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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
NIN	51199	broad.mit.edu	hg19	14	51243678	51243678	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:51243678C>T	ENST00000245441.5	-	7	845	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	NIN_ENST00000389868.3_Missense_Mutation_p.V219M|NIN_ENST00000324330.9_Missense_Mutation_p.V219M|NIN_ENST00000382043.4_Missense_Mutation_p.V219M|NIN_ENST00000530997.2_Missense_Mutation_p.V219M|NIN_ENST00000382041.3_Missense_Mutation_p.V219M|NIN_ENST00000453196.1_Missense_Mutation_p.V219M	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	219	EF-hand 4.	centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	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)				TCTCCATCCACATTCTGTAAA	0.463	0	112.0	103.0	106.0	14	51243678	2203	4300	6503	SO:0001583	missense	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503	"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684			11004522, 11162463	Standard	NM_020921	Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000530997.2:c.655G>A	14.37:g.51243678C>T	ENSP00000436092:p.Val219Met	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	ENST00000530997.2	37		.	.	.	.	.	.	.	.	.	.	C	10.95	1.496083	0.26774	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;2.94	5.76	2.63	0.31362	EF-hand-like domain (1);	0.820569	0.11182	N	0.590829	T	0.38241	0.1033	N	0.19112	0.55	0.09310	N	1	P;P;D;P;P	0.57257	0.944;0.953;0.979;0.664;0.928	P;P;D;B;P	0.63877	0.757;0.812;0.919;0.22;0.79	T	0.16719	-1.0393	10	0.66056	D	0.02	-2.8812	5.2241	0.15385	0.1291:0.5465:0.0:0.3244	.	225;219;219;219;219	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	M	219;219;219;219;225;219;219;219;181	ENSP00000245441:V219M;ENSP00000374518:V219M;ENSP00000371474:V219M;ENSP00000371472:V219M;ENSP00000324210:V219M;ENSP00000412391:V219M;ENSP00000398641:V181M	ENSP00000245441:V219M	V	-	1	0	NIN	50313428	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-0.169000	0.09911	0.289000	0.22422	-0.150000	0.13652	GTG	NIN-017	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395210.2		135.353575	0	-7	99	0	0	1	0	NM_182946	45	136.077150	64	0.412844
PCCA	5095	broad.mit.edu	hg19	13	101020822	101020822	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:101020822G>A	ENST00000376285.1	+	19	1778	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PCCA_ENST00000376279.3_Silent_p.V580V|PCCA_ENST00000376286.4_Silent_p.V554V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	580		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				ATGGGTCAGTGTTCTCGGTGA	0.358	0	151.0	139.0	143.0	13	101020822	2203	4300	6503	SO:0001819	synonymous_variant	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""		1427880	Standard	NM_000282	Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1740G>A	13.37:g.101020822G>A		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409045	0.01155	.	.	ENSG00000175198	ENST00000458283;ENST00000413170	T;T	0.80214	-1.35;-1.35	4.77	-8.06	0.01102	.	0.721442	0.13129	N	0.411609	T	0.69700	0.3140	.	.	.	0.41553	D	0.988585	.	.	.	.	.	.	T	0.62224	-0.6899	7	0.34782	T	0.22	.	2.9267	0.05786	0.4481:0.1119:0.3308:0.1092	.	.	.	.	I	33;24	ENSP00000390850:V33I;ENSP00000411194:V24I	ENSP00000411194:V24I	V	+	1	0	PCCA	99818823	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.532000	0.02217	-1.733000	0.01357	-1.010000	0.02471	GTT	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		110.290766	0	-9	44	0	0	1	0		36	110.425881	43	0.455696
TTN	7273	broad.mit.edu	hg19	2	179437657	179437657	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:179437657G>A	ENST00000589042.1	-	326	73426	c.73202C>T	c.(73201-73203)gCc>gTc	p.A24401V	TTN_ENST00000460472.2_Missense_Mutation_p.A15336V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15461V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15528V|TTN_ENST00000591111.1_Missense_Mutation_p.A22760V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21833V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22760	Fibronectin type-III 77.			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GGAATTCATGGCATAGATGCG	0.488	0	86.0	88.0	87.0	2	179437657	1970	4149	6119	SO:0001583	missense	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	2129545, 10051295	Standard	NM_003319	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.73202C>T	2.37:g.179437657G>A	ENSP00000467141:p.Ala24401Val	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	ENST00000589042.1	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937889	0.52972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.91	5.91	0.95273	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88463	0.6443	H	0.98466	4.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.92146	0.5724	9	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	15336;15461;15528;22760	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	21833;15336;15528;15461;15334	ENSP00000343764:A21833V;ENSP00000434586:A15336V;ENSP00000340554:A15528V;ENSP00000352154:A15461V	ENSP00000340554:A15528V	A	-	2	0	TTN	179145903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.813000	0.96785	0.655000	0.94253	GCC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450680.2		-0.507131	0	-15	28	0	0	1	0	NM_133378	3	6.640546	36	0.076923
