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
FRMD7	90167	broad.mit.edu	37	X	131219961	131219961	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:131219961G>A	ENST00000298542.4	-	6	659	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	162	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.H162Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGATGAAAGTGCATG	0.443000													73	88					0	0	0.870114	0	0
KCNT1	57582	broad.mit.edu	37	9	138651633	138651633	+	Silent	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:138651633G>A	ENST00000298480.5	+	11	1037	c.963G>A	c.(961-963)acG>acA	p.T321T	KCNT1_ENST00000263604.3_Silent_p.T302T|KCNT1_ENST00000371757.2_Silent_p.T321T|KCNT1_ENST00000491806.2_Silent_p.T288T|KCNT1_ENST00000490355.2_Silent_p.T302T|KCNT1_ENST00000488444.2_Silent_p.T302T|KCNT1_ENST00000487664.1_Silent_p.T276T|KCNT1_ENST00000486577.2_Silent_p.T282T			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	321						membrane	binding|calcium-activated potassium channel activity	p.T321T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTGACGTCACGCCCAAGATCT	0.642000													26	63					0	0	0.681144	0	0
TRAV18	0	broad.mit.edu	37	14	22471681	22471681	+	RNA	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:22471681G>A	ENST00000390446.3	+	0	209																											CTCCCTGAGAGGGCAGCTCTG	0.453000													9	134					0	0	0.335167	0	0
ZAN	7455	broad.mit.edu	37	7	100348486	100348486	+	RNA	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:100348486C>A	ENST00000542585.1	+	0	1636				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.V496V(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACACCTCCGTCACCGTCCCCT	0.642000													7	41					0.00307968	0.00355348	0.278610	1	0
C12orf63	0	broad.mit.edu	37	12	97137249	97137249	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:97137249C>T	ENST00000524981.3	+	20	2642	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M				Q6ZTY8	CL063_HUMAN		855								p.T855M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCAGGGGACACGGAACTGCAG	0.413000													10	106					0	0	0.335167	0	0
OTUD4	54726	broad.mit.edu	37	4	146058804	146058804	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr4:146058804C>A	ENST00000454497.2	-	21	3065	c.2928G>T	c.(2926-2928)caG>caT	p.Q976H	OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1040							protein binding	p.Q976H(1)|p.Q975H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GATTATAGAACTGCTTGGATC	0.413000													47	384					6.1207e-33	7.65087e-33	0.864702	1	0
NFYC	4802	broad.mit.edu	37	1	41218877	41218877	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:41218877G>A	ENST00000372652.1	+	5	614	c.346G>A	c.(346-348)Gat>Aat	p.D116N	NFYC_ENST00000372654.1_Missense_Mutation_p.D116N|NFYC_ENST00000427410.2_Missense_Mutation_p.D78N|NFYC_ENST00000308733.5_Missense_Mutation_p.D116N|NFYC_ENST00000372653.1_Missense_Mutation_p.D116N|NFYC_ENST00000447388.3_Missense_Mutation_p.D116N|NFYC_ENST00000425457.2_Missense_Mutation_p.D116N|NFYC_ENST00000456393.2_Missense_Mutation_p.D116N|NFYC_ENST00000372651.1_Missense_Mutation_p.D116N|NFYC_ENST00000440226.3_Missense_Mutation_p.D116N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	116					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D116N(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			TTTTCTCATCGATATTGTTCC	0.423000													19	69					0	0	0.539581	0	0
SYNE1	23345	broad.mit.edu	37	6	152558076	152558076	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr6:152558076G>A	ENST00000367255.5	-	109	20676	c.20075C>T	c.(20074-20076)tCc>tTc	p.S6692F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6692					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S6692F(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAGATGGGACCACGTCTA	0.522000										HNSCC(10;0.0054)			6	70					0	0	0.248553	0	0
EPHB1	2047	broad.mit.edu	37	3	134911533	134911533	+	Silent	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:134911533G>C	ENST00000398015.3	+	11	2368	c.1998G>C	c.(1996-1998)ctG>ctC	p.L666L	EPHB1_ENST00000493838.1_Silent_p.L227L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	666	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGGACTTTCTGAGTGAGGCGA	0.547000													4	49					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179604912	179604912	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179604912C>G	ENST00000589042.1	-	48	13272	c.13048G>C	c.(13048-13050)Gtg>Ctg	p.V4350L	TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4033	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V4112L(1)|p.V3987L(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)			GGGGGCATCACCACGTTGTCA	0.458000													16	137					0	0	0.479597	0	0
