#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AGAP1	116987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	236706509	236706509	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:236706509G>A	ENST00000304032.8	+	7	1360	c.780G>A	c.(778-780)gtG>gtA	p.V260V	AGAP1_ENST00000409457.1_Silent_p.V260V|AGAP1_ENST00000409538.1_Silent_p.V525V|AGAP1_ENST00000428334.2_Silent_p.V99V|AGAP1_ENST00000336665.5_Silent_p.V260V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	260	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.V260V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCGCGCAGGTGTCTGCCGTGC	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											178.0	173.0	175.0					2																	236706509		2203	4300	6503	SO:0001819	synonymous_variant	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.780G>A	2.37:g.236706509G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	CCDS33408.1																																																																																				0.502	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2		NM_014914	
ANKRD12	23253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	9256041	9256042	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr18:9256041_9256042delAA	ENST00000262126.4	+	9	3016_3017	c.2776_2777delAA	c.(2776-2778)aaafs	p.K926fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.K903fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.K903fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	926						cytoplasm (GO:0005737)|nucleus (GO:0005634)				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						AGCAGAAAGCAAAGAAAAGCAC	0.327																																																	0																																										SO:0001589	frameshift_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2776_2777delAA	18.37:g.9256041_9256042delAA	ENSP00000262126:p.Lys926fs	Somatic		WXS	Illumina HiSeq	Phase_I	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	ENST00000262126.4	37	CCDS11843.1																																																																																				0.327	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2		NM_015208	
APBA2	321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	29400578	29400578	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:29400578G>A	ENST00000558402.1	+	14	2622	c.2023G>A	c.(2023-2025)Gtg>Atg	p.V675M	APBA2_ENST00000558330.1_Missense_Mutation_p.V663M|APBA2_ENST00000558259.1_Missense_Mutation_p.V675M|APBA2_ENST00000561069.1_Missense_Mutation_p.V675M|APBA2_ENST00000411764.1_Missense_Mutation_p.V663M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	675	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.V675M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCTTCAGCGTGCAGAATGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											163.0	147.0	153.0					15																	29400578		2203	4300	6503	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2023G>A	15.37:g.29400578G>A	ENSP00000453293:p.Val675Met	Somatic		WXS	Illumina HiSeq	Phase_I	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067196	0.76301	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.34072	1.38	4.27	4.27	0.50696	PDZ/DHR/GLGF (4);	0.151772	0.41500	D	0.000866	T	0.62913	0.2467	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75020	0.939;0.914;0.985	T	0.70472	-0.4862	10	0.87932	D	0	.	16.2145	0.82195	0.0:0.0:1.0:0.0	.	663;663;675	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	M	663;675	ENSP00000409312:V663M	ENSP00000219865:V675M	V	+	1	0	APBA2	27187870	1.000000	0.71417	0.995000	0.50966	0.659000	0.38960	9.340000	0.97038	2.356000	0.79943	0.655000	0.94253	GTG		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503	
LVRN	206338	broad.mit.edu;ucsc.edu	37	5	115298600	115298600	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:115298600C>G	ENST00000357872.4	+	1	410	c.286C>G	c.(286-288)Cta>Gta	p.L96V	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		96						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L96V(1)									CTGGGACCAGCTACGCCTGCC	0.701																																																	1	Substitution - Missense(1)	kidney(1)											26.0	31.0	29.0					5																	115298600		2184	4272	6456	SO:0001583	missense	206338																														ENST00000357872.4:c.286C>G	5.37:g.115298600C>G	ENSP00000350541:p.Leu96Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	6.246	0.413489	0.11812	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.04917	3.53	4.18	2.37	0.29283	.	0.323849	0.21929	N	0.067053	T	0.04497	0.0123	N	0.24115	0.695	0.80722	D	1	P	0.34864	0.473	B	0.32393	0.145	T	0.50841	-0.8780	10	0.44086	T	0.13	.	9.1216	0.36791	0.0:0.8002:0.0:0.1998	.	96	Q6Q4G3	AMPQ_HUMAN	V	96	ENSP00000350541:L96V	ENSP00000350541:L96V	L	+	1	2	AC010282.1	115326499	0.254000	0.23992	0.966000	0.40874	0.065000	0.16274	0.075000	0.14686	0.096000	0.17463	-0.813000	0.03139	CTA		0.701	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			
ARFIP1	27236	hgsc.bcm.edu;ucsc.edu	37	4	153831304	153831304	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr4:153831304delT	ENST00000451320.2	+	9	1219	c.1055delT	c.(1054-1056)cttfs	p.L352fs	ARFIP1_ENST00000356064.3_Frame_Shift_Del_p.L320fs|ARFIP1_ENST00000405727.2_Frame_Shift_Del_p.L320fs|ARFIP1_ENST00000429148.2_Frame_Shift_Del_p.L172fs|ARFIP1_ENST00000353617.2_Frame_Shift_Del_p.L352fs			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	352	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GAACAGACACTTAAACAGTTC	0.438																																																	0													109.0	109.0	109.0					4																	153831304		2203	4300	6503	SO:0001589	frameshift_variant	27236			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.1055delT	4.37:g.153831304delT	ENSP00000395083:p.Leu352fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M2X4|Q3SYL4|Q9Y2X6	Frame_Shift_Del	DEL	ENST00000451320.2	37	CCDS34080.1																																																																																				0.438	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1		NM_014447	
ARHGAP20	57569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110451607	110451607	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:110451607G>T	ENST00000260283.4	-	16	2347	c.2063C>A	c.(2062-2064)aCa>aAa	p.T688K	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.T231K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.T665K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.T652K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.T652K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.T662K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.T662K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	688					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T688K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCTGCAGCTGTGGACAGGTA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											68.0	65.0	66.0					11																	110451607		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2063C>A	11.37:g.110451607G>T	ENSP00000260283:p.Thr688Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052378	0.36181	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10192	2.9;2.9;2.93;2.9;2.9;2.9;2.9	5.39	2.48	0.30137	.	0.455576	0.22182	N	0.063493	T	0.12518	0.0304	L	0.51422	1.61	0.09310	N	1	P;P;D	0.53462	0.928;0.933;0.96	P;B;P	0.47573	0.55;0.299;0.494	T	0.17258	-1.0375	10	0.19590	T	0.45	.	9.5061	0.39048	0.2174:0.0:0.7826:0.0	.	662;688;665	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	K	688;662;231;665;652;662;652	ENSP00000260283:T688K;ENSP00000349660:T662K;ENSP00000437905:T231K;ENSP00000432076:T665K;ENSP00000436319:T652K;ENSP00000436522:T662K;ENSP00000431399:T652K	ENSP00000260283:T688K	T	-	2	0	ARHGAP20	109956817	0.881000	0.30235	0.032000	0.17829	0.842000	0.47809	1.993000	0.40747	0.257000	0.21650	0.655000	0.94253	ACA		0.537	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809	
ARMC4	55130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28270411	28270411	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr10:28270411T>G	ENST00000305242.5	-	7	1012	c.920A>C	c.(919-921)gAa>gCa	p.E307A	ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.E164A	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	307					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.E307A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGACATATTTTCTGAAAATTT	0.284																																																	1	Substitution - Missense(1)	kidney(1)											58.0	63.0	62.0					10																	28270411		2201	4292	6493	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.920A>C	10.37:g.28270411T>G	ENSP00000306410:p.Glu307Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226428	0.39300	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.53640	1.3;0.63;0.61	5.01	2.6	0.31112	.	0.181563	0.45126	D	0.000389	T	0.48333	0.1494	M	0.78637	2.42	0.41630	D	0.989012	P	0.51057	0.941	B	0.43478	0.421	T	0.54159	-0.8335	10	0.59425	D	0.04	-8.6568	9.0266	0.36234	0.0:0.1704:0.0:0.8296	.	307	Q5T2S8	ARMC4_HUMAN	A	307;201;164	ENSP00000306410:E307A;ENSP00000398155:E201A;ENSP00000239715:E164A	ENSP00000239715:E164A	E	-	2	0	ARMC4	28310417	0.976000	0.34144	1.000000	0.80357	0.564000	0.35744	1.667000	0.37471	0.855000	0.35359	0.533000	0.62120	GAA		0.284	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076	
ATR	545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142184019	142184019	+	Missense_Mutation	SNP	A	A	T	rs587783338		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr3:142184019A>T	ENST00000350721.4	-	41	7082	c.6961T>A	c.(6961-6963)Ttc>Atc	p.F2321I	ATR_ENST00000383101.3_Missense_Mutation_p.F2257I|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2321					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F2321I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGATGTAGAACTTTCCATCT	0.343								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	kidney(1)											82.0	76.0	78.0					3																	142184019		2202	4298	6500	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6961T>A	3.37:g.142184019A>T	ENSP00000343741:p.Phe2321Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.260260|2.260260	0.39995|0.39995	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.77620|.	-1.11;-1.11|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein kinase-like domain (1);|.	0.246709|.	0.42821|.	D|.	0.000641|.	T|T	0.45895|0.45895	0.1365|0.1365	N|N	0.19112|0.19112	0.55|0.55	0.36455|0.36455	D|D	0.866331|0.866331	B|.	0.22003|.	0.063|.	B|.	0.23852|.	0.049|.	T|T	0.52373|0.52373	-0.8584|-0.8584	10|5	0.18276|.	T|.	0.48|.	-7.1063|-7.1063	15.0677|15.0677	0.72008|0.72008	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2321|.	Q13535|.	ATR_HUMAN|.	I|D	2321;2257|167	ENSP00000343741:F2321I;ENSP00000372581:F2257I|.	ENSP00000343741:F2321I|.	F|V	-|-	1|2	0|0	ATR|ATR	143666709|143666709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.810000|2.810000	0.47979|0.47979	1.956000|1.956000	0.56807|0.56807	0.477000|0.477000	0.44152|0.44152	TTC|GTT		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184	
ATXN7L2	127002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110031529	110031529	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:110031529G>C	ENST00000369870.3	+	7	859	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	282	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.							p.V282L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGACGTGCTGGTGGCAGAGCT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											42.0	45.0	44.0					1																	110031529		2203	4300	6503	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.844G>C	1.37:g.110031529G>C	ENSP00000358886:p.Val282Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000369870.3	37	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995501	0.35226	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.20069	2.1	5.72	5.72	0.89469	SCA7 domain (2);	0.000000	0.53938	D	0.000043	T	0.07007	0.0178	N	0.00879	-1.12	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.26018	-1.0115	10	0.02654	T	1	-10.3793	16.7934	0.85595	0.0:0.0:1.0:0.0	.	282	Q5T6C5	AT7L2_HUMAN	L	282	ENSP00000358886:V282L	ENSP00000358886:V282L	V	+	1	0	ATXN7L2	109833052	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.536000	0.67180	2.698000	0.92095	0.561000	0.74099	GTG		0.617	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1		NM_153340	
AVIL	10677	broad.mit.edu;hgsc.bcm.edu	37	12	58207208	58207208	+	Splice_Site	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:58207208T>C	ENST00000257861.3	-	3	572		c.e3-2		AVIL_ENST00000537081.1_Splice_Site|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCTCCGGGTCTGGGAGGTAGT	0.577																																																	1	Unknown(1)	kidney(1)											51.0	48.0	49.0					12																	58207208		2203	4300	6503	SO:0001630	splice_region_variant	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.142-2A>G	12.37:g.58207208T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAU7|Q2NKM9	Splice_Site	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032401	0.35893	.	.	ENSG00000135407	ENST00000537081;ENST00000257861;ENST00000549994	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6047	0.62039	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AVIL	56493475	1.000000	0.71417	0.965000	0.40720	0.257000	0.26127	7.205000	0.77881	2.108000	0.64289	0.533000	0.62120	.		0.577	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1		NM_006576	Intron
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24463082	24463082	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr22:24463082G>C	ENST00000398319.2	+	16	2567	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.E678Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.E728Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	728					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.E728Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAACACCTGGAGTTTATGAC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											71.0	70.0	70.0					22																	24463082		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2182G>C	22.37:g.24463082G>C	ENSP00000381364:p.Glu728Gln	Somatic		WXS	Illumina HiSeq	Phase_I	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130552	0.94473	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.34472	1.36;1.36;1.36	5.41	5.41	0.78517	.	0.101211	0.64402	D	0.000003	T	0.53384	0.1793	L	0.58101	1.795	0.80722	D	1	D;D	0.59767	0.986;0.976	P;P	0.58721	0.844;0.703	T	0.48725	-0.9010	10	0.45353	T	0.12	.	18.6283	0.91349	0.0:0.0:1.0:0.0	.	678;728	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Q	728;678;728	ENSP00000263119:E728Q;ENSP00000384694:E678Q;ENSP00000381364:E728Q	ENSP00000263119:E728Q	E	+	1	0	CABIN1	22793082	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.419000	0.73345	2.717000	0.92951	0.650000	0.86243	GAG		0.567	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295	