RYR2	6262	broad.mit.edu	hg19	1	237947564	237947564	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:237947564G>A	ENST00000366574.2	+	90	12869	c.12552G>A	c.(12550-12552)gaG>gaA	p.E4184E	RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.E4190E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4184		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		GAGAGAAAGAGAAGATGGAAC	0.507	0	86.0	90.0	89.0	1	237947564	1986	4185	6171	SO:0001819	synonymous_variant	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2	2380170, 8406504, 11159936	Standard	NM_001035	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12552G>A	1.37:g.237947564G>A		Q15411|Q546N8|Q5T3P2	ENST00000366574.2	37	CCDS55691.1																																																																																			RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		94.711548	0	-1	96	0	0	1	0	NM_001035	31	95.203522	44	0.413333
NRXN1	9378	broad.mit.edu	hg19	2	51255230	51255230	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:51255230C>T	ENST00000404971.1	-	2	1521	c.182G>A	c.(181-183)cGc>cAc	p.R61H	NRXN1_ENST00000406316.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R61H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	61	Laminin G-like 1.	adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		GCGGGCGCTGCGAGTCTTGAG	0.672	0	10.0	14.0	13.0	2	51255230	1987	4148	6135	SO:0001583	missense	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915		8008	protein-coding gene	gene with protein product		600565				Standard	NM_001135659	Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000404971.1:c.182G>A	2.37:g.51255230C>T	ENSP00000385142:p.Arg61His	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	ENST00000404971.1	37	CCDS46282.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857806	0.51376	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.041320	0.07849	U	0.964350	T	0.67050	0.2852	L	0.33485	1.01	0.27730	N	0.944834	B;B;P	0.50066	0.003;0.012;0.931	B;B;B	0.38378	0.005;0.005;0.272	T	0.55425	-0.8143	10	0.21540	T	0.41	.	11.7028	0.51581	0.0:0.9186:0.0:0.0814	.	61;61;61	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	H	61	ENSP00000385142:R61H;ENSP00000384311:R61H;ENSP00000434015:R61H;ENSP00000385017:R61H;ENSP00000385434:R61H;ENSP00000385681:R61H;ENSP00000385310:R61H	ENSP00000385017:R61H	R	-	2	0	NRXN1	51108734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.690000	0.61731	2.293000	0.77203	0.563000	0.77884	CGC	NRXN1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000323894.3		33.421350	0	6	15	0	0	1	0		11	33.623171	16	0.407407
PER1	5187	broad.mit.edu	hg19	17	8044505	8044505	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr17:8044505C>T	ENST00000317276.4	-	23	3991	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	PER1_ENST00000581082.1_Missense_Mutation_p.E1229K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1252	CRY binding domain (By similarity).	circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					TGGGCCTCCTCGCAGCCCTCT	0.637	0	140.0	152.0	148.0	17	8044505	2203	4300	6503	SO:0001583	missense	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094		8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER	9323128	Standard	NM_002616	Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3754G>A	17.37:g.8044505C>T	ENSP00000314420:p.Glu1252Lys	B2RPA8|B4DI49|D3DTR3	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	6.619	0.482655	0.12581	.	.	ENSG00000179094	ENST00000317276	T	0.12879	2.64	3.79	1.78	0.24846	.	1.104460	0.06956	N	0.815542	T	0.04907	0.0132	N	0.14661	0.345	0.19300	N	0.999979	P;B	0.43352	0.804;0.043	B;B	0.19946	0.027;0.012	T	0.25187	-1.0139	10	0.12766	T	0.61	-2.0E-4	5.7603	0.18196	0.0:0.7549:0.0:0.2451	.	1243;1252	A2I2P6;O15534	.;PER1_HUMAN	K	1252	ENSP00000314420:E1252K	ENSP00000314420:E1252K	E	-	1	0	PER1	7985230	0.000000	0.05858	0.103000	0.21229	0.127000	0.20565	-0.083000	0.11286	0.578000	0.29487	0.491000	0.48974	GAG	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		197.366121	0	-41	206	0	0	1	0		59	203.846041	14	0.808219
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209		activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	GTGGGGGGCCAGCGGTCGGAG	0.612	82	104.0	89.0	94.0	19	3118942	2203	4300	6503	SO:0001583	missense	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256		4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2	1302014, 23802516	Standard	NM_002067	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu	O15109|Q14350|Q6IB00	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		51.939996	0	5	86	0	0	1	0	NM_002067	18	52.333760	27	0.400000
