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
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	4					0	0	0.009096	0	0
TEX15	56154	broad.mit.edu	37	8	30704189	30704189	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:30704189C>T	ENST00000256246.2	-	1	2419	c.2345G>A	c.(2344-2346)aGg>aAg	p.R782K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	782								p.R782K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAATCCTGGCCTAAATATATT	0.353000													8	85					0	0	0.047766	0	0
MFN1	55669	broad.mit.edu	37	3	179082125	179082125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:179082125G>C	ENST00000471841.1	+	6	703	c.577G>C	c.(577-579)Gat>Cat	p.D193H	MFN1_ENST00000263969.5_Missense_Mutation_p.D193H|MFN1_ENST00000280653.7_Missense_Mutation_p.D193H	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	193					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.D193H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAGCTGGATTGATAAGTTTTG	0.338000													5	57					0	0	0.021553	0	0
MFSD7	84179	broad.mit.edu	37	4	677066	677066	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:677066C>G	ENST00000322224.4	-	8	1397	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q	MFSD7_ENST00000515118.1_Missense_Mutation_p.E266Q|MFSD7_ENST00000347950.5_Missense_Mutation_p.E244Q|MFSD7_ENST00000404286.2_Missense_Mutation_p.E363Q|MFSD7_ENST00000503156.1_Missense_Mutation_p.E298Q			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	363					transmembrane transport	integral to membrane		p.E362Q(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						ACCGCCAACTCCATGGCCACG	0.667000													6	70					0	0	0.038147	0	0
BIRC6	57448	broad.mit.edu	37	2	32716552	32716552	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:32716552C>G	ENST00000421745.2	+	44	8401	c.8267C>G	c.(8266-8268)cCa>cGa	p.P2756R		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2756					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.P2728R(1)|p.P2756R(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTTTCAGATCCAAACCTAATT	0.388000													34	57					0	0	0.054565	0	0
ABCC3	8714	broad.mit.edu	37	17	48761083	48761083	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:48761083G>C	ENST00000285238.8	+	27	4000	c.3920G>C	c.(3919-3921)aGa>aCa	p.R1307T		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1307	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.R1307T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGGTGCTGAGAGACCTGAGT	0.647000													30	81					0	0	0.045705	0	0
OR7A5	26659	broad.mit.edu	37	19	14938677	14938677	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:14938677A>G	ENST00000322301.3	-	2	464	c.377T>C	c.(376-378)aTc>aCc	p.I126T	OR7A5_ENST00000594432.1_Missense_Mutation_p.I126T|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I126T(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGGGTGACAGATGGCCACAAA	0.483000													22	38					0	0	0.069288	0	0
ABCA13	154664	broad.mit.edu	37	7	48280473	48280473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:48280473C>T	ENST00000435803.1	+	10	1096	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	358					transport	integral to membrane	ATP binding|ATPase activity	p.Q358*(1)|p.Q303*(1)		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						GGTGTTTGTTCAGTGGCAACA	0.408000													23	51					0	0	0.083992	0	0
WLS	79971	broad.mit.edu	37	1	68620905	68620905	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:68620905G>A	ENST00000262348.4	-	4	796	c.543C>T	c.(541-543)gtC>gtT	p.V181V	WLS_ENST00000540432.1_Silent_p.V181V|WLS_ENST00000354777.2_Silent_p.V179V|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Silent_p.V90V	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	181	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	p.V179V(1)|p.V181V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGAAAGGAAGGACATCACATT	0.453000													38	40					0	0	0.080422	0	0
ASPM	259266	broad.mit.edu	37	1	197073873	197073873	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:197073873G>A	ENST00000367409.4	-	18	4764	c.4508C>T	c.(4507-4509)gCc>gTc	p.A1503V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1503					mitosis	cytoplasm|nucleus	calmodulin binding	p.A1503V(1)		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						TAACTTTTGGGCTTGAAAGCA	0.323000													11	81					0	0	0.069234	0	0
GBA	2629	broad.mit.edu	37	1	155207267	155207267	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:155207267C>A	ENST00000327247.5	-	8	1096	c.864G>T	c.(862-864)ctG>ctT	p.L288L	GBA_ENST00000427500.3_Silent_p.L239L|GBA_ENST00000428024.3_Silent_p.L201L|GBA_ENST00000536770.1_Silent_p.L175L|GBA_ENST00000368373.3_Silent_p.L288L	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	288					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.L288L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGGTGAAGCCCAGGCACTGGA	0.547000									Gaucher disease type I				34	23					1.60099e-16	1.96295e-16	0.074837	1	0
PCNX	22990	broad.mit.edu	37	14	71540497	71540497	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:71540497C>G	ENST00000304743.2	+	27	5534	c.5088C>G	c.(5086-5088)ctC>ctG	p.L1696L	PCNX_ENST00000238570.5_Silent_p.L1624L|PCNX_ENST00000439984.3_Silent_p.L1585L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1696						integral to membrane		p.L1696L(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)		GGAAAGTACTCACCACTTACT	0.363000													28	84					0	0	0.050027	0	0
MTMR11	10903	broad.mit.edu	37	1	149903256	149903256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:149903256C>T	ENST00000439741.2	-	13	1436	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MTMR11_ENST00000492824.1_Intron|MTMR11_ENST00000406732.3_Intron|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.E324K	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	396	Myotubularin phosphatase.						phosphatase activity	p.E324K(1)|p.E396K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTTCGGGCTTCGGGGGCTGAA	0.572000													27	55					0	0	0.108266	0	0
COL25A1	84570	broad.mit.edu	37	4	109740467	109740467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:109740467C>T	ENST00000399132.1	-	36	2394	c.1864G>A	c.(1864-1866)Ggg>Agg	p.G622R		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	622	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.G622R(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTTTTCCCCCTTAACGCCA	0.463000													3	26					0	0	0.009096	0	0
AC096579.13	0	broad.mit.edu	37	2	89159973	89159973	+	RNA	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:89159973A>C	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							GGCAAATCTTAAATGCCCTCA	0.323000													7	15					0	0	0.029380	0	0
H2AFV	94239	broad.mit.edu	37	7	44880564	44880564	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:44880564G>A	ENST00000222690.6	-	3	234	c.129C>T	c.(127-129)agC>agT	p.S43S	H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000446531.1_Silent_p.S43S|H2AFV_ENST00000350771.3_Silent_p.S17S|H2AFV_ENST00000381124.5_Silent_p.S43S|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000521529.1_Silent_p.S17S|H2AFV_ENST00000308153.4_Silent_p.S43S	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	43					nucleosome assembly	nucleosome|nucleus	DNA binding	p.S43S(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						CCCTTCCATGGCTTGTGGTGC	0.512000													5	58					0	0	0.014758	0	0
CSPP1	79848	broad.mit.edu	37	8	68049786	68049786	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:68049786G>T	ENST00000262210.5	+	15	1939	c.1908G>T	c.(1906-1908)tgG>tgT	p.W636C	CSPP1_ENST00000412460.1_Missense_Mutation_p.W342C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	671						centrosome|microtubule|spindle		p.W636C(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATAATCCCTGGGGAAAAGGTG	0.348000													11	21					9.70103e-10	1.13357e-09	0.069234	1	0
ACAD10	80724	broad.mit.edu	37	12	112174762	112174762	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:112174762C>T	ENST00000455480.2	+	13	1938	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	ACAD10_ENST00000392636.2_Silent_p.F158F|ACAD10_ENST00000313698.4_Silent_p.F556F|ACAD10_ENST00000549590.1_Silent_p.F556F|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	556							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.F556F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTTCCTTTTTCCGTGTGGCTG	0.527000													33	32					0	0	0.064281	0	0
PLCH1	23007	broad.mit.edu	37	3	155212182	155212182	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:155212182G>T	ENST00000460012.1	-	16	2286	c.1929C>A	c.(1927-1929)cgC>cgA	p.R643R	PLCH1_ENST00000494598.1_Silent_p.R661R|PLCH1_ENST00000414191.1_Silent_p.R643R|PLCH1_ENST00000340059.7_Silent_p.R661R|PLCH1_ENST00000447496.2_Silent_p.R661R|PLCH1_ENST00000334686.6_Silent_p.R643R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	661	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R661R(1)|p.R643R(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGAATCAATGCGGTAGGCAG	0.453000													5	80					0.000602214	0.000633673	0.014758	1	0
ITIH5	80760	broad.mit.edu	37	10	7608068	7608068	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:7608068G>T	ENST00000256861.6	-	13	2530	c.2452C>A	c.(2452-2454)Ccc>Acc	p.P818T	ITIH5_ENST00000446830.2_Missense_Mutation_p.P600T|ITIH5_ENST00000298441.6_Missense_Mutation_p.P604T|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	818					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P818>?(1)|p.P818T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGCTGGAAGGGCGCCGGCTTT	0.602000													31	66					2.08457e-15	2.54113e-15	0.045705	1	0
NOS2	4843	broad.mit.edu	37	17	26106004	26106004	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:26106004G>T	ENST00000313735.6	-	10	1316	c.1083C>A	c.(1081-1083)ggC>ggA	p.G361G		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	361					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.G361G(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGAACTCCAGGCCGCCCACCT	0.567000													30	40					1.39649e-27	1.77392e-27	0.050027	1	0
ZFP57	346171	broad.mit.edu	37	6	29640796	29640796	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:29640796G>T	ENST00000376883.1	-	6	1443	c.1032C>A	c.(1030-1032)acC>acA	p.T344T	ZFP57_ENST00000488757.1_Silent_p.T364T|ZFP57_ENST00000376881.3_Silent_p.T344T			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	280					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.T344T(1)|p.L345V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCTGACAGAGGGTTCCAGTGA	0.493000													124	88					1.41444e-48	1.82969e-48	0.048971	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_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													3	8					0.004672	0.00489172	0.004672	1	0
SCN2A	6326	broad.mit.edu	37	2	166229818	166229818	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:166229818G>A	ENST00000357398.3	+	21	4223	c.3933G>A	c.(3931-3933)ctG>ctA	p.L1311L	SCN2A_ENST00000375427.2_Silent_p.L1311L|SCN2A_ENST00000283256.6_Silent_p.L1311L|SCN2A_ENST00000375437.2_Silent_p.L1311L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1311					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1311L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAAGAGCTCTGAGGCCACTGA	0.433000													4	85					0	0	0.009096	0	0
COL22A1	169044	broad.mit.edu	37	8	139833571	139833571	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:139833571G>A	ENST00000303045.6	-	7	1499	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	COL22A1_ENST00000435777.1_Silent_p.F351F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	351	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.F351F(1)		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)			GAGAACCTCGGAAGACCACCC	0.582000										HNSCC(7;0.00092)			7	86					0	0	0.029380	0	0
SOGA3	387104	broad.mit.edu	37	6	127796469	127796469	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:127796469C>A	ENST00000556132.1	-	6	3566	c.2702G>T	c.(2701-2703)cGc>cTc	p.R901L	SOGA3_ENST00000525778.1_Missense_Mutation_p.R901L|SOGA3_ENST00000465909.2_Missense_Mutation_p.R901L|SOGA3_ENST00000368268.2_Missense_Mutation_p.R901L|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.R901L	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	901						integral to membrane		p.R901L(1)|p.R901H(1)									CTCGGCGCCGCGGTCGTCCGC	0.667000													4	68					3.59834e-05	3.90281e-05	0.021553	1	0
OR56A4	120793	broad.mit.edu	37	11	6023399	6023399	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6023399A>C	ENST00000330728.4	-	1	1025	c.980T>G	c.(979-981)gTc>gGc	p.V327G		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V327G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATGGGGACATCTGGAGG	0.517000													5	14					0	0	0.014758	0	0
AHNAK	79026	broad.mit.edu	37	11	62285078	62285078	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:62285078G>C	ENST00000378024.4	-	5	17085	c.16811C>G	c.(16810-16812)tCt>tGt	p.S5604C	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5604	Gly-rich.				nervous system development	nucleus	protein binding	p.S5604C(1)|p.S5604F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTGAGAGCAGAGGAGACTTG	0.537000													54	132					0	0	0.048971	0	0
BRDT	676	broad.mit.edu	37	1	92446894	92446894	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:92446894T>G	ENST00000370389.2	+	11	2525	c.1601T>G	c.(1600-1602)cTg>cGg	p.L534R	BRDT_ENST00000399546.2_Missense_Mutation_p.L607R|BRDT_ENST00000402388.1_Missense_Mutation_p.L607R|BRDT_ENST00000362005.3_Missense_Mutation_p.L607R|BRDT_ENST00000394530.3_Missense_Mutation_p.L561R	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.L607R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGCGGTTACTGGATGTTAAT	0.343000													9	42					0	0	0.058154	0	0
ZNF622	90441	broad.mit.edu	37	5	16465637	16465637	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:16465637G>T	ENST00000308683.2	-	1	264	c.138C>A	c.(136-138)ggC>ggA	p.G46G		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	46						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.G46G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCTCCTGGAAGCCCTCGGCGG	0.662000													5	169					5.9392e-07	6.69942e-07	0.021553	1	0
FAM160A2	84067	broad.mit.edu	37	11	6244846	6244846	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6244846G>A	ENST00000265978.4	-	3	1129	c.771C>T	c.(769-771)ttC>ttT	p.F257F	FAM160A2_ENST00000524416.1_Silent_p.F257F|FAM160A2_ENST00000449352.2_Silent_p.F257F	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	257					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.F257F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAACCGGGCAGAAGTAAGAGT	0.597000													18	86					0	0	0.043863	0	0
TNP2	7142	broad.mit.edu	37	16	11362858	11362858	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:11362858A>T	ENST00000312693.3	-	1	331	c.262T>A	c.(262-264)Tcc>Acc	p.S88T	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	88					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.S88T(1)|p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GAGTGGTGGGAGTTCATAGTC	0.557000													39	22					0	0	0.086207	0	0
FLG2	388698	broad.mit.edu	37	1	152327473	152327473	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152327473C>T	ENST00000388718.5	-	3	2861	c.2789G>A	c.(2788-2790)aGt>aAt	p.S930N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	930	Ser-rich.						calcium ion binding|structural molecule activity	p.S930N(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGACTGACTTGAGCCAGA	0.478000													33	473					0	0	0.069456	0	0
MTERFD2	130916	broad.mit.edu	37	2	242038846	242038846	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:242038846C>T	ENST00000391980.2	-	2	543	c.485G>A	c.(484-486)cGc>cAc	p.R162H	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.R162H|MTERFD2_ENST00000407095.3_Missense_Mutation_p.R162H	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	162								p.R162H(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTAACTGGAGCGCTTCCTCAT	0.468000													10	118					0	0	0.069234	0	0
NARF	26502	broad.mit.edu	37	17	80426772	80426772	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:80426772G>C	ENST00000309794.11	+	4	583	c.385G>C	c.(385-387)Ggg>Cgg	p.G129R	NARF_ENST00000390006.4_Splice_Site_p.G70R|NARF_ENST00000345415.7_Splice_Site_p.G81R|NARF_ENST00000457415.3_Splice_Site_p.G129R|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_Splice_Site_p.L13F	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding	p.G129R(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAAAAGTCTTGGTGAGTCATC	0.388000													5	78					0	0	0.021553	0	0
PSME4	23198	broad.mit.edu	37	2	54093286	54093286	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:54093286G>A	ENST00000404125.1	-	46	5527	c.5472C>T	c.(5470-5472)ttC>ttT	p.F1824F	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Silent_p.F968F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1824					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.F1824F(1)|p.F1710F(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTCATCAGTGAATTGCTGTT	0.398000													23	78					0	0	0.091800	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146649800	146649800	+	RNA	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:146649800G>C	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA																							ACAACTTGGAGAGTCGCATCT	0.667000													3	74					0	0	0.004672	0	0
COL6A5	256076	broad.mit.edu	37	3	130159571	130159571	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:130159571A>T	ENST00000265379.6	+	35	6883	c.6389A>T	c.(6388-6390)tAc>tTc	p.Y2130F	COL6A5_ENST00000432398.2_Missense_Mutation_p.Y2130F			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2130	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.Y169F(1)|p.Y2130F(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTAGCCAGCTACCCACTTGAT	0.423000													3	34					0	0	0.009096	0	0
DUSP10	11221	broad.mit.edu	37	1	221879668	221879668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:221879668C>A	ENST00000366899.3	-	3	1190	c.952G>T	c.(952-954)Gag>Tag	p.E318*	DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	318					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E318*(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCAGCGTTCTCGATGTCAGGG	0.632000													6	167					2.7689e-08	3.1914e-08	0.029380	1	0
NPAS3	64067	broad.mit.edu	37	14	34269591	34269591	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:34269591C>G	ENST00000346562.2	+	11	2056	c.1982C>G	c.(1981-1983)tCc>tGc	p.S661C	NPAS3_ENST00000357798.5_Missense_Mutation_p.S680C|NPAS3_ENST00000356141.4_Missense_Mutation_p.S693C|NPAS3_ENST00000551492.1_Missense_Mutation_p.S698C|NPAS3_ENST00000548645.1_Missense_Mutation_p.S663C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S661C(1)|p.S680C(1)|p.S693C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CACTTCCCGTCCCCGCAGGGC	0.721000													12	26					0	0	0.093190	0	0
SDHC	6391	broad.mit.edu	37	1	161293414	161293414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:161293414C>T	ENST00000367975.2	+	2	180	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	SDHC_ENST00000392169.2_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.R11C|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.R11C|SDHC_ENST00000513009.1_Missense_Mutation_p.R11C	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	11					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	p.R11C(2)		urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACACGTTGGTCGTCATTGCCT	0.363000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				4	66					0	0	0.009096	0	0
NXPE4	54827	broad.mit.edu	37	11	114441787	114441787	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:114441787A>G	ENST00000375478.3	-	6	1688	c.1508T>C	c.(1507-1509)tTc>tCc	p.F503S	NXPE4_ENST00000424261.2_Missense_Mutation_p.F219S	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.F503S(1)									GAGATCCTGGAAAATGTCCTT	0.363000													3	64					0	0	0.004672	0	0
SIGIRR	59307	broad.mit.edu	37	11	408113	408113	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:408113G>C	ENST00000431843.2	-	4	606	c.300C>G	c.(298-300)atC>atG	p.I100M	SIGIRR_ENST00000382520.2_Missense_Mutation_p.I100M|SIGIRR_ENST00000397632.3_Missense_Mutation_p.I100M|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000531205.1_Missense_Mutation_p.I100M|SIGIRR_ENST00000332725.3_Missense_Mutation_p.I100M	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	100	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	p.I100M(2)		cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGATGTTCTGGATGGAGCAGG	0.587000													24	42					0	0	0.099896	0	0
PHIP	55023	broad.mit.edu	37	6	79650578	79650578	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:79650578C>G	ENST00000275034.4	-	40	5465	c.5298G>C	c.(5296-5298)atG>atC	p.M1766I	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1766					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.M1766I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCTAGTTCTCATGTGGGGTT	0.408000													96	661					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179596956	179596956	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179596956A>C	ENST00000589042.1	-	57	16964	c.16740T>G	c.(16738-16740)aaT>aaG	p.N5580K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4336K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5263K|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5263	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N4336K(1)		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)			TTTCTCTATCATTTGCAAACC	0.423000													62	85					0	0	0.048971	0	0
ZNF354C	30832	broad.mit.edu	37	5	178503483	178503483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:178503483G>A	ENST00000315475.6	+	3	371	c.65G>A	c.(64-66)aGc>aAc	p.S22N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S22N(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTGTTCTTCAGCCAGGACGAG	0.542000													13	42					0	0	0.105934	0	0
IER5	51278	broad.mit.edu	37	1	181058781	181058781	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:181058781A>C	ENST00000367577.4	+	1	1144	c.743A>C	c.(742-744)cAg>cCg	p.Q248P		NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	248								p.Q248P(1)		lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						AACTTAGAGCAGCCGCCGAGT	0.697000													6	34					0	0	0.021553	0	0
MED12L	116931	broad.mit.edu	37	3	151102914	151102914	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:151102914A>G	ENST00000474524.1	+	34	4956	c.4918A>G	c.(4918-4920)Atg>Gtg	p.M1640V	MED12L_ENST00000273432.4_Missense_Mutation_p.M1500V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1640					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.M1640V(1)		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)			TTGTGAACCTATGGGTTCCTT	0.348000													109	77					0	0	0.048971	0	0