CALU	813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128407619	128407619	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:128407619G>T	ENST00000249364.4	+	6	855	c.753G>T	c.(751-753)aaG>aaT	p.K251N	CALU_ENST00000449187.2_Missense_Mutation_p.K251N|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Missense_Mutation_p.K259N|CALU_ENST00000538546.1_Missense_Mutation_p.K100N|CALU_ENST00000535011.2_Intron|CALU_ENST00000542996.2_Missense_Mutation_p.K259N	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	251	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)	p.K251N(1)|p.K259N(1)		kidney(2)|large_intestine(3)|lung(5)	10						AGATGGACAAGGAAGAGACCA	0.483																																																	2	Substitution - Missense(2)	kidney(2)											171.0	158.0	162.0					7																	128407619		2203	4300	6503	SO:0001583	missense	813			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.753G>T	7.37:g.128407619G>T	ENSP00000249364:p.Lys251Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.105538|2.105538	0.37145|0.37145	.|.	.|.	ENSG00000128595|ENSG00000128595	ENST00000493278|ENST00000542996;ENST00000538546;ENST00000249364;ENST00000449187;ENST00000479257	.|T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47	5.44|5.44	3.31|3.31	0.37934|0.37934	.|EF-hand-like domain (1);	.|0.046101	.|0.85682	.|D	.|0.000000	.|T	.|0.55081	.|0.1898	M|M	0.65498|0.65498	2.005|2.005	0.52099|0.52099	D|D	0.999948|0.999948	.|D;B	.|0.54964	.|0.969;0.009	.|P;B	.|0.52856	.|0.711;0.005	.|T	.|0.52624	.|-0.8551	.|10	.|0.18710	.|T	.|0.47	-10.6168|-10.6168	7.6485|7.6485	0.28334|0.28334	0.2821:0.0:0.7179:0.0|0.2821:0.0:0.7179:0.0	.|.	.|259;251	.|D6QS48;O43852	.|.;CALU_HUMAN	X|N	83|259;100;251;251;259	.|ENSP00000438248:K259N;ENSP00000438994:K100N;ENSP00000249364:K251N;ENSP00000408838:K251N;ENSP00000420381:K259N	.|ENSP00000249364:K251N	G|K	+|+	1|3	0|2	CALU|CALU	128194855|128194855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.892000|0.892000	0.28322|0.28322	1.312000|1.312000	0.45043|0.45043	-0.251000|-0.251000	0.11542|0.11542	GGA|AAG		0.483	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1		NM_001219	
CDK8	1024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26923220	26923220	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr13:26923220G>A	ENST00000381527.3	+	3	719	c.216G>A	c.(214-216)gaG>gaA	p.E72E	CDK8_ENST00000536792.1_Silent_p.E72E	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E72E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TACTTCGAGAGCTTAAGCATC	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											225.0	202.0	210.0					13																	26923220		2203	4300	6503	SO:0001819	synonymous_variant	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.216G>A	13.37:g.26923220G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	37	CCDS9317.1																																																																																				0.383	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			
CDYL	9425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	4892566	4892566	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:4892566G>A	ENST00000328908.5	+	4	937	c.806G>A	c.(805-807)gGc>gAc	p.G269D	CDYL_ENST00000449732.2_Missense_Mutation_p.G83D|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.G215D|CDYL_ENST00000343762.5_Missense_Mutation_p.G83D			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	269	Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.G269D(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGGTGCCCGGCCCTGTGACT	0.642																																																	1	Substitution - Missense(1)	kidney(1)											41.0	48.0	46.0					6																	4892566		2203	4300	6503	SO:0001583	missense	9425			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.806G>A	6.37:g.4892566G>A	ENSP00000330512:p.Gly269Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37		.	.	.	.	.	.	.	.	.	.	G	3.406	-0.121193	0.06838	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.56444	0.9;0.52;0.46;0.46	5.79	3.81	0.43845	.	0.403908	0.27725	N	0.018112	T	0.17408	0.0418	L	0.31065	0.9	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.004	T	0.10359	-1.0633	9	.	.	.	.	7.8175	0.29269	0.0:0.1186:0.529:0.3523	.	215;269	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	D	269;215;83;83	ENSP00000330512:G269D;ENSP00000380718:G215D;ENSP00000394076:G83D;ENSP00000340908:G83D	.	G	+	2	0	CDYL	4837565	1.000000	0.71417	0.194000	0.23346	0.484000	0.33280	2.623000	0.46435	1.406000	0.46857	0.650000	0.86243	GGC		0.642	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1		NM_004824	
CHI3L1	1116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203148901	203148901	+	Missense_Mutation	SNP	G	G	C	rs371844437		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:203148901G>C	ENST00000255409.3	-	9	1124	c.999C>G	c.(997-999)agC>agG	p.S333R		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	333	Important for AKT1 activation and IL8 production. {ECO:0000250}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S333R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGCTTTTGACGCTTTCCTGGT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											182.0	153.0	163.0					1																	203148901		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.999C>G	1.37:g.203148901G>C	ENSP00000255409:p.Ser333Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.46|11.46	1.644516|1.644516	0.29246|0.29246	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000404436|ENST00000255409	.|T	.|0.10960	.|2.82	5.01|5.01	-4.14|-4.14	0.03892|0.03892	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.43875|0.43875	0.1267|0.1267	H|H	0.98754|0.98754	4.32|4.32	0.36239|0.36239	D|D	0.853132|0.853132	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.62941|0.62941	-0.6747|-0.6747	5|10	.|0.87932	.|D	.|0	-28.971|-28.971	11.7425|11.7425	0.51801|0.51801	0.6438:0.0:0.3562:0.0|0.6438:0.0:0.3562:0.0	.|.	.|69;333	.|B3KTE6;P36222	.|.;CH3L1_HUMAN	G|R	102|333	.|ENSP00000255409:S333R	.|ENSP00000255409:S333R	R|S	-|-	1|3	0|2	CHI3L1|CHI3L1	201415524|201415524	0.999000|0.999000	0.42202|0.42202	0.003000|0.003000	0.11579|0.11579	0.008000|0.008000	0.06430|0.06430	0.657000|0.657000	0.24963|0.24963	-0.669000|-0.669000	0.05289|0.05289	-0.339000|-0.339000	0.08088|0.08088	CGT|AGC		0.587	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1		NM_001276	
CKAP2	26586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53035798	53035798	+	Silent	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr13:53035798A>T	ENST00000378037.5	+	4	930	c.840A>T	c.(838-840)acA>acT	p.T280T	CKAP2_ENST00000490903.1_Silent_p.T231T|CKAP2_ENST00000258607.5_Silent_p.T279T|CKAP2_ENST00000378034.3_Silent_p.T279T	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.T279T(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CCAATGTTACAATCCGGAAAG	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											79.0	72.0	75.0					13																	53035798		2203	4300	6503	SO:0001819	synonymous_variant	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.840A>T	13.37:g.53035798A>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000378037.5	37	CCDS41893.1																																																																																				0.393	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			
CLDN14	23562	hgsc.bcm.edu;ucsc.edu	37	21	37833694	37833694	+	Silent	SNP	G	G	A	rs113350364	byFrequency	TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr21:37833694G>A	ENST00000399137.1	-	3	1166	c.300C>T	c.(298-300)atC>atT	p.I100I	AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000342108.2_Silent_p.I100I|CLDN14_ENST00000399135.1_Silent_p.I100I|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399139.1_Silent_p.I100I|CLDN14_ENST00000399136.1_Silent_p.I100I	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	100					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						ACTTCATCCCGATGACGGCGC	0.682													G|||	22	0.00439297	0.0008	0.0043	5008	,	,		18910	0.001		0.001	False		,,,				2504	0.0164																0								G	,,,,	10,4396	15.5+/-35.6	0,10,2193	51.0	50.0	50.0		300,300,300,300,300	-6.4	0.1	21	dbSNP_132	50	10,8588	5.7+/-21.5	0,10,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLDN14	NM_001146077.1,NM_001146078.1,NM_001146079.1,NM_012130.2,NM_144492.2	,,,,	0,20,6482	AA,AG,GG		0.1163,0.227,0.1538	,,,,	100/240,100/240,100/240,100/240,100/240	37833694	20,12984	2203	4299	6502	SO:0001819	synonymous_variant	23562			AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.300C>T	21.37:g.37833694G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000399137.1	37	CCDS13645.1																																																																																				0.682	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1		NM_144492	
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58594198	58594198	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr16:58594198T>G	ENST00000317147.5	-	17	2380	c.2048A>C	c.(2047-2049)aAg>aCg	p.K683T	CNOT1_ENST00000441024.2_Missense_Mutation_p.K683T|CNOT1_ENST00000569240.1_Missense_Mutation_p.K683T|CNOT1_ENST00000569732.1_5'Flank|SNORA50_ENST00000384225.2_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	683					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.K683T(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTGTCTGGCCTTATTCATAAC	0.423																																																	2	Substitution - Missense(2)	kidney(2)											220.0	169.0	186.0					16																	58594198		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2048A>C	16.37:g.58594198T>G	ENSP00000320949:p.Lys683Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593084	0.66219	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.18657	2.2;2.2	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	L	0.58101	1.795	0.80722	D	1	D;P;B	0.61080	0.989;0.483;0.418	D;B;B	0.72982	0.979;0.122;0.121	T	0.13656	-1.0501	9	.	.	.	.	15.9735	0.80040	0.0:0.0:0.0:1.0	.	683;683;683	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	683;112;683;683	ENSP00000320949:K683T;ENSP00000413113:K683T	.	K	-	2	0	CNOT1	57151699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.901000	0.87382	2.234000	0.73211	0.528000	0.53228	AAG		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284	
CPA4	51200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129938646	129938646	+	Silent	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:129938646A>T	ENST00000222482.4	+	2	157	c.129A>T	c.(127-129)ctA>ctT	p.L43L	CPA4_ENST00000445470.2_Silent_p.L43L|CPA4_ENST00000493259.1_Intron	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	43					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L43L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGTCAACTAGTGAATTCAA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											147.0	145.0	146.0					7																	129938646		2203	4300	6503	SO:0001819	synonymous_variant	51200			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.129A>T	7.37:g.129938646A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	CCDS5818.1																																																																																				0.388	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1		NM_016352	
DAAM1	23002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59834206	59834206	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr14:59834206C>A	ENST00000395125.1	+	24	2939	c.2916C>A	c.(2914-2916)ttC>ttA	p.F972L	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.F972L|DAAM1_ENST00000360909.3_Missense_Mutation_p.F962L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	972	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.F972L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGATGAGTTCTTTGGCATTT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											126.0	123.0	124.0					14																	59834206		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2916C>A	14.37:g.59834206C>A	ENSP00000378557:p.Phe972Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727563	0.96847	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.22539	1.95;1.95;1.95	5.87	5.87	0.94306	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.72576	2.205	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70016	0.947;0.967	T	0.26916	-1.0089	10	0.51188	T	0.08	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	962;972	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	962;972;972	ENSP00000354162:F962L;ENSP00000247170:F972L;ENSP00000378557:F972L	ENSP00000247170:F972L	F	+	3	2	DAAM1	58903959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.010000	0.70753	2.941000	0.99782	0.655000	0.94253	TTC		0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992	
DDX54	79039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113618759	113618759	+	Silent	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:113618759C>T	ENST00000306014.5	-	2	306	c.279G>A	c.(277-279)aaG>aaA	p.K93K	DDX54_ENST00000314045.7_Silent_p.K93K|Y_RNA_ENST00000364338.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	93					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.K93K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCCAGACTTCTTCTTCTTCT	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	85.0	86.0					12																	113618759		2203	4300	6503	SO:0001819	synonymous_variant	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.279G>A	12.37:g.113618759C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	CCDS31907.1																																																																																				0.617	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1		NM_024072	