ZNF20	7568	broad.mit.edu	hg19	19	12244189	12244189	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:12244189C>T	ENST00000334213.5	-	4	1036	c.812G>A	c.(811-813)cGt>cAt	p.R271H	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	271		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	endometrium(1)|kidney(1)|lung(6)	8					TTTATGTCTACGAATTTCACT	0.398	0	75.0	80.0	78.0	19	12244189	2195	4299	6494	SO:0001583	missense	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010	"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""			Standard	NM_021143	Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.812G>A	19.37:g.12244189C>T	ENSP00000335437:p.Arg271His	Q8N457|Q9UG41	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	2.249	-0.372079	0.05034	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.08102	3.13	1.09	-2.17	0.07059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	L	0.47190	1.495	0.09310	N	1	B	0.27316	0.175	B	0.12837	0.008	T	0.44406	-0.9330	9	0.17832	T	0.49	.	0.2282	0.00177	0.2049:0.2427:0.2042:0.3482	.	271	P17024	ZNF20_HUMAN	H	271	ENSP00000335437:R271H	ENSP00000292241:R271H	R	-	2	0	ZNF20	12105189	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-1.041000	0.03542	-1.161000	0.02800	-0.671000	0.03813	CGT	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1		57.113080	0	-9	67	0	0	1	0	NM_021143	19	57.840348	32	0.372549
POLK	51426	broad.mit.edu	hg19	5	74892575	74892575	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:74892575A>C	ENST00000241436.4	+	13	2229	c.2057A>C	c.(2056-2058)tAt>tCt	p.Y686S	POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.Y488S|POLK_ENST00000352007.5_Missense_Mutation_p.Y488S|POLK_ENST00000380481.3_Missense_Mutation_p.Y596S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	686		DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	AAGCAAGATTATGAAGCCCAT	0.318	0	37.0	36.0	36.0	5	74892575	2202	4300	6502	SO:0001583	missense	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008	"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1	10887153, 10518552	Standard	NM_016218	Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2057A>C	5.37:g.74892575A>C	ENSP00000241436:p.Tyr686Ser	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472608	0.26423	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.53857	1.36;0.6;0.6;1.36	5.33	-2.43	0.06522	.	1.321200	0.04860	N	0.443877	T	0.39226	0.1070	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.14337	-1.0476	10	0.25751	T	0.34	-0.0106	0.6121	0.00763	0.2808:0.3092:0.155:0.255	.	488;686	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	S	686;488;488;596	ENSP00000241436:Y686S;ENSP00000342256:Y488S;ENSP00000426853:Y488S;ENSP00000369848:Y596S	ENSP00000241436:Y686S	Y	+	2	0	POLK	74928331	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-0.276000	0.08514	-0.120000	0.11809	0.533000	0.62120	TAT	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		19.614687	0	10	39	0	0	1	0	NM_016218	7	20.702367	18	0.280000
DYNC2H1	79659	broad.mit.edu	hg19	11	103175411	103175411	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr11:103175411T>A	ENST00000375735.2	+	77	11488	c.11344T>A	c.(11344-11346)Tta>Ata	p.L3782I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3789I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3782	AAA 6 (By similarity).	cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	TTTGAAGAACTTACATCTTGT	0.393	0	99.0	99.0	99.0	11	103175411	1874	4108	5982	SO:0001583	missense	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240	"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2	9763680, 9373155	Standard	NM_001080463	Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11344T>A	11.37:g.103175411T>A	ENSP00000364887:p.Leu3782Ile	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927336	0.73327	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.05580	3.42;3.42	5.37	4.24	0.50183	Dynein heavy chain (1);	0.000000	0.64402	D	0.000002	T	0.16257	0.0391	M	0.67700	2.07	0.58432	D	0.999996	D;D	0.71674	0.998;0.997	D;D	0.67382	0.951;0.919	T	0.03325	-1.1048	10	0.22109	T	0.4	.	7.423	0.27083	0.0:0.1523:0.0:0.8477	.	3782;3789	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3782;3789;28	ENSP00000364887:L3782I;ENSP00000381167:L3789I	ENSP00000364887:L3782I	L	+	1	2	DYNC2H1	102680621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.722000	0.54948	2.170000	0.68504	0.533000	0.62120	TTA	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		111.617411	0	-3	61	0	0	1	0	XM_370652	35	111.629915	33	0.514706