RPL24	6152	broad.mit.edu	37	3	101400024	101400024	+	Nonstop_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:101400024C>A	ENST00000495401.1	-	5	393	c.365G>T	c.(364-366)tGa>tTa	p.*122L	RPL24_ENST00000394077.3_Silent_p.V143V			P83731	RL24_HUMAN	ribosomal protein L24	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	p.V143V(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						TCACAGGCTTCACAATCTTTT	0.383000													38	106					8.20599e-20	1.03308e-19	0.042209	1	0
HCN1	348980	broad.mit.edu	37	5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	rs35229491		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:45303809G>A	ENST00000303230.4	-	6	1567	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	504						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R504*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTCCTTCTCGTATGATATAA	0.403000													50	152					0	0	0.048971	0	0
LRTM2	654429	broad.mit.edu	37	12	1943830	1943830	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:1943830G>A	ENST00000543818.1	+	5	1898	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Silent_p.L352L|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Silent_p.L352L|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	352						integral to membrane		p.L352L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCCAGCCCCTGATGGGGGACC	0.652000													8	82					0	0	0.069234	0	0
KCNB1	3745	broad.mit.edu	37	20	48098449	48098449	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:48098449A>G	ENST00000371741.4	-	1	734		c.e1+1			NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1						energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.?(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCCAGACTCACCTTGGCAGC	0.567000													4	73					0	0	0.014758	0	0
DCHS1	8642	broad.mit.edu	37	11	6649910	6649910	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6649910C>T	ENST00000299441.3	-	13	5724	c.5313G>A	c.(5311-5313)atG>atA	p.M1771I		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1771	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M1771I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCCGAAGCATGGTAAGGG	0.577000													13	20					0	0	0.024245	0	0
NTRK1	4914	broad.mit.edu	37	1	156845892	156845892	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:156845892C>T	ENST00000368196.3	+	12	1624	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	NTRK1_ENST00000392302.2_Missense_Mutation_p.R472W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R505W|NTRK1_ENST00000524377.1_Missense_Mutation_p.R508W	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	508					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R472W(1)|p.R508W(1)|p.R471>?(1)|p.R507>?(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CATCAAGCGCCGGGACATCGT	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			11	114					0	0	0.080935	0	0
TFAP2C	7022	broad.mit.edu	37	20	55212966	55212966	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:55212966A>T	ENST00000201031.2	+	7	1493	c.1250A>T	c.(1249-1251)aAa>aTa	p.K417I	TFAP2C_ENST00000544508.1_Missense_Mutation_p.K248I	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	417	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.K417I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AACTACATCAAAGAAGCCCTG	0.488000													5	71					0	0	0.014758	0	0
KRT79	338785	broad.mit.edu	37	12	53228038	53228038	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:53228038A>G	ENST00000330553.5	-	1	41	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	3	Head.					keratin filament	structural molecule activity	p.S3P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGACGGAGGACCTCATAGCT	0.612000													6	28					0	0	0.047766	0	0
OR8B12	219858	broad.mit.edu	37	11	124413346	124413346	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:124413346C>G	ENST00000306842.2	-	1	229	c.205G>C	c.(205-207)Gat>Cat	p.D69H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D69H(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		AAACAGAAATCTATTAAAGAG	0.453000													20	15					0	0	0.049695	0	0
XIRP2	129446	broad.mit.edu	37	2	168101392	168101392	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:168101392A>G	ENST00000409195.1	+	9	3579	c.3490A>G	c.(3490-3492)Aca>Gca	p.T1164A	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1164A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T942A|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	989					actin cytoskeleton organization	cell junction	actin binding	p.T1164A(1)		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						GGATGTTCGTACAGCATGTTT	0.398000													29	40					0	0	0.041601	0	0
MALAT1	378938	broad.mit.edu	37	11	65265440	65265440	+	RNA	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:65265440C>G	ENST00000534336.1	+	0	208					NR_002819.2																						GCTGGCCATTCCAGGTGGTGG	0.522000													48	85					0	0	0.048971	0	0
KLHL17	339451	broad.mit.edu	37	1	900368	900368	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:900368G>T	ENST00000338591.3	+	12	1833	c.1726G>T	c.(1726-1728)Gac>Tac	p.D576Y		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	576	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	p.D576Y(1)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGCCATGGACGGATGGTT	0.647000													14	10					0.000151284	0.00016242	0.105934	1	0
GAS2L2	246176	broad.mit.edu	37	17	34071981	34071981	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:34071981C>T	ENST00000254466.6	-	6	2562	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	GAS2L2_ENST00000587565.1_Silent_p.E829E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	845					cell cycle arrest	cytoplasm|cytoskeleton		p.E845E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGctctttctcctcctttc	0.602000													4	20					0	0	0.014758	0	0
NOSIP	51070	broad.mit.edu	37	19	50060221	50060221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:50060221G>A	ENST00000391853.3	-	7	599	c.448C>T	c.(448-450)Cct>Tct	p.P150S	NOSIP_ENST00000596358.1_Missense_Mutation_p.P150S|NOSIP_ENST00000339093.3_Missense_Mutation_p.P153S	NM_015953.4	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	150					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	p.P150S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTACTTGGAGGACCCACACTG	0.677000													5	9					0	0	0.014758	0	0
TTLL7	79739	broad.mit.edu	37	1	84387005	84387005	+	Silent	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:84387005T>G	ENST00000260505.8	-	11	1592	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	405					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.S405S(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GCCTTTTAATTGAATTTTGAC	0.413000													17	63					0	0	0.033300	0	0
OR5K2	402135	broad.mit.edu	37	3	98217282	98217282	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:98217282G>T	ENST00000427338.1	+	1	835	c.758G>T	c.(757-759)gGa>gTa	p.G253V	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTATTCTATGGATCTATTTTT	0.328000													10	50					0.00829132	0.00863849	0.069234	1	0
OXR1	55074	broad.mit.edu	37	8	107718630	107718630	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:107718630G>T	ENST00000445937.1	+	9	1142	c.881G>T	c.(880-882)gGa>gTa	p.G294V	OXR1_ENST00000531443.1_Missense_Mutation_p.G294V|OXR1_ENST00000312046.6_Missense_Mutation_p.G287V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Missense_Mutation_p.G295V|OXR1_ENST00000517566.2_Missense_Mutation_p.G294V|OXR1_ENST00000497705.1_Missense_Mutation_p.G227V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	295					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.G206V(1)|p.G206>?(1)|p.G295V(1)|p.G295>?(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAGCTATCAGGAAGGGACTTC	0.353000													9	62					2.74318e-10	3.25032e-10	0.058154	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177393	89177393	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:89177393T>A	ENST00000561129.2	+	1	439	c.309T>A	c.(307-309)aaT>aaA	p.N103K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.N103K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N103K(1)		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						GGTTTATCAATGCTCGCAGAC	0.473000													23	88					0	0	0.069288	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517676	158517676	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:158517676G>C	ENST00000302617.3	-	1	219	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L74V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CACATCTCCAGGAAGGAGAGG	0.463000													7	88					0	0	0.029380	0	0
FLG	2312	broad.mit.edu	37	1	152285219	152285219	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152285219G>C	ENST00000368799.1	-	3	2178	c.2143C>G	c.(2143-2145)Cag>Gag	p.Q715E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	715	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q715E(2)		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)			TCTGCTGACTGGAGCTGGTGG	0.567000									Ichthyosis				539	367					0	0	0.048971	0	0
RIPK4	54101	broad.mit.edu	37	21	43161781	43161781	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:43161781C>T	ENST00000352483.2	-	9	1780	c.1716G>A	c.(1714-1716)ttG>ttA	p.L572L	RIPK4_ENST00000542057.1_Silent_p.L461L|RIPK4_ENST00000332512.3_Silent_p.L524L|RIPK4_ENST00000544709.1_Silent_p.L461L			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	524						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.L524L(1)|p.L572L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTTCTTCTCCAACAGCAGCC	0.622000													23	80					0	0	0.076483	0	0
OR10H4	126541	broad.mit.edu	37	19	16060285	16060285	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:16060285G>A	ENST00000322107.1	+	1	468	c.468G>A	c.(466-468)atG>atA	p.M156I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M156I(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTCAGTCATGGGGATGATGG	0.522000													21	113					0	0	0.055883	0	0
TCP11L1	55346	broad.mit.edu	37	11	33106597	33106597	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:33106597C>T	ENST00000324357.9	+	7	1068	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	CSTF3_ENST00000323959.4_3'UTR			Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	0								p.I352I(1)		kidney(1)|liver(2)|lung(2)|skin(1)	6						CAAAAGGAATCCTGGACAGGA	0.463000													3	35					0	0	0.004672	0	0
MEIS1	4211	broad.mit.edu	37	2	66775088	66775088	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:66775088C>T	ENST00000488550.1	+	9	1201	c.902C>T	c.(901-903)tCt>tTt	p.S301F	MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000272369.9_Missense_Mutation_p.S301F|MEIS1_ENST00000398506.2_Missense_Mutation_p.S299F|MEIS1_ENST00000407092.2_Missense_Mutation_p.S301F|MEIS1_ENST00000495021.2_Missense_Mutation_p.S236F|MEIS1_ENST00000560281.2_Missense_Mutation_p.S301F|MEIS1_ENST00000444274.2_Silent_p.F220F			O00470	MEIS1_HUMAN	Meis homeobox 1	301							sequence-specific DNA binding transcription factor activity	p.S301F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CCTTACCCTTCTGAAGAACAG	0.383000													20	26					0	0	0.069288	0	0
SCAMP5	192683	broad.mit.edu	37	15	75305073	75305073	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:75305073C>T	ENST00000361900.6	+	4	270	c.63C>T	c.(61-63)ttC>ttT	p.F21F	SCAMP5_ENST00000425597.3_Silent_p.F21F|SCAMP5_ENST00000545456.1_Silent_p.L3L|SCAMP5_ENST00000562212.1_Silent_p.F21F|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	21					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	p.F21F(2)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AGCCATGTTTCTACCAAGACT	0.527000													18	15					0	0	0.038395	0	0
DENND4A	10260	broad.mit.edu	37	15	66048786	66048786	+	Translation_Start_Site	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:66048786C>T	ENST00000443035.3	-	3	218	c.3G>A	c.(1-3)atG>atA	p.M1I	DENND4A_ENST00000431932.2_Start_Codon_SNP_p.M1I	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.M1I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGTCTTCAATCATCTTCCATT	0.358000													26	15					0	0	0.030593	0	0
PYGO1	26108	broad.mit.edu	37	15	55839197	55839197	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:55839197T>C	ENST00000302000.6	-	3	378	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	PYGO1_ENST00000563719.1_Missense_Mutation_p.Y95C	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	95	Pro-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding	p.Y95C(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AAAGCCAGGATAACCAGGGCC	0.448000													3	98					0	0	0.009096	0	0
COL5A2	1290	broad.mit.edu	37	2	190044277	190044277	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:190044277T>A	ENST00000374866.3	-	1	328	c.54A>T	c.(52-54)ttA>ttT	p.L18F		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	18					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.L18F(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAAATTGCCCTAATAAAACAA	0.413000													16	21					0	0	0.043863	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887182	62887182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:62887182C>A	ENST00000281156.4	-	2	405	c.127G>T	c.(127-129)Gaa>Taa	p.E43*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.E43*(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCTTCGTCTTCCTTTTTTCCA	0.343000													7	8					0.000157383	0.00016854	0.038147	1	0
NAA35	60560	broad.mit.edu	37	9	88635862	88635862	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:88635862G>T	ENST00000361671.5	+	22	2229	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	699					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.G699V(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTATTGGCAGGAGGACACAAA	0.313000													3	27					2.56e-06	2.84968e-06	0.009096	1	0
ZNF563	147837	broad.mit.edu	37	19	12430206	12430206	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:12430206T>C	ENST00000293725.5	-	4	838	c.633A>G	c.(631-633)ttA>ttG	p.L211L	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L211L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCATACGTAATAAACTGGGCC	0.393000													17	142					0	0	0.028581	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696115	99696115	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:99696115C>G	ENST00000370597.3	-	3	588	c.233G>C	c.(232-234)gGa>gCa	p.G78A	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G78A|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G78A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	78						proteinaceous extracellular matrix	calcium ion binding	p.G78A(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGGTTGGGTCCATTGTACCT	0.657000													6	19					0	0	0.029380	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030758	10030758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:10030758C>A	ENST00000378380.3	+	6	1870	c.1541C>A	c.(1540-1542)tCa>tAa	p.S514*	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.S514*|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.S514*(1)									GCCTTTGAATCAGGAATACCT	0.378000													8	46					1.12685e-05	1.2413e-05	0.047766	1	0
FBXW11	23291	broad.mit.edu	37	5	171318553	171318553	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:171318553C>T	ENST00000296933.6	-	6	1038	c.668G>A	c.(667-669)cGc>cAc	p.R223H	FBXW11_ENST00000425623.2_Missense_Mutation_p.R204H|FBXW11_ENST00000393802.2_Missense_Mutation_p.R202H|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Missense_Mutation_p.R236H	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	236					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R223H(1)|p.R236H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTTTCAGAGCGGCACTGAAT	0.378000													5	44					0	0	0.014758	0	0
ZNF555	148254	broad.mit.edu	37	19	2851495	2851495	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:2851495T>A	ENST00000334241.4	+	3	298	c.160T>A	c.(160-162)Tca>Aca	p.S54T	ZNF555_ENST00000591539.1_Missense_Mutation_p.S54T|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S54T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GGCCAGTGGGTCAGTTTCTCA	0.388000													3	45					0	0	0.009096	0	0
NIN	51199	broad.mit.edu	37	14	51204963	51204963	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:51204963T>A	ENST00000245441.5	-	27	5860	c.5670A>T	c.(5668-5670)aaA>aaT	p.K1890N	NIN_ENST00000530997.2_Missense_Mutation_p.K1890N|NIN_ENST00000382041.3_Missense_Mutation_p.K1890N|NIN_ENST00000382043.4_Missense_Mutation_p.K1177N|NIN_ENST00000389868.3_Missense_Mutation_p.K1177N|NIN_ENST00000453196.1_Missense_Mutation_p.K1890N|NIN_ENST00000324330.9_Missense_Mutation_p.K1890N	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1890					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.K1890N(2)|p.K1896N(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGTTTAGATGTTTTTGGTGCT	0.403000			T	PDGFRB	MPD								37	84					0	0	0.069456	0	0
ORC3	23595	broad.mit.edu	37	6	88331710	88331710	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:88331710G>C	ENST00000392844.3	+	11	1212	c.1164G>C	c.(1162-1164)ttG>ttC	p.L388F	ORC3_ENST00000257789.4_Missense_Mutation_p.L388F|ORC3_ENST00000417380.2_Missense_Mutation_p.L335F|ORC3_ENST00000546266.1_Missense_Mutation_p.L245F	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	388					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.L388F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTGCGCTCTTGACCAATGAGA	0.313000													10	57					0	0	0.080935	0	0
RORB	6096	broad.mit.edu	37	9	77257389	77257389	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:77257389A>G	ENST00000376896.3	+	4	907	c.295A>G	c.(295-297)Aag>Gag	p.K99E	RORB_ENST00000396204.2_Missense_Mutation_p.K110E	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.K99E(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGAGGTgcagaagcaccagca	0.557000													7	37					0	0	0.038147	0	0
TTC40	54777	broad.mit.edu	37	10	134647019	134647019	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:134647019C>A	ENST00000368586.5	-	50	7060	c.6960G>T	c.(6958-6960)caG>caT	p.Q2320H	TTC40_ENST00000263170.5_Missense_Mutation_p.Q481H	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	481								p.Q481H(1)|p.Q2320H(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAACCTCAGGCTGGACTGTGC	0.587000													15	29					9.04072e-19	1.13478e-18	0.059317	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101434473	101434473	+	RNA	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:101434473G>A	ENST00000554693.2	+	0	135				SNORD114-11_ENST00000363738.1_RNA																							GACTGGTGGTGTGTGAGTCAT	0.423000													4	12					0	0	0.009096	0	0
MIOX	55586	broad.mit.edu	37	22	50927504	50927504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:50927504C>T	ENST00000395733.3	+	6	590	c.476C>T	c.(475-477)gCc>gTc	p.A159V	MIOX_ENST00000216075.6_Silent_p.C148C|MIOX_ENST00000395732.3_Silent_p.C148C			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	0					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	p.C148C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTCGGATGCCGTCCGCAGG	0.667000													3	7					0	0	0.009096	0	0
HECW2	57520	broad.mit.edu	37	2	197092943	197092943	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:197092943A>G	ENST00000260983.3	-	22	3982	c.3800T>C	c.(3799-3801)tTc>tCc	p.F1267S	HECW2_ENST00000409111.1_Missense_Mutation_p.F911S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.F1267S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATACCAGGAAGAAAAACTC	0.348000													12	46					0	0	0.020292	0	0
MAT1A	4143	broad.mit.edu	37	10	82043718	82043718	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:82043718C>T	ENST00000372213.3	-	3	506	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	82					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.V82V(1)		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)	TGTCCCTCACCACCCGCTGGT	0.592000													7	29					0	0	0.029380	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127517	3127517	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:3127517C>G	ENST00000380266.3	-	2	2521	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	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	734	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.E734Q(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TAGGATAACTCTACCACACGG	0.502000													48	55					0	0	0.048971	0	0
TMC7	79905	broad.mit.edu	37	16	19020681	19020681	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:19020681C>A	ENST00000304381.5	+	2	385	c.255C>A	c.(253-255)ctC>ctA	p.L85L	TMC7_ENST00000421369.3_5'UTR|TMC7_ENST00000569532.1_Silent_p.L85L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	85						integral to membrane		p.L85L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGAAAACCTCAGCAGCCATT	0.493000													46	20					6.68952e-21	8.44677e-21	0.045515	1	0
TNXB	7148	broad.mit.edu	37	6	32018062	32018062	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:32018062G>T	ENST00000375244.3	-	27	9353	c.9152C>A	c.(9151-9153)cCt>cAt	p.P3051H	TNXB_ENST00000375247.2_Missense_Mutation_p.P3049H			P22105	TENX_HUMAN	tenascin XB	3096	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.P3051H(1)|p.P3116H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCATGGTAGGCACTGCTTG	0.612000													13	78					0.000219431	0.000234393	0.020292	1	0
CD300A	11314	broad.mit.edu	37	17	72480186	72480186	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:72480186C>T	ENST00000360141.3	+	7	1109	c.821C>T	c.(820-822)tCt>tTt	p.S274F	CD300A_ENST00000392625.3_Missense_Mutation_p.S125F|CD300A_ENST00000361933.3_Missense_Mutation_p.S78F|CD300A_ENST00000577511.1_Missense_Mutation_p.S144F|CD300A_ENST00000310828.5_Missense_Mutation_p.S161F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	274					cell adhesion	integral to membrane|plasma membrane	receptor activity	p.S274F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GTGTTTGATTCTAACACCAAC	0.507000													26	60					0	0	0.099896	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348658	49348658	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:49348658C>T	ENST00000263265.6	-	16	2267	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R546H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	571						cytoplasm|membrane	1-phosphatidylinositol binding	p.R571H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGGAGGTGGCGACCCTCAGG	0.582000													55	14					0	0	0.048971	0	0
ZIM2	23619	broad.mit.edu	37	19	57286539	57286539	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:57286539G>C	ENST00000391708.3	-	12	1643	c.1101C>G	c.(1099-1101)ctC>ctG	p.L367L	ZIM2_ENST00000599935.1_Silent_p.L367L|ZIM2_ENST00000221722.5_Silent_p.L367L|ZIM2_ENST00000593711.1_Silent_p.L367L|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Silent_p.L367L|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.L367L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGTGTGGCATGAGATAGAAGG	0.478000													6	96					0	0	0.038147	0	0
