#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HNRNPA3	220988	broad.mit.edu	37	2	178080605	178080605	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr2:178080605A>C	ENST00000392524.2	+	3	560	c.323A>C	c.(322-324)aAg>aCg	p.K108T	HNRNPA3_ENST00000411529.2_Missense_Mutation_p.K86T|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.K108T			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	108	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTGGAACCAAAGAGAGCTGTT	0.373																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(256-258)aAg>aCg		heterogeneous nuclear ribonucleoprotein A3							88.0	91.0	90.0					2																	178080605		2202	4300	6502	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080605A>C	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.323A>C	2.37:g.178080605A>C	ENSP00000376309:p.Lys108Thr					HNRNPA3_ENST00000435711.1_Missense_Mutation_p.K108T|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.K108T	p.K86T	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			3	308	+			108			RRM 1.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.257A>C	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883791	0.72410	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.88431	-2.38;-2.38;-2.38	4.2	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.49305	D	0.000158	D	0.95338	0.8487	M	0.92169	3.28	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.976	D	0.96279	0.9205	10	0.87932	D	0	.	13.6054	0.62044	1.0:0.0:0.0:0.0	.	86;108	B4DDB6;P51991	.;ROA3_HUMAN	T	108;86;86;86;108	ENSP00000376309:K108T;ENSP00000408487:K86T;ENSP00000416340:K108T	ENSP00000376309:K108T	K	+	2	0	HNRNPA3	177788851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	1.689000	0.51079	0.383000	0.25322	AAG		0.373	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		9	71	0	0	0	1	0	9	71				
SYDE1	85360	broad.mit.edu	37	19	15224479	15224479	+	Missense_Mutation	SNP	G	G	A	rs370725981		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr19:15224479G>A	ENST00000342784.2	+	8	1944	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	SYDE1_ENST00000600440.1_Missense_Mutation_p.R571H|SYDE1_ENST00000600252.1_Missense_Mutation_p.R295H	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	638					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACTCGGCCCCGCGGTCGAGGA	0.682																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(883-885)cGc>cAc		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							46.0	57.0	53.0					19																	15224479		2203	4298	6501	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224479G>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1913G>A	19.37:g.15224479G>A	ENSP00000341489:p.Arg638His					SYDE1_ENST00000600440.1_Missense_Mutation_p.R571H|SYDE1_ENST00000342784.2_Missense_Mutation_p.R638H	p.R295H			Q6ZW31	SYDE1_HUMAN			5	2526	+			638					Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.884G>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640930	0.67244	.	.	ENSG00000105137	ENST00000342784	T	0.51325	0.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.79123	2.44	0.49483	D	0.999793	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.993	T	0.72975	-0.4128	10	0.87932	D	0	.	14.9343	0.70941	0.0:0.0:1.0:0.0	.	571;571;638	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	H	638	ENSP00000341489:R638H	ENSP00000341489:R638H	R	+	2	0	SYDE1	15085479	0.993000	0.37304	0.998000	0.56505	0.040000	0.13550	5.414000	0.66405	2.604000	0.88044	0.491000	0.48974	CGC		0.682	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		19	78	0	0	0	1	0	19	78				
RAD51B	5890	broad.mit.edu	37	14	68353829	68353829	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr14:68353829G>A	ENST00000487270.1	+	7	712	c.664G>A	c.(664-666)Gca>Aca	p.A222T	RAD51B_ENST00000390683.3_Missense_Mutation_p.A222T|RAD51B_ENST00000488612.1_Missense_Mutation_p.A222T|RAD51B_ENST00000487861.1_Missense_Mutation_p.A222T|RAD51B_ENST00000471583.1_Missense_Mutation_p.A222T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	222					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGAGTTTGATGCACAACTTCA	0.373								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(664-666)Gca>Aca	Direct reversal of damage	RAD51 paralog B							91.0	96.0	94.0					14																	68353829		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68353829G>A	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.664G>A	14.37:g.68353829G>A	ENSP00000419471:p.Ala222Thr					RAD51B_ENST00000488612.1_Missense_Mutation_p.A222T|RAD51B_ENST00000487861.1_Missense_Mutation_p.A222T|RAD51B_ENST00000471583.1_Missense_Mutation_p.A222T|RAD51B_ENST00000390683.3_Missense_Mutation_p.A222T	p.A222T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN			7	712	+			222					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.664G>A	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	G	9.072	0.997140	0.19043	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.9	2.21	0.28008	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.218389	0.37178	N	0.002204	T	0.16599	0.0399	N	0.02802	-0.49	0.22199	N	0.9993	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.0;0.001	T	0.15925	-1.0420	10	0.35671	T	0.21	-29.5432	6.3174	0.21199	0.7231:0.1376:0.1393:0.0	.	222;222;222;222;222;222	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	T	222	ENSP00000419881:A222T;ENSP00000418859:A222T;ENSP00000419471:A222T;ENSP00000420061:A222T;ENSP00000375101:A222T	ENSP00000343531:A222T	A	+	1	0	RAD51B	67423582	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.179000	0.50887	0.130000	0.18549	-0.295000	0.09555	GCA		0.373	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			12	74	0	0	0	1	0	12	74				
CTSO	1519	broad.mit.edu	37	4	156860533	156860533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr4:156860533C>T	ENST00000433477.3	-	4	611	c.542G>A	c.(541-543)tGg>tAg	p.W181*		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	188					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CTTGTTTAACCAGTTCAAAGC	0.388																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(541-543)tGg>tAg		cathepsin O							106.0	109.0	108.0					4																	156860533		2203	4300	6503	SO:0001587	stop_gained	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156860533C>T	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.542G>A	4.37:g.156860533C>T	ENSP00000414904:p.Trp181*						p.W181*	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	4	611	-	all_hematologic(180;0.24)	Renal(120;0.0458)	181					Q6FHS6	Nonsense_Mutation	SNP	ENST00000433477.3	37	c.542G>A	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	37	6.603303	0.97697	.	.	ENSG00000256043	ENST00000433477	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.4447	0.99122	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000281527:W181X	W	-	2	0	CTSO	157079983	1.000000	0.71417	0.832000	0.32986	0.904000	0.53231	7.455000	0.80726	2.834000	0.97654	0.655000	0.94253	TGG		0.388	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		9	82	0	0	0	1	0	9	82				
