#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
SKA3	221150	broad.mit.edu	37	13	21729289	21729290	+	Stop_Codon_Ins	INS	-	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:21729289_21729290insCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC	ENST00000314759.5	-	0	1363				SKA3_ENST00000400018.3_Splice_Site_p.373_374insVP*TWTEHPRCQQQRKL	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CACTGGAATTTCTGCAACAGAT	0.337																																						ENST00000400018.3		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1120-1122)aaa>GTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTGaaa		spindle and kinetochore associated complex subunit 3																																				SO:0001567	stop_retained_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729289_21729290insCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1187_1237dupGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG	13.37:g.21729289_21729290insCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC	ENSP00000319417:p.*413Valext*2	True	False		Somatic	0				SKA3_ENST00000314759.5_Stop_Codon_Ins	p.373_374insVP*TWTEHPRCQQQRKL	NM_001166017.1	NP_001159489.1	WXS	Illumina HiSeq	Phase_I	Q8IX90	SKA3_HUMAN			8	1189	-			373					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Splice_Site	INS	ENST00000314759.5	37	c.1120_1120insGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG	CCDS31946.1																																																																																				0.337	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	0	NM_145061		13:21729289
AARS	16	broad.mit.edu	37	16	70301695	70301696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:70301695_70301696insT	ENST00000261772.8	-	9	1231_1232	c.1088_1089insA	c.(1087-1089)gagfs	p.E363fs	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CCTTCTTCAGCTCAGGAAATGC	0.51											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8		NA																	0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1087-1089)gagfs		alanyl-tRNA synthetase	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70301695_70301696insT	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1089dupA	16.37:g.70301696_70301696dupT	ENSP00000261772:p.Glu363fs	False	False		Somatic	1	OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.E363fs	NM_001605.2	NP_001596.2	WXS	Illumina HiSeq	Phase_I	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	9	1231_1232	-		Ovarian(137;0.0365)	363						Frame_Shift_Ins	INS	ENST00000261772.8	37	c.1088_1089insA	CCDS32474.1																																																																																				0.510	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	0	NM_001605		16:70301695
KRTAP4-7	100132476	broad.mit.edu	37	17	39240817	39240818	+	Frame_Shift_Ins	INS	-	-	TCGC			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:39240817_39240818insTCGC	ENST00000391417.4	+	1	359_360	c.359_360insTCGC	c.(358-363)tgcctgfs	p.L121fs		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	176	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ccctgctgctgcCTGCGTCCAG	0.658																																						ENST00000391417.4		NA																	0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(358-363)tgcctgfs		keratin associated protein 4-7																																				SO:0001589	frameshift_variant	100132476							g.chr17:39240817_39240818insTCGC	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	Exception_encountered	17.37:g.39240817_39240818insTCGC	ENSP00000375236:p.Leu121fs	True	False		Somatic	0					p.L121fs	NM_033061.3	NP_149050.3	WXS	Illumina HiSeq	Phase_I					1	359_360	+			NA					A0AVM6|A8MQ08|A8MTL4	Frame_Shift_Ins	INS	ENST00000391417.4	37	c.359_360insTCGC	CCDS45673.1																																																																																				0.658	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1	0			17:39240817
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T	rs570205705		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:12785492_12785493insT	ENST00000359318.5	+	4	787_788	c.582_583insT	c.(583-585)tgtfs	p.C195fs	AADACL3_ENST00000332530.3_Frame_Shift_Ins_p.C125fs	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	195			C -> F (in dbSNP:rs7513079). {ECO:0000269|PubMed:14702039}.				hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455																																						ENST00000332530.3		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(373-375)tgtfs		arylacetamide deacetylase-like 3																																				SO:0001589	frameshift_variant	126767						hydrolase activity	g.chr1:12785492_12785493insT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.583dupT	1.37:g.12785493_12785493dupT	ENSP00000352268:p.Cys195fs	False	False		Somatic	1				AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.C195fs	p.C125fs	NM_001103169.1	NP_001096639.1	WXS	Illumina HiSeq	Phase_I	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	598_599	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	195					B3KXR9|Q5VUY1	Frame_Shift_Ins	INS	ENST00000359318.5	37	c.372_373insT	CCDS41253.1																																																																																				0.455	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	0	NM_001103170		1:12785492
ESPNP	284729	broad.mit.edu	37	1	17034456	17034463	+	RNA	DEL	GCGCGCGT	GCGCGCGT	-	rs140689885|rs58726851	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	GCGCGCGT	GCGCGCGT	-	-	GCGCGCGT	GCGCGCGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:17034456_17034463delGCGCGCGT	ENST00000492551.1	-	0	304_311					NR_026567.1				espin pseudogene																		CGTCGTGGGCGCGCGCGTGCGGGTCCGC	0.726														1012	0.202077	0.0446	0.2277	5008	,	,		27320	0.3135		0.2028	False		,,,				2504	0.2812					ENST00000492551.1		NA																	0					NA																																														0							g.chr1:17034456_17034463delGCGCGCGT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034456_17034463delGCGCGCGT		True	False		Somatic	1						NR_026567.1		WXS	Illumina HiSeq	Phase_I					0	304_311	-			NA						RNA	DEL	ENST00000492551.1	37																																																																																						0.726	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1	0			1:17034456
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	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
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAAAAAAAAAGTTGTTTTAAGAC	0.409																																						ENST00000505841.1		NA																	0					NA																																														0							g.chr1:47325313_47325315delGTT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325316_47325318delGTT		False	False		Somatic	2						NR_002788.2		WXS	Illumina HiSeq	Phase_I					0	1204	-			NA					Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.409	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	0	NR_002788		1:47325313
HGFAC	3083	broad.mit.edu	37	4	3449269	3449269	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:3449269G>A	ENST00000382774.3	+	11	1521	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	469	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTCTTCAACCGCACGACGGAC	0.662																																						ENST00000382774.3		NA																	0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1405-1407)cGc>cAc		HGF activator							168.0	147.0	154.0					4																	3449269		2203	4300	6503	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449269G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1406G>A	4.37:g.3449269G>A	ENSP00000372224:p.Arg469His	False	False		Somatic	0				HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	p.R469H	NM_001528.2	NP_001519.1	WXS	Illumina HiSeq	Phase_I	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1521	+			469			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1406G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726303	0.30593	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88818	-2.43;-2.43	3.59	-4.04	0.04010	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.403240	0.04595	N	0.397497	T	0.74943	0.3783	N	0.16098	0.37	0.09310	N	1	P;B	0.48589	0.912;0.147	B;B	0.41691	0.364;0.058	T	0.68401	-0.5418	10	0.36615	T	0.2	.	0.6507	0.00826	0.3713:0.1218:0.2609:0.2459	.	476;469	D6RAR4;Q04756	.;HGFA_HUMAN	H	469;476	ENSP00000372224:R469H;ENSP00000421801:R476H	ENSP00000372224:R469H	R	+	2	0	HGFAC	3419067	0.000000	0.05858	0.008000	0.14137	0.772000	0.43724	-1.195000	0.03043	-0.717000	0.04955	0.561000	0.74099	CGC		0.662	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3	0			4:3449269
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6		NA																	0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		False	False		Somatic	0				CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	WXS	Illumina HiSeq	Phase_I	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	0	NM_201453		9:70871889
PLXNB2	23654	broad.mit.edu	37	22	50722589	50722589	+	Silent	SNP	G	G	A	rs551050919		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:50722589G>A	ENST00000449103.1	-	13	2375	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	PLXNB2_ENST00000359337.4_Silent_p.Y745Y|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	745					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.Y788Y(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TATTCTTGCCGTAAGACTTGA	0.677													g|||	1	0.000199681	0.0	0.0	5008	,	,		9821	0.001		0.0	False		,,,				2504	0.0					ENST00000449103.1		NA																	1	Substitution - coding silent(1)	p.Y788Y(1)	prostate(1)	breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2233-2235)taC>taT		plexin B2							52.0	56.0	55.0					22																	50722589		2085	4203	6288	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722589G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2235C>T	22.37:g.50722589G>A		False	False		Somatic	0				PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.Y745Y	p.Y745Y			WXS	Illumina HiSeq	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	2375	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	745					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2235C>T	CCDS43035.1																																																																																				0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	0	NM_012401		22:50722589
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						ENST00000379806.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(433-435)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						102.0	94.0	97.0					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp	False	False		Somatic	0				PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D	p.G145D	NM_001173454.1	NP_001166925.1	WXS	Illumina HiSeq	Phase_I	P08559	ODPA_HUMAN			5	579	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.434G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1	0			X:19369427
ZFP69	339559	broad.mit.edu	37	1	40945109	40945109	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:40945109G>A	ENST00000372706.1	+	2	1082	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	ZFP69_ENST00000372705.3_Missense_Mutation_p.V26M			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	26	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAAGAAGGCCGTGGAGGGGGC	0.562																																						ENST00000372706.1		NA																	0					NA						c.(76-78)Gtg>Atg		ZFP69 zinc finger protein							47.0	49.0	49.0					1																	40945109		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40945109G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.76G>A	1.37:g.40945109G>A	ENSP00000361791:p.Val26Met	False	False		Somatic	0				ZFP69_ENST00000372705.3_Missense_Mutation_p.V26M	p.V26M			WXS	Illumina HiSeq	Phase_I					2	1082	+			NA					Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.76G>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	5.567	0.289429	0.10567	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05649	3.41;3.41	4.35	0.72	0.18214	.	0.964602	0.08443	N	0.945143	T	0.03739	0.0106	N	0.14661	0.345	0.19300	N	0.999973	B	0.17268	0.021	B	0.04013	0.001	T	0.43702	-0.9375	10	0.51188	T	0.08	.	3.2889	0.06942	0.5663:0.2115:0.2222:0.0	.	26	Q49AA0	ZN642_HUMAN	M	26	ENSP00000361791:V26M;ENSP00000361790:V26M	ENSP00000361790:V26M	V	+	1	0	ZNF642	40717696	0.135000	0.22499	0.800000	0.32199	0.030000	0.12068	0.096000	0.15147	0.261000	0.21753	-0.238000	0.12139	GTG		0.562	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	0	NM_198494		1:40945109