OR4M2	390538	broad.mit.edu	hg19	15	22368716	22368716	+	Silent	SNP	C	C	T	rs148996699		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:22368716C>T	ENST00000332663.2	+	1	239	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	47		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	TTATCATTTGCACCATCAGTC	0.423	0	481.0	418.0	439.0	15	22368716	2203	4300	6503	SO:0001819	synonymous_variant	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974	"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product						Standard	NM_001004719	Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.141C>T	15.37:g.22368716C>T		B9EH16|Q6IEY2	ENST00000332663.2	37	CCDS32172.1																																																																																			OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		-49.501279	0	-260	212	0	0	1	0		4	6.579928	211	0.018605
NACA	4666	broad.mit.edu	hg19	12	57113207	57113207	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr12:57113207T>G	ENST00000454682.1	-	3	2388	c.2107A>C	c.(2107-2109)Aca>Cca	p.T703P	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0		interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10					TCTGAAGCTGTAGGAACCAAG	0.493	0	43.0	39.0	40.0	12	57113207	1568	3582	5150	SO:0001583	missense	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531		7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""		8047162	Standard	NM_001113202	Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2107A>C	12.37:g.57113207T>G	ENSP00000403817:p.Thr703Pro		ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	T	10.10	1.258402	0.23051	.	.	ENSG00000196531	ENST00000454682	T	0.43294	0.95	3.63	-3.76	0.04359	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21518	-1.0243	7	.	.	.	.	1.1253	0.01733	0.2761:0.1577:0.3957:0.1705	.	703	E9PAV3	.	P	703	ENSP00000403817:T703P	.	T	-	1	0	NACA	55399474	0.001000	0.12720	0.246000	0.24233	0.393000	0.30537	-0.102000	0.10956	-0.412000	0.07519	0.369000	0.22263	ACA	NACA-201	KNOWN	basic	protein_coding	protein_coding			46.924342	0	-7	24	0	0	1	0	NM_005594	15	46.924342	15	0.500000
BTBD7	55727	broad.mit.edu	hg19	14	93760636	93760636	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:93760636T>G	ENST00000334746.5	-	3	1037	c.730A>C	c.(730-732)Atg>Ctg	p.M244L	BTBD7_ENST00000298896.3_Missense_Mutation_p.M244L|BTBD7_ENST00000555525.1_Missense_Mutation_p.M244L|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	244					breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	TAATAACACATGTAATCAAAG	0.388	0	77.0	74.0	75.0	14	93760636	2203	4300	6503	SO:0001583	missense	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114	"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386			10819331, 11527404	Standard	NM_001289133	Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.730A>C	14.37:g.93760636T>G	ENSP00000335615:p.Met244Leu	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	ENST00000334746.5	37	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996998	0.54147	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T	0.35789	1.29	5.59	5.59	0.84812	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.36672	1.1	0.80722	D	1	B;B;P	0.40032	0.257;0.257;0.699	P;P;P	0.58130	0.557;0.455;0.833	T	0.18871	-1.0323	10	0.02654	T	1	.	15.7558	0.78021	0.0:0.0:0.0:1.0	.	244;244;244	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	L	244	ENSP00000335615:M244L	ENSP00000298896:M244L	M	-	1	0	BTBD7	92830389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.122000	0.65172	0.533000	0.62120	ATG	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		116.947184	0	2	80	0	0	1	0	NM_001002860	37	117.208770	47	0.440476
PDXDC1	23042	broad.mit.edu	hg19	16	15102697	15102697	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr16:15102697A>T	ENST00000396410.4	+	7	738	c.641A>T	c.(640-642)cAt>cTt	p.H214L	PDXDC1_ENST00000450288.2_Missense_Mutation_p.H186L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H232L|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H123L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H187L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H199L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H214L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	214		carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					GGATCCCAGCATCAGATGGTG	0.438	0	361.0	327.0	338.0	16	15102697	2197	4300	6497	SO:0001583	missense	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05						28995	protein-coding gene	gene with protein product		614244				Standard	XM_005255173	Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.641A>T	16.37:g.15102697A>T	ENSP00000379691:p.His214Leu	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	33	5.237105	0.95240	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	L	0.33668	1.02	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.996;1.0;0.996;0.999;0.998	D;D;D;D;D;D	0.79784	0.984;0.968;0.993;0.97;0.989;0.984	T	0.28299	-1.0048	10	0.18710	T	0.47	-18.0121	15.327	0.74172	1.0:0.0:0.0:0.0	.	186;123;199;214;186;214	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996	.;.;.;.;.;PDXD1_HUMAN	L	199;123;214;214;186	ENSP00000322807:H199L;ENSP00000400310:H123L;ENSP00000437835:H214L;ENSP00000379691:H214L;ENSP00000391147:H186L	ENSP00000322807:H199L	H	+	2	0	PDXDC1	15010198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.488000	0.90458	2.221000	0.72209	0.528000	0.53228	CAT	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2		55.959181	0	24	192	0	0	1	0	NM_015027	29	75.629828	151	0.161111