KCNJ6	3763	broad.mit.edu	37	21	38997475	38997475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr21:38997475C>A	ENST00000609713.1	-	4	1847	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.E420*	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	420					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACTTTGGATTCATTCTCCAGG	0.448																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1258-1260)Gaa>Taa		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						205.0	194.0	198.0					21																	38997475		1891	4118	6009	SO:0001587	stop_gained	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997475C>A	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.1258G>T	21.37:g.38997475C>A	ENSP00000477437:p.Glu420*					KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.E420*	p.E420*	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			4	1847	-			420					Q3MJ74|Q53WW6	Nonsense_Mutation	SNP	ENST00000609713.1	37	c.1258G>T	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	40	8.204159	0.98704	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.44643	D	0.997623	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	420	.	ENSP00000288309:E420X	E	-	1	0	KCNJ6	37919345	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	7.487000	0.81328	2.723000	0.93209	0.655000	0.94253	GAA		0.448	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		23	152	1	0	6.21321e-17	1	6.48335e-17	23	152				
ZNF318	24149	broad.mit.edu	37	6	43323546	43323546	+	Missense_Mutation	SNP	C	C	T	rs147691068		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr6:43323546C>T	ENST00000361428.2	-	4	1603	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ZNF318_ENST00000318149.3_Missense_Mutation_p.R509H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	509					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTCAGAATGCGGGAAAAACC	0.488																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1525-1527)cGc>cAc		zinc finger protein 318							193.0	198.0	196.0					6																	43323546		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323546C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1526G>A	6.37:g.43323546C>T	ENSP00000354964:p.Arg509His					ZNF318_ENST00000318149.3_Missense_Mutation_p.R509H	p.R509H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1603	-			509					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1526G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205238	0.79127	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03358	3.96;3.96	6.17	6.17	0.99709	.	0.206696	0.43416	D	0.000578	T	0.05181	0.0138	L	0.27053	0.805	0.43729	D	0.996211	D	0.67145	0.996	P	0.56278	0.795	T	0.45571	-0.9252	10	0.72032	D	0.01	-2.4481	19.0599	0.93085	0.0:1.0:0.0:0.0	.	509	Q5VUA4	ZN318_HUMAN	H	509	ENSP00000323032:R509H;ENSP00000354964:R509H	ENSP00000323032:R509H	R	-	2	0	ZNF318	43431524	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	3.076000	0.50081	2.941000	0.99782	0.655000	0.94253	CGC		0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	337	0	0	0	1	0	7	337				
SEL1L3	23231	broad.mit.edu	37	4	25783895	25783895	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr4:25783895C>T	ENST00000399878.3	-	15	2548	c.2426G>A	c.(2425-2427)gGc>gAc	p.G809D	SEL1L3_ENST00000264868.5_Missense_Mutation_p.G774D|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G656D	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	809						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGGGAAGATGCCATCCAAATG	0.443																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2425-2427)gGc>gAc		sel-1 suppressor of lin-12-like 3 (C. elegans)							234.0	225.0	228.0					4																	25783895		1952	4137	6089	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25783895C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2426G>A	4.37:g.25783895C>T	ENSP00000382767:p.Gly809Asp					SEL1L3_ENST00000502949.1_Missense_Mutation_p.G656D|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G774D	p.G809D	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			15	2548	-			809					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2426G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878771	0.72294	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.57907	0.37;0.37;0.37	5.53	5.53	0.82687	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.67397	2.05	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74904	-0.3505	10	0.87932	D	0	-19.1713	19.4757	0.94987	0.0:1.0:0.0:0.0	.	216;809	B4DTH5;Q68CR1	.;SE1L3_HUMAN	D	809;774;656	ENSP00000382767:G809D;ENSP00000264868:G774D;ENSP00000425438:G656D	ENSP00000264868:G774D	G	-	2	0	SEL1L3	25392993	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	6.494000	0.73661	2.601000	0.87937	0.467000	0.42956	GGC		0.443	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		4	123	0	0	0	1	0	4	123				
DDX27	55661	broad.mit.edu	37	20	47855502	47855502	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr20:47855502C>A	ENST00000371764.4	+	15	1806	c.1797C>A	c.(1795-1797)ttC>ttA	p.F599L	ZNFX1_ENST00000371754.4_Silent_p.R1254R|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_5'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	599	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCTCAAATTCCGGGACAAGA	0.488																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1795-1797)ttC>ttA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							58.0	54.0	56.0					20																	47855502		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47855502C>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1797C>A	20.37:g.47855502C>A	ENSP00000360828:p.Phe599Leu					ZNFX1_ENST00000371754.4_Silent_p.R1254R|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR	p.F599L	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		15	1806	+			599			Helicase C-terminal.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1797C>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106355	0.77096	.	.	ENSG00000124228	ENST00000371764	T	0.01446	4.88	5.23	2.12	0.27331	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01870	0.0059	N	0.16233	0.39	0.80722	D	1	P	0.47910	0.902	P	0.47402	0.546	T	0.66874	-0.5813	10	0.52906	T	0.07	-16.6675	8.2528	0.31737	0.0:0.7188:0.0:0.2812	.	599	Q96GQ7	DDX27_HUMAN	L	599	ENSP00000360828:F599L	ENSP00000360828:F599L	F	+	3	2	DDX27	47288909	0.998000	0.40836	0.933000	0.37362	0.908000	0.53690	0.581000	0.23819	0.169000	0.19679	0.655000	0.94253	TTC		0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			3	47	1	0	1	1	1	3	47				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	29	0	0	0	1	0	4	29				
