#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
RAD51B	5890	broad.mit.edu	37	14	68290333	68290334	+	In_Frame_Ins	INS	-	-	AGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAG			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:68290333_68290334insAGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAG	ENST00000487270.1	+	2	121_122	c.73_74insAGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAG	c.(73-75)ctt>cAGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAGtt	p.25_25L>QQRKEEP*KKQQNIT*V	RAD51B_ENST00000488612.1_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V|RAD51B_ENST00000487861.1_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V|RAD51B_ENST00000471583.1_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V|RAD51B_ENST00000390683.3_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	25	Interaction with RAD51C.				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						ACATCAGATCCTTACCTGTCAG	0.342								Direct reversal of damage																														ENST00000487270.1		NA																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.(73-75)ctt>cAGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAGtt	Direct reversal of damage	RAD51 paralog B																																				SO:0001652	inframe_insertion	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68290333_68290334insAGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAG	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	Exception_encountered	14.37:g.68290333_68290334insAGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAG	ENSP00000419471:p.Leu25delinsGlnGlnArgLysGluGluPro*LysLysGlnGlnAsnIleThr*Val	False	False		Somatic	0				RAD51B_ENST00000471583.1_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V|RAD51B_ENST00000487861.1_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V|RAD51B_ENST00000488612.1_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V|RAD51B_ENST00000390683.3_In_Frame_Ins_p.25_25L>QQRKEEP*KKQQNIT*V	p.25_25L>QQRKEEP*KKQQNIT*V	NM_133509.3	NP_598193.2	WXS	Illumina HiSeq	Phase_I	O15315	RA51B_HUMAN			2	121_122	+			25					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	In_Frame_Ins	INS	ENST00000487270.1	37	c.73_74insAGCAAAGAAAAGAAGAACCATGAAAAAAACAACAGAATATAACATAAG	CCDS9789.1																																																																																				0.342	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1	0			14:68290333
PACS2	23241	broad.mit.edu	37	14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000325438.8	+	3	792_794	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	PACS2_ENST00000458164.2_In_Frame_Del_p.S97del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	97					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGACCTTCTCCTTGCAGGTG	0.616											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325438.8		NA																	0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(286-291)ttctcc>ttc		phosphofurin acidic cluster sorting protein 2																																				SO:0001651	inframe_deletion	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818795_105818797delCTC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.288_290delCTC	14.37:g.105818795_105818797delCTC	ENSP00000321834:p.Ser97del	False	False		Somatic	1	OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del	p.S97del			WXS	Illumina HiSeq	Phase_I	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	792_794	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	97					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	In_Frame_Del	DEL	ENST00000325438.8	37	c.288_290delCTC	CCDS32168.1																																																																																				0.616	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	0	XM_377355		14:105818795
ZNF470	388566	broad.mit.edu	37	19	57089013	57089014	+	In_Frame_Ins	INS	-	-	TAA			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57089013_57089014insTAA	ENST00000330619.8	+	6	1902_1903	c.1216_1217insTAA	c.(1216-1218)ttc>tTAAtc	p.406_406F>LI	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGGGAAGGCTTTCACTGATCAC	0.426																																						ENST00000330619.8		NA																	0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1216-1218)ttc>tTAAtc		zinc finger protein 470																																				SO:0001652	inframe_insertion	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089013_57089014insTAA	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		Exception_encountered	19.37:g.57089013_57089014insTAA	ENSP00000333223:p.Phe406delinsLeuIle	True	False		Somatic	0				ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI|ZNF470_ENST00000601902.1_Intron	p.406_406F>LI	NM_001001668.3	NP_001001668.3	WXS	Illumina HiSeq	Phase_I	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1902_1903	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	406					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	In_Frame_Ins	INS	ENST00000330619.8	37	c.1216_1217insTAA	CCDS33122.1																																																																																				0.426	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	0	NM_001001668		19:57089013
CROCCP2	84809	broad.mit.edu	37	1	16945368	16945370	+	lincRNA	DEL	GAG	GAG	-	rs71270819	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:16945368_16945370delGAG	ENST00000412962.1	-	0	2149_2151				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GAGAGAGGAAGAGGAGTCCGCCA	0.591																																						ENST00000412962.1		NA																	0					NA																																														0							g.chr1:16945368_16945370delGAG	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945371_16945373delGAG		True	False		Somatic	2								WXS	Illumina HiSeq	Phase_I					0	2149_2151	-			NA					Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.591	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	0	NR_026752.1		1:16945368
RAPH1	65059	broad.mit.edu	37	2	204354426	204354427	+	Frame_Shift_Ins	INS	-	-	GAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:204354426_204354427insGAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA	ENST00000319170.5	-	4	911_912	c.612_613insTTAATAACAAAATACCAGGGAAAAAGTTCCATTTATTTACCTC	c.(610-615)attagtfs	p.S205fs	RAPH1_ENST00000308091.4_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000439222.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374493.3_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000419464.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000418114.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374488.2_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000423104.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374489.2_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000453034.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000457812.1_Frame_Shift_Ins_p.S205fs	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	205					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAATTACTAATAGAGTGTA	0.45																																						ENST00000319170.5		NA																	0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(610-615)attagtfs		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1																																				SO:0001589	frameshift_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204354426_204354427insGAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.612_613insTTAATAACAAAATACCAGGGAAAAAGTTCCATTTATTTACCTC	2.37:g.204354426_204354427insGAGGTAAATAAATGGAACTTTTTCCCTGGTATTTTGTTATTAA	ENSP00000316543:p.Ser205fs	False	False		Somatic	0				RAPH1_ENST00000423104.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000308091.4_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000418114.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374489.2_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000419464.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000453034.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000439222.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000457812.1_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374488.2_Frame_Shift_Ins_p.S205fs|RAPH1_ENST00000374493.3_Frame_Shift_Ins_p.S205fs	p.S205fs	NM_213589.1	NP_998754.1	WXS	Illumina HiSeq	Phase_I	Q70E73	RAPH1_HUMAN			4	911_912	-			205					Q96Q37|Q9C0I2	Frame_Shift_Ins	INS	ENST00000319170.5	37	c.612_613insTTAATAACAAAATACCAGGGAAAAAGTTCCATTTATTTACCTC	CCDS2359.1																																																																																				0.450	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	0	NM_025252		2:204354426
HSD17B11	51170	broad.mit.edu	37	4	88293960	88293961	+	Frame_Shift_Ins	INS	-	-	ACCTTGTGTGTGAGATTTC			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88293960_88293961insACCTTGTGTGTGAGATTTC	ENST00000358290.4	-	4	772_773	c.457_458insGAAATCTCACACACAAGGT	c.(457-459)aagfs	p.K153fs	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Frame_Shift_Ins_p.K109fs	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	153					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AAGAAATGCCTTTGTAGTCTAC	0.371																																						ENST00000358290.4		NA																	0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(457-459)aagfs		hydroxysteroid (17-beta) dehydrogenase 11																																				SO:0001589	frameshift_variant	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88293960_88293961insACCTTGTGTGTGAGATTTC	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.457_458insGAAATCTCACACACAAGGT	4.37:g.88293960_88293961insACCTTGTGTGTGAGATTTC	ENSP00000351035:p.Lys153fs	True	False		Somatic	0				HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Frame_Shift_Ins_p.K109fs	p.K153fs	NM_016245.3	NP_057329.2	WXS	Illumina HiSeq	Phase_I	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	4	772_773	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	153					Q96HF6|Q9UKU4	Frame_Shift_Ins	INS	ENST00000358290.4	37	c.457_458insGAAATCTCACACACAAGGT	CCDS3619.1																																																																																				0.371	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	0	NM_016245		4:88293960
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
BAI3	577	broad.mit.edu	37	6	69728368	69728369	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:69728368_69728369insG	ENST00000370598.1	+	13	2905_2906	c.2084_2085insG	c.(2083-2088)tcatacfs	p.Y696fs		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	696					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTCAGAATTCATACTTAATGA	0.327																																						ENST00000370598.1		NA																	0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2083-2088)tcatacfs		brain-specific angiogenesis inhibitor 3																																				SO:0001589	frameshift_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69728368_69728369insG	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	Exception_encountered	6.37:g.69728368_69728369insG	ENSP00000359630:p.Tyr696fs	False	False		Somatic	0					p.Y696fs	NM_001704.2	NP_001695.1	WXS	Illumina HiSeq	Phase_I	O60242	BAI3_HUMAN			13	2905_2906	+		all_lung(197;0.212)	696					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Frame_Shift_Ins	INS	ENST00000370598.1	37	c.2084_2085insG	CCDS4968.1																																																																																				0.327	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	0			6:69728368
PHIP	55023	broad.mit.edu	37	6	79735751	79735752	+	Frame_Shift_Ins	INS	-	-	AGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:79735751_79735752insAGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG	ENST00000275034.4	-	8	897_898	c.730_731insCAACAACAACAATGTATAGGGATTAAGACAATTACCT	c.(730-732)agtfs	p.S244fs		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	244					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTATCACAACTTCCAGCTGCT	0.441																																						ENST00000275034.4		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(730-732)agtfs		pleckstrin homology domain interacting protein																																				SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79735751_79735752insAGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.730_731insCAACAACAACAATGTATAGGGATTAAGACAATTACCT	6.37:g.79735751_79735752insAGGTAATTGTCTTAATCCCTATACATTGTTGTTGTTG	ENSP00000275034:p.Ser244fs	False	False		Somatic	0					p.S244fs	NM_017934.5	NP_060404.3	WXS	Illumina HiSeq	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	8	897_898	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	244					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Ins	INS	ENST00000275034.4	37	c.730_731insCAACAACAACAATGTATAGGGATTAAGACAATTACCT	CCDS4987.1																																																																																				0.441	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	0			6:79735751
PRSS3	5646	broad.mit.edu	37	9	33796802	33796803	+	Splice_Site	INS	-	-	TGG			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:33796802_33796803insTGG	ENST00000361005.5	+	2	371		c.e2+2		PRSS3_ENST00000429677.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000379405.3_Splice_Site	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTACAAGACGTAAGTGTGGGGC	0.594																																						ENST00000361005.5		NA																	0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.e2+2		protease, serine, 3																																				SO:0001630	splice_region_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33796802_33796803insTGG		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.371+2->TGG	9.37:g.33796802_33796803insTGG		False	False		Somatic	0				PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000429677.3_Splice_Site|PRSS3_ENST00000379405.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA		NM_007343.3	NP_031369.2	WXS	Illumina HiSeq	Phase_I	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	371	+			NA					A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	INS	ENST00000361005.5	37		CCDS47958.1																																																																																				0.594	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	0	NM_002771	Intron	9:33796802
ACOXL	55289	broad.mit.edu	37	2	111556628	111556628	+	Silent	SNP	C	C	T	rs200491300		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:111556628C>T	ENST00000389811.4	+	7	722	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ACOXL_ENST00000439055.1_Silent_p.N166N|ACOXL_ENST00000340561.4_Silent_p.N166N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	166					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGATGAAAACGGAAGCTTGT	0.502																																						ENST00000389811.4		NA																	0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(496-498)aaC>aaT		acyl-CoA oxidase-like		C		0,4406		0,0,2203	165.0	139.0	148.0		498	-10.7	0.1	2		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACOXL	NM_001142807.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		166/581	111556628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111556628C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.498C>T	2.37:g.111556628C>T		True	False		Somatic	0				ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N	p.N166N			WXS	Illumina HiSeq	Phase_I	Q9NUZ1	ACOXL_HUMAN			7	722	+			166					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.498C>T		.	.	.	.	.	.	.	.	.	.	C	8.179	0.793474	0.16327	0.0	1.16E-4	ENSG00000153093	ENST00000422487	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.45662	D	0.998582	.	.	.	.	.	.	T	0.77075	-0.2722	5	0.87932	D	0	-22.6667	9.5339	0.39211	0.0906:0.5713:0.0924:0.2458	.	.	.	.	M	18	.	ENSP00000404255:T18M	T	+	2	0	ACOXL	111273099	0.078000	0.21339	0.094000	0.20943	0.932000	0.56968	-1.471000	0.02344	-2.880000	0.00319	-0.961000	0.02630	ACG		0.502	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	0	NM_018308		2:111556628
ANO5	203859	broad.mit.edu	37	11	22281145	22281145	+	Silent	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:22281145A>G	ENST00000324559.8	+	15	1805	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	496					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTCATGGAAAGTGATGCAT	0.413																																						ENST00000324559.8		NA																	0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1486-1488)gaA>gaG		anoctamin 5							228.0	196.0	207.0					11																	22281145		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22281145A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1488A>G	11.37:g.22281145A>G		True	False		Somatic	0					p.E496E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	WXS	Illumina HiSeq	Phase_I	Q75V66	ANO5_HUMAN			15	1805	+			496						Silent	SNP	ENST00000324559.8	37	c.1488A>G	CCDS31444.1																																																																																				0.413	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	0	NM_213599		11:22281145
MAP3K19	80122	broad.mit.edu	37	2	135745297	135745297	+	Missense_Mutation	SNP	T	T	C	rs138047676		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:135745297T>C	ENST00000375845.3	-	7	1175	c.1145A>G	c.(1144-1146)cAa>cGa	p.Q382R	MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	382							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTCTGGATCTTGTTCATAGTT	0.373																																						ENST00000375845.3		NA																	0					NA						c.(1144-1146)cAa>cGa		mitogen-activated protein kinase kinase kinase 19		T	,ARG/GLN	0,4406		0,0,2203	80.0	78.0	79.0		,1145	2.4	0.0	2	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,43	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,benign	,382/1329	135745297	1,13005	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135745297T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1145A>G	2.37:g.135745297T>C	ENSP00000365005:p.Gln382Arg	False	False		Somatic	0				MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R|MAP3K19_ENST00000392917.3_Intron	p.Q382R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	WXS	Illumina HiSeq	Phase_I					7	1175	-			NA					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1145A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	5.220	0.226143	0.09916	0.0	1.16E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.71579	-0.58;-0.56;1.77	4.87	2.43	0.29744	.	0.173300	0.27797	N	0.017810	T	0.53449	0.1797	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.24721	0.023;0.11;0.006	B;B;B	0.23419	0.01;0.046;0.003	T	0.43750	-0.9372	10	0.45353	T	0.12	.	4.2146	0.10528	0.1483:0.1641:0.0:0.6876	.	269;399;382	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	R	382;269;399	ENSP00000365005:Q382R;ENSP00000351140:Q269R;ENSP00000376647:Q399R	ENSP00000351140:Q269R	Q	-	2	0	YSK4	135461767	0.002000	0.14202	0.008000	0.14137	0.243000	0.25628	0.664000	0.25068	0.326000	0.23384	0.528000	0.53228	CAA		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	0	NM_025052		2:135745297
OR5M3	219482	broad.mit.edu	37	11	56237570	56237570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:56237570G>C	ENST00000312240.2	-	1	444	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACAACCCTTGACATTTTACT	0.408																																						ENST00000312240.2		NA																	0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(403-405)tCa>tGa		olfactory receptor, family 5, subfamily M, member 3							95.0	89.0	91.0					11																	56237570		2201	4290	6491	SO:0001587	stop_gained	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237570G>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.404C>G	11.37:g.56237570G>C	ENSP00000312208:p.Ser135*	False	False		Somatic	0					p.S135*	NM_001004742.2	NP_001004742.2	WXS	Illumina HiSeq	Phase_I	Q8NGP4	OR5M3_HUMAN			1	444	-	Esophageal squamous(21;0.00448)		135					B2RNM7|Q6IEW4|Q96RC0	Nonsense_Mutation	SNP	ENST00000312240.2	37	c.404C>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502469	0.64298	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.13	4.15	0.48705	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6464	11.3494	0.49579	0.0:0.0:0.692:0.308	.	.	.	.	X	135	.	ENSP00000312208:S135X	S	-	2	0	OR5M3	55994146	0.250000	0.23951	0.977000	0.42913	0.808000	0.45660	0.644000	0.24766	2.381000	0.81170	0.478000	0.44815	TCA		0.408	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	0	NM_001004742		11:56237570