UTP14C	9724	broad.mit.edu	hg19	13	52605146	52605146	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:52605146G>T	ENST00000521776.2	+	2	2939	c.2206G>T	c.(2206-2208)Gtg>Ttg	p.V736L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	736		cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)	AGCAGAGGATGTGGGCTACCA	0.478	0	127.0	118.0	121.0	13	52605146	2203	4300	6503	SO:0001583	missense	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797		20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266	9039502, 16354793	Standard	NM_021645	Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.2206G>T	13.37:g.52605146G>T	ENSP00000428619:p.Val736Leu	Q5FWG3|Q92555	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593690	0.28445	.	.	ENSG00000253797	ENST00000521776	T	0.18810	2.19	3.04	3.04	0.35103	.	0.465178	0.21554	N	0.072687	T	0.13157	0.0319	N	0.22421	0.69	0.35368	D	0.788773	B	0.29481	0.245	B	0.27170	0.077	T	0.21415	-1.0246	9	.	.	.	-18.0766	11.8685	0.52507	0.0:0.0:1.0:0.0	.	736	Q5TAP6	UT14C_HUMAN	L	736	ENSP00000428619:V736L	.	V	+	1	0	UTP14C	51503147	0.861000	0.29849	0.993000	0.49108	0.700000	0.40528	0.658000	0.24979	1.704000	0.51252	0.455000	0.32223	GTG	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2		150.667819	1	-3	96	0	1.61004e-24	1	1.65355e-24	NM_021645	49	150.769112	56	0.466667
CHD1	1105	broad.mit.edu	hg19	5	98239547	98239547	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:98239547C>T	ENST00000284049.3	-	3	470	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	107		regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	gctgctgctgctgttgctgct	0.393	0	104.0	99.0	100.0	5	98239547	2203	4300	6503	SO:0001819	synonymous_variant	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922		1915	protein-coding gene	gene with protein product		602118			8460153, 9326634	Standard	XM_005271866	Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.321G>A	5.37:g.98239547C>T		Q17RZ3	ENST00000284049.3	37	CCDS34204.1																																																																																			CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		5.076688	0	2	41	0	0	1	0	NM_001270	4	9.233478	27	0.129032
ANKRD27	84079	broad.mit.edu	hg19	19	33137370	33137370	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:33137370C>T	ENST00000306065.4	-	4	523	c.365G>A	c.(364-366)aGt>aAt	p.S122N	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S122N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	122		early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)				AATACCTGAACTCTCTCTCTT	0.388	0	75.0	78.0	77.0	19	33137370	2203	4300	6503	SO:0001583	missense	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186	"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""				11230166, 16525121	Standard	NM_032139	Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.365G>A	19.37:g.33137370C>T	ENSP00000304292:p.Ser122Asn	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448285	0.26074	.	.	ENSG00000105186	ENST00000306065	T	0.62232	0.04	5.24	2.92	0.33932	.	0.275126	0.31427	N	0.007680	T	0.36110	0.0955	N	0.12182	0.205	0.09310	N	0.999996	B	0.11235	0.004	B	0.09377	0.004	T	0.11084	-1.0602	10	0.18276	T	0.48	-9.9338	5.9057	0.19001	0.0:0.5001:0.3156:0.1842	.	122	Q96NW4	ANR27_HUMAN	N	122	ENSP00000304292:S122N	ENSP00000304292:S122N	S	-	2	0	ANKRD27	37829210	0.994000	0.37717	0.969000	0.41365	0.988000	0.76386	0.479000	0.22228	1.183000	0.42943	0.545000	0.68477	AGT	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		45.680745	0	35	116	0	0	1	0	NM_032139	19	51.089035	63	0.231707
SBNO2	22904	broad.mit.edu	hg19	19	1119013	1119013	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:1119013C>T	ENST00000361757.3	-	14	1761	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	SBNO2_ENST00000438103.2_Silent_p.L451L|SBNO2_ENST00000587024.1_Silent_p.L508L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	508		macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	GGCTCACCAGCAGGGCCGCGC	0.667	0	20.0	26.0	24.0	19	1119013	2122	4219	6341	SO:0001819	synonymous_variant	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932		29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963	10231032	Standard	NM_014963	Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000587024.1:c.1524G>A	19.37:g.1119013C>T		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	ENST00000587024.1	37																																																																																				SBNO2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000458060.1		7.020773	0	11	16	0	0	1	0	NM_014963	3	7.242792	6	0.333333