DDX58	23586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	32488009	32488009	+	Silent	SNP	C	C	T	rs151092988		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:32488009C>T	ENST00000379883.2	-	8	1303	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	DDX58_ENST00000379882.1_Silent_p.P337P|DDX58_ENST00000542096.1_Silent_p.P311P|DDX58_ENST00000379868.1_Silent_p.P179P|DDX58_ENST00000545044.1_Silent_p.P179P	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	382	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.P382P(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCATATTGTACGGGTGTTGTT	0.393													c|||	1	0.000199681	0.0	0.0	5008	,	,		20768	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	165.0	169.0	167.0		1146	-3.6	1.0	9	dbSNP_134	167	0,8600		0,0,4300	no	coding-synonymous	DDX58	NM_014314.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		382/926	32488009	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23586			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1146G>A	9.37:g.32488009C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	CCDS6526.1																																																																																				0.393	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1		NM_014314	
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65959941	65959942	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:65959941_65959942delTC	ENST00000431932.2	-	28	5162_5163	c.4954_4955delGA	c.(4954-4956)gaafs	p.E1652fs	DENND4A_ENST00000443035.3_Frame_Shift_Del_p.E1695fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1652					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ACCTTCATTTTCCAATAAGCTT	0.416																																																	0																																										SO:0001589	frameshift_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4954_4955delGA	15.37:g.65959941_65959942delTC	ENSP00000396830:p.Glu1652fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Del	DEL	ENST00000431932.2	37	CCDS45285.1																																																																																				0.416	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848	
DNHD1	144132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6519865	6519865	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:6519865G>C	ENST00000527990.2	+	1	420	c.420G>C	c.(418-420)ttG>ttC	p.L140F	DNHD1_ENST00000354685.3_Missense_Mutation_p.L140F|DNHD1_ENST00000254579.6_Missense_Mutation_p.L140F|DNHD1_ENST00000477562.1_3'UTR			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	140					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.L140F(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACAGCTCTTTGTTAGACAGTG	0.602																																																	2	Substitution - Missense(2)	kidney(2)											144.0	146.0	145.0					11																	6519865		2201	4296	6497	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.420G>C	11.37:g.6519865G>C	ENSP00000436180:p.Leu140Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594148	0.86953	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.33865	1.39;2.34;1.39	5.48	5.48	0.80851	.	0.130684	0.35708	N	0.003025	T	0.48537	0.1505	L	0.32530	0.975	0.36529	D	0.870607	D;D	0.69078	0.997;0.996	P;D	0.66497	0.888;0.944	T	0.55921	-0.8064	10	0.59425	D	0.04	.	16.268	0.82600	0.0:0.0:1.0:0.0	.	140;140	Q96M86;Q96M86-4	DNHD1_HUMAN;.	F	140	ENSP00000254579:L140F;ENSP00000346716:L140F;ENSP00000436180:L140F	ENSP00000254579:L140F	L	+	3	2	DNHD1	6476441	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.361000	0.52306	2.568000	0.86640	0.563000	0.77884	TTG		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666	
EIF4ENIF1	56478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31850208	31850208	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr22:31850208G>A	ENST00000397525.1	-	10	1657	c.1434C>T	c.(1432-1434)gaC>gaT	p.D478D	EIF4ENIF1_ENST00000382180.2_Silent_p.D157D|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Silent_p.D315D|EIF4ENIF1_ENST00000330125.5_Silent_p.D478D|EIF4ENIF1_ENST00000397523.1_Silent_p.D478D	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	478						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D478D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCATGTCTCCGTCTTTCTTCA	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											195.0	153.0	167.0					22																	31850208		2203	4300	6503	SO:0001819	synonymous_variant	56478			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1434C>T	22.37:g.31850208G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	CCDS13898.1																																																																																				0.478	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1		NM_019843	
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22920016	22920016	+	Splice_Site	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:22920016G>C	ENST00000166244.3	+	7	1512		c.e7-1			NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.?(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCCGTGGCAGGACAAGGAGA	0.652																																																	1	Unknown(1)	kidney(1)											35.0	33.0	34.0					1																	22920016		2201	4299	6500	SO:0001630	splice_region_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1441-1G>C	1.37:g.22920016G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Splice_Site	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150926	0.78001	.	.	ENSG00000070886	ENST00000166244	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9826	0.71321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA8	22792603	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.458000	0.97634	2.169000	0.68431	0.591000	0.81541	.		0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526	Intron
ZACN	353174	broad.mit.edu;hgsc.bcm.edu	37	17	74077512	74077512	+	Intron	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:74077512A>G	ENST00000334586.5	+	6	752				EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel						ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGGCCGACAGAGGGCTGCTGG	0.657																																																	0													73.0	75.0	74.0					17																	74077512		2203	4300	6503	SO:0001627	intron_variant	23265			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.669+29A>G	17.37:g.74077512A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q2TB29|Q6ZWK3|Q86YW4	RNA	SNP	ENST00000334586.5	37	CCDS11740.2																																																																																				0.657	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2		NM_180990	
FAM71C	196472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100042363	100042363	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:100042363G>T	ENST00000324341.1	+	1	833	c.411G>T	c.(409-411)caG>caT	p.Q137H	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	137								p.Q137H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TAAAAAAACAGCTCCACCTGA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											73.0	73.0	73.0					12																	100042363		2203	4300	6503	SO:0001583	missense	196472				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.411G>T	12.37:g.100042363G>T	ENSP00000315247:p.Gln137His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791271	0.31685	.	.	ENSG00000180219	ENST00000324341	T	0.19806	2.12	3.83	1.96	0.26148	.	0.000000	0.50627	D	0.000106	T	0.44477	0.1295	M	0.87328	2.875	0.22918	N	0.998569	D	0.89917	1.0	D	0.97110	1.0	T	0.22068	-1.0227	9	.	.	.	-5.165	5.3898	0.16237	0.1136:0.2053:0.6811:0.0	.	137	Q8NEG0	FA71C_HUMAN	H	137	ENSP00000315247:Q137H	.	Q	+	3	2	FAM71C	98566494	0.094000	0.21725	0.934000	0.37439	0.196000	0.23810	0.608000	0.24223	0.563000	0.29222	0.555000	0.69702	CAG		0.463	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1		NM_153364	
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8175825	8175825	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr19:8175825G>A	ENST00000600128.1	-	34	4651	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F	FBN3_ENST00000270509.2_Missense_Mutation_p.L1413F|FBN3_ENST00000601739.1_Missense_Mutation_p.L1413F			Q75N90	FBN3_HUMAN	fibrillin 3	1413	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L1413F(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AATGCACAGAGGTTCCCTTGC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											151.0	121.0	131.0					19																	8175825		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4237C>T	19.37:g.8175825G>A	ENSP00000470498:p.Leu1413Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699203	0.15106	.	.	ENSG00000142449	ENST00000270509	D	0.92099	-2.97	3.05	-4.4	0.03600	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.128207	0.50627	U	0.000120	D	0.84092	0.5396	L	0.48260	1.515	0.26022	N	0.981856	B	0.06786	0.001	B	0.10450	0.005	T	0.71724	-0.4506	10	0.54805	T	0.06	.	4.69	0.12776	0.2383:0.0:0.2057:0.556	.	1413	Q75N90	FBN3_HUMAN	F	1413	ENSP00000270509:L1413F	ENSP00000270509:L1413F	L	-	1	0	FBN3	8081825	1.000000	0.71417	0.011000	0.14972	0.055000	0.15305	1.122000	0.31295	-0.345000	0.08325	0.462000	0.41574	CTC		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	
FEM1C	56929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	114878826	114878826	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:114878826G>A	ENST00000274457.3	-	2	926	c.365C>T	c.(364-366)gCt>gTt	p.A122V		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	122					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.A122V(1)		breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GAAACACGCAGCTCGAAGAGG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											110.0	107.0	108.0					5																	114878826		2202	4300	6502	SO:0001583	missense	56929				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.365C>T	5.37:g.114878826G>A	ENSP00000274457:p.Ala122Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510614	0.96386	.	.	ENSG00000145780	ENST00000274457	T	0.63744	-0.06	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	N	0.10733	0.035	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.66854	-0.5818	10	0.31617	T	0.26	-16.5832	19.4166	0.94703	0.0:0.0:1.0:0.0	.	122	Q96JP0	FEM1C_HUMAN	V	122	ENSP00000274457:A122V	ENSP00000274457:A122V	A	-	2	0	FEM1C	114906725	1.000000	0.71417	0.520000	0.27837	0.982000	0.71751	9.864000	0.99589	2.588000	0.87417	0.585000	0.79938	GCT		0.458	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3		NM_020177	
FLG	2312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152286259	152286260	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:152286259_152286260delTG	ENST00000368799.1	-	3	1137_1138	c.1102_1103delCA	c.(1102-1104)cagfs	p.Q368fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	368	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATGCAGTCTGTCCACGAGAG	0.564									Ichthyosis																																								0																																										SO:0001589	frameshift_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1102_1103delCA	1.37:g.152286259_152286260delTG	ENSP00000357789:p.Gln368fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	CCDS30860.1																																																																																				0.564	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016	
FLG	2312	hgsc.bcm.edu	37	1	152286260	152286260	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:152286260G>C	ENST00000368799.1	-	3	1137	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	368	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGCAGTCTGTCCACGAGAG	0.562									Ichthyosis																																								0													306.0	298.0	301.0					1																	152286260		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1102C>G	1.37:g.152286260G>C	ENSP00000357789:p.Gln368Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.40	1.340219	0.24339	.	.	ENSG00000143631	ENST00000368799	T	0.00691	5.84	3.5	-6.72	0.01755	.	.	.	.	.	T	0.00356	0.0011	M	0.63428	1.95	0.09310	N	1	P	0.52061	0.95	P	0.51355	0.667	T	0.50558	-0.8814	9	0.02654	T	1	-0.0284	2.2646	0.04076	0.0979:0.2708:0.2207:0.4106	.	368	P20930	FILA_HUMAN	E	368	ENSP00000357789:Q368E	ENSP00000357789:Q368E	Q	-	1	0	FLG	150552884	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.054000	0.11826	-0.860000	0.04099	0.400000	0.26472	CAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016	
FOXR1	283150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118849549	118849549	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:118849549C>T	ENST00000317011.3	+	2	344	c.119C>T	c.(118-120)cCc>cTc	p.P40L		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	40					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P40L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAGAAAAAACCCAACCCTGAT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											127.0	123.0	125.0					11																	118849549		2200	4295	6495	SO:0001583	missense	283150			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.119C>T	11.37:g.118849549C>T	ENSP00000314806:p.Pro40Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	CCDS31688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.128548|2.128548	0.37533|0.37533	.|.	.|.	ENSG00000176302|ENSG00000176302	ENST00000317011|ENST00000533282	D|.	0.94931|.	-3.56|.	4.55|4.55	0.577|0.577	0.17385|0.17385	.|.	0.232101|0.232101	0.23949|0.23949	N|N	0.042974|0.042974	T|T	0.37758|0.37758	0.1015|0.1015	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|7	0.51188|0.16420	T|T	0.08|0.52	.|.	3.5447|3.5447	0.07824|0.07824	0.1749:0.5439:0.0:0.2812|0.1749:0.5439:0.0:0.2812	.|.	40|.	Q6PIV2|.	FOXR1_HUMAN|.	L|S	40|21	ENSP00000314806:P40L|.	ENSP00000314806:P40L|ENSP00000432358:P21S	P|P	+|+	2|1	0|0	FOXR1|FOXR1	118354759|118354759	0.073000|0.073000	0.21202|0.21202	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.700000|1.700000	0.37815|0.37815	0.125000|0.125000	0.18397|0.18397	-0.136000|-0.136000	0.14681|0.14681	CCC|CCA		0.473	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1		NM_181721	