LIPE	3991	broad.mit.edu	37	19	42912459	42912459	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42912459G>A	ENST00000244289.4	-	3	1711	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	479					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.R479W(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGAATGGCCGGATGGCAGGC	0.627																																						ENST00000244289.4		NA																	1	Substitution - Missense(1)	p.R479W(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1435-1437)Cgg>Tgg		lipase, hormone-sensitive							146.0	134.0	138.0					19																	42912459		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912459G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1435C>T	19.37:g.42912459G>A	ENSP00000244289:p.Arg479Trp	False	False		Somatic	0				LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR	p.R479W	NM_005357.2	NP_005348.2	WXS	Illumina HiSeq	Phase_I	Q05469	LIPS_HUMAN			3	1711	-		Prostate(69;0.00682)	479					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1435C>T	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263241	0.59431	.	.	ENSG00000079435	ENST00000244289	T	0.38722	1.12	4.32	2.02	0.26589	Hormone-sensitive lipase, N-terminal (1);	0.087086	0.42821	D	0.000649	T	0.63117	0.2484	M	0.80847	2.515	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.65191	-0.6228	10	0.66056	D	0.02	-18.1983	11.7483	0.51832	0.0:0.0:0.6491:0.3509	.	479;479	A8K8W7;Q05469	.;LIPS_HUMAN	W	479	ENSP00000244289:R479W	ENSP00000244289:R479W	R	-	1	2	LIPE	47604299	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.122000	0.57910	0.307000	0.22880	0.561000	0.74099	CGG		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	0	NM_005357		19:42912459
KCNN4	3783	broad.mit.edu	37	19	44280710	44280710	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:44280710G>C	ENST00000262888.3	-	2	633	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	80					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCTTTGGCATGAAAGGCCACG	0.592																																						ENST00000262888.3		NA																	0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(238-240)Cat>Gat		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						82.0	71.0	75.0					19																	44280710		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44280710G>C	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.238C>G	19.37:g.44280710G>C	ENSP00000262888:p.His80Asp	True	False		Somatic	0					p.H80D	NM_002250.2	NP_002241.1	WXS	Illumina HiSeq	Phase_I	O15554	KCNN4_HUMAN			2	633	-		Prostate(69;0.0352)	80					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.238C>G	CCDS12630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400039|3.400039	0.62177|0.62177	.|.	.|.	ENSG00000104783|ENSG00000104783	ENST00000262888|ENST00000407385	D|.	0.99907|.	-7.79|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Potassium channel, calcium-activated, SK, conserved region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72269|.	0.3439|.	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.61697|.	0.99|.	P|.	0.62089|.	0.898|.	T|.	0.75969|.	-0.3130|.	10|.	0.87932|0.62326	D|D	0|0.03	-18.4681|-18.4681	11.8767|11.8767	0.52552|0.52552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80|.	O15554|.	KCNN4_HUMAN|.	D|X	80|18	ENSP00000262888:H80D|.	ENSP00000262888:H80D|ENSP00000384427:S18X	H|S	-|-	1|2	0|0	KCNN4|KCNN4	48972550|48972550	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.782000|0.782000	0.44232|0.44232	8.720000|8.720000	0.91442|0.91442	1.711000|1.711000	0.51337|0.51337	0.549000|0.549000	0.68633|0.68633	CAT|TCA		0.592	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	0	NM_002250		19:44280710
NPIPB6	728741	broad.mit.edu	37	16	28354107	28354107	+	Missense_Mutation	SNP	C	C	T	rs543198032		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:28354107C>T	ENST00000532254.1	-	7	1784	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	NPIPB6_ENST00000533640.1_Missense_Mutation_p.E349K	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	367																	TGTTCCACctcatccaccctc	0.557																																						ENST00000532254.1		NA																	0					NA						c.(1099-1101)Gag>Aag		nuclear pore complex interacting protein family, member B6																																				SO:0001583	missense	728741							g.chr16:28354107C>T		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.1099G>A	16.37:g.28354107C>T	ENSP00000431871:p.Glu367Lys	False	False		Somatic	0				NPIPB6_ENST00000533640.1_Missense_Mutation_p.E349K	p.E367K	NM_001282524.1	NP_001269453.1	WXS	Illumina HiSeq	Phase_I					7	1784	-			NA						Missense_Mutation	SNP	ENST00000532254.1	37	c.1099G>A		.	.	.	.	.	.	.	.	.	.	-	6.494	0.459409	0.12342	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.57273	0.41;0.41	.	.	.	.	.	.	.	.	T	0.33498	0.0865	N	0.19112	0.55	0.09310	N	1	B;B	0.20459	0.045;0.012	B;B	0.23574	0.047;0.01	T	0.24621	-1.0155	7	0.41790	T	0.15	.	.	.	.	.	367;349	E9PJ23;E9PS57	.;.	K	349;367	ENSP00000435924:E349K;ENSP00000431871:E367K	ENSP00000431871:E367K	E	-	1	0	RP11-57A19.3	28261608	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	GAG		0.557	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	0	XM_001717652		16:28354107
TRIB3	57761	broad.mit.edu	37	20	372045	372045	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:372045T>C	ENST00000217233.3	+	3	959	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCTCTACGCCTTTTTCACTCG	0.672																																					Melanoma(101;421 2374 19538)	ENST00000217233.3		NA																	0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(406-408)Ttt>Ctt		tribbles pseudokinase 3							46.0	41.0	43.0					20																	372045		2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:372045T>C	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.406T>C	20.37:g.372045T>C	ENSP00000217233:p.Phe136Leu	True	False		Somatic	0				TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L	p.F136L	NM_021158.3	NP_066981.2	WXS	Illumina HiSeq	Phase_I	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	3	959	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	136			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.406T>C	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243577	0.39697	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.18657	2.2;2.26;2.2	5.24	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132959	0.35179	N	0.003396	T	0.17619	0.0423	L	0.42744	1.35	0.43122	D	0.994847	P;B	0.36753	0.568;0.414	B;B	0.33690	0.168;0.168	T	0.02975	-1.1087	10	0.52906	T	0.07	-8.7089	10.5208	0.44918	0.0:0.0:0.1628:0.8372	.	163;136	B4DMM9;Q96RU7	.;TRIB3_HUMAN	L	136;136;163	ENSP00000217233:F136L;ENSP00000391873:F136L;ENSP00000415416:F163L	ENSP00000217233:F136L	F	+	1	0	TRIB3	320045	1.000000	0.71417	0.782000	0.31804	0.224000	0.24922	4.099000	0.57755	0.984000	0.38629	0.459000	0.35465	TTT		0.672	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	0	NM_021158		20:372045
TAOK1	57551	broad.mit.edu	37	17	27807459	27807459	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:27807459A>T	ENST00000261716.3	+	7	1042	c.523A>T	c.(523-525)Atg>Ttg	p.M175L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTCTGCTTCCATGGCATCACC	0.418																																						ENST00000261716.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(523-525)Atg>Ttg		TAO kinase 1							106.0	92.0	96.0					17																	27807459		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27807459A>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.523A>T	17.37:g.27807459A>T	ENSP00000261716:p.Met175Leu	False	False		Somatic	0				TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	p.M175L	NM_020791.2	NP_065842.1	WXS	Illumina HiSeq	Phase_I	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		7	1042	+			175			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.523A>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610191	0.46527	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.63417	-0.04;-0.04	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081007	0.85682	D	0.000000	T	0.39226	0.1070	N	0.02973	-0.45	0.42825	D	0.994006	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.27640	-1.0068	10	0.31617	T	0.26	.	15.3559	0.74425	1.0:0.0:0.0:0.0	.	175;1;175	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	L	175	ENSP00000261716:M175L;ENSP00000438819:M175L	ENSP00000261716:M175L	M	+	1	0	TAOK1	24831585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.169000	0.77578	2.100000	0.63781	0.477000	0.44152	ATG		0.418	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	0	NM_020791		17:27807459
ABCA10	10349	broad.mit.edu	37	17	67183986	67183986	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:67183986C>A	ENST00000269081.4	-	20	3075	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	722					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTTCTTGTCACATGTATTT	0.348																																						ENST00000269081.4		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2164-2166)gtG>gtT		ATP-binding cassette, sub-family A (ABC1), member 10							153.0	145.0	147.0					17																	67183986		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67183986C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2166G>T	17.37:g.67183986C>A		False	False		Somatic	0				ABCA10_ENST00000416101.2_3'UTR	p.V722V	NM_080282.3	NP_525021.3	WXS	Illumina HiSeq	Phase_I	Q8WWZ4	ABCAA_HUMAN			20	3075	-	Breast(10;6.95e-12)		722					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.2166G>T	CCDS11684.1																																																																																				0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	0	NM_080282		17:67183986
GALNT1	2589	broad.mit.edu	37	18	33289706	33289706	+	Missense_Mutation	SNP	G	G	A	rs368892040		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:33289706G>A	ENST00000269195.5	+	11	1755	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	551	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGGCTTCTTCGAAACGTCACC	0.453																																						ENST00000269195.5		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(1651-1653)cGa>cAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)		G	GLN/ARG	0,4406		0,0,2203	63.0	60.0	61.0		1652	5.6	1.0	18		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT1	NM_020474.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	551/560	33289706	1,13005	2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33289706G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1652G>A	18.37:g.33289706G>A	ENSP00000269195:p.Arg551Gln	True	False		Somatic	0				GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	p.R551Q	NM_020474.3	NP_065207.2	WXS	Illumina HiSeq	Phase_I	Q10472	GALT1_HUMAN			11	1755	+			551			Ricin B-type lectin.		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.1652G>A	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767083	0.49574	0.0	1.16E-4	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.78003	-1.14;-1.14	5.59	5.59	0.84812	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	N	0.12182	0.205	0.80722	D	1	B	0.18166	0.026	B	0.06405	0.002	T	0.59558	-0.7432	10	0.41790	T	0.15	.	17.0846	0.86608	0.0:0.0:1.0:0.0	.	551	Q10472	GALT1_HUMAN	Q	551;551;491	ENSP00000269195:R551Q;ENSP00000440910:R491Q	ENSP00000269195:R551Q	R	+	2	0	GALNT1	31543704	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.556000	0.98127	2.622000	0.88805	0.637000	0.83480	CGA		0.453	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	0	NM_020474		18:33289706
SCN3A	6328	broad.mit.edu	37	2	165953881	165953881	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:165953881C>A	ENST00000360093.3	-	23	4611	c.4120G>T	c.(4120-4122)Gac>Tac	p.D1374Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1374					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACTAATGTCAAACATGTTA	0.423																																						ENST00000360093.3		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4120-4122)Gac>Tac		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						140.0	122.0	128.0					2																	165953881		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953881C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4120G>T	2.37:g.165953881C>A	ENSP00000353206:p.Asp1374Tyr	True	False		Somatic	0				SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y	p.D1374Y	NM_001081677.1	NP_001075146.1	WXS	Illumina HiSeq	Phase_I	Q9NY46	SCN3A_HUMAN			23	4611	-			1374					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4120G>T		.	.	.	.	.	.	.	.	.	.	C	15.01	2.705927	0.48412	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96522	-4.04;-4.04;-3.98;-3.8	5.72	1.94	0.25998	Ion transport (1);	0.992515	0.08199	N	0.982552	D	0.97470	0.9172	M	0.80332	2.49	0.80722	D	1	P;P;B;B;P	0.41910	0.764;0.642;0.25;0.25;0.722	P;B;B;B;P	0.58130	0.833;0.353;0.173;0.173;0.743	D	0.92897	0.6336	10	0.72032	D	0.01	.	6.9439	0.24508	0.0:0.6271:0.1154:0.2575	.	1374;1325;1325;1325;1374	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1374;1374;1325;1325	ENSP00000353206:D1374Y;ENSP00000283254:D1374Y;ENSP00000386726:D1325Y;ENSP00000403348:D1325Y	ENSP00000283254:D1374Y	D	-	1	0	SCN3A	165662127	1.000000	0.71417	0.488000	0.27440	0.504000	0.33889	1.422000	0.34826	0.149000	0.19098	-0.812000	0.03155	GAC		0.423	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_006922		2:165953881
FAM105A	54491	broad.mit.edu	37	5	14610393	14610393	+	Silent	SNP	C	C	T	rs200729060	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	347	OTU.							p.N347N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGACCGAGAACGACCGCCACT	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		15262	0.0		0.001	False		,,,				2504	0.001					ENST00000274217.3		NA																	1	Substitution - coding silent(1)	p.N347N(1)	lung(1)	large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1039-1041)aaC>aaT		family with sequence similarity 105, member A							45.0	48.0	47.0					5																	14610393		2203	4300	6503	SO:0001819	synonymous_variant	54491							g.chr5:14610393C>T		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.1041C>T	5.37:g.14610393C>T		False	False		Somatic	0					p.N347N	NM_019018.2	NP_061891.1	WXS	Illumina HiSeq	Phase_I	Q9NUU6	F105A_HUMAN			8	1161	+	Lung NSC(4;0.00592)		347					Q53H50|Q9H037	Silent	SNP	ENST00000274217.3	37	c.1041C>T	CCDS3884.1																																																																																				0.532	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	0	NM_019018		5:14610393
PTPRF	5792	broad.mit.edu	37	1	44069850	44069850	+	Silent	SNP	G	G	A	rs570067770		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44069850G>A	ENST00000359947.4	+	16	3367	c.3027G>A	c.(3025-3027)ccG>ccA	p.P1009P	PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P999P(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGACCATGCCGGTGGAGCAAG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		22254	0.0		0.001	False		,,,				2504	0.0					ENST00000359947.4		NA																	1	Substitution - coding silent(1)	p.P999P(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3025-3027)ccG>ccA		protein tyrosine phosphatase, receptor type, F							63.0	59.0	60.0					1																	44069850		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069850G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3027G>A	1.37:g.44069850G>A		False	False		Somatic	0				PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000496447.1_3'UTR	p.P1009P	NM_002840.3	NP_002831.2	WXS	Illumina HiSeq	Phase_I	P10586	PTPRF_HUMAN			16	3367	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1009					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3027G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698940|-1.698940	0.00725|0.00725	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.92|4.92	-9.55|-9.55	0.00569|0.00569	.|.	.|.	.|.	.|.	.|.	T|T	0.32164|0.32164	0.0820|0.0820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	.|.	1.4878|1.4878	0.02451|0.02451	0.3792:0.1043:0.1405:0.376|0.3792:0.1043:0.1405:0.376	.|.	.|.	.|.	.|.	S|Q	423|655	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43842437|43842437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-3.041000|-3.041000	0.00632|0.00632	-1.978000|-1.978000	0.00993|0.00993	-4.209000|-4.209000	0.00009|0.00009	GGT|CGG		0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0			1:44069850
RAD54L	8438	broad.mit.edu	37	1	46739341	46739341	+	Missense_Mutation	SNP	G	G	A	rs372456315		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46739341G>A	ENST00000371975.4	+	14	2206	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	511	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACCCGAAGCCGTAGCAGTGAC	0.542								Direct reversal of damage;Homologous recombination																														ENST00000371975.4		NA																	0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1531-1533)cGt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	70.0	75.0	73.0		1532,1532	3.0	0.9	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_003579.3,NM_001142548.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	511/748,511/748	46739341	1,13005	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739341G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1532G>A	1.37:g.46739341G>A	ENSP00000361043:p.Arg511His	False	False		Somatic	0				RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	p.R511H	NM_003579.3	NP_003570.2	WXS	Illumina HiSeq	Phase_I	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2206	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	511			Helicase C-terminal.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1532G>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893653	0.52121	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75367	-0.93;-0.93	4.94	2.99	0.34606	Helicase, C-terminal (1);	0.260402	0.43260	D	0.000586	T	0.55033	0.1895	N	0.17564	0.495	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.52328	-0.8590	10	0.45353	T	0.12	0.0048	7.8659	0.29537	0.0986:0.3489:0.5525:0.0	.	331;511	G3V1N0;Q92698	.;RAD54_HUMAN	H	511;511;331	ENSP00000396113:R511H;ENSP00000361043:R511H	ENSP00000361043:R511H	R	+	2	0	RAD54L	46511928	1.000000	0.71417	0.888000	0.34837	0.852000	0.48524	4.373000	0.59537	1.341000	0.45600	-0.259000	0.10710	CGT		0.542	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	0	NM_003579		1:46739341
KIF26B	55083	broad.mit.edu	37	1	245318761	245318761	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:245318761C>T	ENST00000407071.2	+	1	475	c.35C>T	c.(34-36)gCg>gTg	p.A12V		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	12					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGAGGCTTGCGGTCTCCACC	0.567																																						ENST00000407071.2		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(34-36)gCg>gTg		kinesin family member 26B							53.0	62.0	59.0					1																	245318761		1888	4115	6003	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245318761C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.35C>T	1.37:g.245318761C>T	ENSP00000385545:p.Ala12Val	False	False		Somatic	0					p.A12V	NM_018012.3	NP_060482.2	WXS	Illumina HiSeq	Phase_I	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		1	475	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		12					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.35C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119533	0.94385	.	.	ENSG00000162849	ENST00000407071	T	0.78481	-1.18	5.17	5.17	0.71159	.	.	.	.	.	T	0.81351	0.4804	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.84531	0.0633	9	0.72032	D	0.01	.	18.6542	0.91445	0.0:1.0:0.0:0.0	.	12	Q2KJY2	KI26B_HUMAN	V	12	ENSP00000385545:A12V	ENSP00000385545:A12V	A	+	2	0	KIF26B	243385384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.868000	0.56055	2.395000	0.81488	0.561000	0.74099	GCG		0.567	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	0	XM_371354		1:245318761
ADAMTS16	170690	broad.mit.edu	37	5	5235183	5235183	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:5235183A>G	ENST00000274181.7	+	13	2045	c.1907A>G	c.(1906-1908)aAc>aGc	p.N636S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	636	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGCTCTGCAACAGTCAGAAA	0.502																																						ENST00000274181.7		NA																	0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1906-1908)aAc>aGc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							72.0	76.0	75.0					5																	5235183		1942	4134	6076	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235183A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1907A>G	5.37:g.5235183A>G	ENSP00000274181:p.Asn636Ser	False	False		Somatic	0				ADAMTS16_ENST00000513709.1_3'UTR	p.N636S	NM_139056.2	NP_620687.2	WXS	Illumina HiSeq	Phase_I	Q8TE57	ATS16_HUMAN			13	2045	+			636			TSP type-1 1.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1907A>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595341	0.66219	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05319	3.46	4.67	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.80422	2.495	0.58432	D	0.999993	P;P	0.50528	0.805;0.936	P;P	0.55713	0.492;0.782	T	0.00423	-1.1748	10	0.56958	D	0.05	.	6.7912	0.23701	0.7648:0.1522:0.083:0.0	.	636;636	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	636	ENSP00000274181:N636S	ENSP00000274181:N636S	N	+	2	0	ADAMTS16	5288183	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	4.860000	0.62961	0.243000	0.21327	0.533000	0.62120	AAC		0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	NM_139056		5:5235183