MC2R	0	broad.mit.edu	hg19	18	13885229	13885229	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr18:13885229T>A	ENST00000327606.3	-	2	469	c.289A>T	c.(289-291)Agt>Tgt	p.S97C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	97		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					GTTTCAAAACTGCCACGTGGC	0.483	0	123.0	95.0	105.0	18	13885229	2203	4300	6503	SO:0001583	missense		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231	"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397			8390157	Standard	NM_001291911	Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.289A>T	18.37:g.13885229T>A	ENSP00000333821:p.Ser97Cys	A8K016|Q3MI45|Q504X6	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154633	0.21371	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.37584	2.06;1.19	4.47	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	0.838596	0.11007	N	0.609919	T	0.25680	0.0625	N	0.20845	0.615	0.09310	N	1	P	0.42518	0.782	P	0.46172	0.506	T	0.19910	-1.0291	10	0.87932	D	0	.	5.1088	0.14798	0.0:0.3521:0.2945:0.3534	.	97	Q01718	ACTHR_HUMAN	C	97	ENSP00000333821:S97C;ENSP00000382718:S97C	ENSP00000333821:S97C	S	-	1	0	MC2R	13875229	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	-0.841000	0.04359	-0.065000	0.13021	0.528000	0.53228	AGT	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		125.425116	0	13	101	0	0	1	0		39	125.427930	38	0.506494
PCDHA9	0	broad.mit.edu	hg19	5	140228118	140228118	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:140228118C>T	ENST00000378122.3	+	1	762	c.38C>T	c.(37-39)cCt>cTt	p.P13L	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P13L|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1									breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GAGGGTCAGCCTCTACTGCTC	0.507	0	81.0	81.0	81.0	5	140228118	2197	4267	6464	SO:0001583	missense	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961	"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315			10380929	Standard	NM_031857	Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.38C>T	5.37:g.140228118C>T	ENSP00000436042:p.Pro13Leu	O15053|Q2M3S5	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164741	0.06502	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.48836	0.88;0.8	3.73	-6.0	0.02206	Cadherin (1);	.	.	.	.	T	0.14614	0.0353	N	0.02973	-0.45	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	9	0.17369	T	0.5	.	0.774	0.01029	0.2604:0.112:0.2568:0.3708	.	13;13	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	13	ENSP00000436042:P13L;ENSP00000367362:P13L	ENSP00000367362:P13L	P	+	2	0	PCDHA9	140208302	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.344000	0.01098	-1.019000	0.03358	-0.362000	0.07510	CCT	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		173.047817	0	-85	72	0	0	1	0	NM_031857	49	182.212737	4	0.924528
SPDL1	54908	broad.mit.edu	hg19	5	169015526	169015526	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:169015526G>A	ENST00000265295.4	+	2	385	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1												GAGTCAAAATGAATTACAGAA	0.408	0	109.0	105.0	106.0	5	169015526	2203	4300	6503	SO:0001583	missense	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275		26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99	20427577	Standard	NM_017785	Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.106G>A	5.37:g.169015526G>A	ENSP00000265295:p.Glu36Lys		ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600100	0.46423	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.37235	1.21	5.6	3.83	0.44106	.	0.205916	0.49916	D	0.000135	T	0.48314	0.1493	M	0.66939	2.045	0.20196	N	0.999925	D	0.69078	0.997	P	0.61800	0.894	T	0.33727	-0.9857	10	0.26408	T	0.33	-11.0134	7.7947	0.29140	0.1393:0.0:0.728:0.1327	.	36	Q96EA4	SPDLY_HUMAN	K	36	ENSP00000265295:E36K	ENSP00000265295:E36K	E	+	1	0	CCDC99	168948104	1.000000	0.71417	0.004000	0.12327	0.117000	0.20001	6.080000	0.71299	0.847000	0.35167	0.655000	0.94253	GAA	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2		55.147766	0	-1	35	0	0	1	0	NM_017785	18	55.153665	19	0.486486
MYO7B	4648	broad.mit.edu	hg19	2	128324266	128324266	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:128324266C>T	ENST00000389524.4	+	5	387	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	MYO7B_ENST00000409816.2_Missense_Mutation_p.P112S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P112S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	112	Myosin head-like.		apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)	CCAGGTGCTGCCGCTCTACAC	0.607	0	30.0	36.0	34.0	2	128324266	2014	4169	6183	SO:0001583	missense		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994	"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541			8022818, 8884266	Standard	NM_001080527	Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.334C>T	2.37:g.128324266C>T	ENSP00000386461:p.Pro112Ser	Q14786|Q8TEE1	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110429	0.77210	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.73152	-0.72;-0.72;-0.72	5.55	5.55	0.83447	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.77313	2.365	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.83690	0.0176	10	0.39692	T	0.17	.	19.5117	0.95144	0.0:1.0:0.0:0.0	.	112	Q6PIF6	MYO7B_HUMAN	S	112	ENSP00000374175:P112S;ENSP00000415090:P112S;ENSP00000386461:P112S	ENSP00000374175:P112S	P	+	1	0	MYO7B	128040736	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.725000	0.84808	2.595000	0.87683	0.561000	0.74099	CCG	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		7.016162	0	-8	13	0	0	1	0	XM_291001	3	8.271877	12	0.200000