ARPP21	10777	broad.mit.edu	37	3	35770879	35770879	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:35770879G>T	ENST00000187397.4	+	15	1766	c.1310G>T	c.(1309-1311)gGt>gTt	p.G437V	ARPP21_ENST00000444190.1_Missense_Mutation_p.G383V|ARPP21_ENST00000337271.5_Missense_Mutation_p.G383V|ARPP21_ENST00000417925.1_Missense_Mutation_p.G403V|ARPP21_ENST00000458225.1_Missense_Mutation_p.G403V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	437						cytoplasm	nucleic acid binding	p.G437V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTAGTCTCAGGTGTGGCAGCT	0.587000													7	49					5.18039e-06	5.7364e-06	0.038147	1	0
SF3B3	23450	broad.mit.edu	37	16	70563070	70563070	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:70563070C>T	ENST00000302516.5	+	3	576	c.365C>T	c.(364-366)gCt>gTt	p.A122V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	122					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.A122V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGTTCTTAGCTGTGGATCCC	0.438000													3	51					0	0	0.009096	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	4					0.00909568	0.00940702	0.009096	1	0
RAD54B	25788	broad.mit.edu	37	8	95392549	95392549	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:95392549C>T	ENST00000336148.5	-	12	2195	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.D691N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTTTGTCCATCAAGTCTTGTA	0.363000								Direct reversal of damage;Homologous recombination					23	39					0	0	0.099896	0	0
THUMPD1	55623	broad.mit.edu	37	16	20748467	20748467	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:20748467T>C	ENST00000381337.2	-	4	1141	c.797A>G	c.(796-798)gAg>gGg	p.E266G	THUMPD1_ENST00000396083.2_Missense_Mutation_p.E266G|THUMPD1_ENST00000431224.2_Missense_Mutation_p.E352G	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	266								p.E266G(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTCACCACCTCCTGGAGATT	0.428000													23	86					0	0	0.091800	0	0
PTPRT	11122	broad.mit.edu	37	20	41400092	41400092	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:41400092C>T	ENST00000373198.4	-	5	902	c.667G>A	c.(667-669)Gac>Aac	p.D223N	PTPRT_ENST00000356100.2_Missense_Mutation_p.D223N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D223N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D223N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D223N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D223N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAAAGCTTGTCATGCTGAGAC	0.498000													4	163					0	0	0.009096	0	0
TIE1	7075	broad.mit.edu	37	1	43774766	43774766	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:43774766C>T	ENST00000372476.3	+	8	1231	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	TIE1_ENST00000433781.2_Silent_p.S29S|TIE1_ENST00000441333.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	384	Ig-like C2-type 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S384S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCGGGGCAGCATAGAGCTAC	0.612000													11	21					0	0	0.020292	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542804	154542804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154542804C>G	ENST00000368476.3	+	4	590	c.326C>G	c.(325-327)tCc>tGc	p.S109C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	109					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.S109C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CGGCTCCCTTCCAAACACATC	0.532000													3	23					0	0	0.004672	0	0
GPR149	344758	broad.mit.edu	37	3	154055940	154055940	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:154055940T>C	ENST00000389740.2	-	4	1843	c.1744A>G	c.(1744-1746)Ata>Gta	p.I582V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	582						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I582V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTGGAGTTATTTTTTGCCCT	0.453000													6	272					0	0	0.029380	0	0
NR5A2	2494	broad.mit.edu	37	1	200017817	200017817	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:200017817G>A	ENST00000367362.3	+	5	1227	c.981G>A	c.(979-981)caG>caA	p.Q327Q	NR5A2_ENST00000544748.1_Silent_p.Q255Q|NR5A2_ENST00000236914.3_Silent_p.Q281Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	327					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q327Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTATTTGCAGCAAGAGCAGG	0.493000													15	83					0	0	0.024245	0	0
EPHB2	2048	broad.mit.edu	37	1	23236885	23236885	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:23236885C>G	ENST00000400191.3	+	14	2531	c.2513C>G	c.(2512-2514)gCc>gGc	p.A838G	EPHB2_ENST00000374632.3_Missense_Mutation_p.A839G|EPHB2_ENST00000374627.1_Missense_Mutation_p.A833G|EPHB2_ENST00000374630.3_Missense_Mutation_p.A838G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	838	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.A838G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTAATCAATGCCATTGAGCAG	0.617000													4	57					0	0	0.009096	0	0
TOR3A	64222	broad.mit.edu	37	1	179051393	179051393	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:179051393G>A	ENST00000367627.3	+	1	882	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	TOR3A_ENST00000352445.6_Missense_Mutation_p.G44S	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	44					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	p.G44S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGCCTGGCCGGGCTTCCAGCG	0.726000													4	7					0	0	0.014758	0	0
KMT2A	4297	broad.mit.edu	37	11	118374909	118374909	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:118374909G>C	ENST00000534358.1	+	27	8325	c.8302G>C	c.(8302-8304)Gaa>Caa	p.E2768Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.E2727Q|KMT2A_ENST00000389506.5_Missense_Mutation_p.E2765Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.E2768Q(1)|p.E2765Q(1)									TGGGGAGAAAGAACATGTCAC	0.403000													5	64					0	0	0.021553	0	0
IQCD	115811	broad.mit.edu	37	12	113633634	113633634	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:113633634T>A	ENST00000416617.2	-	5	1286	c.1096A>T	c.(1096-1098)Agg>Tgg	p.R366W	IQCD_ENST00000299732.2_Missense_Mutation_p.R264W			Q96DY2	IQCD_HUMAN	IQ motif containing D	366								p.R264W(1)		endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCCTCCGCCTGAGCTCCTCC	0.597000													4	93					0	0	0.009096	0	0
GCN1L1	10985	broad.mit.edu	37	12	120611536	120611536	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120611536G>C	ENST00000300648.6	-	14	1299	c.1287C>G	c.(1285-1287)ttC>ttG	p.F429L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	429					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.F429L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGCTTTTTTGAACCATTCAG	0.517000													4	39					0	0	0.014758	0	0
DSCAM	1826	broad.mit.edu	37	21	42080497	42080497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:42080497G>A	ENST00000400454.1	-	2	721	c.244C>T	c.(244-246)Caa>Taa	p.Q82*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	82	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.Q82*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGAAAATTTGGAGAGTGCCG	0.502000													14	144					0	0	0.028581	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752423	41752423	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41752423C>T	ENST00000352645.4	+	21	2717	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ZC3H7B_ENST00000351589.4_Silent_p.I820I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	836					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.I820I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGACCCCCATCAGTTCTCGGG	0.617000													22	139					0	0	0.069288	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969237	140969237	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:140969237G>T	ENST00000298296.1	+	4	564	c.564G>T	c.(562-564)gtG>gtT	p.V188V	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	188	MAGE 1.							p.V188V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAAGGTGGACAAGTTGG	0.453000													43	26					1.32136e-16	1.62481e-16	0.104719	1	0
LMOD2	442721	broad.mit.edu	37	7	123296034	123296034	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:123296034A>G	ENST00000458573.2	+	1	174	c.17A>G	c.(16-18)tAc>tGc	p.Y6C	LMOD2_ENST00000456238.2_Missense_Mutation_p.Y6C	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	6	Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding	p.Y6C(1)									ACCTTTGGCTACCGAAGAGGA	0.557000													3	6					0	0	0.009096	0	0
PAQR4	124222	broad.mit.edu	37	16	3019837	3019837	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:3019837G>C	ENST00000318782.8	+	1	592	c.162G>C	c.(160-162)acG>acC	p.T54T	PAQR4_ENST00000572687.1_Silent_p.T54T|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000576565.1_Intron|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.T54T	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	54				T -> A (in Ref. 2; BAC03821).		integral to membrane	receptor activity	p.T54T(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACATCTACACGCACGGTGAGC	0.697000													14	14					0	0	0.020292	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485742	169485742	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:169485742C>G	ENST00000330368.2	-	2	971	c.597G>C	c.(595-597)ttG>ttC	p.L199F		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	199						cytoplasm|cytoskeleton		p.L199F(1)									AAGCACTGAGCAACATGATAC	0.468000													7	118					0	0	0.058154	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25891685	25891685	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:25891685G>A	ENST00000374338.4	+	8	888	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	257	AP-2 complex binding.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	p.E257K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCTGGATGAAGCGTTTTC	0.587000													56	55					0	0	0.048971	0	0
NLRP4	147945	broad.mit.edu	37	19	56369479	56369479	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:56369479G>C	ENST00000301295.6	+	3	1142	c.720G>C	c.(718-720)ttG>ttC	p.L240F	NLRP4_ENST00000587891.1_Missense_Mutation_p.L165F|NLRP4_ENST00000346986.5_Missense_Mutation_p.L240F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	240	NACHT.						ATP binding	p.L240F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGGCGGCTTGAACGAACCCG	0.567000													26	61					0	0	0.108266	0	0
COL4A6	1288	broad.mit.edu	37	X	107413848	107413848	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:107413848C>T	ENST00000394872.2	-	35	3718	c.3487G>A	c.(3487-3489)Gga>Aga	p.G1163R	COL4A6_ENST00000538570.1_Missense_Mutation_p.G1162R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1162R|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1162R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1163R			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1163	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1162R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTGGGTCCTATTAATCCG	0.498000									Alport syndrome with Diffuse Leiomyomatosis				36	56					0	0	0.111260	0	0
ZNF10	7556	broad.mit.edu	37	12	133732756	133732756	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:133732756C>T	ENST00000248211.6	+	5	1146	c.924C>T	c.(922-924)ctC>ctT	p.L308L	ZNF10_ENST00000426665.2_Silent_p.L308L|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Silent_p.L174L|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L308L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTTCTCACCTCATTGGACATC	0.428000													38	60					0	0	0.074837	0	0
TG	7038	broad.mit.edu	37	8	133941430	133941430	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:133941430C>T	ENST00000220616.4	+	23	4849	c.4809C>T	c.(4807-4809)tgC>tgT	p.C1603C	TG_ENST00000542445.1_Silent_p.C37C|TG_ENST00000377869.1_Silent_p.C1546C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1603					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.C1603C(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGATGCAGTGCTTGACAGGTG	0.468000													3	87					0	0	0.004672	0	0
RHCG	51458	broad.mit.edu	37	15	90020842	90020842	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:90020842T>A	ENST00000268122.4	-	7	1086	c.1018A>T	c.(1018-1020)Att>Ttt	p.I340F	RHCG_ENST00000544600.1_Missense_Mutation_p.I340F	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	340					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.I340F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGATTGTTAATGCCACATGTG	0.592000													21	12					0	0	0.062417	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748566	64748566	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:64748566T>G	ENST00000536360.1	-	5	1624	c.811A>C	c.(811-813)Att>Ctt	p.I271L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	271	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.I271L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TAATGTTCAATGTCTTTGCGG	0.368000													33	28					0	0	0.080422	0	0
CD5L	922	broad.mit.edu	37	1	157805906	157805906	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:157805906C>T	ENST00000368174.4	-	3	191	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.R32H(3)|p.R32P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTTCACAGCGGTGGAGGCC	0.622000													9	107					0	0	0.047766	0	0
FSHR	2492	broad.mit.edu	37	2	49190073	49190073	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:49190073A>G	ENST00000406846.2	-	10	2006	c.1887T>C	c.(1885-1887)ttT>ttC	p.F629F	FSHR_ENST00000541117.1_Silent_p.F365F|FSHR_ENST00000304421.4_Silent_p.F603F|FSHR_ENST00000346173.3_Silent_p.F567F	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	629					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.F629F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGTTTTTGGTAAAGATGGCAT	0.468000									Gonadal Dysgenesis, 46 XX				5	37					0	0	0.014758	0	0
CCDC19	25790	broad.mit.edu	37	1	159854250	159854250	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159854250T>A	ENST00000426543.2	-	7	1073	c.618A>T	c.(616-618)gaA>gaT	p.E206D	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.E291D			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	291						mitochondrion|soluble fraction		p.E291D(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTGGAGCTGTTCCATATATT	0.522000													23	285					0	0	0.091800	0	0
UBR4	23352	broad.mit.edu	37	1	19491386	19491386	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:19491386G>C	ENST00000375267.2	-	32	4421	c.4418C>G	c.(4417-4419)aCa>aGa	p.T1473R	UBR4_ENST00000375217.2_Missense_Mutation_p.T1473R|UBR4_ENST00000375254.3_Missense_Mutation_p.T1473R|UBR4_ENST00000375226.2_Missense_Mutation_p.T1473R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1473					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.T1473R(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGGCGATGTAGTCATGCG	0.552000													4	73					0	0	0.009096	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753225	41753225	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41753225G>A	ENST00000352645.4	+	23	2983	c.2726G>A	c.(2725-2727)tGc>tAc	p.C909Y	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C909Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	925					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.C909Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGTGCCGCTGCGCCCATGGA	0.662000													6	38					0	0	0.021553	0	0
C16orf46	123775	broad.mit.edu	37	16	81095726	81095726	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:81095726C>A	ENST00000378611.4	-	3	343	c.228G>T	c.(226-228)agG>agT	p.R76S	C16orf46_ENST00000299578.5_Missense_Mutation_p.R76S|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	76								p.R76S(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CTGGAGAAGTCCTTCCCCACC	0.557000													11	106					1.5842e-08	1.83092e-08	0.105934	1	0
GNE	10020	broad.mit.edu	37	9	36276944	36276944	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:36276944C>T	ENST00000543356.2	-	1	95	c.96G>A	c.(94-96)tcG>tcA	p.S32S	GNE_ENST00000396594.3_5'UTR	NM_001190388.1	NP_001177317.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	0					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	p.S32S(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			GTTTCCATCCCGAAGCACGAG	0.433000													46	68					0	0	0.048971	0	0
HSPB2	3316	broad.mit.edu	37	11	111784284	111784284	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:111784284G>T	ENST00000304298.3	+	2	802	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.G72C|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533475.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	72					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	p.G72C(1)		large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-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;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCTCAGTGAGGGCAAGTTCCA	0.637000													15	76					3.27435e-08	3.75353e-08	0.020292	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333715	47333715	+	RNA	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:47333715G>C	ENST00000505841.1	-	0	973					NR_002788.2													p.S324C(1)									AAAGATCCAGGAGATAGCAGT	0.443000													26	28					0	0	0.091800	0	0
GSE1	23199	broad.mit.edu	37	16	85691124	85691124	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:85691124C>T	ENST00000253458.7	+	8	1730	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	GSE1_ENST00000405402.2_Silent_p.F414F|GSE1_ENST00000393243.1_Silent_p.F445F	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.F518F(1)									TGTCCGAGTTCCGGCAGCAGG	0.697000													9	12					0	0	0.058154	0	0
OR56B4	196335	broad.mit.edu	37	11	6129720	6129720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:6129720G>T	ENST00000316529.3	+	1	807	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E238*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACTCAGCAGAAGCAATGTC	0.493000													23	24					1.28384e-07	1.45594e-07	0.062417	1	0
UTP18	51096	broad.mit.edu	37	17	49357465	49357465	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:49357465A>C	ENST00000225298.7	+	8	1169	c.1112A>C	c.(1111-1113)aAg>aCg	p.K371T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	371					rRNA processing	nucleolus		p.K371T(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTAGCAATGAAGGTAAAGCAT	0.418000													16	24					0	0	0.028581	0	0
CCDC38	120935	broad.mit.edu	37	12	96266046	96266046	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:96266046C>G	ENST00000344280.3	-	14	2028	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	491								p.E491Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGCCGCCATTCTTTCTGTTTC	0.403000													22	133					0	0	0.083992	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489627	73489627	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:73489627A>G	ENST00000314256.7	+	17	2536	c.2142A>G	c.(2140-2142)acA>acG	p.T714T	KIAA0195_ENST00000375248.5_Silent_p.T724T|KIAA0195_ENST00000579208.1_Silent_p.T365T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	714					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.T714T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGCCTGCACAGACTTCTGGG	0.612000													16	31					0	0	0.033300	0	0
SNTA1	6640	broad.mit.edu	37	20	32026723	32026723	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:32026723C>G	ENST00000217381.2	-	2	691	c.420G>C	c.(418-420)ggG>ggC	p.G140G		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	140	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	p.G140G(1)		breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						ACAAGTCTTCCCCATTCACAG	0.532000													11	141					0	0	0.080935	0	0
NDC80	10403	broad.mit.edu	37	18	2595619	2595619	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr18:2595619C>T	ENST00000261597.4	+	11	1402	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	407	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	p.A407V(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GGCAAAGAAGCGGTATGTCAT	0.408000													16	41					0	0	0.028581	0	0
FUT1	2523	broad.mit.edu	37	19	49253764	49253764	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:49253764C>G	ENST00000310160.3	-	4	1749	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	259			V -> E (in Bombay H-).		L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	p.V259L(1)		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)		CTGGTGACCACGAAAACGGGG	0.617000													5	122					0	0	0.014758	0	0
ACO2	50	broad.mit.edu	37	22	41923345	41923345	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:41923345G>C	ENST00000396512.3	+	16	2099	c.2082G>C	c.(2080-2082)tcG>tcC	p.S694S	POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000216254.4_Silent_p.S669S|POLR3H_ENST00000396504.2_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	669					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.S669S(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCGAGGGCTCGAGCCGGGAGC	0.617000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	17					0	0	0.049695	0	0
SEPT1	1731	broad.mit.edu	37	16	30392786	30392786	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:30392786G>A	ENST00000321367.3	-	6	500	c.455C>T	c.(454-456)cCg>cTg	p.P152L	SEPT1_ENST00000605106.1_Missense_Mutation_p.P110L|SEPT1_ENST00000571393.1_Missense_Mutation_p.P105L	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	105					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	p.P105L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTTCACCACCGGAAGCCAGCT	0.562000													4	114					0	0	0.009096	0	0
EIF3I	8668	broad.mit.edu	37	1	32688180	32688180	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:32688180G>C	ENST00000373586.1	+	2	117	c.45G>C	c.(43-45)caG>caC	p.Q15H	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	15						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.Q15H(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCATTACGCAGATTAAGTATA	0.597000													22	72					0	0	0.083992	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973474	31973474	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:31973474G>T	ENST00000334680.2	+	1	61	c.35G>T	c.(34-36)gGc>gTc	p.G12V		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	12						intermediate filament		p.G12V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GGTGGCCAGGGCTATGCCAAA	0.463000													34	96					1.45844e-13	1.76262e-13	0.054565	1	0
NTRK1	4914	broad.mit.edu	37	1	156845891	156845891	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:156845891C>A	ENST00000368196.3	+	12	1623	c.1503C>A	c.(1501-1503)cgC>cgA	p.R501R	NTRK1_ENST00000392302.2_Silent_p.R471R|NTRK1_ENST00000358660.3_Silent_p.R504R|NTRK1_ENST00000524377.1_Silent_p.R507R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	507					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R507R(1)|p.R471R(1)|p.R471>?(1)|p.R507>?(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACATCAAGCGCCGGGACATCG	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			11	116					6.40141e-05	6.90764e-05	0.080935	1	0