PEX19	5824	broad.mit.edu	37	1	160250012	160250012	+	Missense_Mutation	SNP	G	G	A	rs367813991		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:160250012G>A	ENST00000368072.5	-	6	640	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	PEX19_ENST00000440949.3_Missense_Mutation_p.R117W|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W|DCAF8_ENST00000608310.1_Missense_Mutation_p.R60W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	207					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGATTCCCGATGACTCTGC	0.428																																						ENST00000368072.5		NA																	0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(619-621)Cgg>Tgg		peroxisomal biogenesis factor 19							144.0	143.0	143.0					1																	160250012		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160250012G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.619C>T	1.37:g.160250012G>A	ENSP00000357051:p.Arg207Trp	True	False		Somatic	0				DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W|PEX19_ENST00000440949.3_Missense_Mutation_p.R117W|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Missense_Mutation_p.R60W	p.R207W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	WXS	Illumina HiSeq	Phase_I			BRCA - Breast invasive adenocarcinoma(70;0.111)		6	640	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		NA					D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.619C>T	CCDS1201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976964|3.976964	0.74360|0.74360	.|.	.|.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735|ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220|ENST00000495624	T;T|.	0.65549|.	-0.16;-0.16|.	5.66|5.66	4.69|4.69	0.59074|0.59074	.|.	0.360515|.	0.28052|.	N|.	0.016795|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.42245|0.42245	1.32|1.32	0.43025|0.43025	D|D	0.994581|0.994581	D;P|.	0.89917|.	1.0;0.953|.	P;B|.	0.59948|.	0.866;0.426|.	T|T	0.59726|0.59726	-0.7400|-0.7400	10|6	0.87932|0.87932	D|D	0|0	0.0173|0.0173	15.029|15.029	0.71691|0.71691	0.0:0.143:0.857:0.0|0.0:0.143:0.857:0.0	.|.	60;207|.	G3V3G9;P40855|.	.;PEX19_HUMAN|.	W|L	60;60;77;207;187;117;187|44	ENSP00000451989:R60W;ENSP00000451235:R60W|.	ENSP00000357051:R207W|ENSP00000435896:S158L	R|S	-|-	1|2	2|0	RP11-574F21.3;PEX19;DCAF8|PEX19	158516636|158516636	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.994000|0.994000	0.84299|0.84299	3.142000|3.142000	0.50601|0.50601	2.665000|2.665000	0.90641|0.90641	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.428	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	0	NM_002857		1:160250012
MCF2L	23263	broad.mit.edu	37	13	113656268	113656268	+	Intron	SNP	C	C	A	rs376750519	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:113656268C>A	ENST00000375608.3	+	3	227				MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000375597.4_Missense_Mutation_p.A15E|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.A15E|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000423482.2_Missense_Mutation_p.A15E			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GACCTCTGGGCGCTGTGGCTG	0.756																																						ENST00000423482.2		NA																	0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(43-45)gCg>gAg		MCF.2 cell line derived transforming sequence-like							8.0	11.0	10.0					13																	113656268		2144	4213	6357	SO:0001627	intron_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113656268C>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.170-12809C>A	13.37:g.113656268C>A		True	False		Somatic	0				MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.A15E|MCF2L_ENST00000375597.4_Missense_Mutation_p.A15E|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000535094.2_Intron	p.A15E	NM_024979.4	NP_079255.4	WXS	Illumina HiSeq	Phase_I	O15068	MCF2L_HUMAN			1	238	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	0					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.44C>A		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634039	0.00806	.	.	ENSG00000126217	ENST00000423482;ENST00000375597;ENST00000397024	T;T	0.34472	1.36;1.41	3.64	0.132	0.14762	.	.	.	.	.	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30149	-0.9988	9	0.02654	T	1	.	1.7401	0.02950	0.2206:0.4741:0.1739:0.1314	.	15;15	E9PDN8;O15068-4	.;.	E	15	ENSP00000405639:A15E;ENSP00000364747:A15E	ENSP00000364747:A15E	A	+	2	0	MCF2L	112704269	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.467000	0.06664	-0.090000	0.12462	-0.448000	0.05591	GCG		0.756	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	0			13:113656268
RIMS2	9699	broad.mit.edu	37	8	105026802	105026802	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105026802G>A	ENST00000436393.2	+	17	2754	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R912Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAAGGGGCCGACAGCTTCCA	0.443										HNSCC(12;0.0054)																												ENST00000507740.1		NA																	0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2734-2736)cGa>cAa		regulating synaptic membrane exocytosis 2							72.0	78.0	76.0					8																	105026802		1923	4110	6033	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026802G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2513G>A	8.37:g.105026802G>A	ENSP00000390665:p.Arg838Gln	False	False	HNSCC(12;0.0054)	Somatic	0				RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R838Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q	p.R912Q	NM_014677.4	NP_055492.3	WXS	Illumina HiSeq	Phase_I	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2971	+			1160			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2735G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.726423	0.89298	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.57273	0.41;2.37;2.07;1.98;0.65;1.18	5.63	5.63	0.86233	.	.	.	.	.	T	0.68155	0.2970	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.974;0.996;0.993;0.996	T	0.69258	-0.5192	9	0.72032	D	0.01	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	1160;838;937;912;1098	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	1098;1135;1098;1160;937;912;912;838	ENSP00000427018:R1098Q;ENSP00000384892:R1098Q;ENSP00000262231:R937Q;ENSP00000423559:R912Q;ENSP00000386228:R912Q;ENSP00000390665:R838Q	ENSP00000262231:R937Q	R	+	2	0	RIMS2	105095978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.175000	0.94831	2.652000	0.90054	0.591000	0.81541	CGA		0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	0	NM_001100117		8:105026802
TBC1D32	221322	broad.mit.edu	37	6	121544428	121544428	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:121544428G>T	ENST00000398212.2	-	21	2484	c.2435C>A	c.(2434-2436)cCt>cAt	p.P812H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	812					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TGTTTTATTAGGAAGATCTTG	0.318																																						ENST00000275159.6		NA																	0					NA						c.(2434-2436)cCt>cAt		TBC1 domain family, member 32							105.0	98.0	100.0					6																	121544428		1815	4079	5894	SO:0001583	missense	221322							g.chr6:121544428G>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2435C>A	6.37:g.121544428G>T	ENSP00000381270:p.Pro812His	False	False		Somatic	0				TBC1D32_ENST00000398212.2_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR	p.P812H			WXS	Illumina HiSeq	Phase_I					21	2434	-			NA					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2435C>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550957	0.65311	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.29397	1.57;1.57	5.64	4.78	0.61160	.	0.204155	0.51477	D	0.000082	T	0.43010	0.1228	M	0.71581	2.175	0.49798	D	0.999829	D;D	0.89917	0.997;1.0	P;D	0.74348	0.847;0.983	T	0.48364	-0.9042	10	0.72032	D	0.01	.	11.9792	0.53111	0.0818:0.0:0.9182:0.0	.	812;812	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	812	ENSP00000275159:P812H;ENSP00000381270:P812H	ENSP00000275159:P812H	P	-	2	0	C6orf170	121586127	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.087000	0.50167	1.526000	0.49068	0.655000	0.94253	CCT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	0	NM_152730		6:121544428
EVC	2121	broad.mit.edu	37	4	5798842	5798842	+	Silent	SNP	G	G	A	rs537471996	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:5798842G>A	ENST00000264956.6	+	14	2164	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	EVC_ENST00000382674.2_Silent_p.T660T|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	660					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCACCCTGACGCAGATGCGGC	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18527	0.0		0.0	False		,,,				2504	0.0					ENST00000382674.2		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1978-1980)acG>acA		Ellis van Creveld syndrome							42.0	41.0	42.0					4																	5798842		2202	4300	6502	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5798842G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1980G>A	4.37:g.5798842G>A		False	False		Somatic	0				EVC_ENST00000264956.6_Silent_p.T660T|EVC_ENST00000515113.1_3'UTR	p.T660T			WXS	Illumina HiSeq	Phase_I	P57679	EVC_HUMAN			14	2164	+		Myeloproliferative disorder(84;0.117)	660						Silent	SNP	ENST00000264956.6	37	c.1980G>A	CCDS3383.1																																																																																				0.672	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	0			4:5798842
PCDH7	5099	broad.mit.edu	37	4	30723222	30723222	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:30723222G>A	ENST00000361762.2	+	1	1186	c.178G>A	c.(178-180)Gga>Aga	p.G60R	PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATCGTGACCGGATCGGGTGA	0.677																																						ENST00000361762.2		NA																	0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(178-180)Gga>Aga		protocadherin 7							56.0	50.0	52.0					4																	30723222		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723222G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.178G>A	4.37:g.30723222G>A	ENSP00000355243:p.Gly60Arg	False	False		Somatic	0				PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	p.G60R	NM_002589.2	NP_002580.2	WXS	Illumina HiSeq	Phase_I	O60245	PCDH7_HUMAN			1	1186	+			60			Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.178G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021922	0.54576	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.26660	1.72;1.72	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.37758	0.1015	N	0.24115	0.695	0.42849	D	0.994078	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.68765	0.943;0.96;0.936	T	0.27123	-1.0083	9	0.51188	T	0.08	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	60;60;60	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	R	60	ENSP00000355243:G60R;ENSP00000441802:G60R	ENSP00000330302:G60R	G	+	1	0	PCDH7	30332320	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	9.650000	0.98490	2.364000	0.80123	0.305000	0.20034	GGA		0.677	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	0	NM_032457, NM_002589		4:30723222
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T	rs200405481		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458																																						ENST00000226284.5		NA																	1	Substitution - coding silent(1)	p.S165S(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(493-495)agC>agT		integrin-binding sialoprotein							137.0	127.0	131.0					4																	88732603		2203	4300	6503	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732603C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>T	4.37:g.88732603C>T		False	False		Somatic	0					p.S165S	NM_004967.3	NP_004958.2	WXS	Illumina HiSeq	Phase_I	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	562	+		Hepatocellular(203;0.114)	165			Asp/Glu-rich (acidic).			Silent	SNP	ENST00000226284.5	37	c.495C>T	CCDS3624.1																																																																																				0.458	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	0			4:88732603
FLYWCH1	84256	broad.mit.edu	37	16	2979735	2979735	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:2979735G>A	ENST00000253928.9	+	3	454	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	17						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						TGTGAAGGCCGGCCAGGAGCC	0.692																																						ENST00000399667.2		NA																	0				kidney(1)|lung(3)	4						c.(49-51)Ggc>Agc		FLYWCH-type zinc finger 1							37.0	44.0	41.0					16																	2979735		2198	4299	6497	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2979735G>A	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.49G>A	16.37:g.2979735G>A	ENSP00000253928:p.Gly17Ser	True	False		Somatic	0				FLYWCH1_ENST00000253928.9_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S	p.G17S			WXS	Illumina HiSeq	Phase_I	Q4VC44	FWCH1_HUMAN			3	412	+			17					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.49G>A		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329821	0.24167	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.01	2.04	0.26737	.	.	.	.	.	T	0.15609	0.0376	N	0.19112	0.55	0.24293	N	0.995159	B;P	0.39060	0.105;0.657	B;B	0.32677	0.018;0.15	T	0.10042	-1.0647	8	0.38643	T	0.18	.	6.03	0.19675	0.1435:0.0:0.8565:0.0	.	17;17	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	S	17	.	ENSP00000253928:G17S	G	+	1	0	FLYWCH1	2919736	0.537000	0.26386	0.679000	0.29978	0.109000	0.19521	0.577000	0.23758	0.844000	0.35094	0.456000	0.33151	GGC		0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	0	NM_032296		16:2979735
CIC	23152	broad.mit.edu	37	19	42799006	42799006	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42799006A>G	ENST00000575354.2	+	20	4530	c.4490A>G	c.(4489-4491)tAt>tGt	p.Y1497C	CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C|CIC_ENST00000572681.2_Missense_Mutation_p.Y2403C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGCCCGCTATGCAGACATC	0.587			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2		NA		Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7207-7209)tAt>tGt		capicua transcriptional repressor							65.0	67.0	66.0					19																	42799006		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799006A>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4490A>G	19.37:g.42799006A>G	ENSP00000458663:p.Tyr1497Cys	False	False		Somatic	0				CIC_ENST00000575354.2_Missense_Mutation_p.Y1497C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C	p.Y2403C			WXS	Illumina HiSeq	Phase_I	Q96RK0	CIC_HUMAN			21	7276	+		Prostate(69;0.00682)	1497					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7208A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155719	0.57259	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.42414	D	0.992613	D	0.69078	0.997	D	0.66847	0.947	T	0.58476	-0.7630	8	0.87932	D	0	-2.7629	9.5983	0.39587	0.8231:0.1768:0.0:0.0	.	1497	Q96RK0	CIC_HUMAN	C	1497	.	ENSP00000160740:Y1497C	Y	+	2	0	CIC	47490846	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	4.776000	0.62354	0.845000	0.35118	0.402000	0.26972	TAT		0.587	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0			19:42799006
TMEM255A	55026	broad.mit.edu	37	X	119394769	119394769	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:119394769G>C	ENST00000309720.5	-	10	1129	c.1006C>G	c.(1006-1008)Ccc>Gcc	p.P336A	TMEM255A_ENST00000440464.1_Missense_Mutation_p.P228A|TMEM255A_ENST00000371352.1_Missense_Mutation_p.P172A|TMEM255A_ENST00000371369.4_Missense_Mutation_p.P312A	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	336	Pro-rich.					integral component of membrane (GO:0016021)											GGATAGTAGGGTGGAGAGTAA	0.517																																						ENST00000371369.4		NA																	0					NA						c.(934-936)Ccc>Gcc		transmembrane protein 255A							130.0	107.0	115.0					X																	119394769		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119394769G>C	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.1006C>G	X.37:g.119394769G>C	ENSP00000310110:p.Pro336Ala	True	False		Somatic	0				TMEM255A_ENST00000440464.1_Missense_Mutation_p.P228A|TMEM255A_ENST00000371352.1_Missense_Mutation_p.P172A|TMEM255A_ENST00000309720.5_Missense_Mutation_p.P336A	p.P312A	NM_001104544.1	NP_001098014.1	WXS	Illumina HiSeq	Phase_I					9	1160	-			NA					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.934C>G	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904059	0.33628	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352;ENST00000440464	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	N	0.17312	0.475	0.40788	D	0.98323	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.994;0.996;0.996	T	0.51442	-0.8705	10	0.36615	T	0.2	-19.3739	17.6499	0.88161	0.0:0.0:1.0:0.0	.	228;312;336	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	A	336;312;172;228	ENSP00000310110:P336A;ENSP00000360420:P312A;ENSP00000360403:P172A;ENSP00000405781:P228A	ENSP00000310110:P336A	P	-	1	0	FAM70A	119278797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.370000	0.90120	2.471000	0.83476	0.600000	0.82982	CCC		0.517	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	0	NM_017938		X:119394769
INTS3	65123	broad.mit.edu	37	1	153723618	153723618	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:153723618C>T	ENST00000318967.2	+	7	1200	c.632C>T	c.(631-633)aCg>aTg	p.T211M	snoU13_ENST00000458994.1_RNA|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Missense_Mutation_p.T5M|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	212					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGTTTACACGTACCTCCGC	0.567																																						ENST00000456435.1		NA																	0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(13-15)aCg>aTg		integrator complex subunit 3							142.0	109.0	120.0					1																	153723618		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153723618C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.632C>T	1.37:g.153723618C>T	ENSP00000318641:p.Thr211Met	False	False		Somatic	0				INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.T211M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000476843.1_3'UTR	p.T5M			WXS	Illumina HiSeq	Phase_I	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1200	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		212					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.14C>T	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844025	0.91197	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.994	T	0.79783	-0.1658	9	0.87932	D	0	.	15.7443	0.77926	0.0:1.0:0.0:0.0	.	5;212;211	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	M	211;5;211;5	.	ENSP00000318641:T211M	T	+	2	0	INTS3	151990242	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.039000	0.76544	2.570000	0.86706	0.555000	0.69702	ACG		0.567	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	0	NM_023015		1:153723618
PLXNA2	5362	broad.mit.edu	37	1	208257827	208257827	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:208257827G>A	ENST00000367033.3	-	10	2953	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	732					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCGCTGGCCGGACTGCGGCT	0.592																																						ENST00000367033.3		NA																	0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2194-2196)tcC>tcT		plexin A2							79.0	82.0	81.0					1																	208257827		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208257827G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2196C>T	1.37:g.208257827G>A		False	False		Somatic	0					p.S732S	NM_025179.3	NP_079455.3	WXS	Illumina HiSeq	Phase_I	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	10	2953	-			732					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.2196C>T	CCDS31013.1																																																																																				0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	0	NM_025179		1:208257827
IGSF22	283284	broad.mit.edu	37	11	18736985	18736985	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:18736985C>G	ENST00000513874.1	-	11	1664	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	509										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTACCCTCCACAGTGACGATG	0.547																																						ENST00000513874.1		NA																	0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1525-1527)Gtg>Ctg		immunoglobulin superfamily, member 22							114.0	116.0	116.0					11																	18736985		2152	4249	6401	SO:0001583	missense	283284							g.chr11:18736985C>G	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1525G>C	11.37:g.18736985C>G	ENSP00000421191:p.Val509Leu	False	False		Somatic	0				RP11-1081L13.4_ENST00000527285.1_RNA	p.V509L	NM_173588.3	NP_775859	WXS	Illumina HiSeq	Phase_I	Q8N9C0	IGS22_HUMAN			11	1664	-			509					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1525G>C	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678902	0.03378	.	.	ENSG00000179057	ENST00000513874	T	0.13307	2.6	4.92	2.03	0.26663	.	0.203922	0.24126	N	0.041315	T	0.11110	0.0271	L	0.50333	1.59	0.19945	N	0.999945	B	0.34015	0.435	B	0.24974	0.057	T	0.14615	-1.0466	10	0.62326	D	0.03	.	8.4726	0.32995	0.0:0.7586:0.0:0.2414	.	509	D6RGV7	.	L	509	ENSP00000421191:V509L	ENSP00000322422:V509L	V	-	1	0	IGSF22	18693561	0.998000	0.40836	0.291000	0.24904	0.028000	0.11728	2.788000	0.47806	0.143000	0.18926	0.555000	0.69702	GTG		0.547	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	NM_173588		11:18736985