TENM1	10178	broad.mit.edu	37	X	123695525	123695525	+	Silent	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123695525A>G	ENST00000371130.3	-	14	2493	c.2430T>C	c.(2428-2430)gaT>gaC	p.D810D	TENM1_ENST00000422452.2_Silent_p.D810D	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	810					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTCACCTCCATCATTGTCCA	0.448																																						ENST00000422452.2		NA																	0					NA						c.(2428-2430)gaT>gaC		teneurin transmembrane protein 1							177.0	149.0	159.0					X																	123695525		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123695525A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2430T>C	X.37:g.123695525A>G		False	False		Somatic	0				TENM1_ENST00000371130.3_Silent_p.D810D	p.D810D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina HiSeq	Phase_I					14	2493	-			NA					B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.2430T>C	CCDS14609.1																																																																																				0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	0	NM_014253		X:123695525
HRASLS5	117245	broad.mit.edu	37	11	63257751	63257751	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:63257751G>A	ENST00000301790.4	-	2	392	c.233C>T	c.(232-234)cCg>cTg	p.P78L	HRASLS5_ENST00000540857.1_Missense_Mutation_p.P68L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	78							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAATGTGCCCGGCGGAGGCTG	0.493																																						ENST00000540857.1		NA																	0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(202-204)cCg>cTg		HRAS-like suppressor family, member 5							185.0	208.0	200.0					11																	63257751		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63257751G>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.233C>T	11.37:g.63257751G>A	ENSP00000301790:p.Pro78Leu	True	False		Somatic	0				HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L|HRASLS5_ENST00000301790.4_Missense_Mutation_p.P78L	p.P68L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	WXS	Illumina HiSeq	Phase_I	Q96KN8	HRSL5_HUMAN			2	335	-			78					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.203C>T	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114974	0.20795	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.26373	1.74;2.24;1.75	3.67	-1.79	0.07932	.	2.087150	0.02276	N	0.068944	T	0.13884	0.0336	N	0.14661	0.345	0.09310	N	1	B;P;B	0.41673	0.041;0.759;0.056	B;B;B	0.28305	0.016;0.088;0.019	T	0.38067	-0.9678	10	0.51188	T	0.08	-2.3493	10.9222	0.47171	0.0:0.0:0.5125:0.4875	.	78;68;78	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	68;78;78	ENSP00000444809:P68L;ENSP00000443873:P78L;ENSP00000301790:P78L	ENSP00000301790:P78L	P	-	2	0	HRASLS5	63014327	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.368000	0.07543	-0.331000	0.08501	-1.142000	0.01873	CCG		0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	0	NM_054108		11:63257751
CNTN3	5067	broad.mit.edu	37	3	74344358	74344358	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:74344358C>T	ENST00000263665.6	-	18	2458	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	811	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGGCTATTTGCAGAGACTTGA	0.383																																						ENST00000263665.6		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2431-2433)Gca>Aca		contactin 3 (plasmacytoma associated)							98.0	91.0	94.0					3																	74344358		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74344358C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2431G>A	3.37:g.74344358C>T	ENSP00000263665:p.Ala811Thr	False	False		Somatic	0					p.A811T	NM_020872.1	NP_065923.1	WXS	Illumina HiSeq	Phase_I	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2458	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	811			Fibronectin type-III 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2431G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619386	0.87460	.	.	ENSG00000113805	ENST00000263665	T	0.60299	0.2	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176408	0.50627	D	0.000108	T	0.62196	0.2408	M	0.63843	1.955	0.51233	D	0.999919	B	0.27166	0.17	B	0.37692	0.256	T	0.62863	-0.6764	10	0.59425	D	0.04	.	14.528	0.67902	0.1464:0.8535:0.0:0.0	.	811	Q9P232	CNTN3_HUMAN	T	811	ENSP00000263665:A811T	ENSP00000263665:A811T	A	-	1	0	CNTN3	74427048	1.000000	0.71417	0.435000	0.26784	0.996000	0.88848	5.357000	0.66058	2.649000	0.89929	0.650000	0.86243	GCA		0.383	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	0	NM_020872		3:74344358
GABRR3	200959	broad.mit.edu	37	3	97744480	97744480	+	RNA	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:97744480G>A	ENST00000472788.1	-	0	170					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTCTGAGGCCGCGCTTTGGTA	0.383																																						ENST00000472788.1		NA																	0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							165.0	156.0	159.0					3																	97744480		1839	4090	5929			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97744480G>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744480G>A		False	False		Somatic	0						NM_001105580.2	NP_001099050.1	WXS	Illumina HiSeq	Phase_I	A8MPY1	GBRR3_HUMAN			0	170	-			NA					Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.383	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2	0			3:97744480
SLC1A4	6509	broad.mit.edu	37	2	65245311	65245311	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:65245311G>A	ENST00000234256.3	+	6	1384	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	381					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GAACATGGACGGAGCAGCCAT	0.512																																						ENST00000234256.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1141-1143)Gga>Aga		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						133.0	123.0	126.0					2																	65245311		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65245311G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1141G>A	2.37:g.65245311G>A	ENSP00000234256:p.Gly381Arg	False	False		Somatic	0				SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	p.G381R	NM_003038.4	NP_003029.2	WXS	Illumina HiSeq	Phase_I	P43007	SATT_HUMAN			6	1384	+			381					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.1141G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	35	5.576656	0.96565	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	D;D	0.84370	-1.84;-1.84	6.17	6.17	0.99709	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96776	0.9572	9	.	.	.	-12.7631	20.8794	0.99867	0.0:0.0:1.0:0.0	.	381;83;381	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	R	83;301;381	ENSP00000431942:G83R;ENSP00000234256:G381R	.	G	+	1	0	SLC1A4	65098815	1.000000	0.71417	0.283000	0.24790	0.980000	0.70556	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA		0.512	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	0	NM_003038		2:65245311
RPL19	6143	broad.mit.edu	37	17	37360818	37360818	+	Missense_Mutation	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:37360818C>G	ENST00000225430.4	+	6	570	c.508C>G	c.(508-510)Cgc>Ggc	p.R170G	RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000579260.1_Missense_Mutation_p.R168G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	170					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAGGAAGCACGCAAGCGCCG	0.527																																						ENST00000579260.1		NA																	0				kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(502-504)Cgc>Ggc		ribosomal protein L19							75.0	81.0	79.0					17																	37360818		1925	4125	6050	SO:0001583	missense	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37360818C>G		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.508C>G	17.37:g.37360818C>G	ENSP00000225430:p.Arg170Gly	False	False		Somatic	0				RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000225430.4_Missense_Mutation_p.R170G	p.R168G			WXS	Illumina HiSeq	Phase_I	P84098	RL19_HUMAN			6	905	+			170					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	c.502C>G	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.165415	0.57476	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.33	4.37	0.52481	.	0.059366	0.64402	D	0.000004	T	0.72415	0.3457	M	0.93197	3.39	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73132	-0.4079	9	0.72032	D	0.01	.	8.6764	0.34181	0.1508:0.7734:0.0:0.0758	.	170	P84098	RL19_HUMAN	G	170	.	ENSP00000225430:R170G	R	+	1	0	RPL19	34614344	0.998000	0.40836	0.938000	0.37757	0.980000	0.70556	3.717000	0.54911	1.257000	0.44085	0.563000	0.77884	CGC		0.527	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	0	NM_000981		17:37360818
RNASE7	84659	broad.mit.edu	37	14	21511178	21511178	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:21511178C>T	ENST00000298690.4	+	2	284	c.27C>T	c.(25-27)tgC>tgT	p.C9C	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	9					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGGATTCTGCCCCCTTCTGC	0.572																																						ENST00000298690.4		NA																	0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(25-27)tgC>tgT		ribonuclease, RNase A family, 7							40.0	39.0	39.0					14																	21511178		2200	4300	6500	SO:0001819	synonymous_variant	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511178C>T	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.27C>T	14.37:g.21511178C>T		True	False		Somatic	0				NDRG2_ENST00000403829.3_Intron	p.C9C	NM_032572.3	NP_115961	WXS	Illumina HiSeq	Phase_I	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	284	+	all_cancers(95;0.000759)		9					P80927|P83685|Q546N3	Silent	SNP	ENST00000298690.4	37	c.27C>T	CCDS41914.1																																																																																				0.572	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	0	NM_032572		14:21511178
PPP1R3C	5507	broad.mit.edu	37	10	93389892	93389892	+	Missense_Mutation	SNP	T	T	C	rs373998228		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:93389892T>C	ENST00000238994.5	-	2	830	c.746A>G	c.(745-747)aAt>aGt	p.N249S		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTGACCATCATTGTTGTCCCA	0.453																																						ENST00000238994.5		NA																	0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(745-747)aAt>aGt		protein phosphatase 1, regulatory subunit 3C							105.0	94.0	98.0					10																	93389892		2203	4300	6503	SO:0001583	missense	5507						protein serine/threonine phosphatase activity	g.chr10:93389892T>C	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.746A>G	10.37:g.93389892T>C	ENSP00000238994:p.Asn249Ser	False	False		Somatic	0					p.N249S	NM_005398.5	NP_005389.1	WXS	Illumina HiSeq	Phase_I	Q9UQK1	PPR3C_HUMAN			2	830	-		Colorectal(252;0.235)	249			CBM21.|Interaction with EPM2A.			Missense_Mutation	SNP	ENST00000238994.5	37	c.746A>G	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.270056	0.59540	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.76316	-1.01	5.73	3.31	0.37934	Putative phosphatase regulatory subunit (2);	0.049016	0.85682	D	0.000000	D	0.90689	0.7079	H	0.97491	4.015	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.90361	0.4373	10	0.87932	D	0	-21.2088	8.006	0.30325	0.121:0.0672:0.0:0.8117	.	249	Q9UQK1	PPR3C_HUMAN	S	249;229;131	ENSP00000238994:N249S	ENSP00000238994:N249S	N	-	2	0	PPP1R3C	93379872	1.000000	0.71417	0.882000	0.34594	0.884000	0.51177	6.240000	0.72363	0.954000	0.37851	0.533000	0.62120	AAT		0.453	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	0	NM_005398		10:93389892
PTPRF	5792	broad.mit.edu	37	1	44064491	44064491	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:44064491G>A	ENST00000359947.4	+	13	2560	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000422171.2_Silent_p.Q97Q|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	740	Fibronectin type-III 5. {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)			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)				AGCATGGCCAGATCCGCGGCT	0.647																																						ENST00000359947.4		NA																	0				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.(2218-2220)caG>caA		protein tyrosine phosphatase, receptor type, F							62.0	55.0	58.0					1																	44064491		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.chr1:44064491G>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.2220G>A	1.37:g.44064491G>A		False	False		Somatic	0				PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.Q97Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q	p.Q740Q	NM_002840.3	NP_002831.2	WXS	Illumina HiSeq	Phase_I	P10586	PTPRF_HUMAN			13	2560	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	740			Fibronectin type-III 5.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.2220G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.913|8.913	0.959151|0.959151	0.18507|0.18507	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.58308|0.58308	0.2113|0.2113	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56062|0.56062	-0.8041|-0.8041	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.1759:0.0:0.8241:0.0|0.1759:0.0:0.8241:0.0	.|.	.|.	.|.	.|.	N|K	306;163|397	.|.	.|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43837078|43837078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.815000|1.815000	0.38981|0.38981	2.143000|2.143000	0.66587|0.66587	0.449000|0.449000	0.29647|0.29647	GAT|AGA		0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0			1:44064491