ASTN1	460	broad.mit.edu	37	1	176927523	176927523	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr1:176927523C>A	ENST00000367654.3	-	10	1929	c.1718G>T	c.(1717-1719)tGc>tTc	p.C573F	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.C565F|ASTN1_ENST00000361833.2_Missense_Mutation_p.C565F|ASTN1_ENST00000424564.2_Missense_Mutation_p.C565F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	573					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCGTCTTGCACTTTGCTGA	0.532																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1717-1719)tGc>tTc		astrotactin 1							125.0	92.0	103.0					1																	176927523		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176927523C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1718G>T	1.37:g.176927523C>A	ENSP00000356626:p.Cys573Phe					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.C565F|ASTN1_ENST00000367657.3_Missense_Mutation_p.C565F|ASTN1_ENST00000424564.2_Missense_Mutation_p.C565F	p.C573F			O14525	ASTN1_HUMAN			10	1731	-			573					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1718G>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.741499	0.89573	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.32753	1.44;1.84;1.84;1.45	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.83275	0.996;0.994;0.994	T	0.47824	-0.9087	10	0.87932	D	0	-20.2026	18.9852	0.92766	0.0:1.0:0.0:0.0	.	573;565;565	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	F	565;565;573;565;565	ENSP00000356629:C565F;ENSP00000354536:C565F;ENSP00000356626:C573F;ENSP00000395041:C565F	ENSP00000354536:C565F	C	-	2	0	ASTN1	175194146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.711000	0.84669	2.572000	0.86782	0.655000	0.94253	TGC		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	28	1	0	0.00198382	1	0.00202603	6	28				
PCDHB8	56128	broad.mit.edu	37	5	140558697	140558697	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:140558697C>T	ENST00000239444.2	+	1	1327	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	361	Cadherin 4. {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.A361V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAATGCGCCTGAAACT	0.448																																						ENST00000239444.2																			1	Substitution - Missense(1)	p.A361V(1)	large_intestine(1)	NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1081-1083)gCg>gTg									229.0	298.0	274.0					5																	140558697		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558697C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1082C>T	5.37:g.140558697C>T	ENSP00000239444:p.Ala361Val						p.A361V	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1327	+			361			Cadherin 4.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1082C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	6.054	0.378255	0.11466	.	.	ENSG00000120322	ENST00000239444	T	0.03663	3.85	4.25	2.42	0.29668	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.05823	0.0152	L	0.53249	1.67	0.09310	N	1	B	0.32382	0.368	B	0.35859	0.212	T	0.28427	-1.0044	9	0.66056	D	0.02	.	8.99	0.36017	0.0:0.8118:0.0:0.1882	.	361	Q9UN66	PCDB8_HUMAN	V	361	ENSP00000239444:A361V	ENSP00000239444:A361V	A	+	2	0	PCDHB8	140538881	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	0.087000	0.14958	0.250000	0.21479	-0.225000	0.12378	GCG		0.448	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		5	397	0	0	0	1	0	5	397				
IL12B	3593	broad.mit.edu	37	5	158753717	158753717	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:158753717T>A	ENST00000231228.2	-	2	529	c.74A>T	c.(73-75)gAa>gTa	p.E25V		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	25	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTCTTCAGTTCCCATATGGC	0.502																																						ENST00000231228.2																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11						c.(73-75)gAa>gTa		interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)							79.0	83.0	82.0					5																	158753717		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158753717T>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.74A>T	5.37:g.158753717T>A	ENSP00000231228:p.Glu25Val						p.E25V	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	529	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	25			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000231228.2	37	c.74A>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492943	0.64074	.	.	ENSG00000113302	ENST00000231228	T	0.19105	2.17	5.64	5.64	0.86602	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387651	0.30003	N	0.010650	T	0.29256	0.0728	M	0.67397	2.05	0.42401	D	0.992567	P	0.36909	0.573	B	0.42386	0.386	T	0.03555	-1.1025	10	0.33141	T	0.24	.	12.5557	0.56252	0.0:0.0:0.0:1.0	.	25	P29460	IL12B_HUMAN	V	25	ENSP00000231228:E25V	ENSP00000231228:E25V	E	-	2	0	IL12B	158686295	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.903000	0.56318	2.285000	0.76669	0.533000	0.62120	GAA		0.502	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		6	33	0	0	0	1	0	6	33				
ADIPOQ	9370	broad.mit.edu	37	3	186572353	186572353	+	Missense_Mutation	SNP	G	G	A	rs144526209		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr3:186572353G>A	ENST00000412955.2	+	3	736	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G199S|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G199S			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	199	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CCAGGCCTCCGGCTCTGTGCT	0.502																																						ENST00000412955.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16						c.(595-597)Ggc>Agc		adiponectin, C1Q and collagen domain containing		G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	80.0	79.0	80.0		595,595	4.3	1.0	3	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ADIPOQ	NM_001177800.1,NM_004797.3	56,56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	199/245,199/245	186572353	3,13003	2203	4300	6503	SO:0001583	missense	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186572353G>A	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.595G>A	3.37:g.186572353G>A	ENSP00000405611:p.Gly199Ser					ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G199S|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G199S|ADIPOQ-AS1_ENST00000422718.1_RNA	p.G199S			Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	3	736	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		199			C1q.		Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	c.595G>A	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673347	0.67928	2.27E-4	2.33E-4	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	T;T;T	0.77229	-1.08;-1.08;-1.08	5.27	4.34	0.51931	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.064020	0.64402	D	0.000009	D	0.89441	0.6716	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90917	0.4780	10	0.62326	D	0.03	.	14.4374	0.67290	0.0:0.1485:0.8515:0.0	.	199	Q15848	ADIPO_HUMAN	S	199	ENSP00000405611:G199S;ENSP00000320709:G199S;ENSP00000389814:G199S	ENSP00000320709:G199S	G	+	1	0	ADIPOQ	188055047	1.000000	0.71417	0.990000	0.47175	0.367000	0.29736	5.498000	0.66931	2.628000	0.89032	0.655000	0.94253	GGC		0.502	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		18	30	0	0	0	1	0	18	30				