MYLK	4638	broad.mit.edu	37	3	123419119	123419119	+	Missense_Mutation	SNP	C	C	T	rs72491150		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:123419119C>T	ENST00000360772.3	-	19	3574	c.3196G>A	c.(3196-3198)Gaa>Aaa	p.E1066K	MYLK_ENST00000359169.1_Missense_Mutation_p.E1066K|MYLK_ENST00000475616.1_Missense_Mutation_p.E1066K|MYLK_ENST00000360304.3_Missense_Mutation_p.E1066K|MYLK_ENST00000346322.5_Missense_Mutation_p.E997K			Q15746	MYLK_HUMAN	myosin light chain kinase	1066	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.E1066K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTTGAGTTCTTCTTTGCTA	0.527000													141	162					0	0	0.048971	0	0
POLR2F	5435	broad.mit.edu	37	22	38355472	38355472	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:38355472G>T	ENST00000442738.2	+	3	335	c.210G>T	c.(208-210)gcG>gcT	p.A70A	POLR2F_ENST00000405557.1_Silent_p.A70A|POLR2F_ENST00000488684.1_3'UTR|POLR2F_ENST00000606538.1_Silent_p.A70A|POLR2F_ENST00000460648.1_Intron|POLR2F_ENST00000470701.1_Silent_p.A65A|POLR2F_ENST00000407936.1_Silent_p.A70A	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	70					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	p.A70A(1)		breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					GCACCCGAGCGCTCCAGATTG	0.587000													26	121					3.65163e-15	4.43862e-15	0.030593	1	0
PRDM16	63976	broad.mit.edu	37	1	3328010	3328010	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:3328010G>A	ENST00000378398.3	+	10	1334	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	PRDM16_ENST00000441472.2_Missense_Mutation_p.A417T|PRDM16_ENST00000270722.5_Missense_Mutation_p.A417T|PRDM16_ENST00000442529.2_Missense_Mutation_p.A417T|PRDM16_ENST00000378391.2_Missense_Mutation_p.A417T|PRDM16_ENST00000511072.1_Missense_Mutation_p.A418T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.A418T			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	417					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.A417T(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCGGATGCACGCCGACTGCCG	0.572000			T	EVI1	"""MDS, AML"""								9	30					0	0	0.047766	0	0
TCHH	7062	broad.mit.edu	37	1	152081550	152081550	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152081550C>G	ENST00000368804.1	-	2	4142	c.4143G>C	c.(4141-4143)caG>caC	p.Q1381H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1381	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.Q1381H(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)			GGCGCAGCCGCTGTTCCTCCT	0.602000													21	242					0	0	0.049695	0	0
ZNF609	23060	broad.mit.edu	37	15	64966254	64966254	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:64966254A>C	ENST00000326648.3	+	4	1329	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	401						nucleus	zinc ion binding	p.T401P(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCAAAACCCGGGCAGG	0.587000													4	124					0	0	0.029380	0	0
XIRP2	129446	broad.mit.edu	37	2	168108453	168108453	+	Silent	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:168108453A>C	ENST00000409195.1	+	9	10640	c.10551A>C	c.(10549-10551)atA>atC	p.I3517I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.I3517I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.I3295I|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3342					actin cytoskeleton organization	cell junction	actin binding	p.I3517I(1)		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						CTGCATTTATAAGTGGTAAAT	0.408000													4	68					0	0	0.021553	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087121	39087121	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:39087121C>G	ENST00000609713.1	-	3	928	c.339G>C	c.(337-339)ttG>ttC	p.L113F	KCNJ6_ENST00000288309.6_Missense_Mutation_p.L113F	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L113F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TGTATGCGATCAACCACCAGA	0.453000													60	128					0	0	0.048971	0	0
MCM3AP	8888	broad.mit.edu	37	21	47655203	47655203	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:47655203C>A	ENST00000397708.1	-	29	6176	c.5922G>T	c.(5920-5922)ctG>ctT	p.L1974L	MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.L1974L|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1974					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.L1974L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCATGTCTAGCAGCGCAGAGA	0.507000													4	68					0.00024832	0.000264583	0.009096	1	0
FGA	2243	broad.mit.edu	37	4	155505644	155505644	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:155505644C>A	ENST00000302053.3	-	6	2311	c.2233G>T	c.(2233-2235)Ggc>Tgc	p.G745C		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	745	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G745>?(1)|p.G745C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCCTCAGAGCCTACCCGGAAG	0.522000													15	44					2.48551e-13	2.98684e-13	0.033300	1	0
MECOM	2122	broad.mit.edu	37	3	168845829	168845829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:168845829G>T	ENST00000464456.1	-	4	1269	c.69C>A	c.(67-69)tgC>tgA	p.C23*	MECOM_ENST00000494292.1_Nonsense_Mutation_p.C211*|MECOM_ENST00000468789.1_Nonsense_Mutation_p.C23*|MECOM_ENST00000460814.1_Nonsense_Mutation_p.C23*|MECOM_ENST00000392736.3_Nonsense_Mutation_p.C23*|MECOM_ENST00000433243.2_Nonsense_Mutation_p.C23*|MECOM_ENST00000264674.3_Nonsense_Mutation_p.C87*|MECOM_ENST00000472280.1_Nonsense_Mutation_p.C23*	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.C23*(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						CACAGTCTTCGCAGCGATATT	0.433000													12	120					0.00010058	0.000108258	0.093190	1	0
MASP2	10747	broad.mit.edu	37	1	11102931	11102931	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:11102931C>T	ENST00000400897.3	-	6	905		c.e6+1			NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2						complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.?(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CACTTGCTCACCTGTGCTCGT	0.547000													25	92					0	0	0.030593	0	0
KRT76	51350	broad.mit.edu	37	12	53170846	53170846	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:53170846C>T	ENST00000332411.2	-	1	283	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	77	Head.				cytoskeleton organization	keratin filament	structural molecule activity	p.R77Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCCAGCCCGGGAGCTGCC	0.632000													16	153					0	0	0.033300	0	0
LMBR1L	55716	broad.mit.edu	37	12	49491848	49491848	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:49491848G>A	ENST00000267102.8	-	16	1623	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	LMBR1L_ENST00000395141.4_Silent_p.F422F|LMBR1L_ENST00000547382.1_Silent_p.F407F	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	427					endocytosis	integral to membrane|plasma membrane	receptor activity	p.F427F(1)|p.F422F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAGCCAGTTGAAGCGTCCAA	0.572000											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	106					0	0	0.034045	0	0
LCT	3938	broad.mit.edu	37	2	136567117	136567117	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:136567117T>C	ENST00000264162.2	-	8	2810	c.2800A>G	c.(2800-2802)Aac>Gac	p.N934D		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	934	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.N934D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGTAAAGTTATCCCAGATG	0.552000													4	61					0	0	0.009096	0	0
FOXG1	2290	broad.mit.edu	37	14	29237689	29237689	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:29237689C>T	ENST00000382535.3	+	2	1573	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F	FOXG1_ENST00000313071.4_Missense_Mutation_p.L402F			P55316	FOXG1_HUMAN	forkhead box G1	402	Interaction with KDM5B.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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	p.L402F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GACCTACTCCCTCAACCCCTG	0.672000													3	19					0	0	0.004672	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128659	68128659	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:68128659C>A	ENST00000585558.1	+	4	924	c.536C>A	c.(535-537)tCt>tAt	p.S179Y	KCNJ16_ENST00000589377.1_Missense_Mutation_p.S144Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.S144Y|KCNJ16_ENST00000392670.1_Missense_Mutation_p.S144Y|KCNJ16_ENST00000283936.1_Missense_Mutation_p.S144Y|KCNJ16_ENST00000586462.1_Missense_Mutation_p.S183Y			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	144					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S144Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GAAGAATGTTCTGTGGCCGTG	0.458000													23	41					7.41877e-09	8.59765e-09	0.062417	1	0
HMCN1	83872	broad.mit.edu	37	1	186062301	186062301	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:186062301G>C	ENST00000271588.4	+	65	10152	c.9923G>C	c.(9922-9924)gGa>gCa	p.G3308A	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3308A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3308	Ig-like C2-type 31.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G3308A(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACATTTATGGAGCTCTTACA	0.383000													4	125					0	0	0.009096	0	0
HECTD4	283450	broad.mit.edu	37	12	112605677	112605677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:112605677G>A	ENST00000550722.1	-	71	12210	c.11815C>T	c.(11815-11817)Cag>Tag	p.Q3939*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q3913*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.Q3663*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.Q3663*(1)|p.Q3913*(1)									GAGGAACTCTGCAGCTCCTTA	0.642000													12	51					0	0	0.105934	0	0
MYO3A	53904	broad.mit.edu	37	10	26455034	26455034	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:26455034G>A	ENST00000265944.5	+	27	3204	c.3038G>A	c.(3037-3039)cGc>cAc	p.R1013H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1013	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1013H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGAGCCCCGCATGAGCCCT	0.448000													12	295					0	0	0.093190	0	0
PKNOX2	63876	broad.mit.edu	37	11	125298937	125298937	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:125298937G>T	ENST00000298282.9	+	11	1237	c.966G>T	c.(964-966)agG>agT	p.R322S	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R258S|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	322						nucleus	sequence-specific DNA binding transcription factor activity	p.R322S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ATGAGAAGAGGCAGATCGCAG	0.597000											OREG0021475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	17					3.35478e-16	4.10136e-16	0.024245	1	0
FRG1	2483	broad.mit.edu	37	4	190862215	190862215	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:190862215C>A	ENST00000226798.4	+	1	273	c.51C>A	c.(49-51)acC>acA	p.T17T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	17	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.T17T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCAAGGGAACCAAGACGAAGA	0.632000											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0.00909568	0.00940702	0.009096	1	0
UNC79	57578	broad.mit.edu	37	14	93944052	93944052	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:93944052A>G	ENST00000553484.1	+	4	751	c.597A>G	c.(595-597)acA>acG	p.T199T	UNC79_ENST00000555664.1_Silent_p.T199T|UNC79_ENST00000256339.4_Silent_p.T22T|UNC79_ENST00000393151.2_Silent_p.T199T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	199						integral to membrane		p.T199T(1)|p.T22T(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATCTTAGCACATCTTTTCTAC	0.343000													47	99					0	0	0.048971	0	0
GCN1L1	10985	broad.mit.edu	37	12	120568496	120568496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120568496G>C	ENST00000300648.6	-	56	7637	c.7625C>G	c.(7624-7626)aCa>aGa	p.T2542R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2542					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.T2542R(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTCCGCCTGTCTCGATGTG	0.602000													16	36					0	0	0.033300	0	0
CACTIN	58509	broad.mit.edu	37	19	3612107	3612107	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:3612107C>A	ENST00000429344.2	-	10	2143	c.2091G>T	c.(2089-2091)gaG>gaT	p.E697D	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.E697D|CACTIN_ENST00000221899.3_Missense_Mutation_p.E629D	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit									p.E629D(1)|p.E697D(1)									CGGCGCAGGCCTCCAGGAAGT	0.582000													17	181					3.41278e-10	4.02119e-10	0.033300	1	0
TRIM10	10107	broad.mit.edu	37	6	30128418	30128418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:30128418C>T	ENST00000449742.2	-	1	293	c.218G>A	c.(217-219)tGg>tAg	p.W73*	TRIM10_ENST00000376704.3_Nonsense_Mutation_p.W73*	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	73						cytoplasm	zinc ion binding	p.W73*(1)		ovary(1)	1						AGCCAGCTGCCAGTTGGGCCG	0.592000													102	60					0	0	0.048971	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383813	41383813	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:41383813A>C	ENST00000301146.4	-	6	1458	c.917T>G	c.(916-918)gTc>gGc	p.V306G	CYP2A7_ENST00000291764.3_Missense_Mutation_p.V255G|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	306						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.V306G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGTGGTGCTGACCGTCTCGGT	0.587000													11	56					0	0	0.080935	0	0
TTC40	54777	broad.mit.edu	37	10	134647018	134647018	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:134647018G>C	ENST00000368586.5	-	50	7061	c.6961C>G	c.(6961-6963)Cct>Gct	p.P2321A	TTC40_ENST00000263170.5_Missense_Mutation_p.P482A	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	482								p.P2321A(1)|p.P482A(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCAACCTCAGGCTGGACTGTG	0.582000													15	30					0	0	0.059317	0	0
KIAA0922	23240	broad.mit.edu	37	4	154502664	154502664	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:154502664G>A	ENST00000409663.3	+	9	896	c.844G>A	c.(844-846)Gat>Aat	p.D282N	KIAA0922_ENST00000440693.1_Missense_Mutation_p.D282N|KIAA0922_ENST00000409959.3_Missense_Mutation_p.D282N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	282						integral to membrane		p.D282N(1)|p.D134N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACATTTGTTAGATCATCTCTC	0.318000													20	28					0	0	0.049695	0	0
FGD4	121512	broad.mit.edu	37	12	32760950	32760950	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:32760950G>T	ENST00000427716.2	+	8	1477	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R	FGD4_ENST00000534526.2_Silent_p.R488R|FGD4_ENST00000525053.1_Silent_p.R463R|FGD4_ENST00000531134.1_Silent_p.R436R|FGD4_ENST00000381025.3_Silent_p.R103R|FGD4_ENST00000266482.3_Silent_p.R103R|FGD4_ENST00000546442.1_Silent_p.R258R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	351	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R351R(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CTGTTCAGCGGATTCCCCGGT	0.378000													49	131					4.0181e-32	5.15047e-32	0.048971	1	0
ETF1	2107	broad.mit.edu	37	5	137849377	137849377	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:137849377A>C	ENST00000499810.2	-	5	770	c.322T>G	c.(322-324)Tca>Gca	p.S108A	ETF1_ENST00000503014.1_Missense_Mutation_p.S127A|ETF1_ENST00000360541.5_Missense_Mutation_p.S141A	NM_001256302.1|NM_001282185.1	NP_001243231.1|NP_001269114.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	141					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	p.S141A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTATCATCTGAAAGTAGTGCT	0.403000													22	19					0	0	0.083992	0	0
RGPD3	653489	broad.mit.edu	37	2	107040796	107040796	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:107040796C>G	ENST00000409886.3	-	20	3714	c.3627G>C	c.(3625-3627)ttG>ttC	p.L1209F	RGPD3_ENST00000304514.7_Missense_Mutation_p.L1209F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1209					intracellular transport		binding	p.L1209F(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GATCATTTGTCAAAAATGTTT	0.408000													37	192					0	0	0.111260	0	0
EML1	2009	broad.mit.edu	37	14	100375681	100375681	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:100375681G>C	ENST00000262233.6	+	11	1243		c.e11-1		EML1_ENST00000327921.9_Splice_Site|EML1_ENST00000334192.4_Splice_Site	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.?(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTTTCCTATAGTGCTCTAATG	0.408000													9	124					0	0	0.058154	0	0
INSRR	3645	broad.mit.edu	37	1	156823630	156823630	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:156823630A>G	ENST00000368195.3	-	2	947	c.551T>C	c.(550-552)cTg>cCg	p.L184P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	184					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.L184P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCAGCACCCAGCACACCAGG	0.637000													6	57					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179547564	179547564	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179547564C>T	ENST00000589042.1	-	135	33178	c.32954G>A	c.(32953-32955)cGg>cAg	p.R10985Q	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9741Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10668Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10668	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9741Q(1)|p.R9741L(1)		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)			TTCTTCTTCCCGTTGTACTGA	0.353000													6	57					0	0	0.021553	0	0
NAV2	89797	broad.mit.edu	37	11	19970352	19970352	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:19970352C>T	ENST00000396085.1	+	10	2732	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	NAV2_ENST00000396087.3_Missense_Mutation_p.R814W|NAV2_ENST00000540292.1_Missense_Mutation_p.R745W|NAV2_ENST00000349880.4_Missense_Mutation_p.R791W|NAV2_ENST00000527559.2_Missense_Mutation_p.R743W|NAV2_ENST00000360655.4_Missense_Mutation_p.R727W	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	814						nucleus	ATP binding|helicase activity	p.R814W(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCCAGCCCTCGGCTCCAAGC	0.592000													4	17					0	0	0.009096	0	0
NUP210L	91181	broad.mit.edu	37	1	154018563	154018563	+	Silent	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154018563T>G	ENST00000368559.3	-	27	3749	c.3678A>C	c.(3676-3678)ctA>ctC	p.L1226L	NUP210L_ENST00000271854.3_Silent_p.L1226L|NUP210L_ENST00000368553.1_Silent_p.L159L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1226						integral to membrane		p.L1226L(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCCTGGGCACTAGATCCAATA	0.383000													4	81					0	0	0.009096	0	0
SLC12A2	6558	broad.mit.edu	37	5	127471428	127471428	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:127471428A>T	ENST00000262461.2	+	7	1525	c.1336A>T	c.(1336-1338)Att>Ttt	p.I446F	SLC12A2_ENST00000343225.4_Missense_Mutation_p.I446F	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	446					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.I446F(1)		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)	ACTTCTTGCTATTGGTGATTT	0.303000													3	55					0	0	0.014758	0	0
AMOTL1	154810	broad.mit.edu	37	11	94602363	94602363	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:94602363G>T	ENST00000433060.2	+	12	2630	c.2489G>T	c.(2488-2490)gGa>gTa	p.G830V	AMOTL1_ENST00000317829.8_Splice_Site_p.G780V|AMOTL1_ENST00000317837.9_Splice_Site_p.G417V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	830						cytoplasm|tight junction	identical protein binding	p.G831V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTGCCCTCAGGATTGCTGCTG	0.483000													3	19					1.024e-07	1.17068e-07	0.014758	1	0
TPM3	7170	broad.mit.edu	37	1	154130139	154130139	+	Silent	SNP	G	G	C	rs1051220		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154130139G>C	ENST00000368533.3	-	8	775	c.723C>G	c.(721-723)acC>acG	p.T241T	TPM3_ENST00000271850.7_Silent_p.T278T|TPM3_ENST00000302206.5_Silent_p.T151T|TPM3_ENST00000341372.3_Silent_p.T216T|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000341485.5_Silent_p.T225T|TPM3_ENST00000330188.9_Silent_p.T241T|TPM3_ENST00000328159.4_3'UTR	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3	277					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	p.T241T(1)	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGTCAAGCAGGGTCTGGTCCA	0.532000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								18	217					0	0	0.038395	0	0
MYOM3	127294	broad.mit.edu	37	1	24397687	24397687	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:24397687G>C	ENST00000330966.7	-	25	3235	c.3073C>G	c.(3073-3075)Ctt>Gtt	p.L1025V	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.L1024V|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.L1024V			Q5VTT5	MYOM3_HUMAN	myomesin 3	1024								p.L1024V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCAGCCAAAGCCGCACCTCC	0.547000											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	20					0	0	0.009096	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81442880	81442880	+	RNA	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:81442880C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							CAATGGCCAGCCAGACTCCAT	0.597000													8	8					0	0	0.047766	0	0
ORC4	5000	broad.mit.edu	37	2	148705641	148705641	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:148705641C>T	ENST00000392857.5	-	9	848	c.741G>A	c.(739-741)gaG>gaA	p.E247E	ORC4_ENST00000542387.1_Silent_p.E30E|ORC4_ENST00000392858.1_Silent_p.E247E|ORC4_ENST00000535373.1_Silent_p.E247E|ORC4_ENST00000540442.1_Silent_p.E173E|ORC4_ENST00000264169.2_Silent_p.E247E|ORC4_ENST00000536575.1_Silent_p.E163E	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	p.E247E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CATTCCACTTCTCAGCAAAAA	0.294000													6	94					0	0	0.021553	0	0
NLRP7	199713	broad.mit.edu	37	19	55450590	55450590	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:55450590C>G	ENST00000446217.1	-	6	2083	c.1681G>C	c.(1681-1683)Gag>Cag	p.E561Q	NLRP7_ENST00000328092.5_Missense_Mutation_p.E533Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.E533Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.E533Q|NLRP7_ENST00000588756.1_Missense_Mutation_p.E533Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.E533Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.E533Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	533							ATP binding	p.E533Q(2)|p.E533K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCTCCAACTCCTTGGCTCTC	0.498000													3	66					0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152283163	152283163	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152283163C>A	ENST00000368799.1	-	3	4234	c.4199G>T	c.(4198-4200)gGa>gTa	p.G1400V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1400	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1400V(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)			TTCTGAATGTCCCTCACTGTT	0.567000									Ichthyosis				11	585					0.0809354	0.0828951	0.080935	1	0