FOXR1	283150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118849551	118849551	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:118849551A>T	ENST00000317011.3	+	2	346	c.121A>T	c.(121-123)Aac>Tac	p.N41Y		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	41					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N41Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAAAAAACCCAACCCTGATAA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											126.0	122.0	124.0					11																	118849551		2200	4295	6495	SO:0001583	missense	283150			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.121A>T	11.37:g.118849551A>T	ENSP00000314806:p.Asn41Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	A	9.832	1.188690	0.21954	.	.	ENSG00000176302	ENST00000317011	D	0.94931	-3.56	4.55	0.917	0.19380	.	0.435145	0.18996	N	0.125469	D	0.89382	0.6699	L	0.60455	1.87	0.09310	N	1	B	0.34015	0.435	B	0.31290	0.127	T	0.81854	-0.0741	10	0.56958	D	0.05	.	1.4126	0.02295	0.5243:0.2078:0.0992:0.1686	.	41	Q6PIV2	FOXR1_HUMAN	Y	41	ENSP00000314806:N41Y	ENSP00000314806:N41Y	N	+	1	0	FOXR1	118354761	0.050000	0.20438	0.000000	0.03702	0.001000	0.01503	0.830000	0.27462	0.140000	0.18849	0.533000	0.62120	AAC		0.478	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1		NM_181721	
FSCN1	6624	broad.mit.edu;hgsc.bcm.edu	37	7	5632742	5632742	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:5632742G>C	ENST00000382361.3	+	1	289	c.175G>C	c.(175-177)Gcc>Ccc	p.A59P	FSCN1_ENST00000340250.6_Intron	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	59					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.A59P(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GGGCAGCGCGGCCGTGTGCCT	0.701																																																	1	Substitution - Missense(1)	kidney(1)											9.0	9.0	9.0					7																	5632742		2141	4199	6340	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.175G>C	7.37:g.5632742G>C	ENSP00000371798:p.Ala59Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792352	0.70452	.	.	ENSG00000075618	ENST00000382361	T	0.23950	1.88	3.37	3.37	0.38596	Fascin domain (1);Actin cross-linking (1);	0.151741	0.43747	D	0.000529	T	0.44180	0.1281	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.43750	-0.9372	10	0.54805	T	0.06	-3.9901	12.2737	0.54721	0.0:0.0:1.0:0.0	.	59	Q16658	FSCN1_HUMAN	P	59	ENSP00000371798:A59P	ENSP00000371798:A59P	A	+	1	0	FSCN1	5599268	0.849000	0.29639	0.998000	0.56505	0.988000	0.76386	3.352000	0.52239	1.729000	0.51567	0.462000	0.41574	GCC		0.701	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3		NM_003088	
GAL3ST1	9514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30952062	30952062	+	Frame_Shift_Del	DEL	C	C	-	rs73394272	byFrequency	TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr22:30952062delC	ENST00000402321.1	-	3	467	c.150delG	c.(148-150)gcgfs	p.A50fs	GAL3ST1_ENST00000406361.1_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000406955.1_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000402369.1_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000338911.5_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000401975.1_Frame_Shift_Del_p.A50fs|GAL3ST1_ENST00000443111.2_Frame_Shift_Del_p.A50fs			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	50					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAGAGCAGGACGCTGCGGCCT	0.662																																																	0													24.0	28.0	27.0					22																	30952062		2195	4285	6480	SO:0001589	frameshift_variant	9514			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.150delG	22.37:g.30952062delC	ENSP00000385735:p.Ala50fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96C63	Frame_Shift_Del	DEL	ENST00000402321.1	37	CCDS13879.1																																																																																				0.662	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1		NM_004861	
GBF1	8729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104111114	104111114	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr10:104111114C>G	ENST00000369983.3	+	5	657	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	133					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.L133V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGAAGTTGTCCTGATGAAAAT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											94.0	81.0	85.0					10																	104111114		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.397C>G	10.37:g.104111114C>G	ENSP00000359000:p.Leu133Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127875	0.56721	.	.	ENSG00000107862	ENST00000369983	T	0.71579	-0.58	5.98	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84211	0.5422	M	0.90595	3.13	0.53688	D	0.999974	D;D;D;D	0.76494	0.997;0.995;0.999;0.992	D;D;D;P	0.80764	0.938;0.973;0.994;0.901	D	0.85142	0.0981	10	0.56958	D	0.05	-7.1868	7.0357	0.24993	0.0:0.7173:0.0:0.2827	.	133;133;133;133	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	133	ENSP00000359000:L133V	ENSP00000359000:L133V	L	+	1	2	GBF1	104101104	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.570000	0.36439	1.549000	0.49425	0.591000	0.81541	CTG		0.537	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			
GP6	51206	hgsc.bcm.edu	37	19	55526103	55526104	+	3'UTR	INS	-	-	CAGA	rs59110861|rs138680589|rs375520233		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr19:55526103_55526104insCAGA	ENST00000417454.1	-	0	1232_1233				CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000310373.3_Frame_Shift_Ins_p.P404fs|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		agacagagaggcagacagacag	0.594																																																	0																																										SO:0001624	3_prime_UTR_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.*186->TCTG	19.37:g.55526108_55526111dupCAGA		Somatic		WXS	Illumina HiSeq	Phase_I	Q9HCN7|Q9UIF2	Frame_Shift_Ins	INS	ENST00000417454.1	37	CCDS46184.1																																																																																				0.594	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			
HIVEP1	3096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	12164030	12164030	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:12164030T>C	ENST00000379388.2	+	9	7825	c.7493T>C	c.(7492-7494)aTt>aCt	p.I2498T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.I363T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I2498T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACCGTCAATATTGTAGGCCTA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											69.0	74.0	72.0					6																	12164030		1971	4161	6132	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7493T>C	6.37:g.12164030T>C	ENSP00000368698:p.Ile2498Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055151	0.55325	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.37235	2.71;1.21	5.92	5.92	0.95590	.	0.272253	0.20242	N	0.096271	T	0.41673	0.1169	M	0.66939	2.045	0.42333	D	0.992307	D	0.59357	0.985	P	0.52159	0.691	T	0.44997	-0.9291	10	0.87932	D	0	-14.7357	16.3662	0.83325	0.0:0.0:0.0:1.0	.	2498	P15822	ZEP1_HUMAN	T	2498;363;480	ENSP00000368698:I2498T;ENSP00000445617:I363T	ENSP00000368698:I2498T	I	+	2	0	HIVEP1	12272016	1.000000	0.71417	0.013000	0.15412	0.061000	0.15899	7.342000	0.79310	2.274000	0.75844	0.533000	0.62120	ATT		0.522	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114	
INSL6	11172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5185530	5185530	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:5185530C>T	ENST00000381641.3	-	1	138	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	25					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.D25N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CTGCTGATGTCGCTCAGTTCA	0.587																																																	1	Substitution - Missense(1)	kidney(1)											49.0	45.0	46.0					9																	5185530		2203	4300	6503	SO:0001583	missense	11172			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.73G>A	9.37:g.5185530C>T	ENSP00000371054:p.Asp25Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682548	0.47991	.	.	ENSG00000120210	ENST00000381641	T	0.49720	0.77	4.25	-0.261	0.12963	Insulin-like (2);	1.736560	0.03111	N	0.162492	T	0.36441	0.0967	L	0.56769	1.78	0.09310	N	1	P	0.35628	0.513	B	0.23150	0.044	T	0.23154	-1.0196	10	0.49607	T	0.09	8.1109	0.975	0.01423	0.1767:0.4213:0.1723:0.2297	.	25	Q9Y581	INSL6_HUMAN	N	25	ENSP00000371054:D25N	ENSP00000371054:D25N	D	-	1	0	INSL6	5175530	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.983000	0.03759	-0.024000	0.13941	0.650000	0.86243	GAC		0.587	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3		NM_007179	
ITIH4	3700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52854657	52854657	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr3:52854657delG	ENST00000266041.4	-	13	1920	c.1824delC	c.(1822-1824)cccfs	p.P608fs	ITIH4_ENST00000434759.3_Frame_Shift_Del_p.P520fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.P608fs|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.P608fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.P608fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	608					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGCCTTCCATGGGCTTCTCAG	0.547											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													110.0	101.0	104.0					3																	52854657		2203	4300	6503	SO:0001589	frameshift_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1824delC	3.37:g.52854657delG	ENSP00000266041:p.Pro608fs	Somatic	988	WXS	Illumina HiSeq	Phase_I	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	ENST00000266041.4	37	CCDS2865.1																																																																																				0.547	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1		NM_002218	
KBTBD6	89890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41704758	41704758	+	Silent	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr13:41704758G>A	ENST00000379485.1	-	1	2124	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	KBTBD6_ENST00000499385.2_Silent_p.L564L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	630								p.L630L(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTTCTTCAGTGAGGAAACTCT	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											126.0	115.0	119.0					13																	41704758		2203	4300	6503	SO:0001819	synonymous_variant	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1890C>T	13.37:g.41704758G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	CCDS9376.1																																																																																				0.438	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903	
KIAA1468	57614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	59949659	59949659	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr18:59949659C>G	ENST00000398130.2	+	25	3467	c.3235C>G	c.(3235-3237)Ccc>Gcc	p.P1079A	KIAA1468_ENST00000256858.6_Missense_Mutation_p.P1113A	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1079								p.P1079A(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAACGCAGAACCCAGGTTCCG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											165.0	159.0	161.0					18																	59949659		2203	4300	6503	SO:0001583	missense	57614			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3235C>G	18.37:g.59949659C>G	ENSP00000381198:p.Pro1079Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000398130.2	37	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763474	0.69763	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.66099	-0.19;-0.19	5.53	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.105101	0.64402	D	0.000002	T	0.74589	0.3736	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.885	T	0.74275	-0.3718	9	.	.	.	-8.1468	15.49	0.75597	0.1396:0.8604:0.0:0.0	.	1113;1079	Q9P260-2;Q9P260	.;K1468_HUMAN	A	1079;1113	ENSP00000381198:P1079A;ENSP00000256858:P1113A	.	P	+	1	0	KIAA1468	58100639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.541000	0.82084	1.278000	0.44430	0.655000	0.94253	CCC		0.413	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1		NM_020854	
KLRC2	3822	broad.mit.edu;hgsc.bcm.edu	37	12	10584769	10584769	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:10584769C>G	ENST00000381902.2	-	5	526	c.520G>C	c.(520-522)Ggt>Cgt	p.G174R	NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.G174R|KLRC2_ENST00000536833.2_Missense_Mutation_p.G115R	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G174R(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CGAAACACACCAATCCATGAG	0.289																																																	1	Substitution - Missense(1)	kidney(1)											43.0	42.0	42.0					12																	10584769		2055	4143	6198	SO:0001583	missense	3822			X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"""Killer cell lectin-like receptors"", ""CD molecules"""	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.520G>C	12.37:g.10584769C>G	ENSP00000371327:p.Gly174Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O43802|Q52M74|Q9NR42	Missense_Mutation	SNP	ENST00000381902.2	37	CCDS31745.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.74|11.74	1.728625|1.728625	0.30593|0.30593	.|.	.|.	ENSG00000205809|ENSG00000205809	ENST00000381902;ENST00000381901;ENST00000396433;ENST00000536833|ENST00000537017	T;T;T|.	0.67865|.	-0.29;-0.29;-0.29|.	2.53|2.53	1.61|1.61	0.23674|0.23674	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	0.447059|.	0.16650|.	N|.	0.205264|.	T|T	0.73830|0.73830	0.3637|0.3637	H|H	0.97158|0.97158	3.95|3.95	0.25161|0.25161	N|N	0.990358|0.990358	D;D|.	0.89917|.	1.0;0.989|.	D;P|.	0.91635|.	0.999;0.87|.	T|T	0.64424|0.64424	-0.6411|-0.6411	10|5	0.87932|.	D|.	0|.	.|.	5.7965|5.7965	0.18389|0.18389	0.0:0.8264:0.0:0.1736|0.0:0.8264:0.0:0.1736	.|.	160;174|.	Q3KQS7;P26717|.	.;NKG2C_HUMAN|.	R|F	174;174;67;115|51	ENSP00000371327:G174R;ENSP00000371326:G174R;ENSP00000444754:G115R|.	ENSP00000371326:G174R|.	G|L	-|-	1|3	0|2	KLRC2|KLRC2	10476036|10476036	0.046000|0.046000	0.20272|0.20272	0.035000|0.035000	0.18076|0.18076	0.035000|0.035000	0.12851|0.12851	0.152000|0.152000	0.16302|0.16302	0.357000|0.357000	0.24183|0.24183	0.484000|0.484000	0.47621|0.47621	GGT|TTG		0.289	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400111.1		NM_002260	