KRTAP10-3	386682	broad.mit.edu	37	21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	rs587619630	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		17583	0.0		0.0	False		,,,				2504	0.0					ENST00000391620.1		NA																	0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(367-369)Atc>Gtc		keratin associated protein 10-3							164.0	164.0	164.0					21																	45978232		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978232T>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.367A>G	21.37:g.45978232T>C	ENSP00000375478:p.Ile123Val	True	False		Somatic	0				TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.I123V	NM_198696.2	NP_941969.2	WXS	Illumina HiSeq	Phase_I	P60369	KR103_HUMAN			1	411	-			123			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.367A>G	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.850393	0.00066	.	.	ENSG00000212935	ENST00000391620	T	0.01209	5.17	3.53	1.68	0.24146	.	.	.	.	.	T	0.00440	0.0014	N	0.00765	-1.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.02654	T	1	.	7.2709	0.26256	0.0:0.7638:0.0:0.2362	.	123	P60369	KR103_HUMAN	V	123	ENSP00000375478:I123V	ENSP00000375478:I123V	I	-	1	0	KRTAP10-3	44802660	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.913000	0.01580	0.822000	0.34565	-0.232000	0.12228	ATC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1	0			21:45978232
AMER2	219287	broad.mit.edu	37	13	25744404	25744404	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:25744404C>T	ENST00000515384.1	-	1	2021	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	AMER2_ENST00000381853.3_Missense_Mutation_p.E333K|AMER2_ENST00000357816.2_Missense_Mutation_p.E333K|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	452					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TCCTGGGGCTCGGGTCCCTGC	0.657																																						ENST00000357816.2		NA																	0					NA						c.(997-999)Gag>Aag		APC membrane recruitment protein 2							24.0	22.0	22.0					13																	25744404		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744404C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1354G>A	13.37:g.25744404C>T	ENSP00000426528:p.Glu452Lys	True	False		Somatic	0				AMER2_ENST00000515384.1_Missense_Mutation_p.E452K|AMER2_ENST00000381853.3_Missense_Mutation_p.E333K	p.E333K			WXS	Illumina HiSeq	Phase_I					3	1472	-			NA					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.997G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	6.954	0.545819	0.13312	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.16897	2.31;2.31;2.31	4.6	4.6	0.57074	.	0.331247	0.28572	N	0.014875	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.005	B;B	0.14578	0.011;0.003	T	0.33954	-0.9848	10	0.09590	T	0.72	-5.5157	9.997	0.41905	0.0:0.8971:0.0:0.1029	.	452;333	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	333;333;452	ENSP00000350469:E333K;ENSP00000371277:E333K;ENSP00000426528:E452K	ENSP00000350469:E333K	E	-	1	0	FAM123A	24642404	0.000000	0.05858	0.023000	0.16930	0.064000	0.16182	0.150000	0.16263	2.383000	0.81215	0.561000	0.74099	GAG		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	0	NM_152704		13:25744404
ZNF687	57592	broad.mit.edu	37	1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGTGAGCGTACAGTTGGG	0.597																																						ENST00000368879.2		NA																	0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(1162-1164)Gta>Ata		zinc finger protein 687							72.0	64.0	67.0					1																	151259929		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259929G>A		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1162G>A	1.37:g.151259929G>A	ENSP00000357874:p.Val388Ile	False	False		Somatic	0					p.V388I	NM_020832.1	NP_065883.1	WXS	Illumina HiSeq	Phase_I	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1260	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		388					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613923	0.46631	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.92	5.27	5.27	0.74061	.	0.000000	0.32161	N	0.006495	T	0.01254	0.0041	L	0.44542	1.39	0.23089	N	0.998319	D;P;D	0.76494	0.996;0.954;0.999	P;B;P	0.56514	0.743;0.422;0.8	T	0.58312	-0.7658	9	.	.	.	.	17.8288	0.88674	0.0:0.0:1.0:0.0	.	388;388;388	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	I	388	ENSP00000336620:V388I;ENSP00000319829:V388I;ENSP00000357874:V388I	.	V	+	1	0	ZNF687	149526553	0.997000	0.39634	0.218000	0.23776	0.669000	0.39330	4.051000	0.57412	2.758000	0.94735	0.561000	0.74099	GTA		0.597	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		0	NM_020832		1:151259929
ATRX	546	broad.mit.edu	37	X	76918967	76918967	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:76918967G>A	ENST00000373344.5	-	12	4238	c.4024C>T	c.(4024-4026)Cgg>Tgg	p.R1342W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1304W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1342					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1342W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATTTGTGCCGCAAAAGCCTA	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5		NA		Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.R1342W(2)|p.?(1)	kidney(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4024-4026)Cgg>Tgg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						113.0	93.0	100.0					X																	76918967		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918967G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4024C>T	X.37:g.76918967G>A	ENSP00000362441:p.Arg1342Trp	False	False		Somatic	0				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1304W	p.R1342W	NM_000489.3	NP_000480.3	WXS	Illumina HiSeq	Phase_I	P46100	ATRX_HUMAN			12	4238	-			1342					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4024C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880033	0.72294	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.19;-3.18	4.16	2.88	0.33553	.	0.000000	0.64402	U	0.000002	D	0.95421	0.8513	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.993	D	0.94455	0.7671	10	0.87932	D	0	-7.7306	10.9129	0.47118	0.0:0.0:0.4405:0.5595	.	1274;1304;1342	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	W	1342;1304;1269	ENSP00000362441:R1342W;ENSP00000378967:R1304W	ENSP00000362441:R1342W	R	-	1	2	ATRX	76805623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.736000	0.47385	0.424000	0.26061	-0.314000	0.08810	CGG		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	0	NM_000489		X:76918967
CCNYL2	414194	broad.mit.edu	37	10	42928768	42928768	+	RNA	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:42928768G>A	ENST00000483242.3	-	0	732					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TGTCGAACATGAACTGTATTG	0.368																																						ENST00000483242.3		NA																	0				breast(2)|endometrium(1)|lung(3)|ovary(1)	7								cyclin Y-like 2																																						414194							g.chr10:42928768G>A	BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42928768G>A		False	False		Somatic	0						NR_103829.1		WXS	Illumina HiSeq	Phase_I					0	732	-			NA						RNA	SNP	ENST00000483242.3	37			.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.44|11.44	1.640864|1.640864	0.29157|0.29157	.|.	.|.	ENSG00000182632|ENSG00000182632	ENST00000431603|ENST00000426433	.|.	.|.	.|.	2.03|2.03	2.03|2.03	0.26663|0.26663	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.62792|0.62792	0.2457|0.2457	.|.	.|.	.|.	0.49389|0.49389	D|D	0.99978|0.99978	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.65672|0.65672	-0.6111|-0.6111	4|6	.|0.87932	.|D	.|0	.|.	7.6421|7.6421	0.28300|0.28300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	Y|L	48|122	.|.	.|ENSP00000395902:S122L	H|S	-|-	1|2	0|0	CCNYL2|CCNYL2	42248774|42248774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.047000|0.047000	0.14425|0.14425	6.761000|6.761000	0.74945|0.74945	1.467000|1.467000	0.48044|0.48044	0.298000|0.298000	0.19748|0.19748	CAT|TCA		0.368	CCNYL2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047670.5	0	XM_936368		10:42928768
PRPF38A	84950	broad.mit.edu	37	1	52870463	52870463	+	Silent	SNP	C	C	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:52870463C>G	ENST00000257181.9	+	1	228	c.42C>G	c.(40-42)ggC>ggG	p.G14G	ORC1_ENST00000371568.3_5'Flank|ORC1_ENST00000371566.1_5'Flank|PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	14					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GCATCCATGGCACCAACCCTC	0.463											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257181.9		NA																	0				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						c.(40-42)ggC>ggG		pre-mRNA processing factor 38A							107.0	97.0	100.0					1																	52870463		2203	4300	6503	SO:0001819	synonymous_variant	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52870463C>G	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.42C>G	1.37:g.52870463C>G		False	False		Somatic	0	OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	PRPF38A_ENST00000474048.1_3'UTR	p.G14G	NM_032864.3	NP_116253.2	WXS	Illumina HiSeq	Phase_I	Q8NAV1	PR38A_HUMAN			1	228	+			14					Q96JW1|Q9BVZ8	Silent	SNP	ENST00000257181.9	37	c.42C>G	CCDS567.1																																																																																				0.463	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	0	NM_032864		1:52870463
GBP1	2633	broad.mit.edu	37	1	89528769	89528769	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:89528769C>T	ENST00000370473.4	-	2	368	c.149G>A	c.(148-150)gGc>gAc	p.G50D		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	50	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTAGGATTTGCCTGTGCGGTA	0.517																																						ENST00000370473.4		NA																	0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(148-150)gGc>gAc		guanylate binding protein 1, interferon-inducible							145.0	130.0	135.0					1																	89528769		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89528769C>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.149G>A	1.37:g.89528769C>T	ENSP00000359504:p.Gly50Asp	False	False		Somatic	0					p.G50D	NM_002053.2	NP_002044.2	WXS	Illumina HiSeq	Phase_I	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	2	368	-		Lung NSC(277;0.123)	50					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.149G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057674	0.55325	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	D	0.97994	-4.65	4.76	4.76	0.60689	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.99415	4.555	0.45005	D	0.998025	D	0.89917	1.0	D	0.91635	0.999	D	0.98192	1.0463	10	0.87932	D	0	.	15.2561	0.73585	0.0:1.0:0.0:0.0	.	50	P32455	GBP1_HUMAN	D	50;13	ENSP00000359504:G50D	ENSP00000359504:G50D	G	-	2	0	GBP1	89301357	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.298000	0.59067	2.186000	0.69663	0.313000	0.20887	GGC		0.517	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	0	NM_002053		1:89528769
ZNFX1	57169	broad.mit.edu	37	20	47871123	47871123	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:47871123G>A	ENST00000396105.1	-	10	3114	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	ZNFX1_ENST00000371754.4_Silent_p.Y956Y|ZNFX1_ENST00000371752.1_Silent_p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	956							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGATGTGCGGTACTGGCGTT	0.512																																						ENST00000396105.1		NA																	0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2866-2868)taC>taT		zinc finger, NFX1-type containing 1							190.0	162.0	172.0					20																	47871123		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47871123G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2868C>T	20.37:g.47871123G>A		False	False		Somatic	0				ZNFX1_ENST00000371752.1_Silent_p.Y956Y|ZNFX1_ENST00000371754.4_Silent_p.Y956Y	p.Y956Y	NM_021035.2	NP_066363.1	WXS	Illumina HiSeq	Phase_I	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		10	3114	-			956					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.2868C>T	CCDS13417.1																																																																																				0.512	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	0	NM_021035		20:47871123