CARS2	79587	broad.mit.edu	37	13	111294811	111294811	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr13:111294811G>A	ENST00000257347.4	-	14	1537	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	492					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	p.R492W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGCCGGAACCGCACCAGCTCG	0.672000													3	16					0	0	0.115264	0	0
ANKRD12	23253	broad.mit.edu	37	18	9221994	9221994	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:9221994A>G	ENST00000383440.2	+	7	1128	c.871A>G	c.(871-873)Aca>Gca	p.T291A	ANKRD12_ENST00000262126.3_Missense_Mutation_p.T314A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	314						nucleus		p.T314A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAAAGTTACACAGGTTTGTT	0.348000													10	113					0	0	0.387290	0	0
CHSY1	22856	broad.mit.edu	37	15	101718218	101718218	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr15:101718218G>T	ENST00000254190.3	-	3	2259	c.1784C>A	c.(1783-1785)cCt>cAt	p.P595H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	595					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGGCTTTAGGGTACTTAAT	0.458000													4	104					0.150653	0.164349	0.150653	1	0
SLC4A9	83697	broad.mit.edu	37	5	139744179	139744179	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:139744179C>T	ENST00000230993.6	+	11	1727	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	SLC4A9_ENST00000507527.1_Silent_p.Y564Y|SLC4A9_ENST00000506545.1_Silent_p.Y540Y|SLC4A9_ENST00000432095.2_Silent_p.Y529Y|SLC4A9_ENST00000506757.2_Silent_p.Y540Y	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	564	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.Y564Y(2)|p.Y538Y(1)|p.Y540Y(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGCCTACGGGTGCCTCT	0.562000													5	15					0	0	0.217242	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474292	99474292	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:99474292C>T	ENST00000316368.2	-	1	388	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCAACATAGCGGTCATAGGA	0.488000													30	82					0	0	0.706142	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874843	80874843	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874843T>A	ENST00000466387.1	+	22	3288	c.2564T>A	c.(2563-2565)gTt>gAt	p.V855D	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACTCACCTGTTGTGTCTTGG	0.473000													6	276					0	0	0.217242	0	0
CENPI	2491	broad.mit.edu	37	X	100364926	100364926	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:100364926G>A	ENST00000372927.1	+	5	807	c.530G>A	c.(529-531)cGt>cAt	p.R177H	CENPI_ENST00000218507.5_Missense_Mutation_p.R177H|CENPI_ENST00000423383.1_Missense_Mutation_p.R177H|CENPI_ENST00000372926.1_Missense_Mutation_p.R177H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	177					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.R177H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTCATTGATCGTAAGGAGCAA	0.338000													33	26					0	0	0.779181	0	0
TCEB3	6924	broad.mit.edu	37	1	24083516	24083516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:24083516G>T	ENST00000418390.2	+	10	2507	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	746					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCCAGCCCTGAGGAGCCGGC	0.577000													11	205					1.3612e-06	1.60142e-06	0.479597	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													4	105					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179406214	179406214	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179406214T>A	ENST00000589042.1	-	350	97814	c.97590A>T	c.(97588-97590)caA>caT	p.Q32530H	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30889	Ig-like 143.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(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)			ATCCAGTCACTTGGGAGCCAC	0.498000													11	30					0	0	0.411799	0	0
LCT	3938	broad.mit.edu	37	2	136567431	136567431	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:136567431C>A	ENST00000264162.2	-	8	2496	c.2486G>T	c.(2485-2487)aGg>aTg	p.R829M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	829	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGGAGTCCTTGACTTGCT	0.493000													5	302					0.184627	0.194345	0.184627	1	0