KRTAP4-12	83755	broad.mit.edu;hgsc.bcm.edu	37	17	39279933	39279933	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:39279933A>T	ENST00000394014.1	-	1	486	c.442T>A	c.(442-444)Tcc>Acc	p.S148T		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	148	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.S148T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cagctgctggagatgcagcag	0.662																																																	1	Substitution - Missense(1)	kidney(1)											18.0	24.0	22.0					17																	39279933		2197	4286	6483	SO:0001583	missense	83755			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.442T>A	17.37:g.39279933A>T	ENSP00000377582:p.Ser148Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	7.429	0.638252	0.14386	.	.	ENSG00000213416	ENST00000394014	T	0.01629	4.72	5.07	3.91	0.45181	.	.	.	.	.	T	0.01730	0.0055	N	0.17345	0.48	0.20926	N	0.99983	P	0.39809	0.689	B	0.41202	0.35	T	0.54814	-0.8237	9	0.28530	T	0.3	.	9.9691	0.41743	0.8299:0.1701:0.0:0.0	.	148	Q9BQ66	KR412_HUMAN	T	148	ENSP00000377582:S148T	ENSP00000377582:S148T	S	-	1	0	KRTAP4-12	36533459	0.000000	0.05858	0.922000	0.36590	0.167000	0.22549	-0.903000	0.04084	2.048000	0.60808	0.391000	0.25812	TCC		0.662	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			
CRSP8P	441089	broad.mit.edu	37	5	79646840	79646840	+	IGR	DEL	T	T	-	rs398093513|rs34240292|rs60187147|rs574131513	byFrequency	TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:79646840delT								SPZ1 (29179 upstream) : RNU6-211P (14704 downstream)																							GCGTGGGGGCTTACTGCCGGC	0.632													T|TT|T|insertion	3039	0.606829	0.5741	0.5144	5008	,	,		16148	0.8482		0.4364	False		,,,				2504	0.6431																0																																										SO:0001628	intergenic_variant	0																															5.37:g.79646840delT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.632									
LRP11	84918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150164137	150164138	+	Missense_Mutation	DNP	CG	CG	TA	rs374603588		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:150164137_150164138CG>TA	ENST00000239367.2	-	3	899_900	c.894_895CG>TA	c.(892-897)cgCGca>cgTAca	p.A299T	LRP11_ENST00000367368.2_Missense_Mutation_p.A299T|LRP11_ENST00000546019.1_Missense_Mutation_p.A44T	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	299	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)		p.A299T(3)|p.R298R(1)		cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GAGTAGGCTGCGCGAAGCACTG	0.589																																																	4	Substitution - Missense(3)|Substitution - coding silent(1)	kidney(3)|large_intestine(1)																																								SO:0001583	missense	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.894_895delinsTA	6.37:g.150164137_150164138delinsTA	ENSP00000239367:p.Ala299Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYC0|Q96SN6	Missense_Mutation|Silent	SNP	ENST00000239367.2	37	CCDS5220.1																																																																																				0.589	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1		NM_032832	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141643767	141643767	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:141643767G>A	ENST00000389484.3	-	24	4875	c.3904C>T	c.(3904-3906)Ctt>Ttt	p.L1302F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1302					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L1302F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAATAAAGTAAACTTTGA	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	kidney(1)											74.0	76.0	76.0					2																	141643767		2202	4298	6500	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3904C>T	2.37:g.141643767G>A	ENSP00000374135:p.Leu1302Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271591	0.80469	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97870	-3.33;-4.58	5.68	5.68	0.88126	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.98713	0.9568	M	0.89414	3.03	0.53005	D	0.999961	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.98766	1.0726	10	0.48119	T	0.1	.	12.6292	0.56646	0.1179:0.0:0.8821:0.0	.	485;1302	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	F	1302;1240;447	ENSP00000374135:L1302F;ENSP00000413239:L447F	ENSP00000374135:L1302F	L	-	1	0	LRP1B	141360237	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.559000	0.73946	2.673000	0.90976	0.650000	0.86243	CTT		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
MAML1	9794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179193074	179193074	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:179193074C>G	ENST00000292599.3	+	2	1326	c.1063C>G	c.(1063-1065)Cgg>Ggg	p.R355G	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.R355G(1)|p.R392G(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCAGCCCCGGGCGGACAA	0.622																																																	2	Substitution - Missense(2)	kidney(2)											35.0	37.0	36.0					5																	179193074		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1063C>G	5.37:g.179193074C>G	ENSP00000292599:p.Arg355Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	0.282	-0.985879	0.02180	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.22945	1.93	4.93	3.13	0.36017	.	0.449428	0.22695	N	0.056772	T	0.07143	0.0181	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.36601	-0.9741	10	0.16896	T	0.51	-1.2117	6.3884	0.21574	0.2417:0.1336:0.6247:0.0	.	392;355	Q59GH4;Q92585	.;MAML1_HUMAN	G	355;392	ENSP00000292599:R355G	ENSP00000292599:R355G	R	+	1	2	MAML1	179125680	0.034000	0.19679	0.057000	0.19452	0.819000	0.46315	0.166000	0.16583	0.143000	0.18926	-0.371000	0.07208	CGG		0.622	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2		NM_014757	
MED13	9969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60038959	60038959	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:60038959C>G	ENST00000397786.2	-	22	5322	c.5246G>C	c.(5245-5247)aGa>aCa	p.R1749T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1749					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R1749T(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATCAGGACTTCTAAGGGCAGT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											98.0	97.0	97.0					17																	60038959		1871	4098	5969	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5246G>C	17.37:g.60038959C>G	ENSP00000380888:p.Arg1749Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952251	0.34471	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	5.34	4.14	0.48551	.	0.148295	0.64402	D	0.000014	T	0.76543	0.4002	L	0.43152	1.355	0.34326	D	0.687131	B	0.17465	0.022	B	0.22152	0.038	T	0.76460	-0.2951	10	0.66056	D	0.02	-7.2825	9.1563	0.36994	0.0:0.1702:0.0:0.8298	.	1749	Q9UHV7	MED13_HUMAN	T	1749;1748	ENSP00000380888:R1749T	ENSP00000262436:R1748T	R	-	2	0	MED13	57393741	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.797000	0.38804	0.737000	0.32582	-0.218000	0.12543	AGA		0.393	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121	
MED18	54797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28661113	28661113	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:28661113T>A	ENST00000373842.4	+	3	468	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	MED18_ENST00000398997.2_Missense_Mutation_p.Y87N|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	87						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Y87N(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		GCATCTGCGCTACCTGGGACA	0.577																																																	2	Substitution - Missense(2)	kidney(2)											134.0	145.0	141.0					1																	28661113		2203	4300	6503	SO:0001583	missense	54797			BC002694	CCDS322.1	1p35.3	2007-07-30	2007-07-30		ENSG00000130772	ENSG00000130772			25944	protein-coding gene	gene with protein product		612384	"""mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae)"""			15175163	Standard	NM_001127350		Approved	FLJ20045, p28b	uc009vtg.3	Q9BUE0	OTTHUMG00000003537	ENST00000373842.4:c.259T>A	1.37:g.28661113T>A	ENSP00000362948:p.Tyr87Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPM1|Q9NXU9	Missense_Mutation	SNP	ENST00000373842.4	37	CCDS322.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859286	0.91433	.	.	ENSG00000130772	ENST00000373842;ENST00000398997	.	.	.	5.75	5.75	0.90469	Mediator complex, subunit Med18, metazoa/fungi (1);	0.058184	0.64402	D	0.000001	T	0.76097	0.3940	M	0.78049	2.395	0.34823	D	0.738858	D	0.89917	1.0	D	0.91635	0.999	D	0.84736	0.0748	9	0.87932	D	0	-16.5637	13.9886	0.64350	0.0:0.0:0.0:1.0	.	87	Q9BUE0	MED18_HUMAN	N	87	.	ENSP00000362948:Y87N	Y	+	1	0	MED18	28533700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.645000	0.83430	2.202000	0.70862	0.533000	0.62120	TAC		0.577	MED18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009856.1		NM_017638	
MYCN	4613	broad.mit.edu;hgsc.bcm.edu	37	2	16085629	16085629	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:16085629G>A	ENST00000281043.3	+	3	1102	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	269	Asp/Glu-rich (acidic).				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E269K(1)|p.E269*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			tgaagatgatgaagaggaaga	0.423			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	2	Substitution - Missense(1)|Substitution - Nonsense(1)	urinary_tract(1)|kidney(1)											80.0	64.0	69.0					2																	16085629		2203	4300	6503	SO:0001583	missense	4613			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.805G>A	2.37:g.16085629G>A	ENSP00000281043:p.Glu269Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198005	0.79015	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.29655	1.56	4.61	4.61	0.57282	Transcription regulator Myc, N-terminal (1);	0.659654	0.14692	U	0.304088	T	0.56217	0.1970	M	0.81682	2.555	0.80722	D	1	D	0.61697	0.99	P	0.59487	0.858	T	0.62581	-0.6824	10	0.72032	D	0.01	-15.9156	17.4339	0.87546	0.0:0.0:1.0:0.0	.	269	P04198	MYCN_HUMAN	K	269;187	ENSP00000281043:E269K	ENSP00000281043:E269K	E	+	1	0	MYCN	16003080	1.000000	0.71417	0.598000	0.28837	0.935000	0.57460	9.276000	0.95745	2.301000	0.77427	0.561000	0.74099	GAA		0.423	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2		NM_005378	
MYO7A	4647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76893001	76893001	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:76893001T>G	ENST00000409709.3	+	24	3181	c.2909T>G	c.(2908-2910)cTg>cGg	p.L970R	MYO7A_ENST00000409893.1_Missense_Mutation_p.L970R|MYO7A_ENST00000409619.2_Missense_Mutation_p.L959R|MYO7A_ENST00000458637.2_Missense_Mutation_p.L970R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	970					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.L970R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTCAGGACCTGGAGCGAGGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											47.0	56.0	53.0					11																	76893001		2075	4195	6270	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2909T>G	11.37:g.76893001T>G	ENSP00000386331:p.Leu970Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.253073	0.80135	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419;ENST00000458169	D;D;D;D;D	0.89415	-2.47;-2.51;-2.47;-2.5;-2.44	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000007	D	0.94761	0.8309	M	0.84585	2.705	0.80722	D	1	D;D;D;P	0.89917	1.0;0.999;1.0;0.782	D;D;D;B	0.85130	0.99;0.982;0.997;0.346	D	0.95182	0.8300	10	0.56958	D	0.05	.	15.3587	0.74453	0.0:0.0:0.0:1.0	.	970;959;970;970	B9A012;B9A011;F8VUN5;Q13402	.;.;.;MYO7A_HUMAN	R	970;970;970;959;181;969;969;846;969;151	ENSP00000386331:L970R;ENSP00000386689:L970R;ENSP00000392185:L970R;ENSP00000386635:L959R;ENSP00000417017:L151R	ENSP00000345075:L846R	L	+	2	0	MYO7A	76570649	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.636000	0.83301	2.028000	0.59812	0.448000	0.29417	CTG		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		NM_000260	
NAF1	92345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	164050071	164050071	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr4:164050071G>T	ENST00000274054.2	-	8	1656	c.1463C>A	c.(1462-1464)tCt>tAt	p.S488Y	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	488					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S488Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCCAAAATGAGAATTACTATC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											22.0	24.0	24.0					4																	164050071		2186	4266	6452	SO:0001583	missense	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1463C>A	4.37:g.164050071G>T	ENSP00000274054:p.Ser488Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323726	0.41096	.	.	ENSG00000145414	ENST00000274054	T	0.37752	1.18	3.84	3.84	0.44239	.	0.536830	0.18152	N	0.150073	T	0.28632	0.0709	L	0.34521	1.04	0.30947	N	0.725217	P	0.50943	0.94	B	0.41813	0.367	T	0.32745	-0.9895	10	0.72032	D	0.01	-7.9955	11.5823	0.50898	0.0:0.0:1.0:0.0	.	488	Q96HR8	NAF1_HUMAN	Y	488	ENSP00000274054:S488Y	ENSP00000274054:S488Y	S	-	2	0	NAF1	164269521	0.964000	0.33143	0.570000	0.28473	0.991000	0.79684	1.981000	0.40628	2.431000	0.82371	0.655000	0.94253	TCT		0.428	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2		NM_138386	
NLRP12	91662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54313706	54313706	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr19:54313706C>A	ENST00000324134.6	-	3	1375	c.1207G>T	c.(1207-1209)Gtc>Ttc	p.V403F	NLRP12_ENST00000391775.3_Missense_Mutation_p.V403F|NLRP12_ENST00000535162.1_Missense_Mutation_p.V403F|NLRP12_ENST00000345770.5_Missense_Mutation_p.V403F|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403F|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403F|NLRP12_ENST00000391773.1_Missense_Mutation_p.V403F|NLRP12_ENST00000391772.1_Missense_Mutation_p.V403F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.V403F(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACCAGGGGGACGAAGCACATG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											159.0	154.0	156.0					19																	54313706		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1207G>T	19.37:g.54313706C>A	ENSP00000319377:p.Val403Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481999	0.44147	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.64	3.59	0.41128	NACHT nucleoside triphosphatase (1);	0.000000	0.38897	N	0.001528	D	0.91476	0.7309	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.64830	0.994;0.989;0.994;0.992	P;P;P;P	0.61070	0.842;0.832;0.879;0.883	D	0.91161	0.4961	10	0.87932	D	0	.	7.4752	0.27371	0.0:0.8:0.0:0.2	.	403;403;403;403	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	F	403	ENSP00000319377:V403F;ENSP00000438030:V403F;ENSP00000340473:V403F;ENSP00000346231:V403F;ENSP00000375655:V403F;ENSP00000375653:V403F;ENSP00000375652:V403F	ENSP00000319377:V403F	V	-	1	0	NLRP12	59005518	0.051000	0.20477	0.016000	0.15963	0.572000	0.35998	0.622000	0.24433	1.091000	0.41335	0.485000	0.47835	GTC		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1		NM_144687	