DHX35	60625	broad.mit.edu	37	20	37623503	37623503	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:37623503T>C	ENST00000252011.3	+	8	655	c.622T>C	c.(622-624)Tca>Cca	p.S208P	DHX35_ENST00000373325.2_Missense_Mutation_p.S208P|DHX35_ENST00000373323.4_Missense_Mutation_p.S177P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	208	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GATTGTAGCTTCAGCCACTCT	0.408																																						ENST00000252011.3		NA																	0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(622-624)Tca>Cca		DEAH (Asp-Glu-Ala-His) box polypeptide 35							159.0	147.0	151.0					20																	37623503		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37623503T>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.622T>C	20.37:g.37623503T>C	ENSP00000252011:p.Ser208Pro	False	False		Somatic	0				DHX35_ENST00000373323.4_Missense_Mutation_p.S177P|DHX35_ENST00000373325.2_Missense_Mutation_p.S208P	p.S208P	NM_021931.3	NP_068750.2	WXS	Illumina HiSeq	Phase_I	Q9H5Z1	DHX35_HUMAN			8	655	+		Myeloproliferative disorder(115;0.00878)	208			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.622T>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039783	0.93630	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.86	5.86	0.93980	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.72114	-0.4388	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	177;208	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	P	208;208;177;173	ENSP00000362422:S208P;ENSP00000252011:S208P;ENSP00000362420:S177P;ENSP00000414630:S173P	ENSP00000252011:S208P	S	+	1	0	DHX35	37056917	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.820000	0.86633	2.367000	0.80283	0.528000	0.53228	TCA		0.408	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	0	NM_021931		20:37623503
OR5K3	403277	broad.mit.edu	37	3	98109887	98109887	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:98109887A>G	ENST00000383695.1	+	1	378	c.378A>G	c.(376-378)atA>atG	p.I126M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGTGGCCATATGCAACCCAC	0.478																																						ENST00000383695.1		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(376-378)atA>atG		olfactory receptor, family 5, subfamily K, member 3							172.0	162.0	165.0					3																	98109887		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109887A>G		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.378A>G	3.37:g.98109887A>G	ENSP00000373194:p.Ile126Met	False	False		Somatic	0				RP11-325B23.2_ENST00000508616.1_lincRNA	p.I126M	NM_001005516.1	NP_001005516.1	WXS	Illumina HiSeq	Phase_I	A6NET4	OR5K3_HUMAN			1	378	+			126						Missense_Mutation	SNP	ENST00000383695.1	37	c.378A>G	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056919	0.55325	.	.	ENSG00000206536	ENST00000383695	T	0.59083	0.29	5.15	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	0.331813	0.21303	N	0.076767	T	0.80082	0.4558	H	0.98238	4.18	0.25262	N	0.98958	D	0.89917	1.0	D	0.97110	1.0	T	0.70894	-0.4748	10	0.87932	D	0	-61.4606	8.1546	0.31160	0.2367:0.5363:0.0:0.2271	.	126	A6NET4	OR5K3_HUMAN	M	126	ENSP00000373194:I126M	ENSP00000373194:I126M	I	+	3	3	OR5K3	99592577	0.004000	0.15560	0.808000	0.32385	0.947000	0.59692	-1.359000	0.02602	-0.708000	0.05015	0.491000	0.48974	ATA		0.478	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1	0			3:98109887
HIVEP1	3096	broad.mit.edu	37	6	12121002	12121002	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:12121002T>C	ENST00000379388.2	+	4	1306	c.974T>C	c.(973-975)gTt>gCt	p.V325A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	325					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAACAGGTTTATAATATA	0.423																																						ENST00000379388.2		NA																	0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(973-975)gTt>gCt		human immunodeficiency virus type I enhancer binding protein 1							112.0	105.0	107.0					6																	12121002		1937	4138	6075	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121002T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.974T>C	6.37:g.12121002T>C	ENSP00000368698:p.Val325Ala	True	False		Somatic	0					p.V325A	NM_002114.2	NP_002105.2	WXS	Illumina HiSeq	Phase_I	P15822	ZEP1_HUMAN			4	1306	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	325					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.974T>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762438	0.31228	.	.	ENSG00000095951	ENST00000379388	T	0.08370	3.1	5.69	5.69	0.88448	.	0.511841	0.14674	N	0.305158	T	0.03434	0.0099	L	0.31926	0.97	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.41893	-0.9483	9	.	.	.	-8.7034	15.942	0.79763	0.0:0.0:0.0:1.0	.	325	P15822	ZEP1_HUMAN	A	325	ENSP00000368698:V325A	.	V	+	2	0	HIVEP1	12228988	0.950000	0.32346	0.071000	0.20095	0.594000	0.36715	2.109000	0.41863	2.162000	0.67917	0.533000	0.62120	GTT		0.423	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	0	NM_002114		6:12121002
TMEM245	23731	broad.mit.edu	37	9	111812948	111812948	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:111812948T>C	ENST00000374586.3	-	13	1910	c.1879A>G	c.(1879-1881)Atg>Gtg	p.M627V		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	627						integral component of membrane (GO:0016021)											TTCCGGCTCATAACGATCCAC	0.463																																						ENST00000374586.3		NA																	0					NA						c.(1879-1881)Atg>Gtg		transmembrane protein 245							104.0	102.0	103.0					9																	111812948		2006	4178	6184	SO:0001583	missense	23731					integral to membrane		g.chr9:111812948T>C	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1879A>G	9.37:g.111812948T>C	ENSP00000363714:p.Met627Val	False	False		Somatic	0					p.M627V	NM_032012.3	NP_114401.2	WXS	Illumina HiSeq	Phase_I	Q9H330	CI005_HUMAN			13	1910	-			627					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1879A>G	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.89|12.89	2.072964|2.072964	0.36566|0.36566	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	T|.	0.39229|.	1.09|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30386|0.30386	0.0763|0.0763	N|N	0.01668|0.01668	-0.77|-0.77	0.51233|0.51233	D|D	0.999915|0.999915	D;D|.	0.59357|.	0.982;0.985|.	D;D|.	0.72338|.	0.961;0.977|.	T|T	0.36648|0.36648	-0.9739|-0.9739	10|5	0.10902|.	T|.	0.67|.	-33.0733|-33.0733	16.2141|16.2141	0.82191|0.82191	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	627;627|.	Q9H330-2;Q9H330|.	.;CI005_HUMAN|.	V|C	627|219	ENSP00000363714:M627V|.	ENSP00000223608:M627V|.	M|Y	-|-	1|2	0|0	C9orf5|C9orf5	110852769|110852769	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.888000|0.888000	0.51559|0.51559	6.262000|6.262000	0.72514|0.72514	2.224000|2.224000	0.72417|0.72417	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.463	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	0	NM_032012		9:111812948
CSMD2	114784	broad.mit.edu	37	1	34401481	34401481	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:34401481C>T	ENST00000373381.4	-	4	768	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	158	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTGTCACCGAGGTTGAAG	0.597																																						ENST00000373381.4		NA																	0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(592-594)Ggt>Agt		CUB and Sushi multiple domains 2							122.0	112.0	116.0					1																	34401481		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34401481C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.592G>A	1.37:g.34401481C>T	ENSP00000362479:p.Gly198Ser	False	False		Somatic	0					p.G198S	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina HiSeq	Phase_I	Q7Z408	CSMD2_HUMAN			4	768	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	158			Sushi 1.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337261	0.81911	.	.	ENSG00000121904	ENST00000373381	T	0.72394	-0.65	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.85579	0.5729	M	0.87971	2.92	0.80722	D	1	B;D	0.89917	0.241;1.0	B;D	0.65010	0.094;0.931	D	0.88169	0.2863	10	0.72032	D	0.01	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	158;198	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	198	ENSP00000362479:G198S	ENSP00000241312:G158S	G	-	1	0	CSMD2	34174068	1.000000	0.71417	0.575000	0.28536	0.940000	0.58332	7.733000	0.84916	2.439000	0.82584	0.563000	0.77884	GGT		0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_052896		1:34401481
CACNA1I	8911	broad.mit.edu	37	22	40015365	40015365	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40015365G>A	ENST00000402142.3	+	4	533	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CACNA1I_ENST00000336649.4_Missense_Mutation_p.R178H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	178					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGCCATCCGCACCGTGCGC	0.617																																						ENST00000336649.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(532-534)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						113.0	115.0	115.0					22																	40015365		2187	4282	6469	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40015365G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.533G>A	22.37:g.40015365G>A	ENSP00000385019:p.Arg178His	False	False		Somatic	0				CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H	p.R178H			WXS	Illumina HiSeq	Phase_I	Q9P0X4	CAC1I_HUMAN			6	533	+	Melanoma(58;0.0749)		178					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.533G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	-	22.5	4.298716	0.81025	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.98594	4.275	0.50313	D	0.99986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	D	0.97964	1.0339	10	0.59425	D	0.04	.	17.3138	0.87217	0.0:0.0:1.0:0.0	.	178;178;178;178	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	178	ENSP00000385019:R178H;ENSP00000384093:R178H;ENSP00000383887:R178H;ENSP00000385680:R178H;ENSP00000337829:R178H;ENSP00000383028:R178H	ENSP00000337829:R178H	R	+	2	0	CACNA1I	38345311	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	8.996000	0.93539	2.405000	0.81733	0.556000	0.70494	CGC		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	NM_001003406		22:40015365
OLFML2B	25903	broad.mit.edu	37	1	161953822	161953822	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:161953822G>A	ENST00000294794.3	-	8	2319	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	OLFML2B_ENST00000367940.2_Silent_p.I633I|OLFML2B_ENST00000367938.1_Silent_p.I115I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	632	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGCCGGGTAGATGAGCCATA	0.617																																						ENST00000294794.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)atC>atT		olfactomedin-like 2B							71.0	62.0	65.0					1																	161953822		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161953822G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1896C>T	1.37:g.161953822G>A		False	False		Somatic	0				OLFML2B_ENST00000367940.2_Silent_p.I633I|OLFML2B_ENST00000367938.1_Silent_p.I115I	p.I632I	NM_015441.1	NP_056256.1	WXS	Illumina HiSeq	Phase_I	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2319	-	all_hematologic(112;0.156)		632			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1896C>T	CCDS1236.1																																																																																				0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	0	NM_015441		1:161953822
SUMO3	6612	broad.mit.edu	37	21	46229016	46229016	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46229016C>T	ENST00000397898.3	-	3	250	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SUMO3_ENST00000332859.6_Silent_p.Q56Q|SUMO3_ENST00000411651.2_Silent_p.Q94Q|SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000479153.1_5'UTR					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGAATCTGATCTGCCTCATTG	0.532																																						ENST00000332859.6		NA																	0				prostate(1)	1						c.(166-168)caG>caA		small ubiquitin-like modifier 3							135.0	102.0	114.0					21																	46229016		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46229016C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.168G>A	21.37:g.46229016C>T		True	False		Somatic	0				SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000397898.3_Silent_p.Q56Q|SUMO3_ENST00000411651.2_Silent_p.Q94Q	p.Q56Q	NM_006936.2	NP_008867.2	WXS	Illumina HiSeq	Phase_I	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	3	328	-			56			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.168G>A																																																																																					0.532	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1	0			21:46229016
RGAG1	57529	broad.mit.edu	37	X	109695238	109695238	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512																																						ENST00000465301.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1393-1395)Gca>Aca		retrotransposon gag domain containing 1							151.0	131.0	138.0					X																	109695238		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695238G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1393G>A	X.37:g.109695238G>A	ENSP00000419786:p.Ala465Thr	False	False		Somatic	0				RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	p.A465T	NM_020769.2	NP_065820.1	WXS	Illumina HiSeq	Phase_I	Q8NET4	RGAG1_HUMAN			3	1639	+			465					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1393G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136859	0.01742	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.32515	1.45;1.45	3.97	-4.1	0.03940	.	0.573732	0.13288	N	0.399198	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32587	-0.9901	9	.	.	.	-4.4633	3.6067	0.08045	0.2422:0.0:0.3007:0.4571	.	465	Q8NET4	RGAG1_HUMAN	T	465	ENSP00000419786:A465T;ENSP00000441452:A465T	.	A	+	1	0	RGAG1	109581894	0.810000	0.29049	0.009000	0.14445	0.055000	0.15305	0.501000	0.22578	-0.859000	0.04105	-1.087000	0.02190	GCA		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	0	NM_020769		X:109695238
GPD2	2820	broad.mit.edu	37	2	157435503	157435503	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:157435503G>T	ENST00000310454.6	+	14	2242	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	624	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACTGCCTTCAGACATTGACAG	0.333																																						ENST00000310454.6		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(1870-1872)Gac>Tac		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							117.0	119.0	118.0					2																	157435503		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157435503G>T		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1870G>T	2.37:g.157435503G>T	ENSP00000308610:p.Asp624Tyr	False	False		Somatic	0				GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y	p.D624Y	NM_001083112.2	NP_001076581.2	WXS	Illumina HiSeq	Phase_I	P43304	GPDM_HUMAN			14	2242	+			624			EF-hand 1.		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1870G>T	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669779	0.88348	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.79	5.79	0.91817	EF-hand-like domain (1);	0.042575	0.85682	D	0.000000	T	0.70876	0.3274	M	0.68593	2.085	0.80722	D	1	P	0.40398	0.716	P	0.45946	0.498	T	0.73212	-0.4054	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	624	P43304	GPDM_HUMAN	Y	624;397;624;624	ENSP00000308610:D624Y;ENSP00000386484:D397Y;ENSP00000409708:D624Y;ENSP00000386425:D624Y	ENSP00000308610:D624Y	D	+	1	0	GPD2	157143749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.845000	0.99498	2.732000	0.93576	0.585000	0.79938	GAC		0.333	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3	0			2:157435503
COMMD5	28991	broad.mit.edu	37	8	146076505	146076505	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:146076505G>A	ENST00000305103.3	-	2	471	c.219C>T	c.(217-219)gtC>gtT	p.V73V	COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000450361.2_Silent_p.V73V|AF235103.1_ENST00000578937.1_RNA	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	73						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGTTGGCGCTGACCCCAAGAC	0.647																																						ENST00000450361.2		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11						c.(217-219)gtC>gtT		COMM domain containing 5							24.0	22.0	23.0					8																	146076505		2202	4298	6500	SO:0001819	synonymous_variant	28991					nucleus	protein binding	g.chr8:146076505G>A	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.219C>T	8.37:g.146076505G>A		False	False		Somatic	0				COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000305103.3_Silent_p.V73V	p.V73V	NM_001081003.1	NP_001074472.1	WXS	Illumina HiSeq	Phase_I	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		2	640	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		73					D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	ENST00000305103.3	37	c.219C>T	CCDS6436.1																																																																																				0.647	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	0	NM_014066		8:146076505
LRRC40	55631	broad.mit.edu	37	1	70641617	70641617	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:70641617G>C	ENST00000370952.3	-	7	932	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	285						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AGATGTTTAAGATGTTCTGCC	0.348																																						ENST00000370952.3		NA																	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(853-855)Ctt>Gtt		leucine rich repeat containing 40							119.0	116.0	117.0					1																	70641617		2203	4300	6503	SO:0001583	missense	55631							g.chr1:70641617G>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.853C>G	1.37:g.70641617G>C	ENSP00000359990:p.Leu285Val	False	False		Somatic	0					p.L285V	NM_017768.4	NP_060238.3	WXS	Illumina HiSeq	Phase_I	Q9H9A6	LRC40_HUMAN			7	932	-			285					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.853C>G	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350555	0.61183	.	.	ENSG00000066557	ENST00000370952	T	0.61510	0.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55481	1.735	0.53688	D	0.999978	D	0.67145	0.996	D	0.65573	0.936	T	0.56056	-0.8042	10	0.22706	T	0.39	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	285	Q9H9A6	LRC40_HUMAN	V	285	ENSP00000359990:L285V	ENSP00000359990:L285V	L	-	1	0	LRRC40	70414205	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.021000	0.70832	2.567000	0.86603	0.585000	0.79938	CTT		0.348	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	0	NM_017768		1:70641617
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	rs201979395		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622																																						ENST00000545145.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1906-1908)cGc>cAc		RNA binding motif protein 19		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47.0	53.0	51.0		1907,1907,1907	2.4	1.0	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377796C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	12.37:g.114377796C>T	ENSP00000442053:p.Arg636His	True	False		Somatic	0				RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	p.R636H	NM_001146699.1	NP_001140171.1	WXS	Illumina HiSeq	Phase_I	Q9Y4C8	RBM19_HUMAN			15	1985	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		636			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1907G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	0	NM_016196		12:114377796
KLHL3	26249	broad.mit.edu	37	5	136997650	136997650	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:136997650A>G	ENST00000309755.4	-	7	1150	c.707T>C	c.(706-708)aTg>aCg	p.M236T	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000508657.1_Missense_Mutation_p.M204T	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	236	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GACATGTTCCATCAGCTTTGC	0.443																																						ENST00000508657.1		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(610-612)aTg>aCg		kelch-like family member 3							165.0	138.0	147.0					5																	136997650		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136997650A>G	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.707T>C	5.37:g.136997650A>G	ENSP00000312397:p.Met236Thr	False	False		Somatic	0				KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000309755.4_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR	p.M204T	NM_001257194.1	NP_001244123.1	WXS	Illumina HiSeq	Phase_I	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	7	1325	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	236					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.611T>C	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343183	0.82022	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.90650	3.135	0.80722	D	1	P;D;P;D;D	0.67145	0.858;0.996;0.848;0.996;0.976	B;D;P;D;D	0.68621	0.412;0.944;0.511;0.959;0.932	D	0.87765	0.2601	10	0.87932	D	0	.	15.1492	0.72684	1.0:0.0:0.0:0.0	.	5;196;204;236;236	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77;Q8N4I8	.;.;.;KLHL3_HUMAN;.	T	154;204;236;116;196;236	ENSP00000424828:M154T;ENSP00000422099:M204T;ENSP00000312397:M236T;ENSP00000440319:M116T;ENSP00000426173:M196T;ENSP00000378395:M236T	ENSP00000312397:M236T	M	-	2	0	KLHL3	137025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.036000	0.93758	2.234000	0.73211	0.533000	0.62120	ATG		0.443	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2	0			5:136997650