DOPEY2	9980	broad.mit.edu	37	21	37586800	37586800	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:37586800G>A	ENST00000399151.3	+	9	1160	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	359					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.A359T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGCCATCATGCATACCTGAA	0.393000													9	70					0	0	0.335167	0	0
SIX1	6495	broad.mit.edu	37	14	61115426	61115426	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:61115426G>C	ENST00000247182.6	-	1	754	c.482C>G	c.(481-483)aCc>aGc	p.T161S	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	161					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GGTGAGGCCGGTGGCCTCGGC	0.647000													6	78					0	0	0.217242	0	0
MOCOS	55034	broad.mit.edu	37	18	33836994	33836994	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:33836994A>T	ENST00000261326.5	+	12	2249	c.2228A>T	c.(2227-2229)aAc>aTc	p.N743I	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	743	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.N743I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CTGCTGATCAACACATCCAGT	0.453000													57	179					0	0	0.870114	0	0
KIF26B	55083	broad.mit.edu	37	1	245849237	245849237	+	Silent	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:245849237C>A	ENST00000366518.4	+	9	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	KIF26B_ENST00000407071.2_Silent_p.S984S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622000													4	25					0.150653	0.164349	0.150653	1	0
COL6A1	1291	broad.mit.edu	37	21	47421898	47421898	+	Silent	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:47421898G>A	ENST00000361866.3	+	31	2094	c.1980G>A	c.(1978-1980)gcG>gcA	p.A660A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	660	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.A660A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGTCGTACGCGGGTGTGGTGC	0.652000													5	19					0	0	0.217242	0	0
WNK3	65267	broad.mit.edu	37	X	54359994	54359994	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:54359994C>T	ENST00000354646.2	-	2	551	c.113G>A	c.(112-114)aGa>aAa	p.R38K	WNK3_ENST00000375169.3_Missense_Mutation_p.R38K|WNK3_ENST00000375159.2_Missense_Mutation_p.R38K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	38					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.R38K(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTCCTTTAGTCTAGCTTCTAC	0.428000													8	125					0	0	0.335167	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	103					0	0	0.184627	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814510	106814510	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr8:106814510C>T	ENST00000407775.2	+	8	2450	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	734					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACCATGCGCACACGCAA	0.507000													4	63					0	0	0.184627	0	0
ADAM23	8745	broad.mit.edu	37	2	207425911	207425911	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:207425911G>A	ENST00000264377.3	+	12	1557	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	ADAM23_ENST00000374415.3_Missense_Mutation_p.R410H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R410H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	410	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R410H(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTCTGTTCTCGCACAAGAGGA	0.413000													25	65					0	0	0.654019	0	0
GJB4	127534	broad.mit.edu	37	1	35227163	35227163	+	Missense_Mutation	SNP	G	G	A	rs148723189	by1000genomes	TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:35227163G>A	ENST00000339480.1	+	2	678	c.308G>A	c.(307-309)cGc>cAc	p.R103H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	103			R -> C (may be associated with deafness; dbSNP:rs9426009).		cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GAACGCGAGCGCAAGCACCAC	0.647000													4	72					0	0	0.184627	0	0
LSP1	4046	broad.mit.edu	37	11	1904667	1904667	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:1904667C>T	ENST00000406638.2	+	4	1491	c.189C>T	c.(187-189)taC>taT	p.Y63Y	LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.Y253Y|LSP1_ENST00000405957.2_Silent_p.Y63Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587000													19	70					0	0	0.575678	0	0
TSPAN9	10867	broad.mit.edu	37	12	3390977	3390977	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:3390977C>T	ENST00000011898.5	+	8	803	c.642C>T	c.(640-642)atC>atT	p.I214I	TSPAN9_ENST00000407263.1_Silent_p.I214I|TSPAN9_ENST00000537971.1_Silent_p.I214I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	214						integral to plasma membrane|membrane fraction		p.I214I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCATCCTCATCATGCAGGTAA	0.587000													16	24					0	0	0.520397	0	0