NLRP12	91662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54313711	54313711	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr19:54313711C>T	ENST00000324134.6	-	3	1370	c.1202G>A	c.(1201-1203)tGc>tAc	p.C401Y	NLRP12_ENST00000391775.3_Missense_Mutation_p.C401Y|NLRP12_ENST00000535162.1_Missense_Mutation_p.C401Y|NLRP12_ENST00000345770.5_Missense_Mutation_p.C401Y|NLRP12_ENST00000354278.3_Missense_Mutation_p.C401Y|NLRP12_ENST00000351894.4_Missense_Mutation_p.C401Y|NLRP12_ENST00000391773.1_Missense_Mutation_p.C401Y|NLRP12_ENST00000391772.1_Missense_Mutation_p.C401Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	401	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.C401Y(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGGACGAAGCACATGGTGAA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											170.0	163.0	165.0					19																	54313711		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1202G>A	19.37:g.54313711C>T	ENSP00000319377:p.Cys401Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441384	0.63067	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	4.64	4.64	0.57946	NACHT nucleoside triphosphatase (1);	0.000000	0.47093	D	0.000258	D	0.95519	0.8544	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	D	0.96921	0.9674	10	0.87932	D	0	.	15.4217	0.75018	0.0:1.0:0.0:0.0	.	401;401;401;401	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Y	401	ENSP00000319377:C401Y;ENSP00000438030:C401Y;ENSP00000340473:C401Y;ENSP00000346231:C401Y;ENSP00000375655:C401Y;ENSP00000375653:C401Y;ENSP00000375652:C401Y	ENSP00000319377:C401Y	C	-	2	0	NLRP12	59005523	1.000000	0.71417	0.372000	0.25991	0.655000	0.38815	5.100000	0.64560	2.315000	0.78130	0.485000	0.47835	TGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1		NM_144687	
NPHP3	27031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132419270	132419270	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr3:132419270A>G	ENST00000337331.5	-	11	1737	c.1651T>C	c.(1651-1653)Tcc>Ccc	p.S551P	NPHP3_ENST00000326682.8_Missense_Mutation_p.S551P	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	551					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.S551P(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGTTGGGGGAATTCTTCTGT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											77.0	84.0	82.0					3																	132419270		2203	4300	6503	SO:0001583	missense	27031			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1651T>C	3.37:g.132419270A>G	ENSP00000338766:p.Ser551Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690620	0.68271	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	T;T	0.80738	-1.41;-1.2	5.8	3.23	0.37069	.	0.103264	0.64402	D	0.000002	T	0.78078	0.4227	L	0.47716	1.5	0.80722	D	1	P	0.43633	0.813	P	0.47891	0.56	T	0.73329	-0.4017	10	0.24483	T	0.36	-4.0962	12.0777	0.53653	0.7282:0.2718:0.0:0.0	.	551	Q7Z494	NPHP3_HUMAN	P	551	ENSP00000319909:S551P;ENSP00000338766:S551P	ENSP00000319909:S551P	S	-	1	0	NPHP3	133901960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.868000	0.69605	0.983000	0.38602	0.528000	0.53228	TCC		0.363	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2		NM_153240	
NUP160	23279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	47833875	47833875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:47833875delT	ENST00000378460.2	-	16	2105	c.2059delA	c.(2059-2061)atgfs	p.M687fs	NUP160_ENST00000531016.1_5'Flank|NUP160_ENST00000530326.1_Frame_Shift_Del_p.M573fs|NUP160_ENST00000528501.1_Frame_Shift_Del_p.M251fs|NUP160_ENST00000528071.1_Frame_Shift_Del_p.M573fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	687					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCCTTTTCCATTTCCACTTCT	0.358																																																	0													227.0	207.0	213.0					11																	47833875		2201	4298	6499	SO:0001589	frameshift_variant	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2059delA	11.37:g.47833875delT	ENSP00000367721:p.Met687fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Frame_Shift_Del	DEL	ENST00000378460.2	37	CCDS31484.1																																																																																				0.358	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2		NM_015231	
OR51Q1	390061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5443672	5443672	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:5443672C>G	ENST00000300778.4	+	1	332	c.242C>G	c.(241-243)cCc>cGc	p.P81R	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P81R(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACCCTACCCACAGTCATG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											172.0	155.0	161.0					11																	5443672		2201	4297	6498	SO:0001583	missense	390061			AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.242C>G	11.37:g.5443672C>G	ENSP00000300778:p.Pro81Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202889	0.79127	.	.	ENSG00000167360	ENST00000300778	T	0.25749	1.78	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.71099	0.3300	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84628	0.0688	10	0.72032	D	0.01	.	17.191	0.86879	0.0:1.0:0.0:0.0	.	81	Q8NH59	O51Q1_HUMAN	R	81	ENSP00000300778:P81R	ENSP00000300778:P81R	P	+	2	0	OR51Q1	5400248	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.948000	0.75965	2.641000	0.89580	0.380000	0.24917	CCC		0.517	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1		NM_001004757	
PCDHAC2	56134	broad.mit.edu;ucsc.edu	37	5	140346845	140346845	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:140346845C>A	ENST00000289269.5	+	1	1026	c.494C>A	c.(493-495)gCg>gAg	p.A165E	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A165E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGGAGCGCGCTTTCAC	0.597																																					Melanoma(190;638 2083 3390 11909 52360)												1	Substitution - Missense(1)	kidney(1)											27.0	29.0	28.0					5																	140346845		2203	4300	6503	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.494C>A	5.37:g.140346845C>A	ENSP00000289269:p.Ala165Glu	Somatic		WXS	Illumina GAIIx	Phase_I	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981534	0.93044	.	.	ENSG00000243232	ENST00000289269	T	0.51574	0.7	5.43	5.43	0.79202	Cadherin (3);Cadherin-like (1);	0.171066	0.28135	N	0.016476	T	0.62865	0.2463	M	0.72118	2.19	0.49051	D	0.999748	B;P	0.43024	0.333;0.798	B;P	0.50934	0.154;0.654	T	0.65936	-0.6047	10	0.72032	D	0.01	.	19.2427	0.93889	0.0:1.0:0.0:0.0	.	165;165	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	E	165	ENSP00000289269:A165E	ENSP00000289269:A165E	A	+	2	0	PCDHAC2	140327029	0.909000	0.30893	1.000000	0.80357	0.994000	0.84299	3.826000	0.55738	2.555000	0.86185	0.555000	0.69702	GCG		0.597	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2		NM_018899	
PCDHGB7	56099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140798869	140798869	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:140798869C>G	ENST00000398594.2	+	1	1443	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F481L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAGACTTCGGGCTCAACG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											78.0	89.0	85.0					5																	140798869		2138	4234	6372	SO:0001583	missense	56099			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1443C>G	5.37:g.140798869C>G	ENSP00000381594:p.Phe481Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.381485	0.00205	.	.	ENSG00000254122	ENST00000398594	T	0.44881	0.91	5.19	0.468	0.16732	Cadherin (4);Cadherin-like (1);	0.378301	0.14967	N	0.288054	T	0.07458	0.0188	N	0.00178	-1.915	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.37267	-0.9713	10	0.02654	T	1	.	4.1542	0.10252	0.0705:0.2394:0.3881:0.302	.	481;481	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	481	ENSP00000381594:F481L	ENSP00000381594:F481L	F	+	3	2	PCDHGB7	140779053	0.000000	0.05858	0.594000	0.28785	0.169000	0.22640	-1.142000	0.03203	0.075000	0.16796	-0.658000	0.03865	TTC		0.622	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1		NM_018927	
PCDHGC5	56097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140870296	140870296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr5:140870296C>T	ENST00000252087.1	+	1	1489	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q497*(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTAGGAAATCAGGTTCAGGG	0.547																																																	2	Substitution - Nonsense(2)	kidney(2)											93.0	98.0	97.0					5																	140870296		2203	4300	6503	SO:0001587	stop_gained	56097			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1489C>T	5.37:g.140870296C>T	ENSP00000252087:p.Gln497*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9Y5C2	Nonsense_Mutation	SNP	ENST00000252087.1	37	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898986	0.72754	.	.	ENSG00000240764	ENST00000252087	.	.	.	5.56	5.56	0.83823	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.3878	0.38354	0.0:0.7777:0.1461:0.0763	.	.	.	.	X	497	.	ENSP00000252087:Q497X	Q	+	1	0	PCDHGC5	140850480	0.948000	0.32251	0.996000	0.52242	0.748000	0.42578	1.881000	0.39638	2.890000	0.99128	0.655000	0.94253	CAG		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1		NM_018929	
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82544733	82544733	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:82544733T>C	ENST00000333891.9	-	7	12906	c.12569A>G	c.(12568-12570)aAg>aGg	p.K4190R	PCLO_ENST00000423517.2_Missense_Mutation_p.K4190R|PCLO_ENST00000437081.1_Missense_Mutation_p.K910R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K4190R(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCTTATGCTTTGACTGCTT	0.353																																																	2	Substitution - Missense(2)	kidney(2)											81.0	75.0	77.0					7																	82544733		1867	4107	5974	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12569A>G	7.37:g.82544733T>C	ENSP00000334319:p.Lys4190Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543898	0.65198	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.49720	0.77;0.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.69513	0.3119	M	0.74647	2.275	0.58432	D	0.999992	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.985;0.998;0.998	T	0.73335	-0.4015	9	0.87932	D	0	.	16.1303	0.81428	0.0:0.0:0.0:1.0	.	4121;4190;4190	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	4190;4190;910	ENSP00000334319:K4190R;ENSP00000388393:K4190R	ENSP00000334319:K4190R	K	-	2	0	PCLO	82382669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.216000	0.71823	0.377000	0.23210	AAG		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PGPEP1L	145814	broad.mit.edu;hgsc.bcm.edu	37	15	99511854	99511854	+	Silent	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:99511854A>T	ENST00000378919.6	-	5	649	c.444T>A	c.(442-444)ccT>ccA	p.P148P	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_Silent_p.P94P	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	148							cysteine-type peptidase activity (GO:0008234)	p.P148P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GCGATAGTGGAGGGACATGGA	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	29.0	29.0					15																	99511854		1988	4152	6140	SO:0001819	synonymous_variant	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.444T>A	15.37:g.99511854A>T		Somatic		WXS	Illumina HiSeq	Phase_I	H0YF86	Silent	SNP	ENST00000378919.6	37	CCDS53977.1																																																																																				0.547	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1		NM_001102612.2	
PPM1B	5495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44428909	44428909	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:44428909C>A	ENST00000282412.4	+	2	983	c.571C>A	c.(571-573)Cgt>Agt	p.R191S	PPM1B_ENST00000378551.2_Missense_Mutation_p.R191S|PPM1B_ENST00000409895.4_Missense_Mutation_p.R191S|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.R191S|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	191					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.R191S(3)|p.R191C(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATGATACAACGTGTTAATGG	0.468																																																	4	Substitution - Missense(4)	kidney(3)|large_intestine(1)											182.0	169.0	173.0					2																	44428909		2203	4300	6503	SO:0001583	missense	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.571C>A	2.37:g.44428909C>A	ENSP00000282412:p.Arg191Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705892	0.68615	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.68	5.68	0.88126	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	H	0.99011	4.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	D	0.85430	0.1148	10	0.87932	D	0	-14.9137	19.8002	0.96504	0.0:1.0:0.0:0.0	.	191;191;191;191;191	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	S	191	ENSP00000390087:R191S;ENSP00000387341:R191S;ENSP00000387287:R191S;ENSP00000282412:R191S;ENSP00000367813:R191S;ENSP00000386982:R191S	ENSP00000282412:R191S	R	+	1	0	PPM1B	44282413	1.000000	0.71417	0.948000	0.38648	0.900000	0.52787	3.804000	0.55568	2.674000	0.91012	0.655000	0.94253	CGT		0.468	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1		NM_002706	
PKP4	8502	hgsc.bcm.edu;ucsc.edu	37	2	159499100	159499101	+	In_Frame_Ins	INS	-	-	GCAAGT			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:159499100_159499101insGCAAGT	ENST00000389759.3	+	11	1910_1911	c.1798_1799insGCAAGT	c.(1798-1800)ggc>gGCAAGTgc	p.600_601insKC	PKP4_ENST00000389757.3_In_Frame_Ins_p.600_601insKC	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	600					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCGTTTTTGGCAAGTCTACA	0.436										HNSCC(62;0.18)																																							0																																										SO:0001652	inframe_insertion	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1799_1804dupGCAAGT	2.37:g.159499101_159499106dupGCAAGT	ENSP00000374409:p.Gly600_Lys601insLysCys	Somatic		WXS	Illumina HiSeq	Phase_I	Q86W91	In_Frame_Ins	INS	ENST00000389759.3	37	CCDS33305.1																																																																																				0.436	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			