CLP1	10978	broad.mit.edu	37	11	57428325	57428325	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr11:57428325G>A	ENST00000302731.4	+	3	623	c.503G>A	c.(502-504)gGc>gAc	p.G168D	CLP1_ENST00000529430.1_Missense_Mutation_p.G243D|CLP1_ENST00000533682.1_Missense_Mutation_p.G232D|CLP1_ENST00000525602.1_Missense_Mutation_p.G232D	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AACACCTGTGGCTGGGTCAAG	0.488																																						ENST00000533682.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						c.(694-696)gGc>gAc		cleavage and polyadenylation factor I subunit 1							131.0	125.0	127.0					11																	57428325		2201	4296	6497	SO:0001583	missense	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428325G>A	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.503G>A	11.37:g.57428325G>A	ENSP00000304704:p.Gly168Asp					CLP1_ENST00000302731.4_Missense_Mutation_p.G168D|CLP1_ENST00000525602.1_Missense_Mutation_p.G232D|CLP1_ENST00000529430.1_Missense_Mutation_p.G243D	p.G232D			Q92989	CLP1_HUMAN			3	1420	+			232					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.695G>A	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	g	29.7	5.026543	0.93518	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.88	5.88	0.94601	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94948	0.8097	10	0.72032	D	0.01	-5.202	19.8569	0.96762	0.0:0.0:1.0:0.0	.	168;232	Q92989-2;Q92989	.;CLP1_HUMAN	D	243;232;232;168	ENSP00000433406:G243D;ENSP00000434995:G232D;ENSP00000436066:G232D;ENSP00000304704:G168D	ENSP00000304704:G168D	G	+	2	0	CLP1	57184901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.728000	0.98792	2.804000	0.96469	0.645000	0.84053	GGC		0.488	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		16	92	0	0	0	1	0	16	92				
GAD2	2572	broad.mit.edu	37	10	26506848	26506848	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr10:26506848G>A	ENST00000376261.3	+	3	717	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	GAD2_ENST00000259271.3_Missense_Mutation_p.A72T|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	72					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ccggAAGGCCGCCTGCGCCTG	0.692																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(214-216)Gcc>Acc		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						15.0	20.0	18.0					10																	26506848		2195	4291	6486	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26506848G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.214G>A	10.37:g.26506848G>A	ENSP00000365437:p.Ala72Thr					GAD2_ENST00000259271.3_Missense_Mutation_p.A72T	p.A72T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			3	717	+			72					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.214G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755613	0.31046	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.58940	0.3;0.3;0.3	5.84	1.63	0.23807	.	0.535497	0.20968	N	0.082460	T	0.42086	0.1187	L	0.43152	1.355	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.15867	-1.0422	10	0.19590	T	0.45	-0.1071	6.7556	0.23512	0.2628:0.0:0.6186:0.1185	.	72;72	Q4G154;Q05329	.;DCE2_HUMAN	T	72	ENSP00000365437:A72T;ENSP00000259271:A72T;ENSP00000390434:A72T	ENSP00000259271:A72T	A	+	1	0	GAD2	26546854	0.982000	0.34865	1.000000	0.80357	0.200000	0.23975	1.718000	0.38001	0.814000	0.34374	0.561000	0.74099	GCC		0.692	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		4	17	0	0	0	1	0	4	17				
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T	rs546356291	byFrequency	TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		18338	0.002		0.0	False		,,,				2504	0.001					ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(826-828)caG>caA		nuclear receptor coactivator 6							93.0	71.0	78.0					20																	33345723		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345723C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.828G>A	20.37:g.33345723C>T						NCOA6_ENST00000359003.2_Silent_p.Q276Q	p.Q276Q			Q14686	NCOA6_HUMAN			8	3398	-			276			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.828G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	28	0	0	0	1	0	3	28				
DCTN4	51164	broad.mit.edu	37	5	150095125	150095125	+	Splice_Site	SNP	A	A	G			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:150095125A>G	ENST00000447998.2	-	12	1285		c.e12+1		DCTN4_ENST00000424236.1_Splice_Site|DCTN4_ENST00000446090.2_Splice_Site	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGATCACTCACTCAGGATCG	0.428																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.e12+1		dynactin 4 (p62)							123.0	100.0	108.0					5																	150095125		2203	4300	6503	SO:0001630	splice_region_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150095125A>G	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1169+1T>C	5.37:g.150095125A>G						DCTN4_ENST00000424236.1_Splice_Site|DCTN4_ENST00000446090.2_Splice_Site		NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1285	-		Medulloblastoma(196;0.167)						B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Splice_Site	SNP	ENST00000447998.2	37		CCDS4310.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451951	0.43531	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1251	0.81386	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCTN4	150075318	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	8.742000	0.91588	2.267000	0.75376	0.477000	0.44152	.		0.428	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1		Intron	4	30	0	0	0	1	0	4	30				
TEX14	56155	broad.mit.edu	37	17	56700278	56700278	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr17:56700278C>T	ENST00000240361.8	-	4	432	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	TEX14_ENST00000349033.5_Missense_Mutation_p.R116Q|TEX14_ENST00000389934.3_Missense_Mutation_p.R116Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	116					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCGTGGAGTCGCAGGTCACC	0.577																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(346-348)cGa>cAa		testis expressed 14							110.0	79.0	89.0					17																	56700278		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56700278C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.347G>A	17.37:g.56700278C>T	ENSP00000240361:p.Arg116Gln					TEX14_ENST00000349033.5_Missense_Mutation_p.R116Q|TEX14_ENST00000240361.8_Missense_Mutation_p.R116Q	p.R116Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			4	464	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		116					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.347G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127563	0.94473	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.33865	1.39;1.39;1.39	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000020	T	0.47116	0.1428	N	0.17872	0.535	0.36324	D	0.858436	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.59118	-0.7514	10	0.87932	D	0	-18.1883	17.4838	0.87682	0.0:1.0:0.0:0.0	.	116;116;116	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	116	ENSP00000240361:R116Q;ENSP00000374584:R116Q;ENSP00000268910:R116Q	ENSP00000240361:R116Q	R	-	2	0	TEX14	54055277	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	5.718000	0.68455	2.538000	0.85594	0.655000	0.94253	CGA		0.577	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			12	43	0	0	0	1	0	12	43				