OSMR	9180	broad.mit.edu	37	5	38881767	38881767	+	Missense_Mutation	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:38881767T>C	ENST00000274276.3	+	4	721	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R	OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	107					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCCTTTGGAATGTGCCACACA	0.473																																						ENST00000274276.3		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(319-321)Tgt>Cgt		oncostatin M receptor							113.0	109.0	110.0					5																	38881767		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38881767T>C	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.319T>C	5.37:g.38881767T>C	ENSP00000274276:p.Cys107Arg	False	False		Somatic	0				OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	p.C107R	NM_003999.2	NP_003990.1	WXS	Illumina HiSeq	Phase_I	Q99650	OSMR_HUMAN			4	721	+	all_lung(31;0.000365)		107					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.319T>C	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215522	0.58452	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	.	0.098018	0.85682	D	0.000000	T	0.77948	0.4207	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80571	-0.1323	10	0.87932	D	0	.	12.5437	0.56186	0.0:0.0:0.0:1.0	.	107;107	Q99650;Q99650-2	OSMR_HUMAN;.	R	107	ENSP00000422023:C107R;ENSP00000274276:C107R	ENSP00000274276:C107R	C	+	1	0	OSMR	38917524	1.000000	0.71417	0.998000	0.56505	0.409000	0.31022	4.331000	0.59273	2.216000	0.71823	0.533000	0.62120	TGT		0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	0	NM_003999		5:38881767
MAB21L1	4081	broad.mit.edu	37	13	36049899	36049899	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:36049899C>T	ENST00000379919.4	-	1	933	c.377G>A	c.(376-378)cGc>cAc	p.R126H	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	126					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCGGATTTTGCGCGCCGAGAG	0.587																																						ENST00000379919.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(376-378)cGc>cAc		mab-21-like 1 (C. elegans)							44.0	45.0	45.0					13																	36049899		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049899C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.377G>A	13.37:g.36049899C>T	ENSP00000369251:p.Arg126His	True	False		Somatic	0				NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	p.R126H	NM_005584.4	NP_005575.1	WXS	Illumina HiSeq	Phase_I	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	933	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	126					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.377G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533938	0.85812	.	.	ENSG00000180660	ENST00000379919	T	0.08634	3.07	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06679	-1.0813	10	0.46703	T	0.11	-0.3257	19.7375	0.96212	0.0:1.0:0.0:0.0	.	126	Q13394	MB211_HUMAN	H	126	ENSP00000369251:R126H	ENSP00000369251:R126H	R	-	2	0	MAB21L1	34947899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	CGC		0.587	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	0	NM_005584		13:36049899
SORCS1	114815	broad.mit.edu	37	10	108923788	108923788	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:108923788G>A	ENST00000263054.6	-	1	504	c.497C>T	c.(496-498)gCg>gTg	p.A166V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	166					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCGTCAGCGCAAACGTGGT	0.607																																						ENST00000263054.6		NA																	0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(496-498)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							84.0	73.0	76.0					10																	108923788		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923788G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.497C>T	10.37:g.108923788G>A	ENSP00000263054:p.Ala166Val	False	False		Somatic	0				SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	WXS	Illumina HiSeq	Phase_I	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	504	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	166					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.497C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794235	0.31777	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.33654	1.4;1.4	5.16	5.16	0.70880	.	0.189340	0.36482	N	0.002569	T	0.31765	0.0807	N	0.11756	0.17	0.37005	D	0.895445	D;D;P;D;P	0.59767	0.977;0.986;0.954;0.977;0.954	B;P;P;P;P	0.51170	0.341;0.661;0.455;0.46;0.455	T	0.18555	-1.0333	9	.	.	.	-10.9687	17.3761	0.87392	0.0:0.0:1.0:0.0	.	166;166;166;166;166	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	166	ENSP00000263054:A166V;ENSP00000345964:A166V	.	A	-	2	0	SORCS1	108913778	1.000000	0.71417	0.984000	0.44739	0.457000	0.32468	4.741000	0.62095	2.666000	0.90696	0.655000	0.94253	GCG		0.607	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	0	NM_052918		10:108923788
IDO1	3620	broad.mit.edu	37	8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	rs200244502		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GGAGATGTCCGTAAGGTTTGG	0.393																																						ENST00000518237.1		NA																	0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(298-300)cGt>cAt		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)	G	HIS/ARG	0,3838		0,0,1919	117.0	110.0	112.0		299	1.4	0.0	8		112	1,8277		0,1,4138	yes	missense	IDO1	NM_002164.5	29	0,1,6057	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	100/404	39775722	1,12115	1919	4139	6058	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775722G>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.299G>A	8.37:g.39775722G>A	ENSP00000430950:p.Arg100His	False	False		Somatic	0				RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA	p.R100H	NM_002164.5	NP_002155.1	WXS	Illumina HiSeq	Phase_I	P14902	I23O1_HUMAN			3	938	+			100					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.299G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420693	0.42918	0.0	1.21E-4	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.45276	0.9;0.9;0.9	5.65	1.44	0.22558	.	0.907386	0.09317	N	0.818769	T	0.43255	0.1239	M	0.79475	2.455	0.09310	N	1	D	0.54047	0.964	P	0.45377	0.478	T	0.44360	-0.9333	9	.	.	.	-1.485	1.7288	0.02928	0.1757:0.2276:0.4465:0.1502	.	100	P14902	I23O1_HUMAN	H	100	ENSP00000428716:R100H;ENSP00000430505:R100H;ENSP00000430950:R100H	.	R	+	2	0	IDO1	39894879	0.000000	0.05858	0.003000	0.11579	0.237000	0.25408	0.234000	0.17930	0.751000	0.32900	0.585000	0.79938	CGT		0.393	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	0	NM_002164		8:39775722
ZFAND2A	90637	broad.mit.edu	37	7	1195155	1195155	+	Silent	SNP	T	T	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:1195155T>A	ENST00000316495.3	-	4	475	c.216A>T	c.(214-216)ccA>ccT	p.P72P	ZFAND2A_ENST00000401903.1_Silent_p.P72P	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	72					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCACCACGTCTGGTATCTGGC	0.483																																						ENST00000401903.1		NA																	0				lung(2)|ovary(1)	3						c.(214-216)ccA>ccT		zinc finger, AN1-type domain 2A							181.0	169.0	173.0					7																	1195155		2203	4300	6503	SO:0001819	synonymous_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1195155T>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.216A>T	7.37:g.1195155T>A		False	False		Somatic	0				ZFAND2A_ENST00000316495.3_Silent_p.P72P	p.P72P			WXS	Illumina HiSeq	Phase_I	Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	4	475	-		Ovarian(82;0.11)	72					A4D220	Silent	SNP	ENST00000316495.3	37	c.216A>T	CCDS5323.1																																																																																				0.483	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	0	NM_182491		7:1195155
SLC14A2	8170	broad.mit.edu	37	18	43246996	43246996	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr18:43246996A>G	ENST00000255226.6	+	13	2470	c.1654A>G	c.(1654-1656)Agg>Ggg	p.R552G	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	552					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGGGAAAAGGGTCAGCAA	0.478																																						ENST00000255226.6		NA																	0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1654-1656)Agg>Ggg		solute carrier family 14 (urea transporter), member 2							91.0	84.0	87.0					18																	43246996		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43246996A>G	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1654A>G	18.37:g.43246996A>G	ENSP00000255226:p.Arg552Gly	True	False		Somatic	0				SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	p.R552G	NM_007163.3	NP_009094.3	WXS	Illumina HiSeq	Phase_I	Q15849	UT2_HUMAN			13	2470	+			552					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1654A>G	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	6.688	0.495556	0.12762	.	.	ENSG00000132874	ENST00000255226	T	0.36699	1.24	4.37	4.37	0.52481	.	0.340286	0.24960	N	0.034236	T	0.31544	0.0800	L	0.50333	1.59	0.32344	N	0.559296	B	0.12630	0.006	B	0.20955	0.032	T	0.34950	-0.9808	10	0.38643	T	0.18	-7.2644	9.2009	0.37258	0.8181:0.1819:0.0:0.0	.	552	Q15849	UT2_HUMAN	G	552	ENSP00000255226:R552G	ENSP00000255226:R552G	R	+	1	2	SLC14A2	41500994	0.038000	0.19896	0.307000	0.25127	0.095000	0.18619	0.812000	0.27211	1.827000	0.53221	0.533000	0.62120	AGG		0.478	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1	0			18:43246996
KRIT1	889	broad.mit.edu	37	7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:91865794G>A	ENST00000340022.2	-	7	1436	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318																																						ENST00000394507.1		NA																	1	Substitution - Nonsense(1)	p.R140*(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(418-420)Cga>Tga		KRIT1, ankyrin repeat containing							99.0	104.0	102.0					7																	91865794		2203	4299	6502	SO:0001587	stop_gained	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91865794G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.418C>T	7.37:g.91865794G>A	ENSP00000344668:p.Arg140*	False	False		Somatic	0				KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*	p.R140*	NM_194456.1	NP_919438.1	WXS	Illumina HiSeq	Phase_I	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1201	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		140					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	37	c.418C>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	38	7.271354	0.98179	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7004	15.7344	0.77831	0.0:0.0:0.2068:0.7932	.	.	.	.	X	140	.	ENSP00000344668:R140X	R	-	1	2	KRIT1	91703730	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.282000	0.33226	0.065000	0.16485	-0.238000	0.12139	CGA		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1	0			7:91865794
KPTN	11133	broad.mit.edu	37	19	47986554	47986554	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:47986554G>A	ENST00000338134.3	-	3	499	c.392C>T	c.(391-393)gCc>gTc	p.A131V	NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	131					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCACTCACGGGCAATAGAGTC	0.617											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338134.3		NA																	0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(391-393)gCc>gTc		kaptin (actin binding protein)							117.0	130.0	126.0					19																	47986554		2086	4201	6287	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47986554G>A	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.392C>T	19.37:g.47986554G>A	ENSP00000337850:p.Ala131Val	True	False		Somatic	0	OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	951	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	p.A131V	NM_007059.2	NP_008990.2	WXS	Illumina HiSeq	Phase_I	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	3	499	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	131					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.392C>T	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458714	0.96240	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84270	0.0488	9	0.72032	D	0.01	-25.3185	16.3782	0.83418	0.0:0.0:1.0:0.0	.	131	Q9Y664	KPTN_HUMAN	V	131	.	ENSP00000337850:A131V	A	-	2	0	KPTN	52678366	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.893000	0.92498	2.214000	0.71695	0.491000	0.48974	GCC		0.617	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2	0			19:47986554
GALNT10	55568	broad.mit.edu	37	5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	253	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502																																						ENST00000297107.6		NA																	0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(757-759)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							180.0	154.0	163.0					5																	153760011		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760011G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.758G>A	5.37:g.153760011G>A	ENSP00000297107:p.Arg253His	False	False		Somatic	0				GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000519544.1_3'UTR	p.R253H	NM_198321.3	NP_938080.1	WXS	Illumina HiSeq	Phase_I	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	895	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	253			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.758G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	GALNT10	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	0	NM_198321		5:153760011