PKP4	8502	broad.mit.edu;hgsc.bcm.edu	37	2	159499107	159499107	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:159499107C>G	ENST00000389759.3	+	11	1917	c.1805C>G	c.(1804-1806)tCt>tGt	p.S602C	PKP4_ENST00000389757.3_Missense_Mutation_p.S602C	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	602					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S602C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTGGCAAGTCTACAGATGAA	0.428										HNSCC(62;0.18)																																							1	Substitution - Missense(1)	kidney(1)											148.0	148.0	148.0					2																	159499107		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1805C>G	2.37:g.159499107C>G	ENSP00000374409:p.Ser602Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559736	0.86335	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.50813	0.73;0.73	6.06	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.055638	0.64402	D	0.000001	T	0.65417	0.2689	M	0.67397	2.05	0.58432	D	0.999998	D;D;D;D;D	0.71674	0.997;0.996;0.997;0.991;0.998	P;P;P;P;D	0.65573	0.894;0.784;0.843;0.706;0.936	T	0.68108	-0.5496	10	0.54805	T	0.06	-10.5439	15.2181	0.73285	0.0:0.9331:0.0:0.0669	.	454;557;602;602;453	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	C	453;602;602	ENSP00000374407:S602C;ENSP00000374409:S602C	ENSP00000374407:S602C	S	+	2	0	PKP4	159207353	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	7.487000	0.81328	1.582000	0.49881	0.655000	0.94253	TCT		0.428	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			
QSOX2	169714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139118696	139118696	+	Missense_Mutation	SNP	G	G	A	rs376604129		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:139118696G>A	ENST00000358701.5	-	2	390	c.353C>T	c.(352-354)gCa>gTa	p.A118V		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	118	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.A118V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GTCCAGAGCTGCGACGCGAAT	0.597											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA	0,4406		0,0,2203	226.0	187.0	201.0		353	3.9	0.1	9		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	QSOX2	NM_181701.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	118/699	139118696	1,13005	2203	4300	6503	SO:0001583	missense	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.353C>T	9.37:g.139118696G>A	ENSP00000351536:p.Ala118Val	Somatic	1646	WXS	Illumina HiSeq	Phase_I	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692252	0.48202	0.0	1.16E-4	ENSG00000165661	ENST00000358701	T	0.15834	2.39	4.91	3.94	0.45596	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.210296	0.38548	N	0.001655	T	0.15219	0.0367	L	0.41906	1.305	0.30053	N	0.811592	B	0.33940	0.433	B	0.34093	0.175	T	0.08391	-1.0724	10	0.56958	D	0.05	-20.4809	12.2031	0.54337	0.0:0.3379:0.6621:0.0	.	118	Q6ZRP7	QSOX2_HUMAN	V	118	ENSP00000351536:A118V	ENSP00000351536:A118V	A	-	2	0	QSOX2	138258517	0.846000	0.29590	0.099000	0.21106	0.003000	0.03518	1.955000	0.40372	2.433000	0.82419	0.557000	0.71058	GCA		0.597	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2		NM_181701	
RNF19B	127544	broad.mit.edu	37	1	33415334	33415334	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:33415334A>G	ENST00000373456.7	-	2	676	c.677T>C	c.(676-678)cTa>cCa	p.L226P	RNF19B_ENST00000356990.5_Missense_Mutation_p.L226P|RNF19B_ENST00000235150.4_Missense_Mutation_p.L226P	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	226					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L35P(1)|p.L226P(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCACAAGTTAGCTTCGGGCA	0.478																																																	2	Substitution - Missense(2)	kidney(2)											103.0	87.0	93.0					1																	33415334		2203	4300	6503	SO:0001583	missense	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.677T>C	1.37:g.33415334A>G	ENSP00000362555:p.Leu226Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	CCDS372.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025335	0.75390	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.81415	-1.49;-1.49;-1.49	5.13	5.13	0.70059	Zinc finger, C6HC-type (2);	0.000000	0.64402	D	0.000002	D	0.88658	0.6496	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.995	D;D;D	0.79784	0.947;0.993;0.966	D	0.90061	0.4156	10	0.87932	D	0	.	15.2408	0.73468	1.0:0.0:0.0:0.0	.	226;226;226	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	P	226;226;226;125	ENSP00000362555:L226P;ENSP00000349482:L226P;ENSP00000235150:L226P	ENSP00000235150:L226P	L	-	2	0	RNF19B	33187921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.334000	0.96470	2.066000	0.61787	0.383000	0.25322	CTA		0.478	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3		NM_153341	
RTF1	23168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41762545	41762545	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr15:41762545A>G	ENST00000389629.4	+	7	992	c.980A>G	c.(979-981)aAg>aGg	p.K327R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	327	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.K202R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		TCCAGTGAAAAGTCAGACCGC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											283.0	275.0	278.0					15																	41762545		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.980A>G	15.37:g.41762545A>G	ENSP00000374280:p.Lys327Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085181	0.55861	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	N	0.19112	0.55	0.80722	D	1	P	0.37781	0.608	B	0.21917	0.037	T	0.18116	-1.0347	9	0.16420	T	0.52	-13.3064	15.5924	0.76543	1.0:0.0:0.0:0.0	.	327	Q92541	RTF1_HUMAN	R	327	.	ENSP00000374280:K327R	K	+	2	0	RTF1	39549837	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.962000	0.93254	2.084000	0.62774	0.533000	0.62120	AAG		0.438	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1		NM_015138	
SCD5	79966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83719576	83719576	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr4:83719576G>A	ENST00000319540.4	-	1	434	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	SCD5_ENST00000282709.4_Missense_Mutation_p.R39C|SCD5_ENST00000273908.4_Missense_Mutation_p.R39C	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	39					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.R39C(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGCTGCCCGCGCGCGCCTGGC	0.662																																																	2	Substitution - Missense(2)	kidney(2)											31.0	28.0	29.0					4																	83719576		2203	4298	6501	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.115C>T	4.37:g.83719576G>A	ENSP00000316329:p.Arg39Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578289	0.65878	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.47177	0.85	4.37	2.53	0.30540	.	0.310744	0.31145	N	0.008165	T	0.47985	0.1475	L	0.34521	1.04	0.31440	N	0.672053	D;D;D	0.89917	0.999;1.0;0.997	P;P;P	0.62435	0.832;0.902;0.454	T	0.51356	-0.8716	10	0.62326	D	0.03	-8.814	6.4161	0.21717	0.0:0.1716:0.5184:0.31	.	39;39;39	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	C	39	ENSP00000316329:R39C	ENSP00000273908:R39C	R	-	1	0	SCD5	83938600	0.008000	0.16893	0.959000	0.39883	0.658000	0.38924	0.650000	0.24858	2.229000	0.72834	0.542000	0.68232	CGC		0.662	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1		NM_024906	
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																																	0																																												727956			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000445430.1	37																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			
SNAI3	333929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	88744902	88744902	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr16:88744902G>A	ENST00000332281.5	-	3	919	c.833C>T	c.(832-834)tCc>tTc	p.S278F	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	278					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S278F(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		CGCCAGGAGGGACATGCGGGA	0.677																																					Colon(27;366 710 19748 23199 27567)												1	Substitution - Missense(1)	kidney(1)											51.0	42.0	45.0					16																	88744902		2198	4299	6497	SO:0001583	missense	333929			BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.833C>T	16.37:g.88744902G>A	ENSP00000327968:p.Ser278Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335225	0.60853	.	.	ENSG00000185669	ENST00000332281	T	0.37058	1.22	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073326	0.56097	D	0.000027	T	0.54127	0.1839	L	0.46670	1.46	0.58432	D	0.999991	D	0.89917	1.0	D	0.71870	0.975	T	0.56396	-0.7986	10	0.87932	D	0	-17.3362	17.6108	0.88053	0.0:0.0:1.0:0.0	.	278	Q3KNW1	SNAI3_HUMAN	F	278	ENSP00000327968:S278F	ENSP00000327968:S278F	S	-	2	0	SNAI3	87272403	1.000000	0.71417	0.982000	0.44146	0.108000	0.19459	7.147000	0.77382	2.521000	0.84997	0.561000	0.74099	TCC		0.677	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			
SPAG5	10615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26920003	26920003	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:26920003A>G	ENST00000321765.5	-	3	591	c.259T>C	c.(259-261)Tca>Cca	p.S87P		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	87					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.S87P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGCCACTTTGAGGAATGACTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											121.0	123.0	122.0					17																	26920003		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.259T>C	17.37:g.26920003A>G	ENSP00000323300:p.Ser87Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	A	4.673	0.125061	0.08931	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.73	4.59	0.56863	.	0.486602	0.17566	N	0.169659	T	0.55577	0.1929	M	0.67953	2.075	0.09310	N	1	D	0.63880	0.993	P	0.59487	0.858	T	0.50233	-0.8852	9	0.87932	D	0	-3.149	9.4559	0.38753	0.8217:0.1783:0.0:0.0	.	87	Q96R06	SPAG5_HUMAN	P	87	.	ENSP00000323300:S87P	S	-	1	0	SPAG5	23944130	0.014000	0.17966	0.024000	0.17045	0.311000	0.27955	1.722000	0.38042	2.302000	0.77476	0.533000	0.62120	TCA		0.418	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2		NM_006461	
SOX9	6662	broad.mit.edu;ucsc.edu	37	17	70119068	70119068	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:70119068T>C	ENST00000245479.2	+	2	1012	c.640T>C	c.(640-642)Tcc>Ccc	p.S214P		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	214					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S214P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CTCGCCACACTCCTCCTCCGG	0.687																																					Pancreas(42;83 1041 2320 35205 39456)												1	Substitution - Missense(1)	kidney(1)											59.0	65.0	63.0					17																	70119068		2203	4300	6503	SO:0001583	missense	6662			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.640T>C	17.37:g.70119068T>C	ENSP00000245479:p.Ser214Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534194	0.64972	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.82711	-1.64	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.85945	2.785	0.80722	D	1	D	0.56521	0.976	P	0.44860	0.462	D	0.85068	0.0938	10	0.29301	T	0.29	.	14.0059	0.64463	0.0:0.0:0.0:1.0	.	214	P48436	SOX9_HUMAN	P	214	ENSP00000245479:S214P	ENSP00000245479:S214P	S	+	1	0	SOX9	67630663	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	2.780000	0.47742	1.716000	0.51395	0.402000	0.26972	TCC		0.687	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1		NM_000346	
TNFRSF1A	7132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6440021	6440021	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr12:6440021G>A	ENST00000162749.2	-	6	922	c.623C>T	c.(622-624)tCa>tTa	p.S208L	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.S165L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	208					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.S208L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CTCCTCACCTGAGTCCTCAGT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											98.0	79.0	86.0					12																	6440021		2203	4300	6503	SO:0001583	missense	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.623C>T	12.37:g.6440021G>A	ENSP00000162749:p.Ser208Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006293	0.35415	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372	D;D;D	0.95788	-3.13;-3.02;-3.81	5.19	5.19	0.71726	.	2.365310	0.02302	N	0.071306	D	0.93210	0.7837	L	0.36672	1.1	0.80722	D	1	B;B	0.33238	0.403;0.294	B;B	0.28232	0.087;0.026	T	0.74928	-0.3497	10	0.30854	T	0.27	-16.116	14.2483	0.66001	0.0:0.0:1.0:0.0	.	165;208	F5H061;P19438	.;TNR1A_HUMAN	L	208;165;208	ENSP00000162749:S208L;ENSP00000438343:S165L;ENSP00000442059:S208L	ENSP00000162749:S208L	S	-	2	0	TNFRSF1A	6310282	0.995000	0.38212	0.944000	0.38274	0.074000	0.17049	2.881000	0.48538	2.426000	0.82243	0.561000	0.74099	TCA		0.562	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1		NM_001065	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179428026	179428026	+	Silent	SNP	T	T	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:179428026T>C	ENST00000591111.1	-	276	78134	c.77910A>G	c.(77908-77910)gaA>gaG	p.E25970E	TTN_ENST00000342992.6_Silent_p.E25043E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.E18738E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.E18671E|TTN_ENST00000460472.2_Silent_p.E18546E|TTN_ENST00000589042.1_Silent_p.E27611E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25970	Fibronectin type-III 89. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E25043E(1)|p.E18671E(1)|p.E25041E(1)|p.E18546E(1)|p.E18738E(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)			CCGCAGCAGCTTCTTTGACCT	0.458																																																	5	Substitution - coding silent(5)	kidney(5)											84.0	84.0	84.0					2																	179428026		2050	4216	6266	SO:0001819	synonymous_variant	7273			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	ENST00000591111.1:c.77910A>G	2.37:g.179428026T>C		Somatic		WXS	Illumina HiSeq	Phase_I	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	Silent	SNP	ENST00000591111.1	37																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179441832	179441832	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:179441832A>T	ENST00000591111.1	-	274	64531	c.64307T>A	c.