454.1_Frame_Shift_Del_p.L14fs|SPINK5_ENST00000256084.7_Frame_Shift_Del_p.L14fs	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	14					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTGGCTCTTTGCCTCAT	0.507													31	397	---	---	---	---					
GPRIN1	114787	broad.mit.edu	37	5	176026665	176026665	+	Frame_Shift_Del	DEL	G	G	-	rs139277418	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr5:176026665delG	ENST00000303991.4	-	2	348	c.171delC	c.(169-171)ccfs	p.P57fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	57						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGTGCCTGGGGGGTGCAG	0.662													48	340	---	---	---	---					
CMTR1	23070	broad.mit.edu	37	6	37430722	37430722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr6:37430722delC	ENST00000373451.4	+	13	1607	c.1443delC	c.(1441-1443)gtfs	p.V481fs		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		481					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTTGGTGGTCCCCCTGGAGG	0.498													71	162	---	---	---	---					
TAF2	6873	broad.mit.edu	37	8	120774751	120774781	+	Frame_Shift_Del	DEL	TTATCCAAAGTTCTAACTTCATTATTCACAC	TTATCCAAAGTTCTAACTTCATTATTCACAC	-	rs117420905	by1000genomes	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr8:120774751_120774781delTTATCCAAAGTTCTAACTTCATTATTCACAC	ENST00000378164.2	-	19	2730_2760	c.2432_2462delGTGTGAATAATGAAGTTAGAACTTTGGATAA	c.(2431-2463)acfs	p.SVNNEVRTLDN811fs	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	811					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGATTTAAGTTATCCAAAGTTCTAACTTCATTATTCACACTGACTGCAGG	0.368													8	64	---	---	---	---					
FOXD4L5	653427	broad.mit.edu	37	9	70177793	70177794	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr9:70177793_70177794insA	ENST00000377420.1	-	1	1021_1022	c.190_191insT	c.(190-192)gggfs	p.G64fs		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	64					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						AACCCCGCCCCACCGGGCCACC	0.668													10	52	---	---	---	---					
OR4C16	219428	broad.mit.edu	37	11	55339717	55339717	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:55339717delG	ENST00000314634.3	+	1	114	c.114delG	c.(112-114)ttfs	p.L38fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAACACTGTTGGGTAATTTGC	0.373													69	200	---	---	---	---					
OR5R1	219479	broad.mit.edu	37	11	56185244	56185244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr11:56185244delA	ENST00000312253.1	-	1	464	c.465delT	c.(463-465)gtfs	p.V155fs		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAAGAGGGCAACCAGGAAGC	0.453													29	129	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113711406	113711406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr12:113711406delG	ENST00000550785.1	+	11	1260	c.1091delG	c.(1090-1092)cgfs	p.R364fs	TPCN1_ENST00000335509.6_Frame_Shift_Del_p.R292fs|TPCN1_ENST00000541517.1_Frame_Shift_Del_p.R364fs|TPCN1_ENST00000392569.4_Frame_Shift_Del_p.R224fs	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	292						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTACTCCCGGAACCCCTGG	0.537													76	279	---	---	---	---					
PPP2R5E	5529	broad.mit.edu	37	14	64006248	64006248	+	Splice_Site	DEL	T	T	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:64006248delT	ENST00000337537.3	-	2	758	c.157_splice	c.e2+1	p.K52_splice	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.K52_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	52					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GAGCCTTACCTTTTAGCAGCG	0.398													46	142	---	---	---	---					
NRXN3	9369	broad.mit.edu	37	14	79181428	79181429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:79181428_79181429insA	ENST00000554719.1	+	5	1362_1363	c.871_872insA	c.(871-873)cttfs	p.L291fs	NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.L291fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGCTGGAACCGCTTCATCTGC	0.584													27	86	---	---	---	---					
MIR381HG	378881	broad.mit.edu	37	14	101512142	101512142	+	RNA	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr14:101512142delC	ENST00000553692.1	+	0	28																											GTGGTGTTTGCCACCTGGTCT	0.642													3	4	---	---	---	---					
CATSPER2	117155	broad.mit.edu	37	15	43940260	43940260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr15:43940260delG	ENST00000381761.1	-	2	31	c.18delC	c.(16-18)gafs	p.D6fs	CATSPER2_ENST00000321596.5_5'UTR|CATSPER2_ENST00000354127.4_5'UTR|CATSPER2_ENST00000464721.1_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_5'UTR|CATSPER2_ENST00000355438.2_5'UTR			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCGGCCATGTCTGCTAAGA	0.473													73	170	---	---	---	---					