UROC1	131669	broad.mit.edu	37	3	126218205	126218205	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:126218205G>T	ENST00000290868.2	-	13	1344	c.1291C>A	c.(1291-1293)Cct>Act	p.P431T	UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	431					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACATAGGAAGGGTAGCGGAAC	0.627																																						ENST00000290868.2		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1291-1293)Cct>Act		urocanate hydratase 1							114.0	75.0	88.0					3																	126218205		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126218205G>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1291C>A	3.37:g.126218205G>T	ENSP00000290868:p.Pro431Thr	True	False		Somatic	0				UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	p.P431T	NM_144639.2	NP_653240.1	WXS	Illumina HiSeq	Phase_I	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	13	1344	-			431					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1291C>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583912	0.65992	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.64438	-0.1;-0.1	4.89	4.89	0.63831	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90105	0.4187	10	0.72032	D	0.01	0.5184	15.5628	0.76262	0.0:0.0:1.0:0.0	.	491;431	E9PE13;Q96N76	.;HUTU_HUMAN	T	431;491	ENSP00000290868:P431T;ENSP00000373073:P491T	ENSP00000290868:P431T	P	-	1	0	UROC1	127700895	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.216000	0.95154	2.262000	0.75019	0.585000	0.79938	CCT		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	0	NM_144639		3:126218205
ITFG2	55846	broad.mit.edu	37	12	2929350	2929350	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:2929350G>A	ENST00000228799.2	+	5	644	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	ITFG2_ENST00000419778.2_5'UTR|ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	169					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACATCTGACAGGGCAGCTGGT	0.597																																						ENST00000228799.2		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(505-507)Ggg>Agg		integrin alpha FG-GAP repeat containing 2							99.0	72.0	81.0					12																	2929350		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2929350G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.505G>A	12.37:g.2929350G>A	ENSP00000228799:p.Gly169Arg	True	False		Somatic	0				ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	p.G169R	NM_018463.3	NP_060933.3	WXS	Illumina HiSeq	Phase_I	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	644	+			169					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.505G>A	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914335	0.92178	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T;T	0.73152	-0.72;1.97	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87007	0.2120	10	0.72032	D	0.01	-0.3388	16.5494	0.84464	0.0:0.0:1.0:0.0	.	169	Q969R8	ITFG2_HUMAN	R	169;57	ENSP00000228799:G169R;ENSP00000437870:G57R	ENSP00000228799:G169R	G	+	1	0	ITFG2	2799611	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	9.238000	0.95380	2.384000	0.81235	0.561000	0.74099	GGG		0.597	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	0	NM_018463		12:2929350
FAM13C	220965	broad.mit.edu	37	10	61028449	61028449	+	Missense_Mutation	SNP	G	G	A	rs138913406	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:61028449G>A	ENST00000373868.2	-	8	893	c.806C>T	c.(805-807)cCg>cTg	p.P269L	FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P186L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	269										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAACTCCGCGGCCTGCAGTG	0.493													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17659	0.0		0.0	False		,,,				2504	0.0					ENST00000373867.3		NA																	0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(556-558)cCg>cTg		family with sequence similarity 13, member C		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	41.0	39.0	40.0		806,557,557,806	6.0	1.0	10	dbSNP_134	40	0,8600		0,0,4300	yes	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	98,98,98,98	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign,benign,benign,benign	269/488,186/503,186/502,269/586	61028449	7,12999	2203	4300	6503	SO:0001583	missense	220965							g.chr10:61028449G>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.806C>T	10.37:g.61028449G>A	ENSP00000362975:p.Pro269Leu	False	False		Somatic	0				FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000373868.2_Missense_Mutation_p.P269L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L	p.P186L	NM_001166698.1	NP_001160170.1	WXS	Illumina HiSeq	Phase_I	Q8NE31	FA13C_HUMAN			9	1022	-			269					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.557C>T	CCDS7255.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.53	2.563159	0.45694	0.001589	0.0	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;0.9;-0.96;-0.96;-0.96;-0.96	6.04	6.04	0.98038	.	0.142017	0.49916	N	0.000133	T	0.77618	0.4157	L	0.39147	1.195	0.80722	D	1	P;B;B;D;B	0.67145	0.487;0.018;0.296;0.996;0.347	B;B;B;P;B	0.53861	0.13;0.018;0.087;0.736;0.083	T	0.72347	-0.4321	10	0.27082	T	0.32	-3.6719	20.5891	0.99427	0.0:0.0:1.0:0.0	.	269;186;269;269;269	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	186;269;290;290;269;186;269;269;47	ENSP00000362974:P186L;ENSP00000362975:P269L;ENSP00000395661:P290L;ENSP00000277705:P290L;ENSP00000391993:P269L;ENSP00000423896:P186L;ENSP00000392302:P269L;ENSP00000400241:P269L;ENSP00000445068:P47L	ENSP00000277705:P290L	P	-	2	0	FAM13C	60698455	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	3.913000	0.56394	2.876000	0.98609	0.650000	0.86243	CCG		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2	0			10:61028449
BMP3	651	broad.mit.edu	37	4	81967241	81967241	+	Silent	SNP	G	G	A	rs370315521		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:81967241G>A	ENST00000282701.2	+	2	986	c.666G>A	c.(664-666)acG>acA	p.T222T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	222			T -> M (in dbSNP:rs34505126).		cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTAACATTACGTCCAAGGGAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20604	0.0		0.001	False		,,,				2504	0.0					ENST00000282701.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(664-666)acG>acA		bone morphogenetic protein 3		G		0,4406		0,0,2203	117.0	125.0	122.0		666	-2.1	0.2	4		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP3	NM_001201.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		222/473	81967241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967241G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.666G>A	4.37:g.81967241G>A		False	False		Somatic	0					p.T222T	NM_001201.2	NP_001192.2	WXS	Illumina HiSeq	Phase_I	P12645	BMP3_HUMAN			2	986	+			222		T -> M (in dbSNP:rs34505126).			Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.666G>A	CCDS3588.1																																																																																				0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1	0			4:81967241
C15orf59	388135	broad.mit.edu	37	15	74032307	74032307	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:74032307G>A	ENST00000569673.1	-	3	2037	c.833C>T	c.(832-834)aCg>aTg	p.T278M	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	278										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCAGAACCGTCTGCGTGCT	0.592																																						ENST00000569673.1		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(832-834)aCg>aTg		chromosome 15 open reading frame 59							101.0	108.0	106.0					15																	74032307		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032307G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.833C>T	15.37:g.74032307G>A	ENSP00000457205:p.Thr278Met	False	False		Somatic	0				C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M	p.T278M			WXS	Illumina HiSeq	Phase_I	Q2T9L4	CO059_HUMAN			3	2037	-			278						Missense_Mutation	SNP	ENST00000569673.1	37	c.833C>T	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338827	0.81911	.	.	ENSG00000205363	ENST00000379822	T	0.68903	-0.36	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	278	Q2T9L4	CO059_HUMAN	M	278	ENSP00000369150:T278M	ENSP00000369150:T278M	T	-	2	0	C15orf59	71819360	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.060000	0.93907	2.354000	0.79902	0.561000	0.74099	ACG		0.592	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	0	NM_001039614		15:74032307
TTI1	9675	broad.mit.edu	37	20	36640671	36640671	+	Silent	SNP	C	C	T	rs544143684		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:36640671C>T	ENST00000373448.2	-	3	1786	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.V516V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	516					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.V516V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCGGTAAACCACAGATTGAT	0.423																																						ENST00000373448.2		NA																	1	Substitution - coding silent(1)	p.V516V(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1546-1548)gtG>gtA		TELO2 interacting protein 1							52.0	55.0	54.0					20																	36640671		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36640671C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1548G>A	20.37:g.36640671C>T		False	False		Somatic	0				TTI1_ENST00000373447.3_Silent_p.V516V|TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000487362.1_Intron	p.V516V	NM_014657.1	NP_055472.1	WXS	Illumina HiSeq	Phase_I	O43156	TTI1_HUMAN			3	1786	-			516					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1548G>A	CCDS13300.1																																																																																				0.423	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	0	NM_014657		20:36640671
FOXP2	93986	broad.mit.edu	37	7	114294032	114294032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:114294032C>T	ENST00000393494.2	+	10	1513	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000393500.3_Nonsense_Mutation_p.R337*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.R436*|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R429*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R391*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R437*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.R320*			O15409	FOXP2_HUMAN	forkhead box P2	412					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTTGCACATGCGACCCTCAGA	0.398																																						ENST00000393500.3		NA																	0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1009-1011)Cga>Tga		forkhead box P2							186.0	172.0	176.0					7																	114294032		2203	4300	6503	SO:0001587	stop_gained	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114294032C>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1234C>T	7.37:g.114294032C>T	ENSP00000377132:p.Arg412*	False	False		Somatic	0				FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.R436*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R391*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R437*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R429*	p.R337*			WXS	Illumina HiSeq	Phase_I	O15409	FOXP2_HUMAN			16	1829	+			412					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	c.1009C>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346324	0.95807	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	337;412;437;429;412;389;320;412;436;320	.	ENSP00000265436:R412X	R	+	1	2	FOXP2	114081268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.793000	0.55484	2.937000	0.99478	0.650000	0.86243	CGA		0.398	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	0	NM_014491		7:114294032
USP7	7874	broad.mit.edu	37	16	8988948	8988948	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:8988948C>T	ENST00000344836.4	-	28	3177	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	USP7_ENST00000535863.1_Silent_p.A894A|USP7_ENST00000381886.4_Silent_p.A977A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	993					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A993A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTGGAAATGCGCCACTGTGA	0.502																																						ENST00000344836.4		NA																	1	Substitution - coding silent(1)	p.A993A(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2977-2979)gcG>gcA		ubiquitin specific peptidase 7 (herpes virus-associated)							266.0	247.0	254.0					16																	8988948		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988948C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2979G>A	16.37:g.8988948C>T		False	False		Somatic	0				USP7_ENST00000535863.1_Silent_p.A894A|USP7_ENST00000381886.4_Silent_p.A977A	p.A993A	NM_003470.2	NP_003461.2	WXS	Illumina HiSeq	Phase_I	Q93009	UBP7_HUMAN			28	3177	-			993					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2979G>A	CCDS32385.1																																																																																				0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	0			16:8988948