OR4K1	79544	broad.mit.edu	hg19	14	20404381	20404381	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:20404381G>A	ENST00000285600.4	+	1	615	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	186		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	CTTGGTGATAGAGCTGGCTTG	0.443	0	163.0	167.0	166.0	14	20404381	2203	4300	6503	SO:0001583	missense		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249	"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product						Standard	NM_001004063	Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.556G>A	14.37:g.20404381G>A	ENSP00000285600:p.Glu186Lys	B9EKV9|Q8NGD6|Q96R73	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	1.238	-0.622134	0.03636	.	.	ENSG00000155249	ENST00000285600	T	0.00019	9.06	4.82	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.339759	0.25307	N	0.031619	T	0.00039	0.0001	N	0.00071	-2.27	0.23528	N	0.997481	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.02654	T	1	.	3.9763	0.09476	0.2626:0.1908:0.5466:0.0	.	186	Q8NGD4	OR4K1_HUMAN	K	186	ENSP00000285600:E186K	ENSP00000285600:E186K	E	+	1	0	OR4K1	19474221	0.000000	0.05858	1.000000	0.80357	0.883000	0.51084	0.014000	0.13333	1.049000	0.40321	0.563000	0.77884	GAG	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		148.926215	0	41	133	0	0	1	0		47	148.928575	46	0.505376
DYNC1H1	1778	broad.mit.edu	hg19	14	102498624	102498624	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:102498624A>G	ENST00000360184.4	+	52	10063	c.9899A>G	c.(9898-9900)aAg>aGg	p.K3300R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3300	Stalk (By similarity).	cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166					AAGTCGATCAAGAAGCAGCAC	0.572	0	214.0	197.0	203.0	14	102498624	2203	4300	6503	SO:0001583	missense	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102	"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1	16260502, 8666668	Standard	NM_001376	Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9899A>G	14.37:g.102498624A>G	ENSP00000348965:p.Lys3300Arg	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430806	0.62844	.	.	ENSG00000197102	ENST00000360184	T	0.74315	-0.83	5.3	5.3	0.74995	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	L	0.60455	1.87	0.80722	D	1	B	0.16166	0.016	B	0.20955	0.032	T	0.69506	-0.5127	10	0.48119	T	0.1	.	15.5463	0.76104	1.0:0.0:0.0:0.0	.	3300	Q14204	DYHC1_HUMAN	R	3300	ENSP00000348965:K3300R	ENSP00000348965:K3300R	K	+	2	0	DYNC1H1	101568377	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.229000	0.95273	2.135000	0.66039	0.383000	0.25322	AAG	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		204.627978	0	-23	330	0	0	1	0	NM_001376	74	218.189401	203	0.267148
THSD7B	80731	broad.mit.edu	hg19	2	138208465	138208465	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:138208465A>C	ENST00000409968.1	+	15	3188	c.3010A>C	c.(3010-3012)Agc>Cgc	p.S1004R	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1004R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S973R					thrombospondin, type I, domain containing 7B						NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)	TTGCAAGTTAAGCGATTGGTC	0.388	0	108.0	103.0	105.0	2	138208465	1850	4119	5969	SO:0001583	missense			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229		29348	protein-coding gene	gene with protein product					11214970	Standard	NM_001080427	Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3010A>C	2.37:g.138208465A>C	ENSP00000387145:p.Ser1004Arg		ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	A	27.7	4.852763	0.91355	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60171	2.03;0.21;0.21	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87170	0.2220	10	0.30854	T	0.27	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	973	C9JKN6	.	R	1004;1004;973	ENSP00000387145:S1004R;ENSP00000272643:S1004R;ENSP00000413841:S973R	ENSP00000272643:S1004R	S	+	1	0	THSD7B	137924935	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.244000	0.73946	0.533000	0.62120	AGC	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		8.655812	0	-1	62	0	0	1	0	XM_046570.9	5	12.721848	29	0.147059