TSC2	7249	broad.mit.edu	37	16	2114374	2114374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:2114374delG	ENST00000219476.3	+	15	2175	c.1545delG	c.(1543-1545)ctfs	p.L515fs	TSC2_ENST00000353929.4_Frame_Shift_Del_p.L515fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.L466fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.L478fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.L515fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.L526fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.L515fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	515					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTGGACCTGGCAGAGGGCT	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				62	111	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49672282	49672282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr16:49672282delC	ENST00000561648.1	-	4	834	c.781delG	c.(781-783)acfs	p.D262fs	ZNF423_ENST00000563137.2_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.D262fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.D202fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	262					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGAAGTCGTCCTTCTTGGCT	0.607													24	52	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193314	7193314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:7193314delG	ENST00000007699.5	-	6	884	c.821delC	c.(820-822)cgfs	p.P275fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	275	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GAATCTGGGCGGGGGGACTCG	0.627													28	97	---	---	---	---					
MYH8	4626	broad.mit.edu	37	17	10303967	10303967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chr17:10303967delC	ENST00000403437.2	-	27	3569	c.3475delG	c.(3475-3477)cafs	p.A1159fs	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1159					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAGAAGTTGCCCCACCGGCT	0.607									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				55	192	---	---	---	---					
NONO	4841	broad.mit.edu	37	X	70514295	70514295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	b31338fd-60d8-48c2-ab4d-cb5064995245	g.chrX:70514295delA	ENST00000535149.1	+	3	943	c.300delA	c.(298-300)ggfs	p.G100fs	NONO_ENST00000373856.3_Frame_Shift_Del_p.G189fs|NONO_ENST00000276079.8_Frame_Shift_Del_p.G189fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.G189fs|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	189	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGCCCTCAGGAAAAGGCATTG	0.512			T	TFE3	papillary renal cancer								26	46	---	---	---	---					
ASTN1	460	broad.mit.edu	37	1	176927566	176927566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176927566delC	ENST00000367654.2	-	10	1688	c.1675delG	c.(1675-1677)tgfs	p.V559fs	ASTN1_ENST00000361833.2_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000424564.2_Frame_Shift_Del_p.V551fs			O14525	ASTN1_HUMAN	astrotactin 1	559					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGAATCACAAAGCTCTTG	0.557													25	61	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240371236	240371236	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:240371236delC	ENST00000319653.9	+	5	3354	c.3124delC	c.(3124-3126)ccfs	p.P1046fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1046	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCC	0.726													3	6	---	---	---	---					
HS6ST1	9394	broad.mit.edu	37	2	129026217	129026217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:129026217delC	ENST00000259241.6	-	2	768	c.755delG	c.(754-756)ccfs	p.R252fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	252					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCCAGCATGCGCACCTGGCG	0.657													12	44	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aafs	p.K765fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	765	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378													9	124	---	---	---	---					
PDZRN3	23024	broad.mit.edu	37	3	73433097	73433098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:73433097_73433098insA	ENST00000263666.4	-	10	2733_2734	c.2619_2620insT	c.(2617-2622)atcggcfs	p.G874fs	PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.G596fs|PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.G591fs|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.G531fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.G531fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	874							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTGCGCCGGGATGTGCGCGT	0.649													18	124	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													8	349	---	---	---	---					