COL5A3	50509	broad.mit.edu	37	19	10071228	10071228	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:10071228C>T	ENST00000264828.3	-	67	5182	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1699	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGTCCTTTCCGGAGCTGTC	0.587																																						ENST00000264828.3		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(5095-5097)cgG>cgA		collagen, type V, alpha 3							93.0	101.0	98.0					19																	10071228		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071228C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5097G>A	19.37:g.10071228C>T		True	False		Somatic	0					p.R1699R	NM_015719.3	NP_056534.2	WXS	Illumina HiSeq	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		67	5182	-			1699			Fibrillar collagen NC1.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.5097G>A	CCDS12222.1																																																																																				0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	0	NM_015719		19:10071228
SLC12A9	56996	broad.mit.edu	37	7	100460407	100460407	+	Missense_Mutation	SNP	G	G	A	rs368545922		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100460407G>A	ENST00000354161.3	+	13	1941	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	606					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCACCCTCCGTGCGCCAGGG	0.637																																						ENST00000354161.3		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1816-1818)Gtg>Atg		solute carrier family 12, member 9							130.0	107.0	115.0					7																	100460407		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100460407G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1816G>A	7.37:g.100460407G>A	ENSP00000275730:p.Val606Met	False	False		Somatic	0				SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M	p.V606M	NM_020246.3	NP_064631.2	WXS	Illumina HiSeq	Phase_I	Q9BXP2	S12A9_HUMAN			13	1941	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		606					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1816G>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787707	0.90367	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.93953	-2.61;-2.61;-2.24;-2.24;-3.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.968	D	0.96645	0.9477	10	0.66056	D	0.02	.	16.1082	0.81241	0.0:0.0:1.0:0.0	.	517;606	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	M	606;606;517;517;606;232	ENSP00000443702:V606M;ENSP00000408301:V606M;ENSP00000275729:V517M;ENSP00000413796:V517M;ENSP00000275730:V606M	ENSP00000275729:V517M	V	+	1	0	SLC12A9	100298343	1.000000	0.71417	0.950000	0.38849	0.891000	0.51852	7.581000	0.82535	2.404000	0.81709	0.491000	0.48974	GTG		0.637	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	0	NM_020246		7:100460407
KRTAP9-3	83900	broad.mit.edu	37	17	39389179	39389179	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567																																						ENST00000411528.2		NA																	0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(424-426)acC>acA		keratin associated protein 9-3							132.0	164.0	153.0					17																	39389179		2105	4300	6405	SO:0001819	synonymous_variant	83900					keratin filament	protein binding	g.chr17:39389179C>A	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.426C>A	17.37:g.39389179C>A		False	False		Somatic	0					p.T142T	NM_031962.2	NP_114168.1	WXS	Illumina HiSeq	Phase_I	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	465	+		Breast(137;0.000496)	142			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Silent	SNP	ENST00000411528.2	37	c.426C>A	CCDS11385.1																																																																																				0.567	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1	0			17:39389179
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8.0	10.0	9.0					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro	True	False		Somatic	0				PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	WXS	Illumina HiSeq	Phase_I	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	0	NM_138499		10:134218293
FBXL20	84961	broad.mit.edu	37	17	37420484	37420484	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:37420484G>A	ENST00000264658.6	-	14	1407	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W|FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W|FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	383					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.R383W(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGTTCTATCCGCTCAAGGCTA	0.512																																						ENST00000264658.6		NA																	1	Substitution - Missense(1)	p.R383W(1)	large_intestine(1)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1147-1149)Cgg>Tgg		F-box and leucine-rich repeat protein 20							155.0	136.0	142.0					17																	37420484		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37420484G>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1147C>T	17.37:g.37420484G>A	ENSP00000264658:p.Arg383Trp	False	False		Somatic	0				FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W|FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W|FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W	p.R383W	NM_032875.2	NP_116264.2	WXS	Illumina HiSeq	Phase_I	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		14	1407	-			383					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.1147C>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856694	0.71834	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.12361	2.69;2.69	5.9	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.34800	-0.9814	10	0.72032	D	0.01	.	9.363	0.38208	0.0748:0.0:0.4229:0.5023	.	351;383	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	W	383;351	ENSP00000264658:R383W;ENSP00000377832:R351W	ENSP00000264658:R383W	R	-	1	2	FBXL20	34674010	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	3.486000	0.53215	0.362000	0.24319	-0.251000	0.11542	CGG		0.512	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	0	NM_032875		17:37420484
ATP2B3	492	broad.mit.edu	37	X	152806983	152806983	+	Silent	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:152806983G>T	ENST00000349466.2	+	3	701	c.375G>T	c.(373-375)tcG>tcT	p.S125S	ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000370186.1_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	125					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCCTCTCGTTCTATGCGC	0.622																																						ENST00000370186.1		NA																	0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(373-375)tcG>tcT		ATPase, Ca++ transporting, plasma membrane 3							97.0	82.0	87.0					X																	152806983		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152806983G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.375G>T	X.37:g.152806983G>T		False	False		Somatic	0				ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000349466.2_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S	p.S125S			WXS	Illumina HiSeq	Phase_I	Q16720	AT2B3_HUMAN			3	701	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		125					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.375G>T	CCDS35440.1																																																																																				0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	0	NM_021949		X:152806983
ACAD9	28976	broad.mit.edu	37	3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632																																						ENST00000308982.7		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1240-1242)cGc>cAc		acyl-CoA dehydrogenase family, member 9							121.0	111.0	115.0					3																	128625055		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128625055G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1241G>A	3.37:g.128625055G>A	ENSP00000312618:p.Arg414His	False	False		Somatic	0				ACAD9_ENST00000511526.1_3'UTR	p.R414H	NM_014049.4	NP_054768.2	WXS	Illumina HiSeq	Phase_I	Q9H845	ACAD9_HUMAN			12	1322	+			414					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1241G>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491866	0.84962	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.97378	-4.36	5.66	4.77	0.60923	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99494	1.0951	10	0.87932	D	0	.	14.2991	0.66334	0.0:0.1497:0.8503:0.0	.	291;414	Q9H9W4;Q9H845	.;ACAD9_HUMAN	H	414;281	ENSP00000312618:R414H	ENSP00000312618:R414H	R	+	2	0	ACAD9	130107745	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.033000	0.93741	1.354000	0.45846	0.655000	0.94253	CGC		0.632	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	0	NM_014049		3:128625055
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1		NA																	7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	False	False		Somatic	0				KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	WXS	Illumina HiSeq	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	0	NM_152903		13:41705440
RP1L1	94137	broad.mit.edu	37	8	10470231	10470231	+	Silent	SNP	G	G	A	rs201173500		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:10470231G>A	ENST00000382483.3	-	4	1600	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	459					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGGGAGGCCGGTGCTGGAGG	0.726																																						ENST00000382483.3		NA																	0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1375-1377)acC>acT		retinitis pigmentosa 1-like 1							27.0	34.0	32.0					8																	10470231		2000	4150	6150	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470231G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1377C>T	8.37:g.10470231G>A		False	False		Somatic	0					p.T459T	NM_178857.5	NP_849188.4	WXS	Illumina HiSeq	Phase_I	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1600	-			459					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.1377C>T	CCDS43708.1																																																																																				0.726	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	0			8:10470231
B3GALT2	8707	broad.mit.edu	37	1	193149903	193149903	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:193149903T>C	ENST00000367434.4	-	2	1545	c.790A>G	c.(790-792)Aat>Gat	p.N264D	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	264					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AGTAACTTATTGATTAAATAT	0.388																																						ENST00000367434.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(790-792)Aat>Gat		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							106.0	101.0	103.0					1																	193149903		2203	4299	6502	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193149903T>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.790A>G	1.37:g.193149903T>C	ENSP00000356404:p.Asn264Asp	False	False		Somatic	0				CDC73_ENST00000367435.3_Intron	p.N264D	NM_003783.3	NP_003774.1	WXS	Illumina HiSeq	Phase_I	O43825	B3GT2_HUMAN			2	1545	-			264					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.790A>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985401	0.35036	.	.	ENSG00000162630	ENST00000367434	T	0.42513	0.97	5.42	4.5	0.54988	.	0.104621	0.64402	D	0.000003	T	0.24470	0.0593	N	0.04297	-0.235	0.25600	N	0.98661	B	0.14012	0.009	B	0.24848	0.056	T	0.13953	-1.0490	10	0.24483	T	0.36	.	15.5666	0.76298	0.0:0.0:0.8593:0.1407	.	264	O43825	B3GT2_HUMAN	D	264	ENSP00000356404:N264D	ENSP00000356404:N264D	N	-	1	0	B3GALT2	191416526	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.987000	0.49378	1.266000	0.44231	-0.173000	0.13275	AAT		0.388	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	0	NM_003783		1:193149903
ELMO1	9844	broad.mit.edu	37	7	36917614	36917614	+	Splice_Site	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCTACTTACGTTTGTCCTG	0.488																																						ENST00000310758.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.e19+1		engulfment and cell motility 1							99.0	80.0	87.0					7																	36917614		2203	4300	6503	SO:0001630	splice_region_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36917614C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1822+1G>A	7.37:g.36917614C>T		False	False		Somatic	0				ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site		NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	WXS	Illumina HiSeq	Phase_I	Q92556	ELMO1_HUMAN			19	2470	-			NA					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Splice_Site	SNP	ENST00000310758.4	37		CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112821	0.94339	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELMO1	36884139	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.399000	0.79935	2.756000	0.94617	0.655000	0.94253	.		0.488	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	0	NM_130442	Intron	7:36917614
RAB25	57111	broad.mit.edu	37	1	156038083	156038083	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:156038083G>A	ENST00000361084.5	+	3	503	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	88					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCAGTGGGGGCCCTCCTGGT	0.557																																						ENST00000361084.5		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(262-264)Gcc>Acc		RAB25, member RAS oncogene family							109.0	106.0	107.0					1																	156038083		2113	4264	6377	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038083G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.262G>A	1.37:g.156038083G>A	ENSP00000354376:p.Ala88Thr	True	False		Somatic	0				RAB25_ENST00000487325.1_3'UTR	p.A88T	NM_020387.2	NP_065120.2	WXS	Illumina HiSeq	Phase_I	P57735	RAB25_HUMAN			3	503	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		88					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.262G>A	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595812	0.96602	.	.	ENSG00000132698	ENST00000361084	T	0.81163	-1.46	5.19	5.19	0.71726	Small GTP-binding protein domain (1);	0.106823	0.64402	D	0.000006	D	0.92851	0.7726	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94704	0.7886	10	0.87932	D	0	.	17.4443	0.87574	0.0:0.0:1.0:0.0	.	88	P57735	RAB25_HUMAN	T	88	ENSP00000354376:A88T	ENSP00000354376:A88T	A	+	1	0	RAB25	154304707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.520000	0.98027	2.686000	0.91538	0.655000	0.94253	GCC		0.557	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1	0			1:156038083
WSCD1	23302	broad.mit.edu	37	17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	rs148296936	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTCTCCGCCGAACACAGTTC	0.672																																						ENST00000574946.1		NA																	0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(40-42)cGa>cAa		WSC domain containing 1			GLN/ARG	0,4246		0,0,2123	41.0	40.0	40.0		41	4.8	1.0	17	dbSNP_134	40	2,8236		0,2,4117	yes	missense	WSCD1	NM_015253.1	43	0,2,6240	AA,AG,GG		0.0243,0.0,0.016	probably-damaging	14/576	5984019	2,12482	2123	4119	6242	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5984019G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.41G>A	17.37:g.5984019G>A	ENSP00000460825:p.Arg14Gln	False	False		Somatic	0				WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q	p.R14Q			WXS	Illumina HiSeq	Phase_I	Q658N2	WSCD1_HUMAN			2	431	+			14					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.41G>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	g	31	5.082163	0.94050	0.0	2.43E-4	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000008	D	0.89550	0.6747	L	0.47190	1.495	0.36291	D	0.856398	D	0.89917	1.0	D	0.76575	0.988	D	0.92691	0.6166	10	0.87932	D	0	-12.0492	15.3569	0.74434	0.0:0.0:1.0:0.0	.	14	Q658N2	WSCD1_HUMAN	Q	14	ENSP00000323087:R14Q;ENSP00000446032:R14Q	ENSP00000323087:R14Q	R	+	2	0	WSCD1	5924743	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	6.190000	0.72057	2.203000	0.70933	0.552000	0.68991	CGA		0.672	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	0	NM_015253		17:5984019
GJC3	349149	broad.mit.edu	37	7	99521174	99521174	+	Missense_Mutation	SNP	A	A	T	rs377442638		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:99521174A>T	ENST00000312891.2	-	2	833	c.834T>A	c.(832-834)gaT>gaA	p.D278E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	278					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					caactcaggcatctctgggtc	0.388																																						ENST00000312891.2		NA																	0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(832-834)gaT>gaA		gap junction protein, gamma 3, 30.2kDa							121.0	112.0	115.0					7																	99521174		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99521174A>T	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.834T>A	7.37:g.99521174A>T	ENSP00000325775:p.Asp278Glu	False	False		Somatic	0					p.D278E	NM_181538.2	NP_853516.1	WXS	Illumina HiSeq	Phase_I	Q8NFK1	CXG3_HUMAN			2	833	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		278					A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.834T>A	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409331	0.42715	.	.	ENSG00000176402	ENST00000312891	D	0.97850	-4.57	0.235	-0.47	0.12131	.	.	.	.	.	D	0.91928	0.7444	N	0.08118	0	0.19575	N	0.999967	P	0.38711	0.643	B	0.43360	0.417	D	0.87092	0.2173	8	0.21540	T	0.41	.	.	.	.	.	278	Q8NFK1	CXG3_HUMAN	E	278	ENSP00000325775:D278E	ENSP00000325775:D278E	D	-	3	2	GJC3	99359110	0.157000	0.22836	0.581000	0.28614	0.590000	0.36582	-0.593000	0.05740	-0.738000	0.04817	-0.736000	0.03550	GAT		0.388	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	0	NM_181538		7:99521174
TRIM42	287015	broad.mit.edu	37	3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	213						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R213H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCACGGGCGTCTCACCAAG	0.612																																						ENST00000286349.3		NA																	1	Substitution - Missense(1)	p.R213H(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(637-639)cGt>cAt		tripartite motif containing 42							74.0	73.0	73.0					3																	140401600		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401600G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.638G>A	3.37:g.140401600G>A	ENSP00000286349:p.Arg213His	False	False		Somatic	0					p.R213H	NM_152616.4	NP_689829.3	WXS	Illumina HiSeq	Phase_I	Q8IWZ5	TRI42_HUMAN			2	829	+			213					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.638G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215216	0.79352	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.117429	0.35349	N	0.003274	T	0.46347	0.1388	L	0.52905	1.665	0.30123	N	0.805474	D	0.71674	0.998	P	0.54140	0.743	T	0.45366	-0.9266	10	0.35671	T	0.21	-16.8257	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	213	Q8IWZ5	TRI42_HUMAN	H	213	ENSP00000286349:R213H	ENSP00000286349:R213H	R	+	2	0	TRIM42	141884290	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.158000	0.42329	2.435000	0.82474	0.561000	0.74099	CGT		0.612	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	NM_152616		3:140401600
FBXO3	26273	broad.mit.edu	37	11	33763529	33763529	+	Silent	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763529T>C	ENST00000265651.3	-	11	1359	c.1341A>G	c.(1339-1341)gaA>gaG	p.E447E	FBXO3_ENST00000531080.1_Silent_p.E134E|FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Silent_p.E334E	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCATCATCTTCATCTGATT	0.478																																						ENST00000526785.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1000-1002)gaA>gaG		F-box protein 3							211.0	161.0	177.0					11																	33763529		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763529T>C	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1341A>G	11.37:g.33763529T>C		True	False		Somatic	0				FBXO3_ENST00000265651.3_Silent_p.E447E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_Silent_p.E134E|FBXO3_ENST00000532057.1_Silent_p.E134E	p.E334E			WXS	Illumina HiSeq	Phase_I	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4753	-		Lung NSC(402;0.0804)	447			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.1002A>G	CCDS7887.1																																																																																				0.478	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	0	NM_012175		11:33763529