CTSC	1075	broad.mit.edu	37	11	88068245	88068245	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:88068245G>C	ENST00000524463.1	-	2	266	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	CTSC_ENST00000227266.5_Missense_Mutation_p.Q60E|CTSC_ENST00000529974.1_Missense_Mutation_p.Q60E|CTSC_ENST00000393301.4_5'UTR	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN	cathepsin C	60					immune response	lysosome	cysteine-type endopeptidase activity	p.Q60E(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTTTTCTTGTGGTCCTAAA	0.353000													10	81					0	0	0.361761	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062020	41062020	+	Silent	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:41062020G>A	ENST00000352632.3	+	25	5201	c.5115G>A	c.(5113-5115)gtG>gtA	p.V1705V	SPTBN4_ENST00000338932.3_Silent_p.V1705V|SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V|SPTBN4_ENST00000595535.1_Silent_p.V1705V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1705					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.V1705V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTCAGGTGGACCGCCTGT	0.662000													6	53					0	0	0.248553	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874842	80874842	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874842G>C	ENST00000466387.1	+	22	3287	c.2563G>C	c.(2563-2565)Gtt>Ctt	p.V855L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAACTCACCTGTTGTGTCTTG	0.473000													6	277					0	0	0.217242	0	0
SIRPA	140885	broad.mit.edu	37	20	1902292	1902292	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr20:1902292G>A	ENST00000358771.4	+	3	840	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	230	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATCTGCGAGGTGGCCCACGT	0.612000													4	95					0	0	0.150653	0	0
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617000													5	100					0	0	0.217242	0	0
MPP2	4355	broad.mit.edu	37	17	41956753	41956753	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr17:41956753T>C	ENST00000269095.4	-	12	1676	c.1372A>G	c.(1372-1374)Acg>Gcg	p.T458A	MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A|MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	482	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AACTCGGCCGTTCGTAGCACC	0.572000													7	123					0	0	0.307466	0	0
BDP1	55814	broad.mit.edu	37	5	70751835	70751835	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:70751835C>A	ENST00000358731.4	+	1	394	c.131C>A	c.(130-132)gCt>gAt	p.A44D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	44	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACGGACTCTGCTTCCAAGCCC	0.642000													5	48					0.184627	0.194345	0.184627	1	0
CENPP	401541	broad.mit.edu	37	9	95108042	95108042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:95108042G>T	ENST00000375587.3	+	4	955	c.440G>T	c.(439-441)tGc>tTc	p.C147F		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	147					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.C147F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CCCACAGAATGCTCAGAATTA	0.289000													16	56					0.006122	0.00693057	0.539581	1	0
PSMD6	9861	broad.mit.edu	37	3	63996409	63996409	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:63996409T>G	ENST00000492933.1	-	9	1316	c.1264A>C	c.(1264-1266)Act>Cct	p.T422P	PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6-AS2_ENST00000472046.1_RNA|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	proteasome complex	ATPase activity|protein binding	p.T369P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTCTTGATAGTTTCTTGGTAC	0.318000													12	84					0	0	0.435327	0	0
DNM1P47	0	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													4	8					0	0	0.335167	0	0
DLEC1	9940	broad.mit.edu	37	3	38135139	38135139	+	Silent	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:38135139T>C	ENST00000308059.6	+	12	1821	c.1800T>C	c.(1798-1800)ggT>ggC	p.G600G	DLEC1_ENST00000346219.3_Silent_p.G600G|DLEC1_ENST00000452631.2_Silent_p.G600G			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	600					negative regulation of cell proliferation	cytoplasm		p.G600G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATATTTCTGGTGAAAAAAGCC	0.493000													28	93					0	0	0.693898	0	0