TMEM196	256130	broad.mit.edu	37	7	19765279	19765279	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr7:19765279G>A	ENST00000405764.3	-	3	1013	c.317C>T	c.(316-318)gCc>gTc	p.A106V	TMEM196_ENST00000493519.1_Missense_Mutation_p.A38V|TMEM196_ENST00000433641.1_Missense_Mutation_p.A38V|TMEM196_ENST00000422233.1_Missense_Mutation_p.A38V|TMEM196_ENST00000405844.1_Missense_Mutation_p.A106V	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	112						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AGACATGGAGGCAAGGTGCAG	0.522																																						ENST00000405844.1																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(316-318)gCc>gTc		transmembrane protein 196							107.0	100.0	102.0					7																	19765279		2203	4300	6503	SO:0001583	missense	256130					integral to membrane		g.chr7:19765279G>A		CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.317C>T	7.37:g.19765279G>A	ENSP00000384234:p.Ala106Val					TMEM196_ENST00000422233.1_Missense_Mutation_p.A38V|TMEM196_ENST00000433641.1_Missense_Mutation_p.A38V|TMEM196_ENST00000405764.3_Missense_Mutation_p.A106V|TMEM196_ENST00000493519.1_Missense_Mutation_p.A38V	p.A106V			Q5HYL7	TM196_HUMAN			3	1012	-			112					Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	c.317C>T	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283566	0.59867	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.32530	0.975	0.80722	D	1	B	0.25904	0.137	B	0.25759	0.063	T	0.55198	-0.8178	9	0.72032	D	0.01	1.94	19.9392	0.97153	0.0:0.0:1.0:0.0	.	106	Q5HYL7-4	.	V	106;106;38;38;38	.	ENSP00000384234:A106V	A	-	2	0	TMEM196	19731804	1.000000	0.71417	0.998000	0.56505	0.573000	0.36030	9.466000	0.97665	2.713000	0.92767	0.655000	0.94253	GCC		0.522	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1	NM_152774		3	51	0	0	0	1	0	3	51				
BCORL1	63035	broad.mit.edu	37	X	129155027	129155027	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chrX:129155027G>C	ENST00000218147.7	+	5	3706	c.3509G>C	c.(3508-3510)gGa>gCa	p.G1170A	BCORL1_ENST00000540052.1_Missense_Mutation_p.G1170A|BCORL1_ENST00000303743.5_Missense_Mutation_p.G1170A|BCORL1_ENST00000359304.2_Missense_Mutation_p.G1170A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1170					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGATTCAGGAAAAGAGCAC	0.587																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3508-3510)gGa>gCa		BCL6 corepressor-like 1							32.0	35.0	34.0					X																	129155027		2203	4299	6502	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155027G>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3509G>C	X.37:g.129155027G>C	ENSP00000218147:p.Gly1170Ala					BCORL1_ENST00000303743.5_Missense_Mutation_p.G1170A|BCORL1_ENST00000359304.2_Missense_Mutation_p.G1170A|BCORL1_ENST00000218147.7_Missense_Mutation_p.G1170A	p.G1170A	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			4	3553	+			1170					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3509G>C	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.83|15.83	2.948791|2.948791	0.53186|0.53186	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.40476|.	1.09;1.45;1.03;1.09;1.51|.	6.04|6.04	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.35838|.	N|.	0.002954|.	T|T	0.32912|0.32912	0.0845|0.0845	L|L	0.27053|0.27053	0.805|0.805	0.25426|0.25426	N|N	0.988223|0.988223	D;P|.	0.60575|.	0.988;0.905|.	P;B|.	0.56612|.	0.802;0.444|.	T|T	0.21621|0.21621	-1.0240|-1.0240	10|5	0.05525|.	T|.	0.97|.	-1.9919|-1.9919	8.8247|8.8247	0.35047|0.35047	0.0:0.1333:0.5528:0.3138|0.0:0.1333:0.5528:0.3138	.|.	1170;1170|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	A|S	1170;1170;1170;1170;770|605	ENSP00000218147:G1170A;ENSP00000307541:G1170A;ENSP00000352253:G1170A;ENSP00000437775:G1170A;ENSP00000399483:G770A|.	ENSP00000218147:G1170A|.	G|R	+|+	2|3	0|2	BCORL1|BCORL1	128982708|128982708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	0.910000|0.910000	0.28571|0.28571	1.283000|1.283000	0.44513|0.44513	0.513000|0.513000	0.50165|0.50165	GGA|AGG		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	12	0	0	0	1	0	3	12				
CLCN7	1186	broad.mit.edu	37	16	1498382	1498382	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr16:1498382C>T	ENST00000382745.4	-	21	2592	c.1987G>A	c.(1987-1989)Gtg>Atg	p.V663M	CLCN7_ENST00000448525.1_Missense_Mutation_p.V639M|CLCN7_ENST00000262318.8_Missense_Mutation_p.V639M|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	663	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGCTCCACCACGGGGAAGCCG	0.617																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1987-1989)Gtg>Atg		chloride channel, voltage-sensitive 7							81.0	63.0	69.0					16																	1498382		2198	4298	6496	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1498382C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1987G>A	16.37:g.1498382C>T	ENSP00000372193:p.Val663Met					CLCN7_ENST00000262318.8_Missense_Mutation_p.V639M|CLCN7_ENST00000448525.1_Missense_Mutation_p.V639M	p.V663M	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			21	2592	-		Hepatocellular(780;0.0893)	663			CBS 1.		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.1987G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912541	0.72983	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.98531	-4.98;-4.98	5.18	5.18	0.71444	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.997	D	0.99153	1.0859	10	0.87932	D	0	-39.9514	17.2353	0.86997	0.0:1.0:0.0:0.0	.	639;639;663;112	A8K7X1;E9PDB9;P51798;B3KUD9	.;.;CLCN7_HUMAN;.	M	639;616;663;605	ENSP00000410907:V639M;ENSP00000372193:V663M	ENSP00000262318:V616M	V	-	1	0	CLCN7	1438383	0.998000	0.40836	0.962000	0.40283	0.023000	0.10783	3.835000	0.55805	2.404000	0.81709	0.491000	0.48974	GTG		0.617	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		6	25	0	0	0	1	0	6	25				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	20	0	0	0	1	0	3	20				
VCAN	1462	broad.mit.edu	37	5	82837393	82837393	+	Silent	SNP	T	T	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:82837393T>A	ENST00000265077.3	+	8	9136	c.8571T>A	c.(8569-8571)tcT>tcA	p.S2857S	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.S1870S|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2857	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCGGCTCATCTGTAATGTCCC	0.478																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(8569-8571)tcT>tcA		versican							86.0	87.0	87.0					5																	82837393		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837393T>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8571T>A	5.37:g.82837393T>A						VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.S1870S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA	p.S2857S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9136	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2857			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.8571T>A	CCDS4060.1																																																																																				0.478	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		3	70	0	0	0	1	0	3	70				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	17	0	0	0	1	0	3	17				