POU5F1	5460	broad.mit.edu	37	6	31133762	31133762	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:31133762C>G	ENST00000259915.8	-	2	540	c.468G>C	c.(466-468)aaG>aaC	p.K156N	POU5F1_ENST00000606567.1_5'UTR|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	156	POU-specific.				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.K156N(1)	EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						GGGTGATCCTCTTCTGCTTCA	0.498000			T	EWSR1	sarcoma								21	13					0	0	0.069288	0	0
SPEG	10290	broad.mit.edu	37	2	220337015	220337015	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:220337015T>A	ENST00000312358.7	+	15	4034	c.3902T>A	c.(3901-3903)cTc>cAc	p.L1301H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1301	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L1301H(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGGTCACACTCACATGGAAC	0.647000													7	38					0	0	0.047766	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544202	154544202	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154544202C>T	ENST00000368476.3	+	5	1167	c.903C>T	c.(901-903)ctC>ctT	p.L301L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	301					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.L301L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCAAGTACCTCATGTTCACCA	0.627000													8	102					0	0	0.038147	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602053	13602053	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:13602053G>C	ENST00000040738.5	-	10	6606	c.6471C>G	c.(6469-6471)tcC>tcG	p.S2157S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2157							DNA binding	p.S2157S(1)									TTGTTGCACTGGAGATAGGCA	0.498000													21	47					0	0	0.062417	0	0
HRSP12	10247	broad.mit.edu	37	8	99118512	99118512	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:99118512C>T	ENST00000254878.3	-	3	358	c.214G>A	c.(214-216)Gac>Aac	p.D72N		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	72					regulation of translational termination	nucleus	endonuclease activity	p.D72N(1)		large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTAGTGAAGTCACAGCCTGCA	0.363000													11	89					0	0	0.069234	0	0
WAC	51322	broad.mit.edu	37	10	28824669	28824669	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:28824669T>C	ENST00000375664.4	+	3	731	c.122T>C	c.(121-123)gTt>gCt	p.V41A	WAC_ENST00000532233.1_3'UTR|WAC_ENST00000347934.4_Missense_Mutation_p.V86A|WAC_ENST00000354911.4_Missense_Mutation_p.V86A|WAC_ENST00000375646.1_Missense_Mutation_p.V41A|WAC_ENST00000428935.1_Missense_Mutation_p.V41A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.V86A(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACTCACAGAGTTAGAGAGAGG	0.393000													22	42					0	0	0.091800	0	0
SPANXD	64648	broad.mit.edu	37	X	140785779	140785779	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:140785779T>C	ENST00000370515.3	-	2	470	c.137A>G	c.(136-138)gAg>gGg	p.E46G		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D									p.E46G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GGTCGAGGACTCAGATGTTTT	0.493000													7	88					0	0	0.029380	0	0
GBA	2629	broad.mit.edu	37	1	155209446	155209446	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:155209446C>A	ENST00000327247.5	-	5	647	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	GBA_ENST00000427500.3_Intron|GBA_ENST00000428024.3_Missense_Mutation_p.A52S|GBA_ENST00000536770.1_Intron|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.A139S	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	139					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.A139S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AAATTTTGGGCAGGGGGTGAC	0.468000									Gaucher disease type I				16	46					1.37522e-17	1.69598e-17	0.043863	1	0
GARNL3	84253	broad.mit.edu	37	9	130119519	130119519	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:130119519C>A	ENST00000373387.4	+	21	2309	c.1957C>A	c.(1957-1959)Ccc>Acc	p.P653T	GARNL3_ENST00000435213.2_Missense_Mutation_p.P631T|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_Missense_Mutation_p.P653T	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	653	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.P635T(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTCTGACTCTCCCATGGTGAT	0.527000													15	28					1.33834e-09	1.55955e-09	0.043863	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69015022	69015022	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:69015022A>T	ENST00000295381.3	+	4	819	c.400A>T	c.(400-402)Agc>Tgc	p.S134C	ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.S127C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.S108C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.S127C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.S134C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.S127C|ARHGAP25_ENST00000456116.2_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	134	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S127C(1)|p.S134C(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTCATGGCCAGCTCTCAGGC	0.542000													3	72					0	0	0.004672	0	0
METTL25	84190	broad.mit.edu	37	12	82793112	82793112	+	Missense_Mutation	SNP	C	C	T	rs141543492		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:82793112C>T	ENST00000248306.3	+	4	1139	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25									p.S357L(1)									AATATATATTCACCTTTAACC	0.318000													20	24					0	0	0.043863	0	0
FAM50B	26240	broad.mit.edu	37	6	3850672	3850672	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:3850672G>A	ENST00000380274.1	+	1	1053	c.627G>A	c.(625-627)gtG>gtA	p.V209V	FAM50B_ENST00000380272.3_Silent_p.V209V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	209						nucleus		p.V209V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCAACACGGTGCAGCAGTTCC	0.647000													35	53					0	0	0.054565	0	0
SPTA1	6708	broad.mit.edu	37	1	158650449	158650449	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:158650449T>C	ENST00000368147.4	-	5	782	c.602A>G	c.(601-603)gAa>gGa	p.E201G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						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.E201G(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)					TTGGAAGTCTTCAAATTTCTT	0.473000													4	141					0	0	0.009096	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887575	12887575	+	Silent	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12887575T>A	ENST00000535591.1	-	3	477	c.282A>T	c.(280-282)ccA>ccT	p.P94P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	94								p.P94P(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGTCCTGCACTGGTGTTTTGT	0.498000													17	265					0	0	0.043863	0	0
C12orf50	160419	broad.mit.edu	37	12	88420329	88420329	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:88420329G>T	ENST00000298699.2	-	3	249	c.69C>A	c.(67-69)atC>atA	p.I23I	C12orf50_ENST00000550553.1_Silent_p.I23I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	23								p.I23I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGATACAGCTGATCTTCACAC	0.373000													9	46					1.12685e-05	1.2413e-05	0.047766	1	0
MCCC2	64087	broad.mit.edu	37	5	70930791	70930791	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:70930791C>A	ENST00000340941.6	+	9	954	c.825C>A	c.(823-825)caC>caA	p.H275Q	MCCC2_ENST00000323375.8_Missense_Mutation_p.H237Q|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.H275Q	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	275	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	p.H275Q(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAGTGACCACTGGGCTTTGG	0.368000													36	28					9.45814e-24	1.19784e-23	0.074837	1	0
PPP2R2C	5522	broad.mit.edu	37	4	6325278	6325278	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:6325278G>T	ENST00000335585.5	-	9	1118	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.F365L|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.F348L|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.F358L|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.F358L	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	365					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.F365L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGTTCCGATCGAACATGCGGA	0.622000													6	21					3.59834e-05	3.90281e-05	0.021553	1	0
KMT2D	8085	broad.mit.edu	37	12	49444319	49444319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:49444319C>A	ENST00000301067.7	-	11	3051	c.3052G>T	c.(3052-3054)Gag>Tag	p.E1018*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E745*(1)|p.E1018*(1)									GGAAGGGGCTCCATCAGGATG	0.612000													21	32					1.10513e-12	1.32428e-12	0.069288	1	0
DNAI1	27019	broad.mit.edu	37	9	34514409	34514409	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:34514409C>T	ENST00000242317.4	+	17	1758	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	529					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	p.S529S(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATCCTACTCCAGCCAATTCC	0.567000									Kartagener syndrome				82	63					0	0	0.048971	0	0
ADAM12	8038	broad.mit.edu	37	10	128018989	128018989	+	Missense_Mutation	SNP	C	C	T	rs150357794		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:128018989C>T	ENST00000368679.4	-	2	487	c.178G>A	c.(178-180)Gac>Aac	p.D60N	ADAM12_ENST00000368676.4_Missense_Mutation_p.D60N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	60					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.D60N(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACCTTGGAGTCGAAGCTCTTC	0.473000													6	89					0	0	0.038147	0	0
PRDM15	63977	broad.mit.edu	37	21	43221851	43221851	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:43221851G>T	ENST00000422911.1	-	25	3247	c.3146C>A	c.(3145-3147)aCc>aAc	p.T1049N	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_Missense_Mutation_p.T1358N|PRDM15_ENST00000398548.1_Missense_Mutation_p.T1029N|PRDM15_ENST00000447207.2_Missense_Mutation_p.T992N|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1012N	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T1358N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGATGGTGTGGTCACATTTGG	0.557000													4	77					1.23904e-05	1.35781e-05	0.014758	1	0
PAAF1	80227	broad.mit.edu	37	11	73620513	73620513	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:73620513G>A	ENST00000544909.1	+	5	862	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	PAAF1_ENST00000535604.1_Missense_Mutation_p.R86Q|PAAF1_ENST00000536003.1_Missense_Mutation_p.R184Q|PAAF1_ENST00000544552.1_Missense_Mutation_p.R184Q|PAAF1_ENST00000541951.1_Missense_Mutation_p.R86Q|PAAF1_ENST00000376384.5_Missense_Mutation_p.R184Q|PAAF1_ENST00000310571.3_Missense_Mutation_p.R201Q			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	201					interspecies interaction between organisms	proteasome complex	protein binding	p.R201Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GGGACAGCACGACTTTGGGAT	0.517000													10	65					0	0	0.080935	0	0
IGSF9	57549	broad.mit.edu	37	1	159897153	159897153	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159897153T>C	ENST00000368094.1	-	21	3719	c.3522A>G	c.(3520-3522)gaA>gaG	p.E1174E	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.E1158E	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1174						cell junction|integral to membrane|synapse		p.E1158E(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTGGCCTGTTCGGGGTGGG	0.602000													90	61					0	0	0.048971	0	0
SMARCC1	6599	broad.mit.edu	37	3	47755937	47755937	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:47755937C>T	ENST00000254480.5	-	8	879	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	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	254					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.E254K(1)		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)		GGTGGATCTTCAATTTCAGCA	0.289000													22	49					0	0	0.030593	0	0
LSR	51599	broad.mit.edu	37	19	35757739	35757739	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:35757739A>G	ENST00000361790.3	+	8	1316	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	LSR_ENST00000354900.3_Splice_Site_p.E367G|LSR_ENST00000602122.1_Intron|LSR_ENST00000427250.1_Splice_Site_p.E230G|LSR_ENST00000360798.3_Splice_Site_p.E318G|LSR_ENST00000347609.4_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	386					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	p.E386G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGTCCCTAGAAGTCCGCAGT	0.597000													6	6					0	0	0.047766	0	0
MALL	7851	broad.mit.edu	37	2	110849283	110849283	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:110849283C>G	ENST00000272462.2	-	2	943	c.170G>C	c.(169-171)gGa>gCa	p.G57A	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	57	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding	p.G57A(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CATCACCCATCCTTGCAGCAA	0.433000													4	71					0	0	0.014758	0	0
TRERF1	55809	broad.mit.edu	37	6	42236926	42236926	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:42236926G>T	ENST00000541110.1	-	5	971	c.403C>A	c.(403-405)Ctt>Att	p.L135I	TRERF1_ENST00000340840.2_Missense_Mutation_p.L135I|TRERF1_ENST00000354325.2_Missense_Mutation_p.L135I|TRERF1_ENST00000372917.4_Missense_Mutation_p.L135I|TRERF1_ENST00000372922.4_Missense_Mutation_p.L135I			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	135					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.L135I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCTGGTAAGCTTCTGGGTC	0.562000													58	170					2.18419e-29	2.78287e-29	0.048971	1	0
ECSIT	51295	broad.mit.edu	37	19	11624758	11624758	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:11624758G>C	ENST00000270517.7	-	3	510	c.375C>G	c.(373-375)gaC>gaG	p.D125E	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.D125E|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.D125E|ECSIT_ENST00000592312.1_Missense_Mutation_p.D9E	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	125					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	p.D125E(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ACACAGCCAGGTCCCGCTCGA	0.597000													6	56					0	0	0.029380	0	0
TCF20	6942	broad.mit.edu	37	22	42606218	42606218	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:42606218C>A	ENST00000359486.3	-	1	5230	c.5094G>T	c.(5092-5094)tcG>tcT	p.S1698S	TCF20_ENST00000335626.4_Silent_p.S1698S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.S1698S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCCCATAACCGAAGACTCTG	0.557000													17	64					1.56452e-12	1.86947e-12	0.043863	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128844494	128844494	+	Silent	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:128844494A>C	ENST00000310343.9	-	20	2555	c.2556T>G	c.(2554-2556)tcT>tcG	p.S852S	ARHGAP32_ENST00000392657.3_Silent_p.S503S|ARHGAP32_ENST00000527272.1_Silent_p.S503S|ARHGAP32_ENST00000524655.1_Silent_p.S778S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	852					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.S503S(1)|p.S852S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGACAGGTTCAGAGCTTGCTG	0.443000													55	59					0	0	0.048971	0	0
NKAPL	222698	broad.mit.edu	37	6	28228103	28228103	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:28228103C>A	ENST00000343684.3	+	1	1006	c.954C>A	c.(952-954)atC>atA	p.I318I		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	318								p.I318I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAAGCGAATCCCACGAAGAG	0.463000													6	105					3.59834e-05	3.90281e-05	0.021553	1	0
RHOB	388	broad.mit.edu	37	2	20647450	20647450	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:20647450C>T	ENST00000272233.4	+	1	616	c.224C>T	c.(223-225)cCg>cTg	p.P75L		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	75					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	p.P75L(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CTCTCCTACCCGGACACCGAC	0.647000													22	65					0	0	0.062417	0	0
FAM83F	113828	broad.mit.edu	37	22	40415273	40415273	+	Silent	SNP	C	C	T	rs141929176		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:40415273C>T	ENST00000333407.6	+	2	685	c.591C>T	c.(589-591)gaC>gaT	p.D197D	FAM83F_ENST00000473717.1_Silent_p.D29D	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F									p.D197D(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCATCCTGGACGAGGCAGGAG	0.527000													12	59					0	0	0.080935	0	0
C1orf158	93190	broad.mit.edu	37	1	12819302	12819302	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12819302C>G	ENST00000288048.5	+	3	501	c.285C>G	c.(283-285)atC>atG	p.I95M	C1orf158_ENST00000376210.3_Missense_Mutation_p.I57M	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	95								p.I95M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACCTGATCAGCACCTATG	0.567000													54	178					0	0	0.048971	0	0
PRKD1	5587	broad.mit.edu	37	14	30066873	30066873	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:30066873T>C	ENST00000331968.5	-	16	2487	c.2258A>G	c.(2257-2259)gAg>gGg	p.E753G	PRKD1_ENST00000415220.2_Missense_Mutation_p.E761G	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	753	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.E753G(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTAGGACCTCAGGAGCCAG	0.488000													20	63					0	0	0.062417	0	0
FRG1B	284802	broad.mit.edu	37	20	29632710	29632710	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:29632710G>C	ENST00000278882.3	+	8	905	c.525G>C	c.(523-525)acG>acC	p.T175T	FRG1B_ENST00000358464.4_Silent_p.T175T														p.T175T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGCATGAGACGCTTCTGGACA	0.308000													15	341					0	0	0.043863	0	0
SELO	83642	broad.mit.edu	37	22	50649091	50649091	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:50649091G>A	ENST00000380903.2	+	5	1160	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN										p.D368N(1)					all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAATGCCTCCGACAACACCGG	0.672000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	35					0	0	0.108266	0	0
ITFG3	83986	broad.mit.edu	37	16	310048	310048	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:310048G>C	ENST00000399932.3	+	5	917	c.466G>C	c.(466-468)Gac>Cac	p.D156H	ITFG3_ENST00000450082.2_Missense_Mutation_p.D156H|ITFG3_ENST00000301678.3_Missense_Mutation_p.D156H|ITFG3_ENST00000442458.2_Missense_Mutation_p.D156H|ITFG3_ENST00000600536.1_Missense_Mutation_p.D156H|ITFG3_ENST00000301679.2_Missense_Mutation_p.D156H	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	156						integral to membrane		p.D156H(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGTGGCCCAAGACGTGGCCCT	0.622000													34	21					0	0	0.050027	0	0
SLC25A47	283600	broad.mit.edu	37	14	100792529	100792529	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:100792529C>A	ENST00000361529.3	+	3	186	c.108C>A	c.(106-108)atC>atA	p.I36I	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	36					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.I36I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ACACAGGCATCTGGCACTGCG	0.667000													9	10					2.80697e-09	3.26195e-09	0.080935	1	0
WWC2	80014	broad.mit.edu	37	4	184129307	184129307	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:184129307G>C	ENST00000403733.3	+	3	642	c.443G>C	c.(442-444)aGc>aCc	p.S148T	WWC2_ENST00000378925.3_Missense_Mutation_p.S50T|WWC2_ENST00000513834.1_Missense_Mutation_p.S148T|WWC2_ENST00000448232.2_Missense_Mutation_p.S148T	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	148								p.S148T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTCACACAAGCTGTAAGTAC	0.423000													4	13					0	0	0.009096	0	0
ST7L	54879	broad.mit.edu	37	1	113161720	113161720	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:113161720C>G	ENST00000358039.4	-	1	320	c.16G>C	c.(16-18)Ggc>Cgc	p.G6R	ST7L_ENST00000463235.1_Intron|ST7L_ENST00000369666.1_Missense_Mutation_p.G6R|ST7L_ENST00000543570.1_Missense_Mutation_p.G6R|ST7L_ENST00000490067.1_Missense_Mutation_p.G6R|ST7L_ENST00000369668.2_Missense_Mutation_p.G6R|ST7L_ENST00000544629.1_Missense_Mutation_p.G6R|ST7L_ENST00000343210.7_Missense_Mutation_p.G6R|ST7L_ENST00000360743.4_Missense_Mutation_p.G6R	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	6					negative regulation of cell growth	integral to membrane	binding	p.G6L(1)|p.G6R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACCCACGCCGCCACGGTCC	0.682000													8	5					0	0	0.058154	0	0
POM121	9883	broad.mit.edu	37	7	72412672	72412672	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:72412672T>C	ENST00000395270.1	+	14	2386	c.1345T>C	c.(1345-1347)Tcc>Ccc	p.S449P	POM121_ENST00000257622.4_Missense_Mutation_p.S449P|POM121_ENST00000434423.2_Missense_Mutation_p.S714P|POM121_ENST00000358357.3_Missense_Mutation_p.S449P|POM121_ENST00000446813.1_Missense_Mutation_p.S449P	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	714	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.S449P(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CACCTCACCTTCCAGCCCTGC	0.607000													6	76					0	0	0.038147	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370070	35370070	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:35370070C>G	ENST00000373347.1	-	3	1183	c.915G>C	c.(913-915)tcG>tcC	p.S305S	DLGAP3_ENST00000235180.4_Silent_p.S305S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	305					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.S305S(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCGACCCGCCCGAGCGCCCCT	0.657000													25	29					0	0	0.083992	0	0
MESDC2	23184	broad.mit.edu	37	15	81274291	81274291	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:81274291C>G	ENST00000261758.4	-	2	532	c.446G>C	c.(445-447)aGg>aCg	p.R149T		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	149	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		p.R149T(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GCTGCTTTACCTCTGGACGTC	0.418000													5	35					0	0	0.021553	0	0
ASXL2	55252	broad.mit.edu	37	2	25965729	25965729	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:25965729C>G	ENST00000435504.4	-	13	3770	c.3477G>C	c.(3475-3477)ttG>ttC	p.L1159F	ASXL2_ENST00000272341.4_Missense_Mutation_p.L642F|ASXL2_ENST00000336112.4_Missense_Mutation_p.L1131F|ASXL2_ENST00000404843.1_Missense_Mutation_p.L642F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.L1159F(1)|p.L642F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCATTTTCAAGGCTTCAG	0.458000													27	60					0	0	0.099896	0	0
TACR3	6870	broad.mit.edu	37	4	104510983	104510983	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:104510983T>C	ENST00000304883.2	-	5	1394	c.1254A>G	c.(1252-1254)gcA>gcG	p.A418A	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	418						integral to plasma membrane	tachykinin receptor activity	p.A418A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGTGGTGTCTGCATCGTTGG	0.517000													13	168					0	0	0.105934	0	0