SCN7A	6332	broad.mit.edu	37	2	167262940	167262940	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:167262940T>C	ENST00000409855.1	-	25	4325	c.4199A>G	c.(4198-4200)tAt>tGt	p.Y1400C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1400					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Y1400C(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGCAAAATTATACATTCCAAA	0.353000													22	151					0	0	0.608945	0	0
HDAC11	79885	broad.mit.edu	37	3	13542247	13542247	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:13542247C>T	ENST00000433119.1	+	5	795	c.320C>T	c.(319-321)gCg>gTg	p.A107V	HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000495099.2_Intron			Q96DB2	HDA11_HUMAN	histone deacetylase 11	0	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.G149G(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGACCGTGGCGGGGGCTTCT	0.647000											OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7					0	0	0.150653	0	0
SYNE2	23224	broad.mit.edu	37	14	64580250	64580250	+	Silent	SNP	C	C	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:64580250C>T	ENST00000357395.3	+	67	13100	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	SYNE2_ENST00000554584.1_Silent_p.D4282D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000344113.4_Silent_p.D4267D			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4267					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.D4267D(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAACGCAGACATGCAGCAGG	0.557000													11	19					0	0	0.361761	0	0
CCDC105	126402	broad.mit.edu	37	19	15132676	15132676	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:15132676G>A	ENST00000292574.3	+	6	1278	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	399					microtubule cytoskeleton organization	microtubule		p.R399H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCCTGGTTCGCATGTACCAG	0.642000													35	88					0	0	0.769981	0	0
TMEM167B	56900	broad.mit.edu	37	1	109637041	109637041	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:109637041G>T	ENST00000338272.7	+	3	283	c.145G>T	c.(145-147)Gct>Tct	p.A49S		NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	49						Golgi membrane|integral to membrane		p.A49S(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						CCTGCTAGCCGCTGTGATTGG	0.448000													16	114					9.16793e-09	1.1226e-08	0.520397	1	0
CSMD2	114784	broad.mit.edu	37	1	34102104	34102104	+	Translation_Start_Site	SNP	G	G	A			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:34102104G>A	ENST00000373388.2	-	0	1664				CSMD2_ENST00000373381.4_Missense_Mutation_p.R1609W|CSMD2_ENST00000373380.1_Missense_Mutation_p.R482W			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding	p.R1569W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCCCACCCGTGTGCCGTTC	0.582000													8	80					0	0	0.307466	0	0
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													6	7	---	---	---	---					
HEXB	3074	broad.mit.edu	37	5	74016258	74016259	+	In_Frame_Ins	INS	-	-	AGA			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:74016258_74016259insAGA	ENST00000511181.1	+	12	1660_1661	c.748_749insAGA	c.(748-750)gaa>AGAgaa	p.249_250insR	HEXB_ENST00000261416.7_In_Frame_Ins_p.474_475insR|HEXB_ENST00000509579.1_5'UTR|HEXB_ENST00000513539.1_3'UTR			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	474					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTTAGGTACTCAGAAACAGAAA	0.361													20	74	---	---	---	---					
HLA-V	0	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													3	6	---	---	---	---					
OVCH2	341277	broad.mit.edu	37	11	7720159	7720160	+	RNA	INS	-	-	T	rs71470493	by1000genomes	TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:7720159_7720160insT	ENST00000454689.1	-	0	925				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GGCATAATGGCTGTAGGTGCTC	0.475													5	6	---	---	---	---					
RP11-726G1.1	0	broad.mit.edu	37	12	9725801	9725801	+	RNA	DEL	T	T	-			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:9725801delT	ENST00000520314.1	+	0	6372																											AGAATTCTTCTTCAACATTCA	0.323													2	4	---	---	---	---					
LINC00669	0	broad.mit.edu	37	18	37091893	37091895	+	RNA	DEL	AAG	AAG	-			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:37091893_37091895delAAG	ENST00000591629.1	-	0	440					NR_024391.1																						gaagaggaacaagaagaagaaga	0.473													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11042391	11042393	+	RNA	DEL	CAA	CAA	-	rs76695243		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:11042391_11042393delCAA	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		acacacaccccaaaaaaaaaaaa	0.419													3	3	---	---	---	---					