BIVM	54841	broad.mit.edu	37	13	103468831	103468831	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr13:103468831T>G	ENST00000257336.1	+	4	1211	c.532T>G	c.(532-534)Tat>Gat	p.Y178D	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.I149R|BIVM_ENST00000448849.2_De_novo_Start_OutOfFrame|BIVM_ENST00000419638.1_Missense_Mutation_p.Y178D	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	178						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAGGGAAGATATCAGAAGGA	0.328																																						ENST00000448849.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25								basic, immunoglobulin-like variable motif containing							105.0	103.0	103.0					13																	103468831		2203	4297	6500	SO:0001583	missense	54841							g.chr13:103468831T>G	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.532T>G	13.37:g.103468831T>G	ENSP00000257336:p.Tyr178Asp					BIVM_ENST00000257336.1_Missense_Mutation_p.Y178D|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.I149R|BIVM_ENST00000419638.1_Missense_Mutation_p.Y178D		NM_001159596.1	NP_001153068.1					0	527	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							Q2M1J2|Q9NXM4	Translation_Start_Site	SNP	ENST00000257336.1	37		CCDS9505.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905397	0.33628	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	4.09	0.47781	.	0.591094	0.17752	N	0.163210	T	0.39118	0.1066	N	0.14661	0.345	0.80722	D	1	B;B	0.21520	0.057;0.002	B;B	0.18871	0.023;0.006	T	0.11567	-1.0582	9	0.35671	T	0.21	.	10.7974	0.46468	0.0:0.8413:0.0:0.1587	.	149;178	Q59FZ7;Q86UB2	.;BIVM_HUMAN	D	178;178;149	.	ENSP00000257336:Y178D	Y	+	1	0	ERCC5;BIVM	102266832	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	2.804000	0.47931	0.757000	0.33036	0.528000	0.53228	TAT		0.328	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			9	54	0	0	0	1	0	9	54				
SLC6A15	55117	broad.mit.edu	37	12	85255651	85255651	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr12:85255651A>T	ENST00000266682.5	-	12	2494	c.1953T>A	c.(1951-1953)aaT>aaA	p.N651K	SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.N544K	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	651					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CAGATGCTAAATTACCAGAAC	0.443																																						ENST00000266682.5																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1951-1953)aaT>aaA		solute carrier family 6 (neutral amino acid transporter), member 15							125.0	128.0	127.0					12																	85255651		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255651A>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1953T>A	12.37:g.85255651A>T	ENSP00000266682:p.Asn651Lys					SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.N544K	p.N651K	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN			12	2494	-			651					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1953T>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	A	9.149	1.015718	0.19355	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.73789	-0.58;-0.78	5.99	-0.633	0.11519	.	0.534326	0.22680	N	0.056954	T	0.41511	0.1162	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46582	-0.9181	10	0.02654	T	1	.	13.5947	0.61982	0.4622:0.0:0.5378:0.0	.	651	Q9H2J7	S6A15_HUMAN	K	651;544;129	ENSP00000266682:N651K;ENSP00000450145:N544K	ENSP00000266682:N651K	N	-	3	2	SLC6A15	83779782	0.993000	0.37304	0.992000	0.48379	0.914000	0.54420	0.372000	0.20467	-0.337000	0.08426	0.533000	0.62120	AAT		0.443	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		4	137	0	0	0	1	0	4	137				
MZT1	440145	broad.mit.edu	37	13	73293170	73293170	+	Missense_Mutation	SNP	G	G	A	rs369419420		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr13:73293170G>A	ENST00000377818.3	-	2	229	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	49					gamma-tubulin complex localization (GO:0033566)	centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCACAAAGCCGTACACAAATA	0.353																																						ENST00000377818.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(145-147)Cgg>Tgg		mitotic spindle organizing protein 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	103.0	102.0		145	5.7	1.0	13		102	0,8600		0,0,4300	no	missense	MZT1	NM_001071775.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	49/83	73293170	1,13005	2203	4300	6503	SO:0001583	missense	440145				gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr13:73293170G>A		CCDS31990.1	13q22.1	2013-08-13	2010-07-22	2010-07-22	ENSG00000204899	ENSG00000204899			33830	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1"""	613448	"""chromosome 13 open reading frame 37"""	C13orf37		20360068	Standard	NM_001071775		Approved	LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1	uc001viu.2	Q08AG7	OTTHUMG00000017069	ENST00000377818.3:c.145C>T	13.37:g.73293170G>A	ENSP00000367049:p.Arg49Trp						p.R49W	NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN			2	229	-			49					Q5W0P5	Missense_Mutation	SNP	ENST00000377818.3	37	c.145C>T	CCDS31990.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997302	0.74818	2.27E-4	0.0	ENSG00000204899	ENST00000377818	T	0.48836	0.8	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	T	0.71076	-0.4697	9	0.66056	D	0.02	-7.8554	13.3206	0.60430	0.0:0.0:0.7239:0.2761	.	49	Q08AG7	MZT1_HUMAN	W	49	ENSP00000367049:R49W	ENSP00000367049:R49W	R	-	1	2	MZT1	72191171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.846000	0.55888	2.692000	0.91855	0.591000	0.81541	CGG		0.353	MZT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045249.1	NM_001071775		4	226	0	0	0	1	0	4	226				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	56	0	0	0	1	0	4	56				
SORCS3	22986	broad.mit.edu	37	10	106937890	106937890	+	Silent	SNP	C	C	T	rs372850065		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr10:106937890C>T	ENST00000369701.3	+	14	2195	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	656					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.D656D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTTTGTTGACGGGGCTCTGG	0.473																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.D656D(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1966-1968)gaC>gaT		sortilin-related VPS10 domain containing receptor 3		C		0,4406		0,0,2203	209.0	178.0	189.0		1968	-7.2	0.1	10		189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SORCS3	NM_014978.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		656/1223	106937890	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937890C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1968C>T	10.37:g.106937890C>T						SORCS3_ENST00000369699.4_Intron	p.D656D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2195	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	656					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1968C>T	CCDS7558.1																																																																																				0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		10	40	0	0	0	1	0	10	40				