CSMD1	64478	broad.mit.edu	37	8	2820823	2820823	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:2820823G>A	ENST00000520002.1	-	61	9933	c.9378C>T	c.(9376-9378)gaC>gaT	p.D3126D	CSMD1_ENST00000602557.1_Silent_p.D3126D|CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000602723.1_Silent_p.D2949D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3126	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGTAACCGTCCATGCAGC	0.562																																						ENST00000602557.1		NA																	0				breast(20)|large_intestine(5)	25						c.(9376-9378)gaC>gaT		CUB and Sushi multiple domains 1							107.0	116.0	113.0					8																	2820823		1971	4163	6134	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820823G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9378C>T	8.37:g.2820823G>A		False	False		Somatic	0				CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000520002.1_Silent_p.D3126D|CSMD1_ENST00000537824.1_Silent_p.D3125D	p.D3126D			WXS	Illumina HiSeq	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9933	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3126			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9378C>T		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004364	0.02112	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.69	-2.77	0.05877	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	0.4751	0.00538	0.3679:0.2388:0.1773:0.216	.	.	.	.	W	2543	.	.	R	-	1	2	CSMD1	2808230	0.000000	0.05858	0.047000	0.18901	0.110000	0.19582	-1.200000	0.03029	-0.162000	0.10964	-0.136000	0.14681	CGG		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	NM_033225		8:2820823
PCDHGA10	56106	broad.mit.edu	37	5	140794655	140794655	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:140794655A>G	ENST00000398610.2	+	1	1913	c.1913A>G	c.(1912-1914)gAc>gGc	p.D638G	PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCTGGACAGAGACGCG	0.701																																						ENST00000398610.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1912-1914)gAc>gGc									49.0	59.0	56.0					5																	140794655		2203	4295	6498	SO:0001583	missense	0							g.chr5:140794655A>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1913A>G	5.37:g.140794655A>G	ENSP00000381611:p.Asp638Gly	False	False		Somatic	0				PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.D638G	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1913	+			NA					Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1913A>G	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	a	17.83	3.486542	0.63962	.	.	ENSG00000253846	ENST00000398610	T	0.65178	-0.14	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75882	0.3910	M	0.64404	1.975	0.31302	N	0.688228	D;D	0.59767	0.973;0.986	P;D	0.65573	0.786;0.936	T	0.78705	-0.2100	9	0.72032	D	0.01	.	15.1502	0.72692	1.0:0.0:0.0:0.0	.	638;638	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	G	638	ENSP00000381611:D638G	ENSP00000381611:D638G	D	+	2	0	PCDHGA10	140774839	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.721000	0.61951	2.061000	0.61500	0.454000	0.30748	GAC		0.701	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	0	NM_018913		5:140794655
CCDC87	55231	broad.mit.edu	37	11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A	rs201943750		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGCCTCAGGCGGGCTTTGGAG	0.557																																						ENST00000333861.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2128-2130)Cgc>Tgc		coiled-coil domain containing 87		G	CYS/ARG	0,4400		0,0,2200	57.0	62.0	60.0		2128	4.1	0.3	11		60	4,8584		0,4,4290	yes	missense	CCDC87	NM_018219.2	180	0,4,6490	AA,AG,GG		0.0466,0.0,0.0308	probably-damaging	710/850	66358359	4,12984	2200	4294	6494	SO:0001583	missense	55231							g.chr11:66358359G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2128C>T	11.37:g.66358359G>A	ENSP00000328487:p.Arg710Cys	True	False		Somatic	0					p.R710C	NM_018219.2	NP_060689.2	WXS	Illumina HiSeq	Phase_I	Q9NVE4	CCD87_HUMAN			1	2195	-			710					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2128C>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929265	0.34096	0.0	4.66E-4	ENSG00000182791	ENST00000333861	T	0.34072	1.38	5.07	4.14	0.48551	.	0.000000	0.43919	D	0.000515	T	0.55673	0.1935	M	0.70595	2.14	0.38943	D	0.958188	D	0.89917	1.0	D	0.70935	0.971	T	0.61113	-0.7128	10	0.56958	D	0.05	-9.6332	11.2898	0.49244	0.0:0.1836:0.8164:0.0	.	710	Q9NVE4	CCD87_HUMAN	C	710	ENSP00000328487:R710C	ENSP00000328487:R710C	R	-	1	0	CCDC87	66114935	0.866000	0.29940	0.252000	0.24328	0.123000	0.20343	1.200000	0.32247	1.327000	0.45338	0.561000	0.74099	CGC		0.557	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	0	NM_018219		11:66358359
DNAH2	146754	broad.mit.edu	37	17	7708672	7708672	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708672G>C	ENST00000572933.1	+	61	10863	c.9403G>C	c.(9403-9405)Ggc>Cgc	p.G3135R	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3135	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATTCTTCGAGGCAACGAGCC	0.502																																						ENST00000572933.1		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9403-9405)Ggc>Cgc		dynein, axonemal, heavy chain 2							97.0	93.0	94.0					17																	7708672		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708672G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9403G>C	17.37:g.7708672G>C	ENSP00000458355:p.Gly3135Arg	False	False		Somatic	0				DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R	p.G3135R			WXS	Illumina HiSeq	Phase_I	Q9P225	DYH2_HUMAN			61	10863	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3135			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9403G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014629	0.75161	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.83163	-1.69	5.62	5.62	0.85841	Dynein heavy chain, coiled coil stalk (1);	0.056220	0.64402	D	0.000001	D	0.86104	0.5853	M	0.83774	2.66	0.80722	D	1	B;B	0.32324	0.314;0.364	B;B	0.35240	0.198;0.188	D	0.85682	0.1301	10	0.51188	T	0.08	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	3096;3135	Q9P225-2;Q9P225	.;DYH2_HUMAN	R	3096;3135	ENSP00000373825:G3135R	ENSP00000353818:G3096R	G	+	1	0	DNAH2	7649397	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.688000	0.74557	2.652000	0.90054	0.655000	0.94253	GGC		0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	NM_020877		17:7708672
CTC1	80169	broad.mit.edu	37	17	8138120	8138120	+	Missense_Mutation	SNP	G	G	A	rs199698527		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:8138120G>A	ENST00000315684.8	-	9	1571	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	522					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGTGCATTCCGAACAGGGCTG	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19263	0.0		0.0	False		,,,				2504	0.0					ENST00000315684.8		NA																	0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1564-1566)Cgg>Tgg		CTS telomere maintenance complex component 1			TRP/ARG	9,3983		0,9,1987	98.0	100.0	99.0		1564	5.2	0.1	17		99	0,8312		0,0,4156	yes	missense	CTC1	NM_025099.5	101	0,9,6143	AA,AG,GG		0.0,0.2255,0.0731	probably-damaging	522/1218	8138120	9,12295	1996	4156	6152	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138120G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1564C>T	17.37:g.8138120G>A	ENSP00000313759:p.Arg522Trp	False	False		Somatic	0					p.R522W	NM_025099.5	NP_079375.3	WXS	Illumina HiSeq	Phase_I	Q2NKJ3	CTC1_HUMAN			9	1571	-			522					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1564C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753873	0.31046	0.002255	0.0	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.91792	-2.91;-2.91	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.71581	2.175	0.43494	D	0.995737	D	0.89917	1.0	D	0.91635	0.999	D	0.95629	0.8688	10	0.87932	D	0	-22.3791	14.2593	0.66073	0.0:0.0:1.0:0.0	.	522	Q2NKJ3	CTC1_HUMAN	W	522;487	ENSP00000313759:R522W;ENSP00000396018:R487W	ENSP00000313759:R522W	R	-	1	2	CTC1	8078845	0.730000	0.28100	0.130000	0.21974	0.123000	0.20343	1.428000	0.34892	2.459000	0.83118	0.598000	0.82781	CGG		0.577	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	0	NM_025099		17:8138120
C9orf24	84688	broad.mit.edu	37	9	34381380	34381380	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:34381380C>T	ENST00000297623.2	-	4	657	c.459G>A	c.(457-459)cgG>cgA	p.R153R	C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	153					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGGCATTGAGCCGCTCCGGCC	0.612																																						ENST00000297623.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(457-459)cgG>cgA		chromosome 9 open reading frame 24							148.0	131.0	137.0					9																	34381380		2203	4300	6503	SO:0001819	synonymous_variant	84688							g.chr9:34381380C>T	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.459G>A	9.37:g.34381380C>T		False	False		Somatic	0				C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R	p.R153R	NM_032596.3	NP_115985.2	WXS	Illumina HiSeq	Phase_I	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	657	-			153					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	37	c.459G>A	CCDS6554.1																																																																																				0.612	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	0	NM_147169		9:34381380
MELK	9833	broad.mit.edu	37	9	36589550	36589550	+	Silent	SNP	C	C	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:36589550C>A	ENST00000298048.2	+	4	346	c.162C>A	c.(160-162)atC>atA	p.I54I	MELK_ENST00000545008.1_Silent_p.I54I|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000541717.1_Silent_p.I54I|MELK_ENST00000536329.1_Intron|MELK_ENST00000543751.1_Silent_p.I22I|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000536860.1_Silent_p.I54I|MELK_ENST00000487398.1_3'UTR	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCCCCGGATCAAAACGGAGA	0.403																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1		NA																	0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(64-66)atC>atA		maternal embryonic leucine zipper kinase							172.0	156.0	161.0					9																	36589550		2203	4300	6503	SO:0001819	synonymous_variant	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36589550C>A	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.162C>A	9.37:g.36589550C>A		True	False		Somatic	0				MELK_ENST00000541717.1_Silent_p.I54I|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000298048.2_Silent_p.I54I|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000545008.1_Silent_p.I54I|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000536860.1_Silent_p.I54I	p.I22I	NM_001256689.1	NP_001243618.1	WXS	Illumina HiSeq	Phase_I	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	211	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	54			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	c.66C>A	CCDS6606.1																																																																																				0.403	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	0	NM_014791		9:36589550
HMGB3	3149	broad.mit.edu	37	X	150156378	150156378	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463																																						ENST00000325307.7		NA																	0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(592-594)gaG>gaT		high mobility group box 3							49.0	48.0	49.0					X																	150156378		2203	4299	6502	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156378G>T	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp	True	False		Somatic	0				HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	p.E198D	NM_005342.2	NP_005333.2	WXS	Illumina HiSeq	Phase_I	O15347	HMGB3_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.594G>T	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG		0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	0	NM_005342		X:150156378
MOSPD3	64598	broad.mit.edu	37	7	100211247	100211247	+	Silent	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100211247G>A	ENST00000393950.2	+	3	711	c.429G>A	c.(427-429)gaG>gaA	p.E143E	MOSPD3_ENST00000424091.2_Silent_p.E133E|MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000379527.2_Silent_p.E143E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	143	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCCCCTTGAGCTTCAGGGAC	0.637																																						ENST00000393950.2		NA																	0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(427-429)gaG>gaA		motile sperm domain containing 3							57.0	54.0	55.0					7																	100211247		2203	4300	6503	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100211247G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.429G>A	7.37:g.100211247G>A		False	False		Somatic	0				MOSPD3_ENST00000424091.2_Silent_p.E133E|MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000379527.2_Silent_p.E143E	p.E143E	NM_023948.4	NP_076438.1	WXS	Illumina HiSeq	Phase_I	O75425	MSPD3_HUMAN			3	711	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		143			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.429G>A	CCDS5701.1																																																																																				0.637	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	0	NM_023948		7:100211247