C12orf60	144608	broad.mit.edu	37	12	14976352	14976352	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:14976352C>G	ENST00000330828.2	+	2	687	c.483C>G	c.(481-483)acC>acG	p.T161T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	161								p.T161T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CAGAAGACACCAAAGAGCAAT	0.413000													25	48					0	0	0.099896	0	0
VAT1L	57687	broad.mit.edu	37	16	77910312	77910312	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:77910312G>T	ENST00000302536.2	+	5	921	c.768G>T	c.(766-768)ggG>ggT	p.G256G	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	256							oxidoreductase activity|zinc ion binding	p.G256G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCCTCTGTGGGGACAACACTG	0.478000													10	135					1.58986e-06	1.78385e-06	0.069234	1	0
FRMD6	122786	broad.mit.edu	37	14	52167842	52167842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:52167842G>A	ENST00000395718.2	+	4	544	c.259G>A	c.(259-261)Gag>Aag	p.E87K	FRMD6_ENST00000344768.5_Missense_Mutation_p.E87K|FRMD6_ENST00000356218.4_Missense_Mutation_p.E87K|FRMD6_ENST00000554167.1_Missense_Mutation_p.E18K	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	87	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding	p.E87K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGGAAGAAAGAGGCCAGCAA	0.303000													3	10					0	0	0.009096	0	0
CLCNKB	1188	broad.mit.edu	37	1	16372138	16372138	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:16372138G>C	ENST00000375679.4	+	3	297	c.186G>C	c.(184-186)ctG>ctC	p.L62L		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb									p.L62L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCATGGCCCTGGTCAGCTGTG	0.627000													17	43					0	0	0.043863	0	0
NEK11	79858	broad.mit.edu	37	3	130871348	130871348	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:130871348G>A	ENST00000383366.4	+	8	1057	c.764G>A	c.(763-765)aGa>aAa	p.R255K	NEK11_ENST00000507910.1_Missense_Mutation_p.R255K|NEK11_ENST00000429253.2_Missense_Mutation_p.R255K|NEK11_ENST00000356918.4_Missense_Mutation_p.R255K|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000508196.1_Missense_Mutation_p.R255K|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000412440.2_Missense_Mutation_p.R107K|NEK11_ENST00000510688.1_Missense_Mutation_p.R255K|NEK11_ENST00000511262.1_Missense_Mutation_p.R255K	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	255	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.R255K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTCCCTGAGAGATATCCAAAA	0.333000													19	84					0	0	0.043863	0	0
RGS18	64407	broad.mit.edu	37	1	192127861	192127861	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:192127861G>A	ENST00000367460.3	+	1	275	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	32					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E32K(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAAAAGAAGAAACAAGCAA	0.289000													3	53					0	0	0.009096	0	0
MYH13	8735	broad.mit.edu	37	17	10248889	10248889	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:10248889C>A	ENST00000418404.3	-	13	1471	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	MYH13_ENST00000252172.4_Missense_Mutation_p.K436N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	436	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K436N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGGAACATCTTCTCGTAGA	0.517000													44	42					5.85753e-14	7.09953e-14	0.048971	1	0
ST7L	54879	broad.mit.edu	37	1	113161719	113161719	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:113161719C>A	ENST00000358039.4	-	1	321	c.17G>T	c.(16-18)gGc>gTc	p.G6V	ST7L_ENST00000463235.1_Intron|ST7L_ENST00000369666.1_Missense_Mutation_p.G6V|ST7L_ENST00000543570.1_Missense_Mutation_p.G6V|ST7L_ENST00000490067.1_Missense_Mutation_p.G6V|ST7L_ENST00000369668.2_Missense_Mutation_p.G6V|ST7L_ENST00000544629.1_Missense_Mutation_p.G6V|ST7L_ENST00000343210.7_Missense_Mutation_p.G6V|ST7L_ENST00000360743.4_Missense_Mutation_p.G6V	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	6					negative regulation of cell growth	integral to membrane	binding	p.G6V(1)|p.G6L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCACCCACGCCGCCACGGTC	0.687000													8	5					0.00621372	0.00648988	0.058154	1	0
HSF2	3298	broad.mit.edu	37	6	122733619	122733619	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:122733619G>A	ENST00000452194.1	+	2	382	c.195G>A	c.(193-195)ctG>ctA	p.L65L	HSF2_ENST00000368455.4_Silent_p.L65L	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	65					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.L65L(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TGAGGCAACTGAATATGTGTG	0.373000													47	39					0	0	0.048971	0	0
HINFP	25988	broad.mit.edu	37	11	119003661	119003661	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:119003661C>T	ENST00000350777.2	+	8	1026	c.963C>T	c.(961-963)ttC>ttT	p.F321F	HINFP_ENST00000527410.1_Silent_p.F321F	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	321					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.F321F(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACTGCACCTTCAGTGCCCGAT	0.522000													57	38					0	0	0.048971	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544007	154544007	+	Missense_Mutation	SNP	C	C	G	rs71628622		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:154544007C>G	ENST00000368476.3	+	5	972	c.708C>G	c.(706-708)ttC>ttG	p.F236L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	236					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.F236L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	AGCCGCTCTTCTACACCATCA	0.577000													10	130					0	0	0.093190	0	0
VSTM1	284415	broad.mit.edu	37	19	54561828	54561828	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:54561828G>A	ENST00000338372.2	-	3	262	c.87C>T	c.(85-87)ccC>ccT	p.P29P	VSTM1_ENST00000425006.2_Silent_p.P29P|VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Silent_p.P29P	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	29	Ig-like V-type.					integral to membrane		p.P29P(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CGTGGAGGGAGGGCTTGGGCG	0.498000													10	70					0	0	0.069234	0	0
MATN2	4147	broad.mit.edu	37	8	98973758	98973758	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:98973758G>T	ENST00000254898.5	+	5	1189	c.958G>T	c.(958-960)Gct>Tct	p.A320S	MATN2_ENST00000524308.1_Splice_Site_p.A320S|MATN2_ENST00000521689.1_Splice_Site_p.A320S|MATN2_ENST00000520016.1_Splice_Site_p.A320S|MATN2_ENST00000522025.2_Splice_Site_p.A36S	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	320	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding	p.A320S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GAGGTGTGTGGGTGAGTATCC	0.567000													6	48					0.0293803	0.0301648	0.029380	1	0
NUAK2	81788	broad.mit.edu	37	1	205272802	205272802	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:205272802C>A	ENST00000367157.3	-	7	1789	c.1663G>T	c.(1663-1665)Gac>Tac	p.D555Y		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	555					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D555Y(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCCAGCTGGTCAAAGGACTCA	0.687000													6	28					0.0215528	0.022182	0.021553	1	0
OXR1	55074	broad.mit.edu	37	8	107718631	107718631	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:107718631A>G	ENST00000445937.1	+	9	1143	c.882A>G	c.(880-882)ggA>ggG	p.G294G	OXR1_ENST00000531443.1_Silent_p.G294G|OXR1_ENST00000312046.6_Silent_p.G287G|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Silent_p.G295G|OXR1_ENST00000517566.2_Silent_p.G294G|OXR1_ENST00000497705.1_Silent_p.G227G	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	295					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.G206G(1)|p.G206>?(1)|p.G295G(1)|p.G295>?(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGCTATCAGGAAGGGACTTCT	0.348000													9	62					0	0	0.058154	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380773	28380773	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:28380773G>C	ENST00000394835.3	+	10	1993	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	EFCAB5_ENST00000394832.2_Missense_Mutation_p.E601Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E601Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E601Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E545Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E258Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	601							calcium ion binding	p.E601Q(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATCAAGCAGAGAGTCAGTTGC	0.478000													12	109					0	0	0.093190	0	0
C6orf222	389384	broad.mit.edu	37	6	36291125	36291125	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:36291125G>T	ENST00000437635.2	-	8	1593	c.1416C>A	c.(1414-1416)ccC>ccA	p.P472P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	472								p.P472P(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCAGAAAGCTGGGCCTCTTGG	0.617000													20	62					1.63847e-34	2.1066e-34	0.048971	1	0
SEL1L	6400	broad.mit.edu	37	14	81946033	81946033	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:81946033C>A	ENST00000336735.4	-	20	2214	c.2098G>T	c.(2098-2100)Gat>Tat	p.D700Y		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	700	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D700Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACTTGTGCATCTGGGCTGGCT	0.418000													6	60					2.0095e-06	2.24279e-06	0.029380	1	0
WNK1	65125	broad.mit.edu	37	12	936296	936296	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:936296C>G	ENST00000537687.1	+	3	1664	c.1021C>G	c.(1021-1023)Cga>Gga	p.R341G	WNK1_ENST00000447667.2_Missense_Mutation_p.R341G|WNK1_ENST00000535572.1_Missense_Mutation_p.R341G|WNK1_ENST00000315939.6_Missense_Mutation_p.R341G|WNK1_ENST00000530271.2_Missense_Mutation_p.R341G	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	341	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.R341G(2)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTTCATACTCGAACTCCACC	0.438000													18	228					0	0	0.043863	0	0
NUDT1	4521	broad.mit.edu	37	7	2284269	2284269	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:2284269G>C	ENST00000397049.1	+	3	231	c.129G>C	c.(127-129)ctG>ctC	p.L43L	NUDT1_ENST00000397048.1_Silent_p.L43L|NUDT1_ENST00000343985.4_Silent_p.L43L|NUDT1_ENST00000397046.1_Silent_p.L20L|NUDT1_ENST00000339737.2_Silent_p.L20L|NUDT1_ENST00000356714.1_Silent_p.L20L	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	61					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	p.L43L(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGTTCTCCTGGGCATGAAAA	0.602000								Modulation of nucleotide pools					35	35					0	0	0.069456	0	0
C6orf222	389384	broad.mit.edu	37	6	36291126	36291126	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:36291126G>T	ENST00000437635.2	-	8	1592	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	472								p.P472H(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CAGAAAGCTGGGCCTCTTGGG	0.612000													25	62					6.65942e-36	8.58821e-36	0.048971	1	0
MASP1	5648	broad.mit.edu	37	3	187003830	187003830	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:187003830T>C	ENST00000337774.5	-	2	409	c.20A>G	c.(19-21)tAt>tGt	p.Y7C	MASP1_ENST00000392470.2_5'UTR|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.Y7C|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.Y7C	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	7					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.Y7C(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGAGCATAATAGAGAAGCAG	0.468000													7	48					0	0	0.029380	0	0
GABBR1	2550	broad.mit.edu	37	6	29572648	29572648	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:29572648A>G	ENST00000377034.4	-	21	2892	c.2557T>C	c.(2557-2559)Ttt>Ctt	p.F853L	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Missense_Mutation_p.F736L|GABBR1_ENST00000377012.4_Missense_Mutation_p.F736L|GABBR1_ENST00000377016.4_Missense_Mutation_p.F791L	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	853					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.F853L(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TTGGGCACAAAGAGCACAACA	0.502000													3	54					0	0	0.004672	0	0
ITIH5	80760	broad.mit.edu	37	10	7608067	7608067	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:7608067G>T	ENST00000256861.6	-	13	2531	c.2453C>A	c.(2452-2454)cCc>cAc	p.P818H	ITIH5_ENST00000446830.2_Missense_Mutation_p.P600H|ITIH5_ENST00000298441.6_Missense_Mutation_p.P604H|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	818					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P818>?(1)|p.P818H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCGCTGGAAGGGCGCCGGCTT	0.597000													31	65					6.00712e-18	7.45165e-18	0.050027	1	0
MSANTD4	84437	broad.mit.edu	37	11	105880645	105880645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:105880645G>C	ENST00000301919.4	-	3	2070	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V		NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	219						nucleus		p.L219V(1)									TCGATATCCAGTCGTCGTTTT	0.443000													4	101					0	0	0.009096	0	0
CD5	921	broad.mit.edu	37	11	60885820	60885820	+	Silent	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:60885820T>C	ENST00000347785.3	+	3	434	c.268T>C	c.(268-270)Tta>Cta	p.L90L		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	90	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.L90L(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TGGGGTGCCCTTAAGCCTTGG	0.582000													5	175					0	0	0.014758	0	0
ZNF418	147686	broad.mit.edu	37	19	58438177	58438177	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:58438177C>G	ENST00000396147.1	-	4	1663	c.1372G>C	c.(1372-1374)Gag>Cag	p.E458Q	ZNF418_ENST00000425570.3_Missense_Mutation_p.E479Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.E458Q|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.E373Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E458Q(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTCCTACACTCTCTACACTCA	0.443000													96	44					0	0	0.048971	0	0
OR14K1	343170	broad.mit.edu	37	1	247902195	247902195	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:247902195G>T	ENST00000283225.2	+	1	279	c.279G>T	c.(277-279)ctG>ctT	p.L93L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.L93L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCTCCTTCCTGGGGTGTGTGT	0.532000													5	88					0.014758	0.0152259	0.014758	1	0
ADAM9	8754	broad.mit.edu	37	8	38948794	38948794	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:38948794C>G	ENST00000487273.2	+	20	2305	c.2227C>G	c.(2227-2229)Caa>Gaa	p.Q743E		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	743				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.Q743E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TGGCAAAAATCAAGCAAACCC	0.338000													14	149					0	0	0.105934	0	0
HRNR	388697	broad.mit.edu	37	1	152193791	152193791	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152193791G>T	ENST00000368801.2	-	3	389	c.314C>A	c.(313-315)aCt>aAt	p.T105N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	105					keratinization		calcium ion binding|protein binding	p.T105N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTGGTGAGTGTCATCTCT	0.413000													10	124					7.48243e-07	8.41773e-07	0.058154	1	0
ECM2	1842	broad.mit.edu	37	9	95285103	95285103	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:95285103G>C	ENST00000344604.5	-	2	195	c.46C>G	c.(46-48)Caa>Gaa	p.Q16E	ECM2_ENST00000444490.2_Missense_Mutation_p.Q16E|ECM2_ENST00000375540.1_Missense_Mutation_p.Q16E|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	16					cell-matrix adhesion		integrin binding	p.Q16E(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAGTCAGTTTGAAAAATGATA	0.338000													21	18					0	0	0.055883	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751625	140751625	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:140751625G>A	ENST00000576222.1	+	1	1795	c.1664G>A	c.(1663-1665)cGc>cAc	p.R555H	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGACGACCGCAACGACAAT	0.667000													3	30					0	0	0.009096	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664690	22664690	+	RNA	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:22664690C>T	ENST00000426066.1	+	0	871					NR_027293.1																						GACACCTGGTCAGGAACGCGG	0.488000													10	16					0	0	0.069234	0	0
CAPN10	11132	broad.mit.edu	37	2	241531491	241531491	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:241531491G>A	ENST00000391984.2	+	4	808	c.612G>A	c.(610-612)gaG>gaA	p.E204E	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.E204E|CAPN10_ENST00000404753.3_Silent_p.E204E|CAPN10_ENST00000354082.4_Silent_p.E204E|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	204	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.E204E(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCGCTGGGAGCACAGGACTT	0.657000													7	8					0	0	0.038147	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908838	24908838	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:24908838A>C	ENST00000396432.2	-	9	2472	c.1986T>G	c.(1984-1986)aaT>aaG	p.N662K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.N449K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	661					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.N661K(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATGTCTGCTGATTCAACAGAC	0.478000													3	92					0	0	0.004672	0	0
BCL2L1	598	broad.mit.edu	37	20	30309576	30309576	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:30309576G>T	ENST00000307677.4	-	2	856	c.446C>A	c.(445-447)gCa>gAa	p.A149E	BCL2L1_ENST00000376062.2_Missense_Mutation_p.A149E|BCL2L1_ENST00000420653.1_Missense_Mutation_p.A149E|BCL2L1_ENST00000376055.4_Intron	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	149					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	p.A149E(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CACGCACAGTGCCCCGCCGAA	0.537000													9	175					3.07112e-06	3.40967e-06	0.080935	1	0
U2AF2	11338	broad.mit.edu	37	19	56181003	56181003	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:56181003A>G	ENST00000450554.2	+	11	2185	c.1226A>G	c.(1225-1227)aAg>aGg	p.K409R	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.K413R|U2AF2_ENST00000590551.1_Missense_Mutation_p.K245R|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	413	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.K413R(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGGCTTGTCAAGTCCATCGAG	0.642000													23	12					0	0	0.030593	0	0
FLG	2312	broad.mit.edu	37	1	152285220	152285220	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152285220G>T	ENST00000368799.1	-	3	2177	c.2142C>A	c.(2140-2142)ctC>ctA	p.L714L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	714	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.L714L(1)|p.Q715E(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)			CTGCTGACTGGAGCTGGTGGC	0.567000									Ichthyosis				536	371					4.65819e-235	6.04421e-235	0.048971	1	0
OBSCN	84033	broad.mit.edu	37	1	228471295	228471295	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:228471295G>A	ENST00000570156.2	+	38	10190	c.10116G>A	c.(10114-10116)gcG>gcA	p.A3372A	OBSCN_ENST00000359599.6_Silent_p.A1790A|OBSCN_ENST00000366707.4_Silent_p.A62A|OBSCN_ENST00000284548.11_Silent_p.A2943A|OBSCN_ENST00000422127.1_Silent_p.A2943A|OBSCN_ENST00000366709.4_Silent_p.A62A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2406	Ig-like 34.		E -> D (in dbSNP:rs3795789).		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A3127A(1)|p.A2943A(1)|p.A2997A(1)|p.A3226A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCACCCCGCGGCCACAGTGA	0.632000													3	37					0	0	0.004672	0	0
OPCML	4978	broad.mit.edu	37	11	132290160	132290160	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:132290160T>A	ENST00000331898.7	-	7	1543	c.965A>T	c.(964-966)aAc>aTc	p.N322I	OPCML_ENST00000374778.4_Missense_Mutation_p.N281I|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.N315I|OPCML_ENST00000541867.1_Missense_Mutation_p.N331I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	322					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.N322I(1)|p.N315I(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGAGGCCGAGTTTACACCATC	0.502000													7	46					0	0	0.029380	0	0
PTPRC	5788	broad.mit.edu	37	1	198719627	198719627	+	Missense_Mutation	SNP	T	T	A	rs146768191		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:198719627T>A	ENST00000367376.2	+	29	3244	c.3073T>A	c.(3073-3075)Tgg>Agg	p.W1025R	PTPRC_ENST00000594404.1_Missense_Mutation_p.W864R|PTPRC_ENST00000352140.3_Missense_Mutation_p.W977R|PTPRC_ENST00000442510.2_Missense_Mutation_p.W1027R|PTPRC_ENST00000348564.6_Missense_Mutation_p.W866R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1025	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.W1025R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGAGCTACTGGAAACCTGA	0.383000													6	74					0	0	0.058154	0	0
SLC4A8	9498	broad.mit.edu	37	12	51847456	51847456	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:51847456C>A	ENST00000453097.2	+	5	764	c.547C>A	c.(547-549)Cat>Aat	p.H183N	SLC4A8_ENST00000514353.3_Missense_Mutation_p.H130N|SLC4A8_ENST00000358657.3_Missense_Mutation_p.H210N|SLC4A8_ENST00000535225.2_Missense_Mutation_p.H130N|SLC4A8_ENST00000394856.1_Missense_Mutation_p.H130N	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	183					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.H183N(2)|p.H130N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCTGGATATGCATGCAAATAG	0.443000													3	64					0.004672	0.00489172	0.004672	1	0
IREB2	3658	broad.mit.edu	37	15	78758753	78758753	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:78758753G>T	ENST00000258886.8	+	5	700	c.551G>T	c.(550-552)gGc>gTc	p.G184V	IREB2_ENST00000560440.1_Missense_Mutation_p.G184V|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	184							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.G184V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGAGAACTAGGCCGAAACTCA	0.458000													8	41					0.000274275	0.000290773	0.047766	1	0
ITGAD	3681	broad.mit.edu	37	16	31429662	31429662	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:31429662C>T	ENST00000389202.2	+	22	2706	c.2657C>T	c.(2656-2658)aCc>aTc	p.T886I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	886					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.T886I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TACAAGGCCACCCTGGGAGAC	0.577000													7	96					0	0	0.029380	0	0
MOS	4342	broad.mit.edu	37	8	57025924	57025924	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:57025924G>T	ENST00000311923.1	-	1	617	c.618C>A	c.(616-618)aaC>aaA	p.N206K		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	206	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.N206K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGATCAAGATGTTCGCGGGCT	0.483000													18	32					3.41278e-10	4.02119e-10	0.033300	1	0