SNRPA1	6627	broad.mit.edu	hg19	15	101835317	101835317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:101835317delC	ENST00000254193.6	-	1	139	c.67delG	c.(67-69)gagfs	p.E23fs	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	23			catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		AGGTCCAGCTCCCGGTCGCGC	0.711	0	6.0	6.0	6.0	15	101835317	2073	4098	6171	SO:0001589	frameshift_variant	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876		11152	protein-coding gene	gene with protein product		603521			2928112	Standard	NM_003090	Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.67delG	15.37:g.101835317delC	ENSP00000254193:p.Glu23fs	B2R5I6|Q8TBD2	ENST00000254193.6	37	CCDS10391.1																																																																																			SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	.	.		1	6					NM_003090	2		4	0.33
ANXA13	312	broad.mit.edu	hg19	8	124707762	124707762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr8:124707762delT	ENST00000262219.6	-	7	641	c.574delA	c.(574-576)atcfs	p.I192fs	ANXA13_ENST00000419625.1_Frame_Shift_Del_p.I151fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	151		cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)		GACACCAGGATTTTTTTTAGG	0.413	0	150.0	148.0	149.0	8	124707762	2203	4300	6503	SO:0001589	frameshift_variant	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537	"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13	9503022	Standard	NM_004306	Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.451delA	8.37:g.124707762delT	ENSP00000390809:p.Ile151fs	Q9BQR5	ENST00000419625.1	37	CCDS47917.1																																																																																			ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	.	.		24	155					NM_004306	7		582	0.01
BAP1	8314	broad.mit.edu	hg19	3	52436650	52436659	+	Frame_Shift_Del	DEL	ATGAACTCAT	ATGAACTCAT	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436650_52436659delATGAACTCAT	ENST00000460680.1	-	16	2486_2495	c.2015_2024delATGAGTTCAT	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	672	Interaction with BRCA1.	monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	AAAGGTGCAGATGAACTCATCGTAGTTGTG	0.562	1									SO:0001589	frameshift_variant	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930		950	protein-coding gene	gene with protein product		603089			9528852	Standard	NM_004656	Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2015_2024delATGAGTTCAT	3.37:g.52436650_52436659delATGAACTCAT	ENSP00000417132:p.Asp672fs	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	ENST00000460680.1	37	CCDS2853.1																																																																																			BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.		5	99						23		8	0.74
CCDC71L	168455	broad.mit.edu	hg19	7	106301004	106301004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr7:106301004delC	ENST00000523505.1	-	1	438	c.339delG	c.(337-339)gggfs	p.G113fs		NM_175884.4	NP_787080.2	Q8N9Z2	YG034_HUMAN	coiled-coil domain containing 71-like	113	Pro-rich.				endometrium(1)	1					CTGTAGGGGGCCCCGGGGGGT	0.761	0	4.0	5.0	5.0	7	106301004	1735	3902	5637	SO:0001589	frameshift_variant		CCDS55151.1	7q22.3	2011-12-12	2011-12-12	2011-12-12	ENSG00000253276	ENSG00000253276		26685	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 74"""	C7orf74	12477932	Standard	NM_175884	Approved	FLJ36031	uc003vdt.3	Q8N9Z2	OTTHUMG00000164150	ENST00000523505.1:c.339delG	7.37:g.106301004delC	ENSP00000430897:p.Gly113fs	Q7Z756	ENST00000523505.1	37	CCDS55151.1																																																																																			CCDC71L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377493.1	.	.		5	5					NM_175884	2		4	0.33
PRKDC	5591	broad.mit.edu	hg19	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.	cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			AGGCCCAGCCTTTTTTTCCCA	0.498	0	248.0	251.0	250.0	8	48746799	1981	4176	6157	SO:0001589	frameshift_variant		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1	7638222	Standard	NM_001081640	Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	ENST00000314191.2	37																																																																																				PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		.	.		-12	279					NM_001081640	7		1142	0.01
BAP1	8314	broad.mit.edu	hg19	3	52436649	52436659	+	Frame_Shift_Del	DEL	GATGAACTCAT	GATGAACTCAT	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436649_52436659delGATGAACTCAT	ENST00000460680.1	-	16	2486_2496	c.2015_2025delATGAGTTCATC	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0		anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	TAAAGGTGCAGATGAACTCATCGTAGTTGTG	0.564	1									SO:0001589	frameshift_variant	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930		950	protein-coding gene	gene with protein product		603089			9528852	Standard	NM_004656	Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2015_2025delATGAGTTCATC	3:g.52436649_52436659delGATGAACTCAT	ENSP00000417132:p.Asp672fs	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	ENST00000460680.1		CCDS2853.1																																																																																			BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	2.697000e+01	9.029000e+01		8	100						22		7	7.860000e-01