UGT3A1	133688	broad.mit.edu	37	5	35988559	35988560	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:35988559_35988560insA	ENST00000274278.3	-	2	545_546	c.188_189insT	c.(187-189)tatfs	p.Y63fs	UGT3A1_ENST00000503189.1_Frame_Shift_Ins_p.Y63fs|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000333811.4_Frame_Shift_Ins_p.Y9fs|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	63						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCTGGGATCAAAAACTTTCC	0.327													19	43	---	---	---	---					
SPINK5	11005	broad.mit.edu	37	5	147443647	147443647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:147443647delC	ENST00000359874.3	+	1	113	c.40delC	c.(40-42)ttfs	p.L14fs	SPINK5_ENST00000256084.7_Frame_Shift_Del_p.L14fs|SPINK5_ENST00000398454.1_Frame_Shift_Del_p.L14fs	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	14					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTGGCTCTTTGCCTCAT	0.507													19	160	---	---	---	---					
GPRIN1	114787	broad.mit.edu	37	5	176026665	176026665	+	Frame_Shift_Del	DEL	G	G	-	rs139277418	byFrequency	TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:176026665delG	ENST00000303991.4	-	2	348	c.171delC	c.(169-171)ccfs	p.P57fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	57						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGTGCCTGGGGGGTGCAG	0.662													44	301	---	---	---	---					
CMTR1	23070	broad.mit.edu	37	6	37430722	37430722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:37430722delC	ENST00000373451.4	+	13	1607	c.1443delC	c.(1441-1443)gtfs	p.V481fs		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		481					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTTGGTGGTCCCCCTGGAGG	0.498													74	168	---	---	---	---					
RP11-307P5.1	0	broad.mit.edu	37	6	148148559	148148559	+	RNA	DEL	A	A	-	rs56969147		TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:148148559delA	ENST00000427015.1	+	0	117																											GGAATGGGCGAAAAAAAAATC	0.383													4	6	---	---	---	---					
OR4C16	219428	broad.mit.edu	37	11	55339717	55339717	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:55339717delG	ENST00000314634.3	+	1	114	c.114delG	c.(112-114)ttfs	p.L38fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAACACTGTTGGGTAATTTGC	0.373													41	164	---	---	---	---					
OR5R1	219479	broad.mit.edu	37	11	56185244	56185244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56185244delA	ENST00000312253.1	-	1	464	c.465delT	c.(463-465)gtfs	p.V155fs		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAAGAGGGCAACCAGGAAGC	0.453													25	59	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113711406	113711406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:113711406delG	ENST00000550785.1	+	11	1260	c.1091delG	c.(1090-1092)cgfs	p.R364fs	TPCN1_ENST00000392569.4_Frame_Shift_Del_p.R224fs|TPCN1_ENST00000541517.1_Frame_Shift_Del_p.R364fs|TPCN1_ENST00000335509.6_Frame_Shift_Del_p.R292fs	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	292						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTACTCCCGGAACCCCTGG	0.537													93	248	---	---	---	---					
PPP2R5E	5529	broad.mit.edu	37	14	64006248	64006248	+	Splice_Site	DEL	T	T	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:64006248delT	ENST00000337537.3	-	2	758	c.157_splice	c.e2+1	p.K52_splice	PPP2R5E_ENST00000555899.1_Splice_Site_p.K52_splice|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	52					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GAGCCTTACCTTTTAGCAGCG	0.398													30	127	---	---	---	---					
NRXN3	9369	broad.mit.edu	37	14	79181428	79181429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:79181428_79181429insA	ENST00000554719.1	+	5	1362_1363	c.871_872insA	c.(871-873)cttfs	p.L291fs	NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.L291fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGCTGGAACCGCTTCATCTGC	0.584													26	85	---	---	---	---					
CATSPER2	117155	broad.mit.edu	37	15	43940260	43940260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:43940260delG	ENST00000381761.1	-	2	31	c.18delC	c.(16-18)gafs	p.D6fs	CATSPER2_ENST00000396879.1_5'UTR|CATSPER2_ENST00000355438.2_5'UTR|CATSPER2_ENST00000321596.5_5'UTR|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_5'UTR|CATSPER2_ENST00000464721.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCGGCCATGTCTGCTAAGA	0.473													118	251	---	---	---	---					