(64306-64308)cTt>cAt	p.L21436H	TTN_ENST00000342992.6_Missense_Mutation_p.L20509H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L14204H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14137H|TTN_ENST00000460472.2_Missense_Mutation_p.L14012H|TTN_ENST00000589042.1_Missense_Mutation_p.L23077H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21436	Fibronectin type-III 55. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L14204H(1)|p.L14012H(1)|p.L14137H(1)|p.L20509H(1)|p.L20507H(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)			TCTCTTTTCAAGTATATAGGA	0.433																																																	5	Substitution - Missense(5)	kidney(5)											84.0	84.0	84.0					2																	179441832		1881	4119	6000	SO:0001583	missense	7273			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	ENST00000591111.1:c.64307T>A	2.37:g.179441832A>T	ENSP00000465570:p.Leu21436His	Somatic		WXS	Illumina HiSeq	Phase_I	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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.85	2.360752	0.41801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81569	0.4850	M	0.92691	3.335	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.72338	0.977;0.977;0.977;0.967	D	0.86239	0.1642	9	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	14012;14137;14204;21436	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	20509;14012;14204;14137;14010	ENSP00000343764:L20509H;ENSP00000434586:L14012H;ENSP00000340554:L14204H;ENSP00000352154:L14137H	ENSP00000340554:L14204H	L	-	2	0	TTN	179150078	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.311000	0.77944	0.533000	0.62120	CTT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179616303	179616303	+	Intron	SNP	T	T	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:179616303T>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E3608D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TTTTCAGAAATTCTAAATATT	0.398																																																	0													132.0	135.0	134.0					2																	179616303		2201	4298	6499	SO:0001627	intron_variant	7273			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	ENST00000591111.1:c.10360+1547A>C	2.37:g.179616303T>G		Somatic		WXS	Illumina HiSeq	Phase_I	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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.27	1.887673	0.33348	.	.	ENSG00000155657	ENST00000360870	T	0.58506	0.33	5.58	0.634	0.17718	.	.	.	.	.	T	0.34424	0.0897	N	0.17082	0.46	0.80722	D	1	B	0.21381	0.055	B	0.17979	0.02	T	0.05500	-1.0881	9	0.32370	T	0.25	.	5.6314	0.17512	0.0:0.2912:0.2282:0.4807	.	3608	Q8WZ42-6	.	D	3608	ENSP00000354117:E3608D	ENSP00000354117:E3608D	E	-	3	2	TTN	179324548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.503000	0.22610	0.152000	0.19188	0.533000	0.62120	GAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TULP4	56995	broad.mit.edu	37	6	158923758	158923758	+	Silent	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr6:158923758G>C	ENST00000367097.3	+	13	4420	c.3063G>C	c.(3061-3063)ggG>ggC	p.G1021G	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1021					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G1021G(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGCCCGGGGGGGTGGTGACAC	0.726																																																	1	Substitution - coding silent(1)	kidney(1)											6.0	8.0	8.0					6																	158923758		2128	4185	6313	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3063G>C	6.37:g.158923758G>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	CCDS34561.1																																																																																				0.726	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245	
UBAP2L	9898	broad.mit.edu;ucsc.edu	37	1	154229659	154229659	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:154229659A>C	ENST00000361546.2	+	18	2320	c.2278A>C	c.(2278-2280)Agt>Cgt	p.S760R	UBAP2L_ENST00000343815.6_Missense_Mutation_p.S760R|AL590431.1_ENST00000517008.1_RNA|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S771R|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S760R			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	760					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S760R(2)|p.S256R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAATAGTGGCAGTAGCCTGGG	0.552																																																	3	Substitution - Missense(3)	kidney(3)											104.0	95.0	98.0					1																	154229659		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2278A>C	1.37:g.154229659A>C	ENSP00000355343:p.Ser760Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.90|17.90	3.503069|3.503069	0.64298|0.64298	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000433615;ENST00000428595|ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	.|T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.369337	.|0.32608	.|N	.|0.005880	T|T	0.33556|0.33556	0.0867|0.0867	L|L	0.34521|0.34521	1.04|1.04	0.44908|0.44908	D|D	0.997927|0.997927	.|D;D;D;D;D	.|0.60160	.|0.978;0.987;0.987;0.987;0.978	.|P;P;P;P;P	.|0.52343	.|0.5;0.696;0.696;0.696;0.5	T|T	0.23476|0.23476	-1.0187|-1.0187	5|10	.|0.72032	.|D	.|0.01	-9.1538|-9.1538	13.5535|13.5535	0.61747|0.61747	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|674;771;753;760;760	.|B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.|.;.;.;.;UBP2L_HUMAN	P|R	90;38|760;760;256;256;771;760	.|ENSP00000345308:S760R;ENSP00000389445:S760R;ENSP00000271877:S771R;ENSP00000355343:S760R	.|ENSP00000271877:S771R	Q|S	+|+	2|1	0|0	UBAP2L|UBAP2L	152496283|152496283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	2.120000|2.120000	0.41968|0.41968	2.326000|2.326000	0.78906|0.78906	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.552	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1		NM_014847	
UNK	85451	broad.mit.edu;hgsc.bcm.edu	37	17	73814848	73814848	+	Silent	SNP	A	A	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr17:73814848A>C	ENST00000589666.1	+	11	1607	c.1497A>C	c.(1495-1497)gcA>gcC	p.A499A	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000293218.3_Silent_p.A575A	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	499							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A575A(1)|p.A499A(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCATGAATGCAAACGCTCTGC	0.592																																																	2	Substitution - coding silent(2)	kidney(2)											59.0	62.0	61.0					17																	73814848		2021	4185	6206	SO:0001819	synonymous_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1497A>C	17.37:g.73814848A>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000589666.1	37	CCDS45778.2																																																																																				0.592	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1		NM_001080419	
USH1C	10083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17531374	17531374	+	Intron	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr11:17531374C>T	ENST00000318024.4	-	15	1393				USH1C_ENST00000005226.7_Silent_p.G514G|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.G514G(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGGCGGGGGCCCTGTGGTCA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											22.0	29.0	27.0					11																	17531374		2198	4287	6485	SO:0001627	intron_variant	10083			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+7573G>A	11.37:g.17531374C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	CCDS31438.1																																																																																				0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1		NM_005709	
USP40	55230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234431973	234431973	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:234431973C>T	ENST00000427112.2	-	15	2076	c.2041G>A	c.(2041-2043)Gca>Aca	p.A681T	USP40_ENST00000251722.6_Missense_Mutation_p.A681T|USP40_ENST00000450966.1_Missense_Mutation_p.A693T			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	681					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A693T(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GCTGGGATTGCTAAGGCTGTG	0.512																																																	2	Substitution - Missense(2)	kidney(2)											193.0	183.0	187.0					2																	234431973		2015	4180	6195	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2041G>A	2.37:g.234431973C>T	ENSP00000387898:p.Ala681Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481034	0.63849	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.49720	0.77;0.77;0.77	5.64	3.77	0.43336	.	.	.	.	.	T	0.40247	0.1109	L	0.53249	1.67	0.09310	N	1	B;B	0.32467	0.156;0.372	B;B	0.27170	0.035;0.077	T	0.27365	-1.0076	9	0.49607	T	0.09	.	8.4673	0.32964	0.0:0.7504:0.0:0.2496	.	681;693	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	T	693;681;681	ENSP00000415434:A693T;ENSP00000251722:A681T;ENSP00000387898:A681T	ENSP00000251722:A681T	A	-	1	0	USP40	234096712	0.006000	0.16342	0.003000	0.11579	0.957000	0.61999	0.181000	0.16880	0.676000	0.31285	-0.345000	0.07892	GCA		0.512	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294	
ZBTB43	23099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	129595818	129595818	+	Frame_Shift_Del	DEL	G	G	-	rs141489057		TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr9:129595818delG	ENST00000373464.4	+	3	1294	c.1030delG	c.(1030-1032)gcafs	p.A345fs	ZBTB43_ENST00000449886.1_Frame_Shift_Del_p.A345fs|ZBTB43_ENST00000373457.1_Frame_Shift_Del_p.A345fs	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGCTGCCCTCGCAGCAGGTTA	0.468																																																	0													74.0	81.0	78.0					9																	129595818		2203	4300	6503	SO:0001589	frameshift_variant	23099			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1030delG	9.37:g.129595818delG	ENSP00000362563:p.Ala345fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JU96	Frame_Shift_Del	DEL	ENST00000373464.4	37	CCDS6867.1																																																																																				0.468	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1		NM_001135776	
ZC3HAV1	56829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138794026	138794026	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr7:138794026C>T	ENST00000242351.5	-	1	368	c.52G>A	c.(52-54)Ggg>Agg	p.G18R	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.G18R|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.G18R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	18	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.G18R(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATGCGGCCCCCGTGGGCGCAC	0.706																																																	1	Substitution - Missense(1)	kidney(1)											12.0	16.0	15.0					7																	138794026		2167	4276	6443	SO:0001583	missense	56829			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.52G>A	7.37:g.138794026C>T	ENSP00000242351:p.Gly18Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466459	0.43839	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.37752	1.18;1.18;1.18	4.52	1.73	0.24493	.	0.000000	0.49916	D	0.000138	T	0.46502	0.1396	M	0.80422	2.495	0.35849	D	0.826636	P;D	0.62365	0.489;0.991	B;P	0.52424	0.138;0.698	T	0.55872	-0.8072	10	0.56958	D	0.05	.	6.888	0.24214	0.0:0.7046:0.0:0.2954	.	18;18	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	R	18	ENSP00000242351:G18R;ENSP00000418385:G18R;ENSP00000419855:G18R	ENSP00000242351:G18R	G	-	1	0	ZC3HAV1	138444566	0.759000	0.28416	0.901000	0.35422	0.759000	0.43091	1.242000	0.32755	0.257000	0.21650	-0.424000	0.05967	GGG		0.706	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1		NM_020119	
ZNF687	57592	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151259347	151259347	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr1:151259347C>G	ENST00000368879.2	+	2	678	c.580C>G	c.(580-582)Cct>Gct	p.P194A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	194	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P194A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACCCCGCCTCCTTTCCCCTC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											40.0	44.0	43.0					1																	151259347		2203	4300	6503	SO:0001583	missense	57592				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.580C>G	1.37:g.151259347C>G	ENSP00000357874:p.Pro194Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37		.	.	.	.	.	.	.	.	.	.	C	7.062	0.566584	0.13560	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00776	5.71;5.71;6.04	4.41	-0.00881	0.14003	.	0.484865	0.15413	N	0.263661	T	0.00241	0.0007	L	0.27053	0.805	0.28882	N	0.894324	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.003	T	0.27839	-1.0062	9	.	.	.	.	6.6081	0.22735	0.0:0.5903:0.1386:0.2711	.	194;194;194	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	A	194	ENSP00000336620:P194A;ENSP00000319829:P194A;ENSP00000357874:P194A	.	P	+	1	0	ZNF687	149525971	0.062000	0.20869	0.991000	0.47740	0.731000	0.41821	-0.208000	0.09371	0.138000	0.18790	0.462000	0.41574	CCT		0.632	ZNF687-201	KNOWN	basic	protein_coding	protein_coding			NM_020832	
ZNF804A	91752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	185801058	185801058	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5185-01A-01D-1429-08	TCGA-BP-5185-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42dc6d82-f52a-4b13-b3bc-c63002b47e98	b196abf3-5cdd-43a6-9891-67410109b05a	g.chr2:185801058G>C	ENST00000302277.6	+	4	1529	c.935G>C	c.(934-936)tGc>tCc	p.C312S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	312							metal ion binding (GO:0046872)	p.C312S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTTCATTTTGCAAGTTTCAA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											32.0	31.0	31.0					2																	185801058		2202	4295	6497	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.935G>C	2.37:g.185801058G>C	ENSP00000303252:p.Cys312Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753051	0.15778	.	.	ENSG00000170396	ENST00000302277	T	0.43688	0.94	5.57	4.7	0.59300	.	0.089455	0.49916	D	0.000131	T	0.32315	0.0825	L	0.47716	1.5	0.43408	D	0.995547	B	0.26876	0.162	B	0.21917	0.037	T	0.10154	-1.0642	10	0.25106	T	0.35	-2.038	8.3303	0.32182	0.0843:0.1678:0.7479:0.0	.	312	Q7Z570	Z804A_HUMAN	S	312	ENSP00000303252:C312S	ENSP00000303252:C312S	C	+	2	0	ZNF804A	185509303	1.000000	0.71417	0.991000	0.47740	0.441000	0.31987	1.569000	0.36428	1.352000	0.45808	0.591000	0.81541	TGC		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1		NM_194250	