PTPRD	5789	broad.mit.edu	37	9	8317916	8317916	+	Silent	SNP	G	G	A	rs201560685		TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr9:8317916G>A	ENST00000381196.4	-	43	6240	c.5697C>T	c.(5695-5697)gcC>gcT	p.A1899A	PTPRD_ENST00000486161.1_Silent_p.A1492A|PTPRD_ENST00000397617.3_Silent_p.A1492A|PTPRD_ENST00000540109.1_Silent_p.A1899A|PTPRD_ENST00000356435.5_Silent_p.A1899A|PTPRD_ENST00000397606.3_Silent_p.A1492A|PTPRD_ENST00000397611.3_Silent_p.A1489A|PTPRD_ENST00000537002.1_Silent_p.A1489A|PTPRD_ENST00000360074.4_Silent_p.A1886A|PTPRD_ENST00000358503.5_Silent_p.A1877A|PTPRD_ENST00000355233.5_Silent_p.A1493A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1899	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCTAGTGCGGCACGATAGG	0.423										TSP Lung(15;0.13)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16645	0.001		0.0	False		,,,				2504	0.0					ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5695-5697)gcC>gcT		protein tyrosine phosphatase, receptor type, D							132.0	137.0	135.0					9																	8317916		2203	4299	6502	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8317916G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5697C>T	9.37:g.8317916G>A		TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Silent_p.A1489A|PTPRD_ENST00000360074.4_Silent_p.A1886A|PTPRD_ENST00000397617.3_Silent_p.A1492A|PTPRD_ENST00000358503.5_Silent_p.A1877A|PTPRD_ENST00000540109.1_Silent_p.A1899A|PTPRD_ENST00000537002.1_Silent_p.A1489A|PTPRD_ENST00000486161.1_Silent_p.A1492A|PTPRD_ENST00000356435.5_Silent_p.A1899A|PTPRD_ENST00000355233.5_Silent_p.A1493A|PTPRD_ENST00000397606.3_Silent_p.A1492A	p.A1899A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	43	6240	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1899			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5697C>T	CCDS43786.1																																																																																				0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			12	89	0	0	0	1	0	12	89				
C2orf16	84226	broad.mit.edu	37	2	27799861	27799861	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr2:27799861A>T	ENST00000408964.2	+	1	473	c.422A>T	c.(421-423)tAt>tTt	p.Y141F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	141						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGCCAAAGTATCAAATCCCT	0.378																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(421-423)tAt>tTt		chromosome 2 open reading frame 16							74.0	70.0	71.0					2																	27799861		1859	4104	5963	SO:0001583	missense	84226							g.chr2:27799861A>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.422A>T	2.37:g.27799861A>T	ENSP00000386190:p.Tyr141Phe						p.Y141F	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	473	+	Acute lymphoblastic leukemia(172;0.155)		141					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.422A>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736895	0.49045	.	.	ENSG00000221843	ENST00000408964	T	0.05382	3.45	4.35	-1.91	0.07641	.	.	.	.	.	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.47302	-0.9128	9	0.16420	T	0.52	.	1.0195	0.01515	0.4287:0.1617:0.0958:0.3139	.	141	Q68DN1	CB016_HUMAN	F	141	ENSP00000386190:Y141F	ENSP00000386190:Y141F	Y	+	2	0	C2orf16	27653365	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.624000	0.24462	-0.401000	0.07644	0.533000	0.62120	TAT		0.378	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		13	62	0	0	0	1	0	13	62				
RYR3	6263	broad.mit.edu	37	15	34102839	34102839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr15:34102839C>T	ENST00000389232.4	+	71	10256	c.10186C>T	c.(10186-10188)Cga>Tga	p.R3396*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R3391*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3396					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGCAAAATCGCGATACAGCCA	0.547																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(10186-10188)Cga>Tga		ryanodine receptor 3							56.0	64.0	62.0					15																	34102839		2050	4199	6249	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34102839C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10186C>T	15.37:g.34102839C>T	ENSP00000373884:p.Arg3396*					RYR3_ENST00000415757.3_Nonsense_Mutation_p.R3391*	p.R3396*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	71	10256	+		all_lung(180;7.18e-09)	3396					O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.10186C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	50	16.748490	0.99871	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.15	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1243	0.59344	0.2203:0.7797:0.0:0.0	.	.	.	.	X	3396;3396;3391	.	ENSP00000354735:R3391X	R	+	1	2	RYR3	31890131	0.993000	0.37304	0.811000	0.32455	0.003000	0.03518	3.116000	0.50399	2.667000	0.90743	0.561000	0.74099	CGA		0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	43	0	0	0	1	0	8	43				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			7	78	0	0	0	1	0	7	78				
C2orf73	129852	broad.mit.edu	37	2	54570968	54570968	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr2:54570968C>T	ENST00000398634.2	+	3	388	c.346C>T	c.(346-348)Cca>Tca	p.P116S	C2orf73_ENST00000405749.1_Missense_Mutation_p.P58S|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	116										breast(2)	2						ACTGGTTTTGCCAGTCAAACA	0.428																																						ENST00000398634.2																			0				breast(2)	2						c.(346-348)Cca>Tca		chromosome 2 open reading frame 73							64.0	66.0	66.0					2																	54570968		1876	4091	5967	SO:0001583	missense	129852							g.chr2:54570968C>T	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.346C>T	2.37:g.54570968C>T	ENSP00000381631:p.Pro116Ser					C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.P58S	p.P116S	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			3	388	+			116					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.346C>T	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141252	0.57044	.	.	ENSG00000177994	ENST00000486488;ENST00000405749;ENST00000398634;ENST00000447328	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.46	5.46	0.80206	.	0.092052	0.47455	D	0.000240	T	0.50599	0.1625	M	0.65975	2.015	0.34955	D	0.751586	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.57802	-0.7748	10	0.35671	T	0.21	-11.4576	12.3628	0.55213	0.0:0.8309:0.1691:0.0	.	58;116	B7ZM12;Q8N5S3	.;CB073_HUMAN	S	122;58;116;58	ENSP00000417971:P122S;ENSP00000385348:P58S;ENSP00000381631:P116S;ENSP00000389570:P58S	ENSP00000381631:P116S	P	+	1	0	C2orf73	54424472	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.687000	0.37680	2.838000	0.97847	0.591000	0.81541	CCA		0.428	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		3	50	0	0	0	1	0	3	50				