TSC2	7249	broad.mit.edu	37	16	2114374	2114374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:2114374delG	ENST00000219476.3	+	15	2175	c.1545delG	c.(1543-1545)ctfs	p.L515fs	TSC2_ENST00000568454.1_Frame_Shift_Del_p.L526fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.L515fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.L466fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.L515fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.L515fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.L478fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	515					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTGGACCTGGCAGAGGGCT	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				93	136	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49672282	49672282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:49672282delC	ENST00000561648.1	-	4	834	c.781delG	c.(781-783)acfs	p.D262fs	ZNF423_ENST00000562871.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000562520.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.D262fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	262					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGAAGTCGTCCTTCTTGGCT	0.607													30	48	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193314	7193314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:7193314delG	ENST00000007699.5	-	6	884	c.821delC	c.(820-822)cgfs	p.P275fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	275	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GAATCTGGGCGGGGGGACTCG	0.627													34	101	---	---	---	---					
MYH8	4626	broad.mit.edu	37	17	10303967	10303967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:10303967delC	ENST00000403437.2	-	27	3569	c.3475delG	c.(3475-3477)cafs	p.A1159fs	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1159					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAGAAGTTGCCCCACCGGCT	0.607									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				62	195	---	---	---	---					
MYO18A	399687	broad.mit.edu	37	17	27448150	27448150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:27448150delG	ENST00000527372.1	-	6	1631	c.1451delC	c.(1450-1452)ggfs	p.A484fs	MYO18A_ENST00000533112.1_Frame_Shift_Del_p.A484fs|MYO18A_ENST00000354329.4_Frame_Shift_Del_p.A484fs|MYO18A_ENST00000531253.1_Frame_Shift_Del_p.A484fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	484	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATCAGCATCGCCCTGTATGC	0.597													13	17	---	---	---	---					
INTS2	57508	broad.mit.edu	37	17	59946733	59946733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:59946733delT	ENST00000444766.3	-	22	3138	c.3063delA	c.(3061-3063)ccfs	p.P1021fs	INTS2_ENST00000251334.6_Frame_Shift_Del_p.P1013fs	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1021					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAAGTTCACATGGATAACCCT	0.363													3	6	---	---	---	---					
MLLT1	4298	broad.mit.edu	37	19	6222401	6222412	+	In_Frame_Del	DEL	GGGGTGGGGGTG	GGGGTGGGGGTG	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:6222401_6222412delGGGGTGGGGGTG	ENST00000252674.7	-	6	993_1004	c.830_841delCACCCCCACCCC	c.(829-843)cgg>c	p.PPPPR277del		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	277	Poly-Pro.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTGGAAGCCCggggtgggggtgggggtggggg	0.684			T	MLL	AL								3	5	---	---	---	---					
LOC400684	400684	broad.mit.edu	37	19	32882998	32882998	+	RNA	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr19:32882998delA	ENST00000592680.1	-	0	667					NR_046201.1																						agagaaagagaaaaaaaaaaa	0.498													2	4	---	---	---	---					
NONO	4841	broad.mit.edu	37	X	70514295	70514295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1105-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a6af0ab-9055-4b3a-a2cd-7d8202e08701	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:70514295delA	ENST00000535149.1	+	3	943	c.300delA	c.(298-300)ggfs	p.G100fs	NONO_ENST00000276079.8_Frame_Shift_Del_p.G189fs|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Frame_Shift_Del_p.G189fs|NONO_ENST00000373856.3_Frame_Shift_Del_p.G189fs	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	189	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGCCCTCAGGAAAAGGCATTG	0.512			T	TFE3	papillary renal cancer								25	42	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													9	336	---	---	---	---					
ASTN1	460	broad.mit.edu	37	1	176927566	176927566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr1:176927566delC	ENST00000367654.2	-	10	1688	c.1675delG	c.(1675-1677)tgfs	p.V559fs	ASTN1_ENST00000424564.2_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000361833.2_Frame_Shift_Del_p.V551fs|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Frame_Shift_Del_p.V551fs			O14525	ASTN1_HUMAN	astrotactin 1	559					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGAATCACAAAGCTCTTG	0.557													23	50	---	---	---	---					
HS6ST1	9394	broad.mit.edu	37	2	129026217	129026217	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:129026217delC	ENST00000259241.6	-	2	768	c.755delG	c.(754-756)ccfs	p.R252fs		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	252					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGCCAGCATGCGCACCTGGCG	0.657													12	44	---	---	---	---					