ARRDC3	57561	broad.mit.edu	37	5	90669643	90669643	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:90669643T>C	ENST00000265138.3	-	7	1312	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	349					signal transduction	cytoplasm	protein binding	p.Y349C(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		CACTTCTGCATAGCTGGGTGG	0.428000													38	26					0	0	0.069456	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011251	2011251	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:2011251C>T	ENST00000543683.2	+	2	310	c.228C>T	c.(226-228)atC>atT	p.I76I	NDUFB10_ENST00000268668.6_Silent_p.I76I|NDUFB10_ENST00000569148.1_Silent_p.I76I			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	76					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.I76I(1)		lung(1)|urinary_tract(1)	2					NADH(DB00157)	AGGAGGACATCATGTGCATGT	0.537000													39	27					0	0	0.086207	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	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	48					0	0	0.038147	0	0
FCER1A	2205	broad.mit.edu	37	1	159273848	159273848	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:159273848C>T	ENST00000368115.1	+	4	306	c.207C>T	c.(205-207)agC>agT	p.S69S	FCER1A_ENST00000368114.1_Silent_p.S36S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	69	Ig-like 1.					integral to plasma membrane		p.S69S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAATGGCAGCCTTTCAGAAG	0.368000													67	37					0	0	0.048971	0	0
LRIG3	121227	broad.mit.edu	37	12	59274438	59274438	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:59274438C>T	ENST00000320743.3	-	13	2012	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	LRIG3_ENST00000379141.4_Missense_Mutation_p.E516K	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	576	Ig-like C2-type 1.					integral to membrane		p.E576K(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TATTTCCCCTCACTGGCAAAT	0.468000			T	ROS1	NSCLC								9	35					0	0	0.058154	0	0
GPR141	353345	broad.mit.edu	37	7	37780823	37780823	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:37780823C>G	ENST00000447769.1	+	4	1117	c.828C>G	c.(826-828)agC>agG	p.S276R	GPR141_ENST00000334425.1_Missense_Mutation_p.S276R|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	276						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S276R(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCAATTAGCTGCTATGATT	0.378000													10	152					0	0	0.069234	0	0
AFF1	4299	broad.mit.edu	37	4	88036209	88036209	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:88036209C>G	ENST00000307808.6	+	11	2623	c.2203C>G	c.(2203-2205)Cgc>Ggc	p.R735G	AFF1_ENST00000544085.1_Missense_Mutation_p.R373G|AFF1_ENST00000395146.4_Missense_Mutation_p.R742G	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	735						nucleus	sequence-specific DNA binding transcription factor activity	p.R742G(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAGGACAGCCGCAAAGACAG	0.607000													10	22					0	0	0.020292	0	0
GLIS1	148979	broad.mit.edu	37	1	54060429	54060429	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:54060429C>A	ENST00000312233.2	-	3	713	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	49					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.L49L(1)|p.L49>?(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTGGAGGCCCAGGCCAGAGC	0.711000													4	18					0.00909568	0.00940702	0.009096	1	0
FGFR4	2264	broad.mit.edu	37	5	176518005	176518005	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:176518005T>A	ENST00000292408.4	+	5	748	c.503T>A	c.(502-504)gTc>gAc	p.V168D	FGFR4_ENST00000393648.2_Missense_Mutation_p.V168D|FGFR4_ENST00000393637.1_Missense_Mutation_p.V168D|FGFR4_ENST00000292410.3_Missense_Mutation_p.V168D|FGFR4_ENST00000502906.1_Missense_Mutation_p.V168D	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	168	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.V168D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GGGAACACCGTCAAGTTCCGC	0.612000										TSP Lung(9;0.080)			14	11					0	0	0.020292	0	0
SNW1	22938	broad.mit.edu	37	14	78184840	78184840	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:78184840C>T	ENST00000261531.7	-	13	1344	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.E266K|SNW1_ENST00000555761.1_Missense_Mutation_p.E428K	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	428					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	p.E428K(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTATAAATTTCATCTTCTCCA	0.363000													7	64					0	0	0.038147	0	0
DMXL2	23312	broad.mit.edu	37	15	51773566	51773566	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:51773566T>C	ENST00000251076.5	-	24	6024	c.5737A>G	c.(5737-5739)Aaa>Gaa	p.K1913E	DMXL2_ENST00000543779.2_Missense_Mutation_p.K1913E|DMXL2_ENST00000449909.3_Missense_Mutation_p.K1277E|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1913						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.K1913E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAGATGTTTTGGTTACTTTT	0.383000													98	69					0	0	0.048971	0	0
STAT1	6772	broad.mit.edu	37	2	191847151	191847151	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:191847151G>C	ENST00000361099.3	-	18	1927	c.1540C>G	c.(1540-1542)Ctc>Gtc	p.L514V	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L514V|STAT1_ENST00000392323.2_Missense_Mutation_p.L516V|STAT1_ENST00000392322.3_Missense_Mutation_p.L514V	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	514					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.L514V(1)		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)	TCCACATTGAGACCTCTTTTG	0.398000													34	100					0	0	0.069456	0	0
TAB1	10454	broad.mit.edu	37	22	39817833	39817833	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr22:39817833G>A	ENST00000216160.6	+	8	840	c.778G>A	c.(778-780)Gct>Act	p.A260T	TAB1_ENST00000331454.3_Splice_Site_p.A260T	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	260	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	p.A260T(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCCCCATAGCGCTGCCAAGTC	0.547000													8	34					0	0	0.058154	0	0
TNFSF8	944	broad.mit.edu	37	9	117692469	117692469	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:117692469A>C	ENST00000223795.2	-	1	228	c.115T>G	c.(115-117)Ttc>Gtc	p.F39V		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	39					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.F39V(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCAAATAGAAATAGCTGCGG	0.592000													6	65					0	0	0.029380	0	0
CSRNP2	81566	broad.mit.edu	37	12	51461550	51461550	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:51461550G>C	ENST00000228515.1	-	4	911	c.614C>G	c.(613-615)gCc>gGc	p.A205G		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	205					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A205G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CAGGCGGATGGCTCGAAGTTC	0.572000													5	61					0	0	0.021553	0	0
ZFP57	346171	broad.mit.edu	37	6	29640795	29640795	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:29640795G>C	ENST00000376883.1	-	6	1444	c.1033C>G	c.(1033-1035)Ctc>Gtc	p.L345V	ZFP57_ENST00000488757.1_Missense_Mutation_p.L365V|ZFP57_ENST00000376881.3_Missense_Mutation_p.L345V			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	281					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.L345V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TCCTGACAGAGGGTTCCAGTG	0.493000													124	88					0	0	0.048971	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050899	110050899	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:110050899G>C	ENST00000369864.4	-	2	985	c.636C>G	c.(634-636)atC>atG	p.I212M	AMIGO1_ENST00000369862.1_Missense_Mutation_p.I212M			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	212					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane		p.I212M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCCCATTCTTGATCCAGGCCG	0.532000													52	28					0	0	0.048971	0	0
DLG5	9231	broad.mit.edu	37	10	79576344	79576344	+	Silent	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:79576344G>T	ENST00000372391.2	-	20	3995	c.3990C>A	c.(3988-3990)gtC>gtA	p.V1330V	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.V990V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1330					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.V1330V(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACGCGGGGTTGACAGCGATTC	0.617000													5	71					0.000602214	0.000633673	0.014758	1	0
AOAH	313	broad.mit.edu	37	7	36633960	36633960	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:36633960A>C	ENST00000431169.1	-	12	1223	c.923T>G	c.(922-924)cTg>cGg	p.L308R	AOAH_ENST00000538464.1_Missense_Mutation_p.L30R|AOAH_ENST00000258749.5_Missense_Mutation_p.L308R|AOAH_ENST00000535891.1_Missense_Mutation_p.L276R	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	308					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.L308R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGTGGAGTCCAGAAATCCTGT	0.448000													4	86					0	0	0.009096	0	0
KNG1	3827	broad.mit.edu	37	3	186459867	186459867	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:186459867C>T	ENST00000265023.4	+	10	1894	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	561					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.S561F(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GTTACCTTTTCTGACTTTCAG	0.473000													8	103					0	0	0.038147	0	0
WDR24	84219	broad.mit.edu	37	16	735419	735419	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:735419G>C	ENST00000293883.4	-	7	2616	c.1857C>G	c.(1855-1857)gtC>gtG	p.V619V	WDR24_ENST00000248142.6_Silent_p.V749V	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	749								p.V749V(1)|p.V619V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCGCGTGTGAGACAGACAGGA	0.677000													5	40					0	0	0.014758	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694106	84694106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:84694106G>C	ENST00000286744.5	+	27	4798	c.4574G>C	c.(4573-4575)aGa>aCa	p.R1525T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1525T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1525	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R1525T(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGTCTCCAAGAGCATGTGCC	0.527000													3	23					0	0	0.004672	0	0
TM9SF4	9777	broad.mit.edu	37	20	30723942	30723942	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr20:30723942G>C	ENST00000217315.5	+	3	484	c.144G>C	c.(142-144)caG>caC	p.Q48H	TM9SF4_ENST00000398022.2_Missense_Mutation_p.Q65H			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	65						integral to membrane		p.Q48H(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTTCTGCCAGCCCAGCAAGA	0.488000													5	44					0	0	0.021553	0	0
SACS	26278	broad.mit.edu	37	13	23930096	23930096	+	Nonsense_Mutation	SNP	G	G	A	rs146784878		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr13:23930096G>A	ENST00000382298.3	-	8	1243	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	SACS_ENST00000382292.3_Nonsense_Mutation_p.Q219*|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	219					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.Q72*(1)|p.Q219*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAAGTGTTTGATGAGGATCT	0.378000													11	11					0	0	0.069234	0	0
FGA	2243	broad.mit.edu	37	4	155505643	155505643	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:155505643C>A	ENST00000302053.3	-	6	2312	c.2234G>T	c.(2233-2235)gGc>gTc	p.G745V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	745	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G745>?(1)|p.G745V(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCTCAGAGCCTACCCGGAA	0.527000													14	44					2.61681e-11	3.11806e-11	0.020292	1	0
SCN10A	6336	broad.mit.edu	37	3	38739807	38739807	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:38739807T>G	ENST00000449082.2	-	27	4903	c.4904A>C	c.(4903-4905)gAg>gCg	p.E1635A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1635					sensory perception	voltage-gated sodium channel complex		p.E1635A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATGCCAGCCTCCCACCTCAC	0.552000													5	171					0	0	0.014758	0	0
RTP3	83597	broad.mit.edu	37	3	46542298	46542298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:46542298G>A	ENST00000296142.3	+	2	1180	c.608G>A	c.(607-609)tGc>tAc	p.C203Y		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	203					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.C203Y(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCCTACGCATGCCAAAACCAC	0.458000													4	72					0	0	0.009096	0	0
C1orf158	93190	broad.mit.edu	37	1	12820737	12820737	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:12820737C>G	ENST00000288048.5	+	4	654	c.438C>G	c.(436-438)ctC>ctG	p.L146L	C1orf158_ENST00000376210.3_Silent_p.L108L	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	146								p.L146L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGCAGCTCAAGCAGAGAC	0.527000													12	57					0	0	0.093190	0	0
ADAM12	8038	broad.mit.edu	37	10	127737960	127737960	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr10:127737960G>C	ENST00000368679.4	-	16	2097	c.1788C>G	c.(1786-1788)acC>acG	p.T596T	ADAM12_ENST00000368676.4_Silent_p.T596T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	596	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.T596T(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AAACGGCATTGGTACCAATGA	0.532000													14	82					0	0	0.020292	0	0
EPS15	2060	broad.mit.edu	37	1	51934235	51934235	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:51934235G>C	ENST00000371733.3	-	5	315	c.219C>G	c.(217-219)ttC>ttG	p.F73L	EPS15_ENST00000371730.2_Missense_Mutation_p.F73L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	73	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.F73L(1)|p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AAGCAACAAAGAATTCCTAAG	0.368000			T	MLL	ALL								6	21					0	0	0.058154	0	0
VWA8	23078	broad.mit.edu	37	13	42259229	42259229	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr13:42259229C>A	ENST00000379310.3	-	35	4349	c.4281G>T	c.(4279-4281)agG>agT	p.R1427S		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.R1427S(1)									GGGGTAAAATCCTCACTACCT	0.398000													34	32					1.22384e-17	1.51369e-17	0.054565	1	0
COPS4	51138	broad.mit.edu	37	4	83989596	83989596	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:83989596A>T	ENST00000264389.2	+	9	1143	c.1008A>T	c.(1006-1008)gaA>gaT	p.E336D	COPS4_ENST00000511653.1_Missense_Mutation_p.E336D|COPS4_ENST00000503682.1_Missense_Mutation_p.E368D|COPS4_ENST00000509093.1_Intron	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	336	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding	p.E336D(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AATAGGCGGAAAAGATAGCAT	0.328000													13	52					0	0	0.020292	0	0
PILRA	29992	broad.mit.edu	37	7	99987517	99987517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:99987517C>T	ENST00000198536.2	+	3	673	c.461C>T	c.(460-462)aCg>aTg	p.T154M	PILRA_ENST00000453419.1_Intron|PILRA_ENST00000394000.2_Intron|PILRA_ENST00000350573.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	154					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.T154M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGCTGTCACGACCACCACC	0.612000													7	62					0	0	0.038147	0	0
CEP350	9857	broad.mit.edu	37	1	180012207	180012207	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:180012207G>T	ENST00000367607.3	+	20	4797	c.4379G>T	c.(4378-4380)aGa>aTa	p.R1460I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1460						centrosome|nucleus|spindle		p.R1460I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAGTTGACTAGAACTCATATC	0.453000													10	194					9.70103e-10	1.13357e-09	0.069234	1	0
PPP6R3	55291	broad.mit.edu	37	11	68370851	68370851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:68370851G>T	ENST00000393799.2	+	22	2608	c.2341G>T	c.(2341-2343)Gag>Tag	p.E781*	PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E775*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.E781*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E781*|PPP6R3_ENST00000534534.1_Nonsense_Mutation_p.E549*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E746*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E735*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E752*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E701*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E701*			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	781					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.E781*(1)|p.E701*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGACGGAGAGGAGGATGCAGA	0.542000													24	35					3.7963e-18	4.73698e-18	0.083992	1	0
FAM71A	149647	broad.mit.edu	37	1	212798782	212798782	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:212798782C>A	ENST00000294829.3	+	1	994	c.563C>A	c.(562-564)cCa>cAa	p.P188Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	188								p.P188Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGTGGCATTCCAGCTGAAGAC	0.532000													12	74					1.08611e-07	1.23501e-07	0.080935	1	0
PPP1R26	9858	broad.mit.edu	37	9	138379116	138379116	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr9:138379116C>T	ENST00000356818.2	+	4	3309	c.2760C>T	c.(2758-2760)ttC>ttT	p.F920F	PPP1R26_ENST00000604351.1_Silent_p.F920F|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.F920F|PPP1R26_ENST00000605660.1_Silent_p.F920F|PPP1R26_ENST00000605286.1_Silent_p.F920F	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	920						nucleolus	protein binding	p.F920F(1)									CTGGTCTGTTCAGCCAGGGCG	0.701000													27	68					0	0	0.099896	0	0
CCNB3	85417	broad.mit.edu	37	X	50094645	50094645	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:50094645G>T	ENST00000376042.1	+	13	4429	c.4131G>T	c.(4129-4131)atG>atT	p.M1377I	CCNB3_ENST00000348603.2_Missense_Mutation_p.M273I|CCNB3_ENST00000376038.1_Missense_Mutation_p.M273I|CCNB3_ENST00000276014.7_Missense_Mutation_p.M1377I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1377					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.M1377I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTGGATATGTTGAAGCTGG	0.473000													7	12					3.09899e-07	3.505e-07	0.047766	1	0
LAMA3	3909	broad.mit.edu	37	18	21474922	21474922	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr18:21474922A>T	ENST00000313654.9	+	44	5754	c.5513A>T	c.(5512-5514)gAg>gTg	p.E1838V	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1838V|LAMA3_ENST00000269217.6_Missense_Mutation_p.E229V|LAMA3_ENST00000587184.1_Missense_Mutation_p.E229V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1838	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E1838V(1)|p.E229V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCATGGGCGAGCAGCTCCGC	0.627000													3	25					0	0	0.009096	0	0
SCAMP5	192683	broad.mit.edu	37	15	75305046	75305046	+	Silent	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:75305046C>G	ENST00000361900.6	+	4	243	c.36C>G	c.(34-36)ccC>ccG	p.P12P	SCAMP5_ENST00000425597.3_Silent_p.P12P|SCAMP5_ENST00000545456.1_5'UTR|SCAMP5_ENST00000562212.1_Silent_p.P12P|SCAMP5_ENST00000565923.1_3'UTR	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	12					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	p.P12P(2)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CACCATTGCCCAAATTCATCC	0.512000													24	10					0	0	0.076483	0	0
LCE1C	353133	broad.mit.edu	37	1	152777745	152777745	+	Silent	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:152777745A>T	ENST00000368768.1	-	2	260	c.210T>A	c.(208-210)tcT>tcA	p.S70S	LCE1C_ENST00000607093.1_Silent_p.S70S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	70	Gly-rich.				keratinization			p.S70S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCTCCCCCAGAACTGCAGC	0.687000													12	142					0	0	0.093190	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740114	176740114	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:176740114T>A	ENST00000367662.3	+	17	5677	c.4513T>A	c.(4513-4515)Tgg>Agg	p.W1505R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1505	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.W1505R(1)		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						ACTGAGCCCATGGCTGACATG	0.458000													5	73					0	0	0.014758	0	0
EPS15	2060	broad.mit.edu	37	1	51929378	51929378	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:51929378G>A	ENST00000371733.3	-	7	564	c.468C>T	c.(466-468)ctC>ctT	p.L156L	EPS15_ENST00000371730.2_Silent_p.L156L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	156	EH 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)|p.L156L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACTTAGAGTTGAGCAACACTG	0.328000			T	MLL	ALL								5	40					0	0	0.014758	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	128					0	0	0.014758	0	0
VEPH1	79674	broad.mit.edu	37	3	156983384	156983384	+	Silent	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:156983384G>A	ENST00000362010.2	-	13	2503	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392833.2_Silent_p.F687F|VEPH1_ENST00000543418.1_Silent_p.F687F|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.F732F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	732	PH.					plasma membrane		p.F732F(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCTTTTGATGAACTTCCATC	0.383000													55	60					0	0	0.048971	0	0
AFP	174	broad.mit.edu	37	4	74320990	74320990	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:74320990G>T	ENST00000395792.2	+	14	1923	c.1823G>T	c.(1822-1824)gGa>gTa	p.G608V	AFP_ENST00000226359.2_Intron|AFP_ENST00000506820.1_3'UTR	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	608					transport		metal ion binding	p.G608V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTTTGGGAGTTTAAATT	0.313000									Alpha-Fetoprotein, Hereditary Persistence of				27	57					1.75199e-13	2.11137e-13	0.034045	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883968	105883968	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:105883968G>C	ENST00000393359.2	-	12	2881	c.2455C>G	c.(2455-2457)Cag>Gag	p.Q819E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Q819E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	819					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	p.Q819E(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGGCATATCTGACAAAGCTTT	0.433000													23	116					0	0	0.069288	0	0
ACE	1636	broad.mit.edu	37	17	61566424	61566424	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:61566424C>T	ENST00000577647.1	+	6	895	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	ACE_ENST00000490216.2_Missense_Mutation_p.R284W|ACE_ENST00000290863.6_Missense_Mutation_p.R284W|ACE_ENST00000290866.4_Missense_Mutation_p.R858W|ACE_ENST00000413513.3_Missense_Mutation_p.R284W|ACE_ENST00000421982.2_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R858W			P12821	ACE_HUMAN	angiotensin I converting enzyme	858	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.R284W(1)|p.R858W(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTACGTGCGCCGGGCCCTGCA	0.632000													3	39					0	0	0.004672	0	0