C4orf50	389197	broad.mit.edu	37	4	5969155	5969155	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:5969155G>A	ENST00000324058.5	-	5	532	c.443C>T	c.(442-444)aCg>aTg	p.T148M	C4orf50_ENST00000531445.1_Missense_Mutation_p.T622M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	148										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TAAAGCTGCCGTCATCTCAGA	0.532																																						ENST00000531445.1		NA																	0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1864-1866)aCg>aTg		chromosome 4 open reading frame 50							147.0	128.0	135.0					4																	5969155		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5969155G>A	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.443C>T	4.37:g.5969155G>A	ENSP00000317287:p.Thr148Met	False	False		Somatic	0				C4orf50_ENST00000324058.5_Missense_Mutation_p.T148M	p.T622M			WXS	Illumina HiSeq	Phase_I	Q6ZRC1	CD050_HUMAN			5	1911	-			148						Missense_Mutation	SNP	ENST00000324058.5	37	c.1865C>T		.	.	.	.	.	.	.	.	.	.	G	13.64	2.296676	0.40594	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27720	1.65;1.65	2.99	2.99	0.34606	.	0.665167	0.13125	N	0.411927	T	0.47340	0.1440	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.17289	-1.0374	10	0.72032	D	0.01	-2.3166	9.7214	0.40306	0.0:0.0:1.0:0.0	.	148	Q6ZRC1	CD050_HUMAN	M	622;148	ENSP00000437121:T622M;ENSP00000317287:T148M	ENSP00000317287:T148M	T	-	2	0	C4orf50	6020056	0.002000	0.14202	0.003000	0.11579	0.140000	0.21249	1.108000	0.31123	1.992000	0.58205	0.655000	0.94253	ACG		0.532	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_207405		4:5969155
KIRREL	55243	broad.mit.edu	37	1	158063228	158063228	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:158063228G>A	ENST00000359209.6	+	12	1638	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KIRREL_ENST00000392272.2_Missense_Mutation_p.R421H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R424H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R360H|KIRREL_ENST00000368172.1_Missense_Mutation_p.R338H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R540H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	524					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACCGGCGCCGCAAAGGCAGT	0.607																																						ENST00000368172.1		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1012-1014)cGc>cAc		kin of IRRE like (Drosophila)							113.0	111.0	112.0					1																	158063228		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158063228G>A	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1571G>A	1.37:g.158063228G>A	ENSP00000352138:p.Arg524His	False	False		Somatic	0				KIRREL_ENST00000368173.3_Missense_Mutation_p.R540H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R421H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R424H|KIRREL_ENST00000359209.6_Missense_Mutation_p.R524H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R360H	p.R338H			WXS	Illumina HiSeq	Phase_I	Q96J84	KIRR1_HUMAN			8	1025	+	all_hematologic(112;0.0378)		524			Ig-like C2-type 4.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1013G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549450	0.86127	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71698	0.36;-0.59;0.02;-0.23;-0.12;0.22	5.61	4.67	0.58626	.	0.000000	0.43260	D	0.000589	T	0.71333	0.3327	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.964;0.998;0.996;0.996	T	0.74999	-0.3472	10	0.52906	T	0.07	-22.3545	14.06	0.64793	0.0:0.1523:0.8477:0.0	.	424;360;338;524	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	360;540;421;524;424;338	ENSP00000353202:R360H;ENSP00000357155:R540H;ENSP00000376098:R421H;ENSP00000352138:R524H;ENSP00000389674:R424H;ENSP00000357154:R338H	ENSP00000352138:R524H	R	+	2	0	KIRREL	156329852	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.163000	0.94750	1.303000	0.44873	0.491000	0.48974	CGC		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	0	NM_018240		1:158063228
CELF5	60680	broad.mit.edu	37	19	3290280	3290280	+	Missense_Mutation	SNP	A	A	G			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:3290280A>G	ENST00000292672.2	+	11	1275	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CELF5_ENST00000541430.2_Silent_p.R374R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	413	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GAGTTTGGAGACACGGAGCTG	0.542																																						ENST00000292672.2		NA																	0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(1237-1239)gAc>gGc		CUGBP, Elav-like family member 5							99.0	87.0	91.0					19																	3290280		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3290280A>G	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1238A>G	19.37:g.3290280A>G	ENSP00000292672:p.Asp413Gly	False	False		Somatic	0				CELF5_ENST00000541430.2_Silent_p.R374R	p.D413G	NM_021938.3	NP_068757.2	WXS	Illumina HiSeq	Phase_I	Q8N6W0	CELF5_HUMAN			11	1275	+			413			RRM 3.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.1238A>G	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355769	0.82243	.	.	ENSG00000161082	ENST00000292672	T	0.17370	2.28	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52419	-0.8578	10	0.87932	D	0	-20.3383	12.6476	0.56744	1.0:0.0:0.0:0.0	.	413	Q8N6W0	CELF5_HUMAN	G	413	ENSP00000292672:D413G	ENSP00000292672:D413G	D	+	2	0	CELF5	3241280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.258000	0.95555	1.731000	0.51592	0.443000	0.29094	GAC		0.542	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	0	NM_021938		19:3290280
MTUS2	23281	broad.mit.edu	37	13	29600312	29600312	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:29600312C>T	ENST00000431530.3	+	1	1565	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAAAGTGGCCGCTCAGAAGC	0.502																																						ENST00000431530.3		NA																	0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1507-1509)Cgc>Tgc		microtubule associated tumor suppressor candidate 2							79.0	84.0	83.0					13																	29600312		1973	4142	6115	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600312C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1507C>T	13.37:g.29600312C>T	ENSP00000392057:p.Arg503Cys	False	False		Somatic	0					p.R503C	NM_001033602.2	NP_001028774.2	WXS	Illumina HiSeq	Phase_I	Q5JR59	MTUS2_HUMAN			1	1565	+			493					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1507C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130528	0.37630	.	.	ENSG00000132938	ENST00000431530	T	0.12039	2.72	5.92	-8.99	0.00751	.	1.333950	0.04700	N	0.415575	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	9	.	.	.	.	5.915	0.19050	0.1411:0.5246:0.2381:0.0962	.	493	Q5JR59	MTUS2_HUMAN	C	503	ENSP00000392057:R503C	.	R	+	1	0	MTUS2	28498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.104000	0.10923	-0.703000	0.05049	-1.283000	0.01379	CGC		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	0	XM_166270		13:29600312
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_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	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_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)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(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.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>A	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.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	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)		2	226	-	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)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
HCRTR2	3062	broad.mit.edu	37	6	55039393	55039393	+	Missense_Mutation	SNP	G	G	A	rs201743993		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:55039393G>A	ENST00000370862.3	+	1	344	c.8G>A	c.(7-9)gGc>gAc	p.G3D		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	3					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGATGTCCGGCACCAAATTG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15589	0.0		0.0	False		,,,				2504	0.0					ENST00000370862.3		NA																	0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(7-9)gGc>gAc		hypocretin (orexin) receptor 2							85.0	81.0	83.0					6																	55039393		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039393G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.8G>A	6.37:g.55039393G>A	ENSP00000359899:p.Gly3Asp	False	False		Somatic	0					p.G3D	NM_001526.3	NP_001517.2	WXS	Illumina HiSeq	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	344	+	Lung NSC(77;0.107)|Renal(3;0.122)		3					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.8G>A	CCDS4956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.10	3.026954	0.54683	.	.	ENSG00000137252	ENST00000370862	T	0.61392	0.11	4.99	4.99	0.66335	.	0.057491	0.64402	D	0.000002	T	0.35740	0.0942	L	0.47716	1.5	0.42876	D	0.994151	P	0.41313	0.745	B	0.31290	0.127	T	0.51076	-0.8751	10	0.72032	D	0.01	.	14.9164	0.70801	0.0:0.1435:0.8565:0.0	.	3	O43614	OX2R_HUMAN	D	3	ENSP00000359899:G3D	ENSP00000359899:G3D	G	+	2	0	HCRTR2	55147352	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.046000	0.49846	2.599000	0.87857	0.563000	0.77884	GGC		0.577	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1	0			6:55039393
FMNL3	91010	broad.mit.edu	37	12	50047068	50047068	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:50047068G>A	ENST00000293590.5	-	13	1497	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	FMNL3_ENST00000335154.5_Missense_Mutation_p.R422W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W			Q8IVF7	FMNL3_HUMAN	formin-like 3	422	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCTGCCACCCGCATCATGTTT	0.542																																						ENST00000335154.5		NA																	0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1264-1266)Cgg>Tgg		formin-like 3							180.0	183.0	182.0					12																	50047068		1987	4166	6153	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50047068G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1264C>T	12.37:g.50047068G>A	ENSP00000293590:p.Arg422Trp	True	False		Somatic	0				FMNL3_ENST00000293590.5_Missense_Mutation_p.R422W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W	p.R422W	NM_175736.4	NP_783863.4	WXS	Illumina HiSeq	Phase_I	Q8IVF7	FMNL3_HUMAN			13	1497	-			422			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1264C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.267087	0.80469	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.58	3.58	0.41010	.	0.113971	0.56097	D	0.000029	T	0.49081	0.1536	M	0.63843	1.955	0.46437	D	0.999047	D;D	0.89917	0.987;1.0	P;D	0.70016	0.534;0.967	T	0.52208	-0.8606	10	0.87932	D	0	.	11.3304	0.49473	0.0:0.1371:0.7209:0.142	.	371;422	Q8IVF7-2;Q8IVF7-3	.;.	W	422;422;371;422	ENSP00000335655:R422W;ENSP00000447479:R422W;ENSP00000344311:R371W;ENSP00000293590:R422W	ENSP00000293590:R422W	R	-	1	2	FMNL3	48333335	0.345000	0.24835	1.000000	0.80357	0.998000	0.95712	1.072000	0.30678	1.455000	0.47813	0.655000	0.94253	CGG		0.542	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_175736		12:50047068
ELOVL4	6785	broad.mit.edu	37	6	80635984	80635984	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:80635984G>T	ENST00000369816.4	-	2	515	c.215C>A	c.(214-216)cCt>cAt	p.P72H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	72					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CATCTGAAAAGGTTCTCGGTC	0.393																																						ENST00000369816.4		NA																	0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(214-216)cCt>cAt		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						89.0	77.0	81.0					6																	80635984		2203	4300	6503	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80635984G>T	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.215C>A	6.37:g.80635984G>T	ENSP00000358831:p.Pro72His	True	False		Somatic	0					p.P72H	NM_022726.3	NP_073563.1	WXS	Illumina HiSeq	Phase_I	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	2	515	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	72					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.215C>A	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983967	0.93044	.	.	ENSG00000118402	ENST00000369816	T	0.26810	1.71	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78841	-0.2045	10	0.87932	D	0	-9.8818	19.1531	0.93496	0.0:0.0:1.0:0.0	.	72	Q9GZR5	ELOV4_HUMAN	H	72	ENSP00000358831:P72H	ENSP00000358831:P72H	P	-	2	0	ELOVL4	80692703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.753000	0.94483	0.655000	0.94253	CCT		0.393	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1	0			6:80635984