AC007563.5	0	broad.mit.edu	37	2	217637188	217637189	+	RNA	INS	-	-	AC	rs71054493		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr2:217637188_217637189insAC	ENST00000447289.1	+	0	510																											ccctatatcaaacacacacaca	0.495													2	4	---	---	---	---					
PDZRN3	23024	broad.mit.edu	37	3	73433097	73433098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr3:73433097_73433098insA	ENST00000263666.4	-	10	2733_2734	c.2619_2620insT	c.(2617-2622)atcggcfs	p.G874fs	PDZRN3_ENST00000479530.1_Frame_Shift_Ins_p.G591fs|PDZRN3_ENST00000535920.1_Frame_Shift_Ins_p.G596fs|PDZRN3_ENST00000462146.2_Frame_Shift_Ins_p.G531fs|PDZRN3_ENST00000466780.1_Frame_Shift_Ins_p.G531fs	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	874							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTGCGCCGGGATGTGCGCGT	0.649													31	148	---	---	---	---					
UGT3A1	133688	broad.mit.edu	37	5	35988559	35988560	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:35988559_35988560insA	ENST00000274278.3	-	2	545_546	c.188_189insT	c.(187-189)tatfs	p.Y63fs	UGT3A1_ENST00000503189.1_Frame_Shift_Ins_p.Y63fs|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000333811.4_Frame_Shift_Ins_p.Y9fs	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	63						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCTGGGATCAAAAACTTTCC	0.327													20	60	---	---	---	---					
SPINK5	11005	broad.mit.edu	37	5	147443647	147443647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:147443647delC	ENST00000359874.3	+	1	113	c.40delC	c.(40-42)ttfs	p.L14fs	SPINK5_ENST00000256084.7_Frame_Shift_Del_p.L14fs|SPINK5_ENST00000398454.1_Frame_Shift_Del_p.L14fs	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	14					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTGGCTCTTTGCCTCAT	0.507													31	397	---	---	---	---					
GPRIN1	114787	broad.mit.edu	37	5	176026665	176026665	+	Frame_Shift_Del	DEL	G	G	-	rs139277418	byFrequency	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr5:176026665delG	ENST00000303991.4	-	2	348	c.171delC	c.(169-171)ccfs	p.P57fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	57						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGTGCCTGGGGGGTGCAG	0.662													48	340	---	---	---	---					
CMTR1	23070	broad.mit.edu	37	6	37430722	37430722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr6:37430722delC	ENST00000373451.4	+	13	1607	c.1443delC	c.(1441-1443)gtfs	p.V481fs		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		481					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ACTTGGTGGTCCCCCTGGAGG	0.498													71	162	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													4	6	---	---	---	---					
TAF2	6873	broad.mit.edu	37	8	120774751	120774781	+	Frame_Shift_Del	DEL	TTATCCAAAGTTCTAACTTCATTATTCACAC	TTATCCAAAGTTCTAACTTCATTATTCACAC	-	rs117420905	by1000genomes	TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr8:120774751_120774781delTTATCCAAAGTTCTAACTTCATTATTCACAC	ENST00000378164.2	-	19	2730_2760	c.2432_2462delGTGTGAATAATGAAGTTAGAACTTTGGATAA	c.(2431-2463)acfs	p.SVNNEVRTLDN811fs	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	811					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGATTTAAGTTATCCAAAGTTCTAACTTCATTATTCACACTGACTGCAGG	0.368													8	64	---	---	---	---					
FOXD4L5	653427	broad.mit.edu	37	9	70177793	70177794	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr9:70177793_70177794insA	ENST00000377420.1	-	1	1021_1022	c.190_191insT	c.(190-192)gggfs	p.G64fs		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	64					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						AACCCCGCCCCACCGGGCCACC	0.668													10	52	---	---	---	---					
OR4C16	219428	broad.mit.edu	37	11	55339717	55339717	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:55339717delG	ENST00000314634.3	+	1	114	c.114delG	c.(112-114)ttfs	p.L38fs		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAACACTGTTGGGTAATTTGC	0.373													69	200	---	---	---	---					
OR5R1	219479	broad.mit.edu	37	11	56185244	56185244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:56185244delA	ENST00000312253.1	-	1	464	c.465delT	c.(463-465)gtfs	p.V155fs		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAAGAGGGCAACCAGGAAGC	0.453													29	129	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	ENST00000398531.1	+	1	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)gggctg>ggGGCTGTGGCTCCGGCTGTGGGgctg	p.7_8insGAVAPAV	KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.7_8insGAVAPAV	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	7						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668													105	68	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113711406	113711406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr12:113711406delG	ENST00000550785.1	+	11	1260	c.1091delG	c.(1090-1092)cgfs	p.R364fs	TPCN1_ENST00000541517.1_Frame_Shift_Del_p.R364fs|TPCN1_ENST00000392569.4_Frame_Shift_Del_p.R224fs|TPCN1_ENST00000335509.6_Frame_Shift_Del_p.R292fs	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	292						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTACTCCCGGAACCCCTGG	0.537													76	279	---	---	---	---					