XKR4	114786	broad.mit.edu	37	8	56436082	56436082	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr8:56436082G>A	ENST00000327381.6	+	3	1349	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	417						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCTGGATCGTCCACTGTGA	0.483																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1249-1251)Gtc>Atc		XK, Kell blood group complex subunit-related family, member 4							277.0	236.0	250.0					8																	56436082		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436082G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1249G>A	8.37:g.56436082G>A	ENSP00000328326:p.Val417Ile						p.V417I	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1349	+			417					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1249G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409707	0.25465	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.62232	0.04	5.56	5.56	0.83823	.	0.055983	0.64402	D	0.000001	T	0.49457	0.1558	N	0.11724	0.165	0.58432	D	0.99999	P	0.52170	0.951	P	0.48270	0.572	T	0.48525	-0.9028	10	0.02654	T	1	-6.8011	19.5149	0.95159	0.0:0.0:1.0:0.0	.	417	Q5GH76	XKR4_HUMAN	I	417	ENSP00000328326:V417I	ENSP00000328326:V417I	V	+	1	0	XKR4	56598636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.618000	0.88619	0.557000	0.71058	GTC		0.483	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		28	87	0	0	0	1	0	28	87				
UFL1	23376	broad.mit.edu	37	6	96990865	96990865	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr6:96990865G>A	ENST00000369278.4	+	12	1441	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	459					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TGATGATAGTGATGATGAATC	0.378																																						ENST00000369278.4																			0											c.(1375-1377)Gat>Aat		UFM1-specific ligase 1							100.0	98.0	99.0					6																	96990865		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96990865G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1375G>A	6.37:g.96990865G>A	ENSP00000358283:p.Asp459Asn						p.D459N	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			12	1441	+			459					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1375G>A	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847125	0.71603	.	.	ENSG00000014123	ENST00000369278	T	0.50548	0.74	5.92	5.92	0.95590	.	0.084527	0.85682	D	0.000000	T	0.46308	0.1386	M	0.64404	1.975	0.80722	D	1	P	0.47191	0.891	P	0.46452	0.517	T	0.41124	-0.9526	10	0.45353	T	0.12	-13.0541	19.3156	0.94211	0.0:0.0:1.0:0.0	.	459	O94874	UFL1_HUMAN	N	459	ENSP00000358283:D459N	ENSP00000358283:D459N	D	+	1	0	KIAA0776	97097586	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	8.502000	0.90505	2.799000	0.96334	0.655000	0.94253	GAT		0.378	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		20	47	0	0	0	1	0	20	47				
DDX59	83479	broad.mit.edu	37	1	200613480	200613480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr1:200613480delC	ENST00000331314.6	-	8	1975	c.1762delG	c.(1762-1764)gaafs	p.E588fs	DDX59_ENST00000367348.3_Intron|DDX59_ENST00000447706.2_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	588						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TTCTGTTGTTCCTTTCTCTTC	0.368																																						ENST00000331314.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1762-1764)aafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							213.0	201.0	205.0					1																	200613480		2203	4300	6503	SO:0001589	frameshift_variant	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200613480delC	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1762delG	1.37:g.200613480delC	ENSP00000330460:p.Glu588fs					DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	p.E588fs	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN			8	1975	-			588					Q6PJL2|Q8IVW3|Q9H0W3	Frame_Shift_Del	DEL	ENST00000331314.6	37	c.1762delG	CCDS30964.1																																																																																				0.368	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		13	81						13	81	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209381652	209381652	+	RNA	DEL	C	C	-			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr2:209381652delC	ENST00000424628.1	+	0	103																											ATCAACAACTCTCTGCTGGTG	0.502																																						ENST00000424628.1																			0																																																			0							g.chr2:209381652delC																													2.37:g.209381652delC														0	103	+									RNA	DEL	ENST00000424628.1	37																																																																																						0.502	AC019185.4-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000340405.1			2	4						2	4	---	---	---	---
MCTP1	79772	broad.mit.edu	37	5	94288922	94288922	+	Splice_Site	DEL	C	C	-			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr5:94288922delC	ENST00000515393.1	-	3	981		c.e3+1		MCTP1_ENST00000429576.2_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AAATGGCTCACCTTTATATAC	0.363																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.e3+1		multiple C2 domains, transmembrane 1							79.0	74.0	75.0					5																	94288922		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94288922delC		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.981+1G>-	5.37:g.94288922delC						MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000429576.2_Splice_Site		NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	3	981	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)						Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	DEL	ENST00000515393.1	37		CCDS34203.1																																																																																				0.363	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Intron	8	50						8	50	---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108214774	108214774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A8IM-01A-11D-A364-08	TCGA-KK-A8IM-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6	ec655621-f470-4bca-ad72-e570cd3c3a42	g.chr6:108214774delT	ENST00000369002.4	-	16	1765	c.1586delA	c.(1585-1587)aagfs	p.K530fs		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	530	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.K529fs*4(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TAAAGGTTTCTTTTTTTTTGA	0.368																																						ENST00000369002.4																			1	Deletion - Frameshift(1)	p.K529fs*4(1)	ovary(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1585-1587)agfs		SEC63 homolog (S. cerevisiae)							118.0	123.0	121.0					6																	108214774		2202	4300	6502	SO:0001589	frameshift_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214774delT	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1586delA	6.37:g.108214774delT	ENSP00000357998:p.Lys530fs						p.K530fs	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1765	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	530			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Frame_Shift_Del	DEL	ENST00000369002.4	37	c.1586delA	CCDS5061.1																																																																																				0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	132						7	132	---	---	---	---