NSMAF	8439	broad.mit.edu	37	8	59503463	59503463	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:59503463G>A	ENST00000038176.3	-	24	2194	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	NSMAF_ENST00000427130.2_Missense_Mutation_p.S692L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	661					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.S692L(1)|p.S661L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TAGCATTTTTGATTCTTTAGA	0.289000													11	22					0	0	0.080935	0	0
TECPR2	9895	broad.mit.edu	37	14	102904406	102904406	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:102904406C>A	ENST00000359520.7	+	10	2668	c.2442C>A	c.(2440-2442)ctC>ctA	p.L814L	TECPR2_ENST00000558678.1_Silent_p.L814L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	814							protein binding	p.L814L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATGGCATCCTCAGCTTGGTGG	0.587000											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	143					2.17888e-05	2.38156e-05	0.058154	1	0
RAI14	26064	broad.mit.edu	37	5	34823943	34823943	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:34823943A>C	ENST00000265109.3	+	15	2283	c.1996A>C	c.(1996-1998)Aaa>Caa	p.K666Q	RAI14_ENST00000428746.2_Missense_Mutation_p.K666Q|RAI14_ENST00000506376.1_Missense_Mutation_p.K658Q|RAI14_ENST00000397449.1_Missense_Mutation_p.K659Q|RAI14_ENST00000515799.1_Missense_Mutation_p.K669Q|RAI14_ENST00000503673.1_Missense_Mutation_p.K666Q|RAI14_ENST00000512629.1_Missense_Mutation_p.K637Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	666						cell cortex|cytoskeleton	protein binding	p.K666Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAGGAAGAGGAAATCTCTAGA	0.448000													8	80					0	0	0.038147	0	0
HAS3	3038	broad.mit.edu	37	16	69147356	69147356	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:69147356G>C	ENST00000306560.1	+	3	805	c.649G>C	c.(649-651)Gac>Cac	p.D217H	HAS3_ENST00000569188.1_Missense_Mutation_p.D217H|HAS3_ENST00000219322.3_Missense_Mutation_p.D217H	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	217					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.D217H(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGCGACTCTGACACTGTGCT	0.612000											OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	59					0	0	0.034045	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517289	140517289	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:140517289C>G	ENST00000231134.5	+	1	2490	c.2273C>G	c.(2272-2274)tCa>tGa	p.S758*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		758					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S758*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGAGACTCAGGGGCCGGC	0.592000													24	108					0	0	0.076483	0	0
DIP2B	57609	broad.mit.edu	37	12	51138369	51138369	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:51138369G>T	ENST00000301180.5	+	38	4512		c.e38-1			NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)							nucleus	catalytic activity|transcription factor binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGAAATTTCAGTGCCGTGTTC	0.468000													42	42					5.2432e-18	6.52316e-18	0.048971	1	0
CCDC88B	283234	broad.mit.edu	37	11	64124602	64124602	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:64124602C>G	ENST00000359902.2	+	14	1931	c.1781C>G	c.(1780-1782)tCt>tGt	p.S594C	CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000463837.1_3'UTR			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1417					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGCAGCCTTCTCGGCACTGG	0.652000													29	30					0	0	0.034045	0	0
C6orf222	389384	broad.mit.edu	37	6	36291124	36291124	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:36291124T>C	ENST00000437635.2	-	8	1594	c.1417A>G	c.(1417-1419)Agc>Ggc	p.S473G		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	473								p.S473G(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGAAAGCTGGGCCTCTTG	0.622000													21	64					0	0	0.048971	0	0
AKAP10	11216	broad.mit.edu	37	17	19845219	19845219	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:19845219C>T	ENST00000225737.6	-	6	1138	c.981G>A	c.(979-981)agG>agA	p.R327R	AKAP10_ENST00000395536.3_Silent_p.R327R	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	327	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	p.R327R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CTCCACAAATCCTTGCTGCAA	0.373000													4	25					0	0	0.014758	0	0
MGA	23269	broad.mit.edu	37	15	42041126	42041126	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:42041126G>T	ENST00000219905.7	+	16	5684		c.e16+1		MGA_ENST00000389936.4_Splice_Site|MGA_ENST00000545763.1_Splice_Site|MGA_ENST00000566586.1_Splice_Site|MGA_ENST00000570161.1_Splice_Site	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein							MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CGGAACCCAGGTATAAAGTTC	0.403000													36	21					1.836e-18	2.29772e-18	0.064281	1	0
LCA5L	150082	broad.mit.edu	37	21	40794949	40794949	+	Silent	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr21:40794949A>G	ENST00000358268.2	-	5	1318	c.790T>C	c.(790-792)Tta>Cta	p.L264L	LCA5L_ENST00000380671.2_Silent_p.L264L|LCA5L_ENST00000485895.2_Silent_p.L264L|LCA5L_ENST00000288350.3_Silent_p.L264L			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	264								p.L264L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				ATAATAGATAATTTATGAGTG	0.373000													3	159					0	0	0.004672	0	0
KIF2C	11004	broad.mit.edu	37	1	45205650	45205650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:45205650G>A	ENST00000372224.4	+	1	159	c.46G>A	c.(46-48)Gct>Act	p.A16T	KIF2C_ENST00000372218.4_Missense_Mutation_p.A16T|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	16	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.A16T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCCCGGTCTCGCTATCAAGAT	0.567000													54	319					0	0	0.048971	0	0
FBXO21	23014	broad.mit.edu	37	12	117627039	117627039	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:117627039G>A	ENST00000427718.2	-	2	442	c.368C>T	c.(367-369)tCa>tTa	p.S123L	FBXO21_ENST00000330622.5_Missense_Mutation_p.S123L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	123					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.S123L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TACGTGCTCTGAAAAGAACCT	0.483000													7	77					0	0	0.029380	0	0
COL4A5	1287	broad.mit.edu	37	X	107850090	107850090	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:107850090G>A	ENST00000328300.6	+	29	2607	c.2363G>A	c.(2362-2364)cGc>cAc	p.R788H	COL4A5_ENST00000361603.2_Missense_Mutation_p.R788H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	788	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.R788H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCAGGACGCACTGGCTTA	0.517000									Alport syndrome with Diffuse Leiomyomatosis				19	17					0	0	0.049695	0	0
ATP2B2	491	broad.mit.edu	37	3	10417161	10417161	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:10417161C>G	ENST00000397077.1	-	10	1809	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	ATP2B2_ENST00000343816.4_Missense_Mutation_p.E443Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E457Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E457Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E412Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	457					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.E457Q(1)|p.E412Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGGAGCCCCTCGGGCACGGCG	0.622000													22	90					0	0	0.091800	0	0
GTF3C3	9330	broad.mit.edu	37	2	197641263	197641263	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:197641263A>G	ENST00000263956.3	-	11	1570	c.1481T>C	c.(1480-1482)aTt>aCt	p.I494T		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	494						transcription factor TFIIIC complex	DNA binding|protein binding	p.I494T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGAAAGTGAAATCCTTGCATC	0.473000													4	114					0	0	0.009096	0	0
FZD10	11211	broad.mit.edu	37	12	130648250	130648250	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:130648250C>G	ENST00000539839.1	+	1	1247	c.665C>G	c.(664-666)cCg>cGg	p.P222R	FZD10_ENST00000229030.4_Missense_Mutation_p.R255G	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R255G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGACCCGGCCCGCTTCCGCTA	0.647000													41	58					0	0	0.039052	0	0
TP53	7157	broad.mit.edu	37	17	7577107	7577107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr17:7577107A>T	ENST00000420246.2	-	8	963	c.831T>A	c.(829-831)tgT>tgA	p.C277*	TP53_ENST00000455263.2_Nonsense_Mutation_p.C277*|TP53_ENST00000269305.4_Nonsense_Mutation_p.C277*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C277*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C277*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCTCCCAGGACAGGCACAAA	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	14					0	0	0.028581	0	0
COQ5	84274	broad.mit.edu	37	12	120942706	120942706	+	Silent	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:120942706G>C	ENST00000288532.6	-	5	802	c.762C>G	c.(760-762)ctC>ctG	p.L254L	COQ5_ENST00000445328.2_Silent_p.L180L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	254					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	p.L254L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTGGATATGAGGGGATTGT	0.458000													8	35					0	0	0.047766	0	0
TAGLN	6876	broad.mit.edu	37	11	117073833	117073833	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr11:117073833T>C	ENST00000532870.1	+	1	1245	c.104T>C	c.(103-105)aTa>aCa	p.I35T	TAGLN_ENST00000392951.4_Missense_Mutation_p.I35T|TAGLN_ENST00000530649.1_Missense_Mutation_p.I35T			Q01995	TAGL_HUMAN	transgelin	35	CH.				muscle organ development	cytoplasm	actin binding	p.I35T(1)		central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	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;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GAGTGGATCATAGTGCAGTGT	0.612000													13	10					0	0	0.020292	0	0
VILL	50853	broad.mit.edu	37	3	38047993	38047993	+	Silent	SNP	C	C	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr3:38047993C>A	ENST00000283713.6	+	19	2525	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	VILL_ENST00000383759.2_Silent_p.A753A|VILL_ENST00000465644.1_Silent_p.A471A			O15195	VILL_HUMAN	villin-like	753					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.A753A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGCAGGTGCCGTGGCCCTGC	0.622000													63	69					5.19286e-32	6.63619e-32	0.048971	1	0
SAP130	79595	broad.mit.edu	37	2	128775266	128775266	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:128775266C>G	ENST00000357702.5	-	3	545	c.414G>C	c.(412-414)gaG>gaC	p.E138D	SAP130_ENST00000259234.6_Missense_Mutation_p.E112D|SAP130_ENST00000259235.3_Missense_Mutation_p.E138D	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	138	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.E138D(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCATAAGTCCCTCCGAAAATG	0.478000													20	27					0	0	0.069288	0	0
GPR32	2854	broad.mit.edu	37	19	51274695	51274695	+	Silent	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr19:51274695C>T	ENST00000270590.4	+	1	975	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	280						integral to plasma membrane	N-formyl peptide receptor activity	p.L280L(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTTGGTCCATCTGTGGCGACG	0.592000													81	25					0	0	0.048971	0	0
KDM5A	5927	broad.mit.edu	37	12	416853	416853	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:416853G>A	ENST00000399788.2	-	23	4059	c.3697C>T	c.(3697-3699)Ctt>Ttt	p.L1233F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L1233F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1233					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L1233F(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AACTTCTGAAGGGATACCAGG	0.527000			T	NUP98	AML								20	48					0	0	0.055883	0	0
GALC	2581	broad.mit.edu	37	14	88401080	88401080	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:88401080C>T	ENST00000261304.2	-	17	2160	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	GALC_ENST00000393569.2_Missense_Mutation_p.R659H|GALC_ENST00000544807.2_Intron|GALC_ENST00000393568.4_Missense_Mutation_p.R662H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	685					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.R685H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAAGTATTAGCGTGTGGCTTC	0.403000													6	78					0	0	0.029380	0	0
SLC12A4	6560	broad.mit.edu	37	16	67985834	67985834	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr16:67985834A>G	ENST00000422611.2	-	7	1069	c.1030T>C	c.(1030-1032)Ttc>Ctc	p.F344L	SLC12A4_ENST00000541864.2_Missense_Mutation_p.F311L|SLC12A4_ENST00000537830.2_Missense_Mutation_p.F336L|SLC12A4_ENST00000338335.3_Missense_Mutation_p.F342L|SLC12A4_ENST00000316341.3_Missense_Mutation_p.F342L|SLC12A4_ENST00000576616.1_Missense_Mutation_p.F342L|SLC12A4_ENST00000572037.1_Missense_Mutation_p.F294L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	342					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	p.F342L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTGGCAGAAGAAACTCCAT	0.577000													7	57					0	0	0.038147	0	0
TTN	7273	broad.mit.edu	37	2	179431334	179431334	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:179431334C>G	ENST00000589042.1	-	326	79749	c.79525G>C	c.(79525-79527)Ggt>Cgt	p.G26509R	TTN_ENST00000359218.5_Missense_Mutation_p.G17569R|TTN_ENST00000342992.6_Missense_Mutation_p.G23941R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G17636R|TTN_ENST00000591111.1_Missense_Mutation_p.G24868R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G17444R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24868							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G17569R(1)|p.G17636R(1)|p.G17444R(1)|p.G23941R(1)|p.G23939R(1)		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)			ATGGGTTTACCCCAGGCAAGT	0.423000													24	206					0	0	0.083992	0	0
DHX9	1660	broad.mit.edu	37	1	182823164	182823164	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:182823164G>A	ENST00000367549.3	+	6	587		c.e6-1			NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9						CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGATTCTACAGACTCTAGAAT	0.328000													5	144					0	0	0.021553	0	0
MDN1	23195	broad.mit.edu	37	6	90354787	90354787	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:90354787G>A	ENST00000369393.3	-	101	16664	c.16549C>T	c.(16549-16551)Cgg>Tgg	p.R5517W	MDN1_ENST00000428876.1_Missense_Mutation_p.R5517W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5517	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.R5517W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGCATTCCGGGCAGCCTGA	0.483000													6	48					0	0	0.021553	0	0
FBXO21	23014	broad.mit.edu	37	12	117627036	117627036	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:117627036T>A	ENST00000427718.2	-	2	445	c.371A>T	c.(370-372)gAg>gTg	p.E124V	FBXO21_ENST00000330622.5_Missense_Mutation_p.E124V	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	124					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.E124V(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCTTACGTGCTCTGAAAAGAA	0.478000													6	79					0	0	0.021553	0	0
MYO1A	4640	broad.mit.edu	37	12	57423361	57423361	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr12:57423361C>T	ENST00000442789.2	-	27	3022	c.2735G>A	c.(2734-2736)cGg>cAg	p.R912Q	MYO1A_ENST00000544473.1_Missense_Mutation_p.R750Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R912Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	912					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R912Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAGGAGAATCCGAGAAGAAGT	0.552000													6	62					0	0	0.021553	0	0
MIR320A	407037	broad.mit.edu	37	8	22102534	22102534	+	RNA	SNP	G	G	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:22102534G>A	ENST00000385302.1	-	0	22					NR_029714.1																						GAACCGGGAAGAGAAGGCGGA	0.652000													32	67					0	0	0.059317	0	0
MOSPD1	56180	broad.mit.edu	37	X	134033531	134033531	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chrX:134033531G>C	ENST00000370783.3	-	0	119				MOSPD1_ENST00000491609.1_5'UTR|MOSPD1_ENST00000370777.1_De_novo_Start_OutOfFrame|MOSPD1_ENST00000370779.4_De_novo_Start_OutOfFrame	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ACTTTTCTTAGATTCAGTTAA	0.363000													12	10					0	0	0.093190	0	0
HMCN1	83872	broad.mit.edu	37	1	186023082	186023082	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr1:186023082delG	ENST00000271588.4	+	44	7055	c.6826delG	c.(6826-6828)gggfs	p.G2276fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.G2276fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2276	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGTTGCTGGGACTGCAAA	0.398													11	93	---	---	---	---					
KANSL3	55683	broad.mit.edu	37	2	97275285	97275287	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:97275285_97275287delTTT	ENST00000599854.1	-	12	1538_1540	c.1071_1073delAAA	c.(1069-1074)gcaaag>gcg	p.K360del	KANSL3_ENST00000431828.1_In_Frame_Del_p.K447del|KANSL3_ENST00000440133.1_In_Frame_Del_p.K241del|KANSL3_ENST00000441706.2_In_Frame_Del_p.K360del|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	447																	TGATTTCTTCTTTGCTTTGCTTA	0.384													9	322	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227660807	227660808	+	In_Frame_Ins	INS	-	-	GCT			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr2:227660807_227660808insGCT	ENST00000305123.5	-	1	3667_3668	c.2647_2648insAGC	c.(2647-2649)ccc>cAGCcc	p.882_883insQ		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCAGCAAGGgctgctgctgc	0.624													13	38	---	---	---	---					
TACC3	10460	broad.mit.edu	37	4	1746465	1746472	+	Frame_Shift_Del	DEL	GGAGCAAG	GGAGCAAG	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:1746465_1746472delGGAGCAAG	ENST00000313288.4	+	15	2463_2470	c.2357_2364delGGAGCAAG	c.(2356-2364)cggagcaagfs	p.RSK786fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	786						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCCAGGTCCGGAGCAAGGCCCAGGCGG	0.673													7	28	---	---	---	---					
THAP9	79725	broad.mit.edu	37	4	83839377	83839377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr4:83839377delT	ENST00000302236.5	+	5	2063	c.2012delT	c.(2011-2013)cttfs	p.L671fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	671							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GACTTGGCGCTTTGGACAGTT	0.393													13	105	---	---	---	---					
HCN1	348980	broad.mit.edu	37	5	45353214	45353223	+	Frame_Shift_Del	DEL	ATCATTGAGT	ATCATTGAGT	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:45353214_45353223delATCATTGAGT	ENST00000303230.4	-	5	1413_1422	c.1356_1365delACTCAATGAT	c.(1354-1365)gaactcaatgatfs	p.ELND452fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	452						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCTCAGAGGATCATTGAGTTCATTGAGAA	0.348													7	84	---	---	---	---					
SH3PXD2B	285590	broad.mit.edu	37	5	171765673	171765674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr5:171765673_171765674insA	ENST00000311601.5	-	13	2605_2606	c.2435_2436insT	c.(2434-2436)ttgfs	p.L812fs	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	812					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.L812L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGGCCCCCCAAAGAGTTGGA	0.609													17	15	---	---	---	---					
SGK1	6446	broad.mit.edu	37	6	134498867	134498879	+	Frame_Shift_Del	DEL	GATTACTTCTGGA	GATTACTTCTGGA	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr6:134498867_134498879delGATTACTTCTGGA	ENST00000528577.1	-	1	164_176	c.82_94delTCCAGAAGTAATC	c.(82-96)tccagaagtaatcccfs	p.SRSNP28fs	SGK1_ENST00000367858.5_Intron	NM_001143677.1	NP_001137149.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.P32S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCAGGTTGGGGATTACTTCTGGAGGCTGGAGGT	0.484													8	35	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24849496	24849503	+	Frame_Shift_Del	DEL	CCGATGAA	CCGATGAA	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr7:24849496_24849503delCCGATGAA	ENST00000313367.2	-	20	2691_2698	c.2240_2247delTTCATCGG	c.(2239-2247)gttcatcggfs	p.VHR747fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.VHR680fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.VHR680fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.VHR711fs|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.VHR711fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.VHR716fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.VHR716fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	747					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCAAACAGCCGATGAACCGCTTTTCC	0.500													68	160	---	---	---	---					
RAD54B	25788	broad.mit.edu	37	8	95392597	95392609	+	Frame_Shift_Del	DEL	TGTTCAAGGTTTG	TGTTCAAGGTTTG	-	rs76782918		TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr8:95392597_95392609delTGTTCAAGGTTTG	ENST00000336148.5	-	12	2135_2147	c.2011_2023delCAAACCTTGAACA	c.(2011-2025)caaaccttgaacattfs	p.QTLNI671fs		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	24					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TCTTGTAAAATGTTCAAGGTTTGTGTATAGTTG	0.347								Direct reversal of damage;Homologous recombination					11	56	---	---	---	---					
FAM181A	90050	broad.mit.edu	37	14	94391663	94391664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr14:94391663_94391664insA	ENST00000267594.5	+	2	353_354	c.46_47insA	c.(46-48)gccfs	p.A16fs	FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	16										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAATGATGCAGCCCCCACAAAT	0.530													12	35	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23326487	23326487	+	RNA	DEL	A	A	-			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:23326487delA	ENST00000560464.1	-	0	1885																											ATTTCTCATCAAATGTTACCT	0.418													22	35	---	---	---	---					
CCPG1	9236	broad.mit.edu	37	15	55652875	55652876	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20N-01A-11D-A14W-08	TCGA-BT-A20N-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	341bbffe-7587-4ad0-b3b4-68e64080e216	e6ea3eed-7b54-4b01-bc07-ce26cb941982	g.chr15:55652875_55652876insT	ENST00000310958.6	-	8	1393_1394	c.1095_1096insA	c.(1093-1098)aaacacfs	p.H366fs	CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Frame_Shift_Ins_p.H366fs|CCPG1_ENST00000569205.1_Frame_Shift_Ins_p.H366fs|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	366					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGAAAGCTGTGTTTTTTCTGCT	0.386													23	100	---	---	---	---