PPP2R5E	5529	broad.mit.edu	37	14	64006248	64006248	+	Splice_Site	DEL	T	T	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:64006248delT	ENST00000337537.3	-	2	758	c.157_splice	c.e2+1	p.K52_splice	PPP2R5E_ENST00000555899.1_Splice_Site_p.K52_splice|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	52					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GAGCCTTACCTTTTAGCAGCG	0.398													46	142	---	---	---	---					
NRXN3	9369	broad.mit.edu	37	14	79181428	79181429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr14:79181428_79181429insA	ENST00000554719.1	+	5	1362_1363	c.871_872insA	c.(871-873)cttfs	p.L291fs	NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.L291fs	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGCTGGAACCGCTTCATCTGC	0.584													27	86	---	---	---	---					
CATSPER2	117155	broad.mit.edu	37	15	43940260	43940260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr15:43940260delG	ENST00000381761.1	-	2	31	c.18delC	c.(16-18)gafs	p.D6fs	CATSPER2_ENST00000354127.4_5'UTR|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_5'UTR|CATSPER2_ENST00000321596.5_5'UTR|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000396879.1_5'UTR			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCGGCCATGTCTGCTAAGA	0.473													73	170	---	---	---	---					
TSC2	7249	broad.mit.edu	37	16	2114374	2114374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:2114374delG	ENST00000219476.3	+	15	2175	c.1545delG	c.(1543-1545)ctfs	p.L515fs	TSC2_ENST00000401874.2_Frame_Shift_Del_p.L515fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.L515fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.L526fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.L478fs|TSC2_ENST00000350773.4_Frame_Shift_Del_p.L515fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.L466fs	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	515					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTGGACCTGGCAGAGGGCT	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				62	111	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													18	425	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49672282	49672282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr16:49672282delC	ENST00000561648.1	-	4	834	c.781delG	c.(781-783)acfs	p.D262fs	ZNF423_ENST00000562520.1_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000262383.2_Frame_Shift_Del_p.D262fs|ZNF423_ENST00000563137.2_Frame_Shift_Del_p.D202fs|ZNF423_ENST00000535559.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000567169.1_Frame_Shift_Del_p.D145fs|ZNF423_ENST00000562871.1_Frame_Shift_Del_p.D202fs	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	262					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGAAGTCGTCCTTCTTGGCT	0.607													24	52	---	---	---	---					
YBX2	51087	broad.mit.edu	37	17	7193314	7193314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:7193314delG	ENST00000007699.5	-	6	884	c.821delC	c.(820-822)cgfs	p.P275fs		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	275	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GAATCTGGGCGGGGGGACTCG	0.627													28	97	---	---	---	---					
MYH8	4626	broad.mit.edu	37	17	10303967	10303967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chr17:10303967delC	ENST00000403437.2	-	27	3569	c.3475delG	c.(3475-3477)cafs	p.A1159fs	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1159					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCAGAAGTTGCCCCACCGGCT	0.607									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				55	192	---	---	---	---					
NONO	4841	broad.mit.edu	37	X	70514295	70514295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-4112-01A-01D-1458-08	TCGA-44-4112-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136416f8-8354-47f9-ae52-08e885255a63	391b1a5a-48b1-45b3-a77a-cb674aca287f	g.chrX:70514295delA	ENST00000535149.1	+	3	943	c.300delA	c.(298-300)ggfs	p.G100fs	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Frame_Shift_Del_p.G189fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.G189fs|NONO_ENST00000373856.3_Frame_Shift_Del_p.G189fs	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	189	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGCCCTCAGGAAAAGGCATTG	0.512			T	TFE3	papillary renal cancer								26	46	---	---	---	---					