DSG4	147409	broad.mit.edu	37	18	28991322	28991322	+	Missense_Mutation	SNP	G	G	A	rs145949758		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:28991322G>A	ENST00000308128.4	+	15	2401	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A775T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	756					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ctcaggggccgcaAGGAAGAG	0.617																																						ENST00000359747.4		NA																	0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2323-2325)Gca>Aca		desmoglein 4							54.0	52.0	53.0					18																	28991322		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991322G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2266G>A	18.37:g.28991322G>A	ENSP00000311859:p.Ala756Thr	False	False		Somatic	0				DSG4_ENST00000308128.4_Missense_Mutation_p.A756T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.A775T	NM_001134453.1	NP_001127925.1	WXS	Illumina HiSeq	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2352	+			756					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2323G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	4.141	0.024420	0.08054	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.87	-11.7	0.00046	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.09640	-1.0665	9	0.17369	T	0.5	.	0.3831	0.00398	0.351:0.2389:0.1437:0.2663	.	775;756	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	756;775	ENSP00000311859:A756T;ENSP00000352785:A775T	ENSP00000311859:A756T	A	+	1	0	DSG4	27245320	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.460000	0.06720	-2.897000	0.00313	-0.905000	0.02835	GCA		0.617	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	0	NM_177986		18:28991322
XYLT2	64132	broad.mit.edu	37	17	48431870	48431870	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48431870G>A	ENST00000017003.2	+	3	779	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	244					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCACGGCCGCGCCATCCGCCA	0.612																																						ENST00000017003.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(730-732)Gcc>Acc		xylosyltransferase II							44.0	43.0	44.0					17																	48431870		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431870G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.730G>A	17.37:g.48431870G>A	ENSP00000017003:p.Ala244Thr	False	False		Somatic	0				XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	p.A244T	NM_022167.2	NP_071450.2	WXS	Illumina HiSeq	Phase_I	Q9H1B5	XYLT2_HUMAN			3	779	+	Breast(11;7.18e-19)		244					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.730G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813933	0.90790	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11169	2.8;2.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.31081	-0.9956	10	0.54805	T	0.06	-17.8105	17.6496	0.88159	0.0:0.0:1.0:0.0	.	244	Q9H1B5	XYLT2_HUMAN	T	244	ENSP00000017003:A244T;ENSP00000426501:A244T	ENSP00000017003:A244T	A	+	1	0	XYLT2	45786869	1.000000	0.71417	0.919000	0.36401	0.568000	0.35870	9.411000	0.97342	2.403000	0.81681	0.313000	0.20887	GCC		0.612	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	0	NM_022167		17:48431870
BRWD3	254065	broad.mit.edu	37	X	79932804	79932804	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:79932804G>A	ENST00000373275.4	-	41	4929	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1571					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTTCTCTTGATTCCTGTCC	0.368																																						ENST00000373275.4		NA																	0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4711-4713)atC>atT		bromodomain and WD repeat domain containing 3							44.0	41.0	42.0					X																	79932804		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79932804G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4713C>T	X.37:g.79932804G>A		False	False		Somatic	0				BRWD3_ENST00000473691.1_5'UTR	p.I1571I	NM_153252.4	NP_694984	WXS	Illumina HiSeq	Phase_I	Q6RI45	BRWD3_HUMAN			41	4929	-			1571					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.4713C>T	CCDS14447.1																																																																																				0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	NM_153252		X:79932804
SNRPA	6626	broad.mit.edu	37	19	41268935	41268935	+	Missense_Mutation	SNP	C	C	T	rs374666711		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:41268935C>T	ENST00000243563.3	+	4	1106	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	186	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGGGCCATGCCCCCGCAGCA	0.612																																						ENST00000243563.3		NA																	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(556-558)Ccc>Tcc		small nuclear ribonucleoprotein polypeptide A		C	SER/PRO	0,4406		0,0,2203	25.0	27.0	27.0		556	4.4	1.0	19		27	1,8599		0,1,4299	no	missense	SNRPA	NM_004596.4	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	186/283	41268935	1,13005	2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41268935C>T	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.556C>T	19.37:g.41268935C>T	ENSP00000243563:p.Pro186Ser	True	False		Somatic	0					p.P186S	NM_004596.4	NP_004587.1	WXS	Illumina HiSeq	Phase_I	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1106	+			186			Pro-rich.			Missense_Mutation	SNP	ENST00000243563.3	37	c.556C>T	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661899	0.67700	0.0	1.16E-4	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.27557	1.66	5.42	4.39	0.52855	.	0.000000	0.64402	D	0.000014	T	0.45637	0.1352	L	0.60455	1.87	0.40094	D	0.976284	D	0.57571	0.98	P	0.59424	0.857	T	0.39231	-0.9624	10	0.37606	T	0.19	-16.183	12.9433	0.58359	0.0:0.9199:0.0:0.0801	.	186	P09012	SNRPA_HUMAN	S	186;107	ENSP00000243563:P186S	ENSP00000243563:P186S	P	+	1	0	SNRPA	45960775	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.516000	0.53436	1.284000	0.44531	0.655000	0.94253	CCC		0.612	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	0	NM_004596		19:41268935
PLA2G4A	5321	broad.mit.edu	37	1	186916023	186916023	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186916023C>A	ENST00000367466.3	+	12	1346	c.1194C>A	c.(1192-1194)tcC>tcA	p.S398S	PLA2G4A_ENST00000442353.2_Silent_p.S338S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	398	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGCCTTTTCCATATTGTTCA	0.358																																						ENST00000367466.3		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1192-1194)tcC>tcA		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						151.0	148.0	149.0					1																	186916023		2203	4300	6503	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186916023C>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1194C>A	1.37:g.186916023C>A		False	False		Somatic	0				PLA2G4A_ENST00000442353.2_Silent_p.S338S	p.S398S	NM_024420.2	NP_077734	WXS	Illumina HiSeq	Phase_I	P47712	PA24A_HUMAN			12	1346	+			398			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1194C>A	CCDS1372.1																																																																																				0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	0	NM_024420		1:186916023
BTN3A1	11119	broad.mit.edu	37	6	26413540	26413540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:26413540G>A	ENST00000289361.6	+	10	1530	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCGGCTGTGAGAGCTTCAT	0.512																																						ENST00000289361.6		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1162-1164)Gag>Aag		butyrophilin, subfamily 3, member A1							141.0	149.0	146.0					6																	26413540		2203	4300	6503	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26413540G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1162G>A	6.37:g.26413540G>A	ENSP00000289361:p.Glu388Lys	False	False		Somatic	0				BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	p.E388K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	WXS	Illumina HiSeq	Phase_I	O00481	BT3A1_HUMAN			10	1530	+			388			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1162G>A	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010049	0.35415	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15017	2.46;2.46	2.96	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	N	0.25992	0.78	0.19300	N	0.999971	B;B	0.18461	0.028;0.028	B;B	0.17722	0.019;0.012	T	0.42949	-0.9421	9	0.44086	T	0.13	.	6.0568	0.19816	0.3689:0.0:0.6311:0.0	.	336;388	E9PGB4;O00481	.;BT3A1_HUMAN	K	388;336	ENSP00000289361:E388K;ENSP00000406667:E336K	ENSP00000289361:E388K	E	+	1	0	BTN3A1	26521519	0.131000	0.22433	0.000000	0.03702	0.003000	0.03518	0.910000	0.28571	0.080000	0.16959	0.609000	0.83330	GAG		0.512	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3	0			6:26413540
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	rs543351323	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463													G|||	5	0.000998403	0.0	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0051					ENST00000343457.3		NA																	0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2455-2457)cCg>cTg		leucine rich repeat containing 66							65.0	67.0	66.0					4																	52860732		1885	4114	5999	SO:0001583	missense	339977					integral to membrane		g.chr4:52860732G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2456C>T	4.37:g.52860732G>A	ENSP00000341944:p.Pro819Leu	True	False		Somatic	0					p.P819L	NM_001024611.1	NP_001019782.1	WXS	Illumina HiSeq	Phase_I	Q68CR7	LRC66_HUMAN			4	2462	-			819						Missense_Mutation	SNP	ENST00000343457.3	37	c.2456C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	LRRC66	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG		0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	0	NM_001024611		4:52860732
KCNQ3	3786	broad.mit.edu	37	8	133153411	133153411	+	Missense_Mutation	SNP	C	C	T	rs141821338		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133153411C>T	ENST00000388996.4	-	10	1850	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	477					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R477H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCTTTCATGCGGAAGGCCGT	0.473																																						ENST00000388996.4		NA																	1	Substitution - Missense(1)	p.R477H(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1429-1431)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 3							119.0	124.0	122.0					8																	133153411		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153411C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1430G>A	8.37:g.133153411C>T	ENSP00000373648:p.Arg477His	False	False		Somatic	0				KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	p.R477H	NM_004519.3	NP_004510.1	WXS	Illumina HiSeq	Phase_I	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1850	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		477					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1430G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011674	0.93346	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99735	-6.58;-6.58;-6.58	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.118141	0.56097	D	0.000027	D	0.99600	0.9855	M	0.64170	1.965	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-16.6136	18.6978	0.91607	0.0:1.0:0.0:0.0	.	477;477	E7ET42;O43525	.;KCNQ3_HUMAN	H	477;357;477;466;356	ENSP00000373648:R477H;ENSP00000429799:R357H;ENSP00000428790:R477H	ENSP00000373648:R477H	R	-	2	0	KCNQ3	133222593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.652000	0.90054	0.655000	0.94253	CGC		0.473	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	NM_004519		8:133153411
SEPHS2	22928	broad.mit.edu	37	16	30455811	30455811	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30455811G>A	ENST00000478753.2	-	1	1691	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	413					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GATCCGGGCCGTTCGGTTTCC	0.537																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2		NA																	0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1237-1239)aCg>aTg		selenophosphate synthetase 2							71.0	74.0	73.0					16																	30455811		1990	4148	6138	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30455811G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1238C>T	16.37:g.30455811G>A	ENSP00000418669:p.Thr413Met	False	False		Somatic	0				SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M|SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M	p.T413M			WXS	Illumina HiSeq	Phase_I	Q99611	SPS2_HUMAN			1	1691	-			413					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1238C>T		.	.	.	.	.	.	.	.	.	.	G	7.619	0.676333	0.14841	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.18174	2.23;2.23;2.23	5.28	4.32	0.51571	AIR synthase-related protein, C-terminal (2);	0.239370	0.39834	N	0.001245	T	0.18882	0.0453	L	0.61387	1.9	0.80722	D	1	P;B	0.42039	0.769;0.091	B;B	0.36186	0.219;0.082	T	0.03268	-1.1054	10	0.48119	T	0.1	-14.479	14.0137	0.64513	0.0:0.1527:0.8473:0.0	.	413;356	Q99611;F5H8F9	SPS2_HUMAN;.	M	413;356;364;413	ENSP00000418669:T413M;ENSP00000443601:T356M;ENSP00000426234:T413M	ENSP00000390233:T364M	T	-	2	0	SEPHS2	30363312	1.000000	0.71417	0.880000	0.34516	0.045000	0.14185	4.815000	0.62634	1.361000	0.45981	-0.176000	0.13171	ACG		0.537	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	0	NM_012248		16:30455811
GABARAPL3	23766	broad.mit.edu	37	15	90892199	90892199	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:90892199G>T	ENST00000412799.2	-	1	470	c.231C>A	c.(229-231)ttC>ttA	p.F77L				Q9BY60	GBRL3_HUMAN	GABA(A) receptors associated protein like 3, pseudogene	77					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)											TGACAAAGAAGAATAAGGCGT	0.483																																						ENST00000412799.2		NA																	0					NA						c.(229-231)ttC>ttA																																						SO:0001583	missense	0							g.chr15:90892199G>T	AF180519		15q26.1	2014-02-12	2010-10-13		ENSG00000238244	ENSG00000238244			4069	pseudogene	pseudogene			"""GABA(A) receptors associated protein like 3"", ""GABA(A) receptors associated protein like 3 (pseudogene)"""			11414770	Standard	NR_028287		Approved	ATG8D	uc010uqf.2	Q9BY60	OTTHUMG00000177213	ENST00000412799.2:c.231C>A	15.37:g.90892199G>T	ENSP00000394008:p.Phe77Leu	False	False		Somatic	0					p.F77L			WXS	Illumina HiSeq	Phase_I					1	470	-			NA						Missense_Mutation	SNP	ENST00000412799.2	37	c.231C>A		.	.	.	.	.	.	.	.	.	.	G	16.36	3.102021	0.56183	.	.	ENSG00000238244	ENST00000412799	T	0.58652	0.32	1.11	-0.897	0.10553	.	.	.	.	.	T	0.50820	0.1638	.	.	.	0.27214	N	0.95983	.	.	.	.	.	.	T	0.51568	-0.8689	6	0.87932	D	0	.	4.632	0.12506	0.4812:0.0:0.5188:0.0	.	.	.	.	L	77	ENSP00000394008:F77L	ENSP00000394008:F77L	F	-	3	2	GABARAPL3	88693203	1.000000	0.71417	0.721000	0.30653	0.910000	0.53928	2.279000	0.43435	-0.210000	0.10140	-0.373000	0.07131	TTC		0.483	GABARAPL3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NR_028287		15:90892199
METTL17	64745	broad.mit.edu	37	14	21464862	21464862	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:21464862G>A	ENST00000339374.6	+	13	1490	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	SLC39A2_ENST00000298681.4_5'Flank|METTL17_ENST00000382985.4_Silent_p.R419R|SLC39A2_ENST00000554422.1_5'Flank|METTL17_ENST00000556670.2_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	419					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGCCCGCCGGCACGGCAGGT	0.582																																						ENST00000339374.6		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1255-1257)cgG>cgA		methyltransferase like 17							88.0	85.0	86.0					14																	21464862		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464862G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1257G>A	14.37:g.21464862G>A		True	False		Somatic	0				METTL17_ENST00000382985.4_Silent_p.R419R|METTL17_ENST00000556670.2_Silent_p.R419R|RP11-84C10.4_ENST00000557335.1_RNA	p.R419R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	WXS	Illumina HiSeq	Phase_I	Q9H7H0	MET17_HUMAN			13	1490	+			419					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.1257G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239398	0.22711	.	.	ENSG00000165792	ENST00000556733	.	.	.	5.34	-0.867	0.10655	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	6.8405	0.23961	0.2595:0.2368:0.5037:0.0	.	.	.	.	T	95	.	.	A	+	1	0	METTL17	20534702	0.219000	0.23619	0.781000	0.31783	0.977000	0.68977	0.050000	0.14120	-0.066000	0.12998	0.655000	0.94253	GCA		0.582	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	0	NM_022734		14:21464862
RGMA	56963	broad.mit.edu	37	15	93595475	93595475	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:93595475C>T	ENST00000329082.7	-	3	664	c.393G>A	c.(391-393)ccG>ccA	p.P131P	RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000556658.1_Silent_p.P22P	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	131					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647																																						ENST00000329082.7		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(391-393)ccG>ccA		repulsive guidance molecule family member a							38.0	47.0	44.0					15																	93595475		2190	4294	6484	SO:0001819	synonymous_variant	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595475C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.393G>A	15.37:g.93595475C>T		True	False		Somatic	0				RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000425933.2_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556087.1_Silent_p.P115P	p.P131P	NM_020211.2	NP_064596	WXS	Illumina HiSeq	Phase_I	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	664	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		131					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	c.393G>A	CCDS45357.1																																																																																				0.647	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	0	NM_020211		15:93595475
MDN1	23195	broad.mit.edu	37	6	90422465	90422465	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:90422465C>T	ENST00000369393.3	-	48	7374	c.7259G>A	c.(7258-7260)cGa>cAa	p.R2420Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGTGCTCGCAAAGAAGA	0.448																																						ENST00000369393.3		NA																	0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7258-7260)cGa>cAa		MDN1, midasin homolog (yeast)							71.0	68.0	69.0					6																	90422465		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90422465C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7259G>A	6.37:g.90422465C>T	ENSP00000358400:p.Arg2420Gln	False	False		Somatic	0				MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q	p.R2420Q			WXS	Illumina HiSeq	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	48	7374	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2420					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.7259G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093904	0.20471	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02837	4.14;4.14	5.62	-6.75	0.01738	.	1.628850	0.03584	N	0.230613	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.47649	-0.9101	10	0.13108	T	0.6	.	6.2293	0.20726	0.0757:0.219:0.127:0.5784	.	2420	Q9NU22	MDN1_HUMAN	Q	2420	ENSP00000358400:R2420Q;ENSP00000413970:R2420Q	ENSP00000358400:R2420Q	R	-	2	0	MDN1	90479186	0.000000	0.05858	0.005000	0.12908	0.504000	0.33889	-1.025000	0.03600	-0.943000	0.03691	0.467000	0.42956	CGA		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0			6:90422465
AMOTL2	51421	broad.mit.edu	37	3	134090033	134090033	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:134090033G>A	ENST00000422605.2	-	2	409	c.243C>T	c.(241-243)ggC>ggT	p.G81G	AMOTL2_ENST00000249883.5_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.G139G|AMOTL2_ENST00000513145.1_Silent_p.G81G			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	81					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGTTCTCACCGCCCTGGTGCT	0.677																																						ENST00000514516.1		NA																	0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(415-417)ggC>ggT		angiomotin like 2							51.0	44.0	46.0					3																	134090033		2203	4300	6503	SO:0001819	synonymous_variant	51421							g.chr3:134090033G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.243C>T	3.37:g.134090033G>A		True	False		Somatic	0				AMOTL2_ENST00000422605.2_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000513145.1_Silent_p.G81G	p.G139G	NM_001278683.1	NP_001265612.1	WXS	Illumina HiSeq	Phase_I	Q9Y2J4	AMOL2_HUMAN			2	595	-			81					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.417C>T																																																																																					0.677	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	0	NM_016201		3:134090033
PHKB	5257	broad.mit.edu	37	16	47683068	47683068	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:47683068G>A	ENST00000323584.5	+	18	1774	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	PHKB_ENST00000455779.1_Missense_Mutation_p.D577N|PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	584					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGACCTAAGTGATTTCTACAT	0.343																																						ENST00000455779.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(1729-1731)Gat>Aat		phosphorylase kinase, beta							171.0	160.0	164.0					16																	47683068		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47683068G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1750G>A	16.37:g.47683068G>A	ENSP00000313504:p.Asp584Asn	False	False		Somatic	0				PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000323584.5_Missense_Mutation_p.D584N	p.D577N			WXS	Illumina HiSeq	Phase_I	Q93100	KPBB_HUMAN			19	1914	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	584					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1729G>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512079	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91180	-2.8;-2.8	5.89	5.89	0.94794	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95278	0.8383	10	0.59425	D	0.04	-29.7077	19.8459	0.96707	0.0:0.0:1.0:0.0	.	584;577	Q93100;Q93100-4	KPBB_HUMAN;.	N	577;577;584	ENSP00000414345:D577N;ENSP00000313504:D584N	ENSP00000299167:D577N	D	+	1	0	PHKB	46240569	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.037000	0.93765	2.788000	0.95919	0.585000	0.79938	GAT		0.343	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1	0			16:47683068
KIAA0922	23240	broad.mit.edu	37	4	154542991	154542991	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409663.3	+	28	3898	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H|KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1282						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCTGCCCAGAGAGAGGCAG	0.423																																						ENST00000409663.3		NA																	0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3844-3846)caG>caT		KIAA0922							104.0	99.0	101.0					4																	154542991		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154542991G>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3846G>T	4.37:g.154542991G>T	ENSP00000386574:p.Gln1282His	True	False		Somatic	0				KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H	p.Q1282H	NM_015196.3	NP_056011.3	WXS	Illumina HiSeq	Phase_I	A2VDJ0	T131L_HUMAN			28	3898	+	all_hematologic(180;0.093)	Renal(120;0.118)	1282					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3846G>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431059	0.25726	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.42;2.15;2.42;2.15	5.16	3.08	0.35506	.	0.507289	0.20653	N	0.088171	T	0.28962	0.0719	L	0.43152	1.355	0.24200	N	0.995515	D;P;P	0.71674	0.998;0.925;0.877	P;P;P	0.62560	0.904;0.667;0.467	T	0.04053	-1.0981	10	0.31617	T	0.26	-3.8639	7.293	0.26376	0.1656:0.0:0.6948:0.1396	.	1199;1283;1282	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	1282;1199;1283;1060	ENSP00000386574:Q1282H;ENSP00000409663:Q1199H;ENSP00000386787:Q1283H;ENSP00000240487:Q1060H	ENSP00000240487:Q1060H	Q	+	3	2	KIAA0922	154762441	1.000000	0.71417	0.947000	0.38551	0.251000	0.25915	1.834000	0.39171	1.173000	0.42796	0.655000	0.94253	CAG		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	0	NM_015196		4:154542991
LRRN4	164312	broad.mit.edu	37	20	6021941	6021941	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:6021941G>A	ENST00000378858.4	-	5	2174	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	650	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCAGCACGCACACGCGGT	0.721																																						ENST00000378858.4		NA																	0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1948-1950)tgC>tgT		leucine rich repeat neuronal 4							16.0	16.0	16.0					20																	6021941		2186	4273	6459	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6021941G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1950C>T	20.37:g.6021941G>A		True	False		Somatic	0					p.C650C	NM_152611.4	NP_689824.2	WXS	Illumina HiSeq	Phase_I	Q8WUT4	LRRN4_HUMAN			5	2174	-			650			Fibronectin type-III.		A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.1950C>T	CCDS13097.1																																																																																				0.721	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	0	NM_152611		20:6021941
IL17RE	132014	broad.mit.edu	37	3	9956176	9956176	+	Intron	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:9956176C>T	ENST00000383814.3	+	14	1401				IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000416074.2_5'Flank|IL17RE_ENST00000295980.3_Intron|IL17RC_ENST00000383812.4_5'Flank|IL17RE_ENST00000454190.2_Silent_p.S438S|IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000455057.1_5'Flank|IL17RE_ENST00000421412.1_Intron|IL17RC_ENST00000413608.1_5'Flank	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E						inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTTCACTCAGCTCCCCGGGAG	0.612																																						ENST00000454190.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21						c.(1312-1314)agC>agT		interleukin 17 receptor E							23.0	26.0	25.0					3																	9956176		692	1591	2283	SO:0001627	intron_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9956176C>T	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1297-56C>T	3.37:g.9956176C>T		False	False		Somatic	0				IL17RE_ENST00000421412.1_Intron|IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000383814.3_Intron	p.S438S	NM_001193380.1	NP_001180309.1	WXS	Illumina HiSeq	Phase_I	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	14	1399	+			0					B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	c.1314C>T	CCDS2589.1																																																																																				0.612	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	0	NM_153480		3:9956176
PLCB3	5331	broad.mit.edu	37	11	64026576	64026576	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:64026576G>A	ENST00000540288.1	+	13	1488	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	462	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGATGGGCCGTATCCTGGTG	0.706																																						ENST00000540288.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1384-1386)cGt>cAt		phospholipase C, beta 3 (phosphatidylinositol-specific)							17.0	23.0	21.0					11																	64026576		2200	4296	6496	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026576G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1385G>A	11.37:g.64026576G>A	ENSP00000443631:p.Arg462His	False	False		Somatic	0				PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	p.R462H	NM_000932.2	NP_000923.1	WXS	Illumina HiSeq	Phase_I	Q01970	PLCB3_HUMAN			13	1488	+			462			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1385G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196608	0.79015	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.66995	-0.24;-0.24;-0.24	4.58	4.58	0.56647	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.123452	0.53938	D	0.000042	T	0.74230	0.3689	M	0.77486	2.375	0.45464	D	0.998435	D;D	0.63880	0.993;0.979	P;P	0.53593	0.73;0.697	T	0.78178	-0.2305	10	0.87932	D	0	.	9.9241	0.41481	0.0964:0.0:0.9036:0.0	.	395;462	G5E960;Q01970	.;PLCB3_HUMAN	H	462;462;395	ENSP00000279230:R462H;ENSP00000443631:R462H;ENSP00000324660:R395H	ENSP00000279230:R462H	R	+	2	0	PLCB3	63783152	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	4.876000	0.63079	2.111000	0.64477	0.561000	0.74099	CGT		0.706	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1	0			11:64026576
CTTNBP2	83992	broad.mit.edu	37	7	117432633	117432633	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:117432633G>A	ENST00000160373.3	-	4	708	c.617C>T	c.(616-618)aCg>aTg	p.T206M	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	206					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTCATTCGTCTTTTTCTT	0.463																																						ENST00000160373.3		NA																	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(616-618)aCg>aTg		cortactin binding protein 2							144.0	134.0	137.0					7																	117432633		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432633G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.617C>T	7.37:g.117432633G>A	ENSP00000160373:p.Thr206Met	True	False		Somatic	0					p.T206M	NM_033427.2	NP_219499.1	WXS	Illumina HiSeq	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	708	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		206					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.617C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396356	0.11638	.	.	ENSG00000077063	ENST00000160373	T	0.64260	-0.09	5.77	3.96	0.45880	.	0.457226	0.27139	N	0.020745	T	0.59945	0.2231	M	0.71581	2.175	0.25918	N	0.983145	B	0.19445	0.036	B	0.20384	0.029	T	0.56553	-0.7960	10	0.54805	T	0.06	-14.2498	10.3555	0.43960	0.0669:0.2536:0.6795:0.0	.	206	Q8WZ74	CTTB2_HUMAN	M	206	ENSP00000160373:T206M	ENSP00000160373:T206M	T	-	2	0	CTTNBP2	117219869	0.591000	0.26824	0.005000	0.12908	0.249000	0.25844	2.379000	0.44318	0.899000	0.36444	0.650000	0.86243	ACG		0.463	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	0	NM_033427		7:117432633
SLC16A10	117247	broad.mit.edu	37	6	111493921	111493921	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:111493921G>T	ENST00000368851.5	+	2	542	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	123					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCTCTCCATGGGGATGATTTT	0.428																																						ENST00000368851.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(367-369)Ggg>Tgg		solute carrier family 16 (aromatic amino acid transporter), member 10							156.0	143.0	148.0					6																	111493921		2203	4300	6503	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111493921G>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.367G>T	6.37:g.111493921G>T	ENSP00000357844:p.Gly123Trp	True	False		Somatic	0				SLC16A10_ENST00000465319.1_3'UTR	p.G123W	NM_018593.4	NP_061063.2	WXS	Illumina HiSeq	Phase_I	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	2	542	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	123					B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.367G>T	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.741282|4.741282	0.89573|0.89573	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.56103|.	0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Major facilitator superfamily domain, general substrate transporter (1);|.	0.092388|.	0.85682|.	D|.	0.000000|.	D|D	0.85344|0.85344	0.5675|0.5675	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88182|0.88182	0.2871|0.2871	10|5	0.87932|.	D|.	0|.	.|.	19.7204|19.7204	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	W|C	123;123;14|8	ENSP00000357844:G123W|.	ENSP00000357844:G123W|.	G|W	+|+	1|3	0|0	SLC16A10|SLC16A10	111600614|111600614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.414000|9.414000	0.97362|0.97362	2.662000|2.662000	0.90505|0.90505	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2	0			6:111493921
DUPD1	338599	broad.mit.edu	37	10	76797813	76797813	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:76797813G>A	ENST00000338487.5	-	3	443	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	148	Substrate binding. {ECO:0000305}.|Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCGGCCCATGACGCAGTGAA	0.617																																						ENST00000338487.5		NA																	0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(442-444)gtC>gtT		dual specificity phosphatase and pro isomerase domain containing 1							59.0	52.0	54.0					10																	76797813		2203	4300	6503	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76797813G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.444C>T	10.37:g.76797813G>A		False	False		Somatic	0					p.V148V	NM_001003892.1	NP_001003892.1	WXS	Illumina HiSeq	Phase_I	Q68J44	DUPD1_HUMAN			3	443	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		148			Substrate binding (Probable).|Tyrosine-protein phosphatase.		B2RP93	Silent	SNP	ENST00000338487.5	37	c.444C>T	CCDS31223.1																																																																																				0.617	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	0	XM_291741		10:76797813
PARD6A	50855	broad.mit.edu	37	16	67695975	67695975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67695975C>T	ENST00000219255.3	+	3	546	c.466C>T	c.(466-468)Cga>Tga	p.R156*	ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000458121.2_Nonsense_Mutation_p.R155*			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	156	Interaction with PARD3 and CDC42. {ECO:0000250}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGACCCACCGACGGGTGCG	0.647																																						ENST00000458121.2		NA																	0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(463-465)Cga>Tga		par-6 family cell polarity regulator alpha							64.0	67.0	66.0					16																	67695975		2198	4300	6498	SO:0001587	stop_gained	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67695975C>T		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.466C>T	16.37:g.67695975C>T	ENSP00000219255:p.Arg156*	False	False		Somatic	0				PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|PARD6A_ENST00000219255.3_Nonsense_Mutation_p.R156*	p.R155*	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	WXS	Illumina HiSeq	Phase_I	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	554	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	156			Interaction with PARD3 and CDC42 (By similarity).		O14911|Q9NPJ7	Nonsense_Mutation	SNP	ENST00000219255.3	37	c.463C>T	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342839	0.82022	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	.	.	.	5.07	4.1	0.47936	.	0.073470	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4892	11.7101	0.51620	0.3209:0.6791:0.0:0.0	.	.	.	.	X	155;156	.	ENSP00000219255:R156X	R	+	1	2	PARD6A	66253476	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.149000	0.42244	1.091000	0.41335	0.563000	0.77884	CGA		0.647	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	0	NM_016948		16:67695975
ZBP1	81030	broad.mit.edu	37	20	56186849	56186849	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:56186849T>G	ENST00000371173.3	-	6	985	c.808A>C	c.(808-810)Aat>Cat	p.N270H	ZBP1_ENST00000340462.4_Missense_Mutation_p.N247H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	270					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTCATCTCATTGCTGTGTCCC	0.632																																						ENST00000340462.4		NA																	0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(739-741)Aat>Cat		Z-DNA binding protein 1							38.0	39.0	39.0					20																	56186849		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56186849T>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.808A>C	20.37:g.56186849T>G	ENSP00000360215:p.Asn270His	False	False		Somatic	0				ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000371173.3_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H	p.N247H			WXS	Illumina HiSeq	Phase_I	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	1019	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		270					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.739A>C	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216027	0.39201	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.23348	2.29;1.91;2.29;2.26	3.25	2.09	0.27110	.	0.365705	0.19940	N	0.102675	T	0.38904	0.1058	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07233	-1.0783	10	0.87932	D	0	-23.1631	6.3696	0.21473	0.0:0.0:0.2548:0.7452	.	270;195;270	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	H	270;195;247;270;270	ENSP00000360215:N270H;ENSP00000379167:N195H;ENSP00000344954:N247H;ENSP00000340584:N270H	ENSP00000344954:N247H	N	-	1	0	ZBP1	55620255	0.552000	0.26505	0.002000	0.10522	0.036000	0.12997	1.422000	0.34826	0.592000	0.29728	0.454000	0.30748	AAT		0.632	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	0	NM_030776		20:56186849
FBXO3	26273	broad.mit.edu	37	11	33763531	33763531	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763531C>T	ENST00000265651.3	-	11	1357	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.E334K	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCATCATCTTCATCTGATTCA	0.483																																						ENST00000526785.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1000-1002)Gaa>Aaa		F-box protein 3							211.0	161.0	178.0					11																	33763531		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763531C>T	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1339G>A	11.37:g.33763531C>T	ENSP00000265651:p.Glu447Lys	True	False		Somatic	0				FBXO3_ENST00000265651.3_Missense_Mutation_p.E447K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K	p.E334K			WXS	Illumina HiSeq	Phase_I	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4751	-		Lung NSC(402;0.0804)	447			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.1000G>A	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476081	0.63737	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.78	4.78	0.61160	.	0.143577	0.32372	N	0.006184	T	0.71609	0.3360	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.62184	0.899	T	0.76759	-0.2841	10	0.66056	D	0.02	-6.8063	15.9536	0.79861	0.0:1.0:0.0:0.0	.	447	Q9UK99	FBX3_HUMAN	K	334;447;134;134	ENSP00000435680:E334K;ENSP00000265651:E447K;ENSP00000435165:E134K;ENSP00000434001:E134K	ENSP00000265651:E447K	E	-	1	0	FBXO3	33720107	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	4.196000	0.58407	2.339000	0.79563	0.561000	0.74099	GAA		0.483	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	0	NM_012175		11:33763531
KRTAP4-4	84616	broad.mit.edu	37	17	39316773	39316773	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39316773C>T	ENST00000390661.3	-	1	210	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	57	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGGTGGTCCTGCAGCAGG	0.662																																						ENST00000390661.3		NA																	0				kidney(1)|large_intestine(1)|lung(5)	7						c.(169-171)agG>agA		keratin associated protein 4-4							43.0	51.0	48.0					17																	39316773		2201	4298	6499	SO:0001819	synonymous_variant	84616					keratin filament		g.chr17:39316773C>T	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.171G>A	17.37:g.39316773C>T		False	False		Somatic	0					p.R57R	NM_032524.1	NP_115913.1	WXS	Illumina HiSeq	Phase_I	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	210	-		Breast(137;0.000496)	57		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Silent	SNP	ENST00000390661.3	37	c.171G>A	CCDS11383.1																																																																																				0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1	0			17:39316773
TNRC6B	23112	broad.mit.edu	37	22	40662850	40662850	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40662850C>T	ENST00000454349.2	+	5	2827	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	872	Interaction with argonaute proteins.|Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATGAGGAACCCAGTGGTTGGG	0.552																																						ENST00000454349.2		NA																	0				breast(1)	1						c.(2614-2616)ccC>ccT		trinucleotide repeat containing 6B							39.0	41.0	40.0					22																	40662850		2109	4237	6346	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662850C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2616C>T	22.37:g.40662850C>T		True	False		Somatic	0				TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P|TNRC6B_ENST00000301923.9_Intron	p.P872P	NM_001162501.1	NP_001155973.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ9	TNR6B_HUMAN			5	2827	+			872			Pro-rich.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.2616C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117318	0.20795	.	.	ENSG00000100354	ENST00000446273	T	0.24538	1.85	5.46	5.46	0.80206	.	0.052766	0.85682	D	0.000000	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16217	-1.0410	7	0.72032	D	0.01	-4.2812	6.4872	0.22095	0.3133:0.6:0.0:0.0866	.	.	.	.	L	615	ENSP00000409429:P615L	ENSP00000409429:P615L	P	+	2	0	TNRC6B	38992796	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	2.561000	0.86390	0.561000	0.74099	CCA		0.552	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		0			22:40662850
GIF	2694	broad.mit.edu	37	11	59599213	59599213	+	Missense_Mutation	SNP	G	G	A	rs370902375		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:59599213G>A	ENST00000257248.2	-	8	1177	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	GIF_ENST00000541311.1_Missense_Mutation_p.A352V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	377					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.A377V(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AACATTTTCCGCGATATTGTT	0.368																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1		NA																	1	Substitution - Missense(1)	p.A377V(1)	upper_aerodigestive_tract(1)	large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1054-1056)gCg>gTg		gastric intrinsic factor (vitamin B synthesis)		G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	122.0	110.0	114.0		1130	4.4	1.0	11		114	2,8588	2.2+/-6.3	0,2,4293	no	missense	GIF	NM_005142.2	64	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	377/418	59599213	3,12989	2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59599213G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1130C>T	11.37:g.59599213G>A	ENSP00000257248:p.Ala377Val	False	False		Somatic	0				GIF_ENST00000257248.2_Missense_Mutation_p.A377V	p.A352V			WXS	Illumina HiSeq	Phase_I	P27352	IF_HUMAN			8	1289	-			377					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.1055C>T	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111534	0.20714	2.27E-4	2.33E-4	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.42131	1.09;0.98	5.41	4.41	0.53225	.	0.412532	0.22845	N	0.054935	T	0.28234	0.0697	L	0.53249	1.67	0.20821	N	0.999847	P	0.43909	0.821	B	0.17098	0.017	T	0.35076	-0.9803	10	0.25751	T	0.34	-10.6094	12.1115	0.53842	0.0:0.0:0.8172:0.1828	.	377	P27352	IF_HUMAN	V	377;352	ENSP00000257248:A377V;ENSP00000440427:A352V	ENSP00000257248:A377V	A	-	2	0	GIF	59355789	0.563000	0.26594	0.980000	0.43619	0.764000	0.43329	1.685000	0.37659	2.532000	0.85374	0.655000	0.94253	GCG		0.368	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	0	NM_005142		11:59599213
LAMA5	3911	broad.mit.edu	37	20	60921843	60921843	+	Silent	SNP	G	G	A	rs373700695		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370692.3_Silent_p.Y362Y|LAMA5_ENST00000370677.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	362	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATGGCCGTAGCAGTTAC	0.667																																						ENST00000252999.3		NA																	0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1084-1086)taC>taT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	A		1,4397	2.1+/-5.4	0,1,2198	29.0	32.0	31.0		1086	-9.7	0.3	20		31	0,8590		0,0,4295	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		362/3696	60921843	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921843G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1086C>T	20.37:g.60921843G>A		False	False		Somatic	0				LAMA5_ENST00000370692.3_Silent_p.Y362Y|LAMA5_ENST00000370677.3_Silent_p.Y362Y	p.Y362Y	NM_005560.3	NP_005551.3	WXS	Illumina HiSeq	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1152	-	Breast(26;1.57e-08)		362			Laminin EGF-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.1086C>T	CCDS33502.1																																																																																				0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	NM_005560		20:60921843
ITPR3	3710	broad.mit.edu	37	6	33659689	33659689	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33659689G>A	ENST00000374316.5	+	55	8502	c.7442G>A	c.(7441-7443)cGc>cAc	p.R2481H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2481					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GACATTCTCCGCAAGCCCTCC	0.592																																						ENST00000374316.5		NA																	0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7441-7443)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							192.0	170.0	177.0					6																	33659689		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33659689G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7442G>A	6.37:g.33659689G>A	ENSP00000363435:p.Arg2481His	False	False		Somatic	0				ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H	p.R2481H			WXS	Illumina HiSeq	Phase_I	Q14573	ITPR3_HUMAN			55	8502	+			2481					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7442G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316045	0.95655	.	.	ENSG00000096433	ENST00000374316	D	0.92595	-3.07	4.68	4.68	0.58851	Ion transport (1);	0.216428	0.47093	D	0.000255	D	0.96147	0.8744	M	0.86651	2.83	0.80722	D	1	D;D	0.71674	0.998;0.983	D;P	0.68192	0.956;0.768	D	0.96515	0.9381	10	0.87932	D	0	-33.0666	18.2265	0.89918	0.0:0.0:1.0:0.0	.	2481;2151	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2481	ENSP00000363435:R2481H	ENSP00000363435:R2481H	R	+	2	0	ITPR3	33767667	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.650000	0.98490	2.615000	0.88500	0.555000	0.69702	CGC		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	NM_002224		6:33659689
NEGR1	257194	broad.mit.edu	37	1	71873147	71873147	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.5	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ZRANB2-AS2_ENST00000587306.1_RNA|NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K|ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	349					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGCATTCTTCAGGTAGA	0.428																																						ENST00000357731.5		NA																	0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1045-1047)aaG>aaA		neuronal growth regulator 1							85.0	85.0	85.0					1																	71873147		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:71873147C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1047G>A	1.37:g.71873147C>T		False	False		Somatic	0				ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K|NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000430605.1_RNA	p.K349K	NM_173808.2	NP_776169.2	WXS	Illumina HiSeq	Phase_I	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	7	1286	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	NA					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.1047G>A	CCDS661.1																																																																																				0.428	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	0	NM_173808		1:71873147
PMFBP1	83449	broad.mit.edu	37	16	72159998	72159998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:72159998G>A	ENST00000237353.10	-	15	2383	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000537792.1_5'Flank|PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.Q713*	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	713						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGGGCCTGCAGGCTCATT	0.527																																						ENST00000537465.1		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2137-2139)Cag>Tag		polyamine modulated factor 1 binding protein 1							172.0	167.0	168.0					16																	72159998		2198	4300	6498	SO:0001587	stop_gained	83449							g.chr16:72159998G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2122C>T	16.37:g.72159998G>A	ENSP00000237353:p.Gln708*	False	False		Somatic	0				PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q708*	p.Q713*			WXS	Illumina HiSeq	Phase_I	Q8TBY8	PMFBP_HUMAN			15	2295	-		Ovarian(137;0.179)	713					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000237353.10	37	c.2137C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	38	6.764837	0.97821	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	3.65	0.376	0.16193	.	0.562263	0.15003	N	0.286009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-8.2085	6.0918	0.19999	0.0:0.1753:0.4053:0.4194	.	.	.	.	X	713;708;563	.	ENSP00000237353:Q708X	Q	-	1	0	PMFBP1	70717499	0.865000	0.29922	0.202000	0.23494	0.018000	0.09664	0.360000	0.20250	0.113000	0.18004	-0.172000	0.13284	CAG		0.527	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	0	NM_031293		16:72159998
GABRB1	2560	broad.mit.edu	37	4	47163392	47163392	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:47163392T>C	ENST00000295454.3	+	4	659	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	123					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACACCTACTTTCTGAATGA	0.443																																						ENST00000295454.3		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(367-369)Ttt>Ctt		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						160.0	155.0	157.0					4																	47163392		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163392T>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.367T>C	4.37:g.47163392T>C	ENSP00000295454:p.Phe123Leu	True	False		Somatic	0				GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	p.F123L	NM_000812.3	NP_000803.2	WXS	Illumina HiSeq	Phase_I	P18505	GBRB1_HUMAN			4	659	+			123					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.367T>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740563	0.89573	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.73363	-0.74;-0.74;-0.74	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.86163	0.5867	M	0.82193	2.58	0.58432	D	0.999997	D;D	0.62365	0.991;0.979	P;D	0.74023	0.86;0.982	D	0.87603	0.2498	10	0.54805	T	0.06	-13.1774	14.0523	0.64745	0.0:0.0:0.0:1.0	.	53;123	F5GXV5;P18505	.;GBRB1_HUMAN	L	90;123;53	ENSP00000426753:F90L;ENSP00000295454:F123L;ENSP00000440330:F53L	ENSP00000295454:F123L	F	+	1	0	GABRB1	46858149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.109000	0.64355	0.528000	0.53228	TTT		0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	0			4:47163392
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)caA>caC		Kirsten rat sarcoma viral oncogene homolog							109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380275T>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	p.Q61H	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	374	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.183A>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25380275
KCNQ3	3786	broad.mit.edu	37	8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133142050G>A	ENST00000388996.4	-	15	2498	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGTGGTTCCGGGGGGCCTGT	0.547																																						ENST00000388996.4		NA																	1	Insertion - Frameshift(1)	p.E694fs*12(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2077-2079)cCg>cTg		potassium voltage-gated channel, KQT-like subfamily, member 3							89.0	79.0	82.0					8																	133142050		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142050G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2078C>T	8.37:g.133142050G>A	ENSP00000373648:p.Pro693Leu	True	False		Somatic	0				KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	p.P693L	NM_004519.3	NP_004510.1	WXS	Illumina HiSeq	Phase_I	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2498	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		693					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2078C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189602	0.21954	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98901	-5.21;-5.17;-5.22	5.49	3.51	0.40186	.	0.504521	0.23192	N	0.050897	D	0.91872	0.7427	N	0.08118	0	0.47737	D	0.999504	P;B	0.35328	0.495;0.178	B;B	0.17722	0.019;0.012	D	0.88843	0.3314	10	0.37606	T	0.19	-9.8678	3.0642	0.06209	0.0918:0.1206:0.4274:0.3601	.	681;693	E7ET42;O43525	.;KCNQ3_HUMAN	L	693;573;681;670;572	ENSP00000373648:P693L;ENSP00000429799:P573L;ENSP00000428790:P681L	ENSP00000373648:P693L	P	-	2	0	KCNQ3	133211232	0.989000	0.36119	0.712000	0.30502	0.718000	0.41266	2.135000	0.42112	1.330000	0.45394	0.549000	0.68633	CCG		0.547	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	0	NM_004519		8:133142050
RAB9BP1	9366	broad.mit.edu	37	5	104435497	104435497	+	lincRNA	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:104435497C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TCTTATATTTCGCTGATGTGA	0.413																																						ENST00000522464.1		NA																	0					NA																																														0							g.chr5:104435497C>T																													5.37:g.104435497C>T		True	False		Somatic	0				RP11-6N13.1_ENST00000503650.1_lincRNA				WXS	Illumina HiSeq	Phase_I					0	68	-			NA						RNA	SNP	ENST00000522464.1	37																																																																																						0.413	CTD-2374C24.1-002	PUTATIVE	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000374820.1	0			5:104435497
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:157488191G>A	ENST00000350026.5	+	9	2859	c.2858G>A	c.(2857-2859)gGc>gAc	p.G953D	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000346085.5_Missense_Mutation_p.G966D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537																																						ENST00000346085.5		NA																	0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2896-2898)gGc>gAc		AT rich interactive domain 1B (SWI1-like)							215.0	206.0	209.0					6																	157488191		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157488191G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2858G>A	6.37:g.157488191G>A	ENSP00000055163:p.Gly953Asp	False	False		Somatic	0				ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D	p.G966D	NM_020732.3	NP_065783.3	WXS	Illumina HiSeq	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	10	2898	+		Breast(66;0.000162)|Ovarian(120;0.0265)	953					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2897G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901677	0.52227	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25250	4.67;4.65;4.75;4.74;4.44;2.16;1.81	5.64	4.72	0.59763	.	0.204799	0.51477	D	0.000092	T	0.10121	0.0248	N	0.22421	0.69	0.44668	D	0.997656	P;P;P;P	0.49783	0.928;0.791;0.763;0.879	B;B;B;P	0.44897	0.44;0.196;0.387;0.463	T	0.04140	-1.0974	10	0.28530	T	0.3	.	10.2908	0.43594	0.0:0.1331:0.6468:0.22	.	203;953;966;895	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	D	966;953;953;895;370;422;375;20	ENSP00000344546:G966D;ENSP00000055163:G953D;ENSP00000356116:G953D;ENSP00000275248:G895D;ENSP00000412835:G422D;ENSP00000313006:G375D;ENSP00000383596:G20D	ENSP00000275248:G895D	G	+	2	0	ARID1B	157529883	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	2.809000	0.47971	2.657000	0.90304	0.655000	0.94253	GGC		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	0	NM_020732		6:157488191
MTHFD2L	441024	broad.mit.edu	37	4	75041057	75041057	+	Missense_Mutation	SNP	G	G	A	rs201351553		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:75041057G>A	ENST00000395759.2	+	3	415	c.388G>A	c.(388-390)Gta>Ata	p.V130I	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	130					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTTTTGGACGTAACTGATCA	0.368																																						ENST00000395759.2		NA																	0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(388-390)Gta>Ata		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							140.0	136.0	138.0					4																	75041057		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75041057G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.388G>A	4.37:g.75041057G>A	ENSP00000379108:p.Val130Ile	False	False		Somatic	0				MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I	p.V130I	NM_001144978.1	NP_001138450.1	WXS	Illumina HiSeq	Phase_I	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		3	415	+			72					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.388G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	7.970	0.748962	0.15710	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29917	1.97;1.56;1.55;1.98	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.213853	0.50627	N	0.000109	T	0.16642	0.0400	N	0.16201	0.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.08973	-1.0696	10	0.28530	T	0.3	-29.7782	6.9337	0.24455	0.8268:0.0:0.1732:0.0	.	130;72	Q9H903;Q9H903-3	MTD2L_HUMAN;.	I	130;72;72;72	ENSP00000379108:V130I;ENSP00000330982:V72I;ENSP00000352012:V72I;ENSP00000321984:V72I	ENSP00000321984:V72I	V	+	1	0	MTHFD2L	75259921	0.039000	0.19947	0.997000	0.53966	0.849000	0.48306	0.068000	0.14531	1.067000	0.40740	-0.268000	0.10319	GTA		0.368	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001004346		4:75041057
LLGL1	3996	broad.mit.edu	37	17	18138848	18138848	+	Missense_Mutation	SNP	C	C	T	rs141275484		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:18138848C>T	ENST00000316843.4	+	11	1445	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	450					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTGCTGCTGACGGGGTAGGTG	0.652																																						ENST00000316843.4		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1348-1350)aCg>aTg		lethal giant larvae homolog 1 (Drosophila)		C	MET/THR	0,4406		0,0,2203	93.0	80.0	84.0		1349	5.0	1.0	17	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	LLGL1	NM_004140.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	450/1065	18138848	1,13005	2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138848C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1349C>T	17.37:g.18138848C>T	ENSP00000321537:p.Thr450Met	True	False		Somatic	0					p.T450M	NM_004140.3	NP_004131	WXS	Illumina HiSeq	Phase_I	Q15334	L2GL1_HUMAN			11	1445	+	all_neural(463;0.228)		450					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1349C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090348	0.76756	0.0	1.16E-4	ENSG00000131899	ENST00000316843	T	0.33216	1.42	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.090164	0.85682	D	0.000000	T	0.66867	0.2833	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76094	-0.3085	10	0.87932	D	0	-27.9792	17.6696	0.88213	0.0:1.0:0.0:0.0	.	450	Q15334	L2GL1_HUMAN	M	450	ENSP00000321537:T450M	ENSP00000321537:T450M	T	+	2	0	LLGL1	18079573	1.000000	0.71417	0.963000	0.40424	0.227000	0.25037	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	ACG		0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3	0			17:18138848
ELMOD1	55531	broad.mit.edu	37	11	107462660	107462660	+	Intron	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:107462660G>C	ENST00000265840.7	+	1	180				ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000529675.1_3'UTR|AP000889.3_ENST00000600612.1_Missense_Mutation_p.L59F	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTGGGCTGTTGAGCTGCGCCT	0.657																																						ENST00000600612.1		NA																	0					NA						c.(175-177)ttG>ttC									16.0	18.0	17.0					11																	107462660		1927	4156	6083	SO:0001627	intron_variant	0							g.chr11:107462660G>C	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+525G>C	11.37:g.107462660G>C		False	False		Somatic	0				ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR	p.L59F			WXS	Illumina HiSeq	Phase_I					1	190	+			NA					B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.177G>C	CCDS44723.1																																																																																				0.657	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	0	NM_018712		11:107462660
CASS4	57091	broad.mit.edu	37	20	55012332	55012332	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:55012332G>T	ENST00000360314.3	+	3	374	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CASS4_ENST00000371336.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	50	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAAGCGAGGGTTGGTGGAAG	0.602																																						ENST00000371336.3		NA																	0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(148-150)gGt>gTt		Cas scaffolding protein family member 4							65.0	61.0	62.0					20																	55012332		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55012332G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.149G>T	20.37:g.55012332G>T	ENSP00000353462:p.Gly50Val	True	False		Somatic	0				CASS4_ENST00000360314.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	p.G50V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	WXS	Illumina HiSeq	Phase_I	Q9NQ75	CASS4_HUMAN			2	350	+			50			SH3.		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.149G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274043	0.80580	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.74737	-0.87;-0.87;-0.87	5.71	5.71	0.89125	Src homology-3 domain (4);	0.051653	0.85682	D	0.000000	D	0.91586	0.7342	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.93821	0.7119	10	0.87932	D	0	-42.9102	19.8625	0.96789	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	V	50	ENSP00000353462:G50V;ENSP00000360387:G50V;ENSP00000410027:G50V	ENSP00000353462:G50V	G	+	2	0	CASS4	54445739	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.431000	0.80335	2.689000	0.91719	0.655000	0.94253	GGT		0.602	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	0	NM_020356		20:55012332
KIFC1	3833	broad.mit.edu	37	6	33374225	33374225	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33374225T>C	ENST00000428849.2	+	8	2239	c.1789T>C	c.(1789-1791)Tcc>Ccc	p.S597P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	597	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGCAGCCTGTCCACGCTGGG	0.637																																						ENST00000428849.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1789-1791)Tcc>Ccc		kinesin family member C1							38.0	42.0	41.0					6																	33374225		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374225T>C	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1789T>C	6.37:g.33374225T>C	ENSP00000393963:p.Ser597Pro	False	False		Somatic	0					p.S597P	NM_002263.3	NP_002254.2	WXS	Illumina HiSeq	Phase_I	Q9BW19	KIFC1_HUMAN			8	2239	+			597					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1789T>C	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.145930	0.77888	.	.	ENSG00000237649	ENST00000428849	T	0.76839	-1.05	5.22	5.22	0.72569	Kinesin, motor domain (3);	0.057178	0.64402	D	0.000001	D	0.90133	0.6917	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92850	0.6296	10	0.87932	D	0	-1.8945	13.1064	0.59249	0.0:0.0:0.0:1.0	.	589;597	B4E063;Q9BW19	.;KIFC1_HUMAN	P	597	ENSP00000393963:S597P	ENSP00000393963:S597P	S	+	1	0	KIFC1	33482203	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.048000	0.49862	2.189000	0.69895	0.456000	0.33151	TCC		0.637	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	0	NM_002263		6:33374225