TFDP1	7027	broad.mit.edu	37	13	114265370	114265370	+	Silent	SNP	C	C	T	rs144432965	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:114265370C>T	ENST00000375370.5	+	3	284	c.72C>T	c.(70-72)ccC>ccT	p.P24P	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000544902.1_5'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACCTTAGTCCCGGGAAAGGTA	0.443										TSP Lung(29;0.18)																												ENST00000375370.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(70-72)ccC>ccT		transcription factor Dp-1		C		1,4405	2.1+/-5.4	0,1,2202	155.0	145.0	148.0		72	1.7	1.0	13	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		24/411	114265370	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114265370C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.72C>T	13.37:g.114265370C>T		True	False	TSP Lung(29;0.18)	Somatic	0				TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR	p.P24P	NM_007111.4	NP_009042.1	WXS	Illumina HiSeq	Phase_I	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		3	284	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	24					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.72C>T	CCDS9538.1																																																																																				0.443	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	0	NM_007111		13:114265370
HERC6	55008	broad.mit.edu	37	4	89334269	89334269	+	Missense_Mutation	SNP	C	C	A	rs528652638		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:89334269C>A	ENST00000264346.7	+	12	1468	c.1409C>A	c.(1408-1410)cCa>cAa	p.P470Q	HERC6_ENST00000380265.5_Missense_Mutation_p.P470Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	470					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAGCTCTTCCATGCCATTCT	0.448																																						ENST00000380265.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1408-1410)cCa>cAa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							248.0	241.0	243.0					4																	89334269		1958	4178	6136	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334269C>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1409C>A	4.37:g.89334269C>A	ENSP00000264346:p.Pro470Gln	False	False		Somatic	0				HERC6_ENST00000264346.7_Missense_Mutation_p.P470Q	p.P470Q	NM_001165136.1	NP_001158608.1	WXS	Illumina HiSeq	Phase_I	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1592	+		Hepatocellular(203;0.114)	470					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1409C>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271412	0.80469	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.38240	1.15;1.16	4.76	2.94	0.34122	.	0.433846	0.21414	N	0.074931	T	0.49047	0.1534	M	0.72894	2.215	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.65987	0.94;0.873	T	0.45804	-0.9236	10	0.19147	T	0.46	.	6.9105	0.24333	0.1722:0.7356:0.0:0.0922	.	470;470	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Q	470	ENSP00000369617:P470Q;ENSP00000264346:P470Q	ENSP00000264346:P470Q	P	+	2	0	HERC6	89553292	0.942000	0.31987	0.621000	0.29145	0.856000	0.48823	2.288000	0.43514	1.214000	0.43395	0.585000	0.79938	CCA		0.448	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2	0			4:89334269
DNAH2	146754	broad.mit.edu	37	17	7708641	7708641	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708641G>C	ENST00000572933.1	+	61	10832	c.9372G>C	c.(9370-9372)gaG>gaC	p.E3124D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3124	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCAAGTGGAGATAGTGATGC	0.507																																						ENST00000572933.1		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9370-9372)gaG>gaC		dynein, axonemal, heavy chain 2							110.0	106.0	107.0					17																	7708641		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708641G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9372G>C	17.37:g.7708641G>C	ENSP00000458355:p.Glu3124Asp	False	False		Somatic	0				DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D	p.E3124D			WXS	Illumina HiSeq	Phase_I	Q9P225	DYH2_HUMAN			61	10832	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3124			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9372G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918069	0.73098	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	5.62	2.09	0.27110	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.43757	1.38	0.80722	D	1	P;P	0.40660	0.48;0.726	B;P	0.51297	0.413;0.665	T	0.42155	-0.9468	10	0.25751	T	0.34	.	10.78	0.46371	0.2594:0.0:0.7406:0.0	.	3085;3124	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3085;3124	ENSP00000373825:E3124D	ENSP00000353818:E3085D	E	+	3	2	DNAH2	7649366	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.613000	0.36900	0.724000	0.32296	0.655000	0.94253	GAG		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	NM_020877		17:7708641
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A	rs370636108		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:248685648G>A	ENST00000343414.4	+	1	733	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473																																						ENST00000343414.4		NA																	0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(700-702)cGc>cAc		olfactory receptor, family 2, subfamily G, member 6		G	HIS/ARG	0,4406		0,0,2203	101.0	104.0	103.0		701	2.9	0.0	1		103	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	234/317	248685648	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685648G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.701G>A	1.37:g.248685648G>A	ENSP00000341291:p.Arg234His	False	False		Somatic	0					p.R234H	NM_001013355.1	NP_001013373.1	WXS	Illumina HiSeq	Phase_I	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	733	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	234					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.701G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.29	1.596315	0.28445	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00333	8.07	3.83	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	U	0.000372	T	0.00875	0.0029	M	0.91872	3.25	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.19128	-1.0315	10	0.87932	D	0	.	10.4637	0.44594	0.1003:0.0:0.8997:0.0	.	234	Q5TZ20	OR2G6_HUMAN	H	234	ENSP00000341291:R234H	ENSP00000341291:R234H	R	+	2	0	OR2G6	246752271	0.012000	0.17670	0.001000	0.08648	0.108000	0.19459	1.615000	0.36922	0.810000	0.34279	0.400000	0.26472	CGC		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	0	XM_372842		1:248685648
SMARCAD1	56916	broad.mit.edu	37	4	95198287	95198287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:95198287C>T	ENST00000354268.4	+	16	2132	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R257*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	687					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGTGAAATACGAAGAATGTT	0.378																																						ENST00000354268.4		NA																	0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2059-2061)Cga>Tga		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							171.0	166.0	168.0					4																	95198287		2203	4300	6503	SO:0001587	stop_gained	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95198287C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2059C>T	4.37:g.95198287C>T	ENSP00000346217:p.Arg687*	False	False		Somatic	0				SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R257*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*	p.R687*			WXS	Illumina HiSeq	Phase_I	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	16	2132	+			687					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.2059C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	37	6.495917	0.97612	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.52	4.6	0.57074	.	0.000000	0.38381	N	0.001702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.8402	15.1831	0.72975	0.2325:0.7675:0.0:0.0	.	.	.	.	X	687;687;687;257	.	ENSP00000346217:R687X	R	+	1	2	SMARCAD1	95417310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.153000	0.42282	2.604000	0.88044	0.555000	0.69702	CGA		0.378	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	0	NM_020159		4:95198287
CLTCL1	8218	broad.mit.edu	37	22	19209057	19209057	+	Missense_Mutation	SNP	G	G	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:19209057G>T	ENST00000263200.10	-	17	2711	c.2639C>A	c.(2638-2640)gCt>gAt	p.A880D	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	880	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GTAGATTTTAGCCAGTGCATT	0.547			T	?	ALCL																																	ENST00000263200.10		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2638-2640)gCt>gAt		clathrin, heavy chain-like 1							32.0	32.0	32.0					22																	19209057		2080	4247	6327	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19209057G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2639C>A	22.37:g.19209057G>T	ENSP00000445677:p.Ala880Asp	False	False		Somatic	0				CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D	p.A880D	NM_007098.3	NP_009029.3	WXS	Illumina HiSeq	Phase_I	P53675	CLH2_HUMAN			17	2711	-	Colorectal(54;0.0993)		880			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2639C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083901	0.55861	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23552	1.9;1.9;1.9	3.63	3.63	0.41609	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.072624	0.53938	D	0.000042	T	0.60919	0.2306	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	T	0.74902	-0.3506	10	0.87932	D	0	-3.9812	15.456	0.75314	0.0:0.0:1.0:0.0	.	880;880	P53675-2;P53675	.;CLH2_HUMAN	D	880	ENSP00000439662:A880D;ENSP00000445677:A880D;ENSP00000441158:A880D	ENSP00000445677:A880D	A	-	2	0	CLTCL1	17589057	1.000000	0.71417	0.968000	0.41197	0.008000	0.06430	8.761000	0.91691	1.880000	0.54463	0.462000	0.41574	GCT		0.547	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	0	NM_007098		22:19209057
SLCO5A1	81796	broad.mit.edu	37	8	70744099	70744099	+	Silent	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:70744099C>T	ENST00000260126.4	-	2	1516	c.810G>A	c.(808-810)gcG>gcA	p.A270A	SLCO5A1_ENST00000530307.1_Silent_p.A270A|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A270A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGAATCTGCGCGCAAATGA	0.502																																						ENST00000260126.4		NA																	1	Substitution - coding silent(1)	p.A270A(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(808-810)gcG>gcA		solute carrier organic anion transporter family, member 5A1							104.0	105.0	105.0					8																	70744099		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744099C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.810G>A	8.37:g.70744099C>T		True	False		Somatic	0				SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A270A	p.A270A	NM_030958.2	NP_112220.2	WXS	Illumina HiSeq	Phase_I	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1516	-	Breast(64;0.0654)		NA					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.810G>A	CCDS6205.1																																																																																				0.502	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	NM_030958		8:70744099
TSKS	60385	broad.mit.edu	37	19	50243356	50243356	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:50243356G>A	ENST00000246801.3	-	10	1664	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	528					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCTTGGCCCGCAGGGCCTCG	0.627																																						ENST00000246801.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1582-1584)Cgg>Tgg		testis-specific serine kinase substrate							73.0	76.0	75.0					19																	50243356		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243356G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1582C>T	19.37:g.50243356G>A	ENSP00000246801:p.Arg528Trp	True	False		Somatic	0				TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	p.R528W	NM_021733.1	NP_068379.1	WXS	Illumina HiSeq	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1664	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	528					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1582C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454044	0.63290	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.49432	0.78;0.78	4.81	3.72	0.42706	.	0.287773	0.24566	N	0.037427	T	0.50309	0.1608	N	0.24115	0.695	0.32826	D	0.50336	D	0.89917	1.0	D	0.72338	0.977	T	0.59663	-0.7412	10	0.87932	D	0	-27.3869	9.3425	0.38089	0.0:0.0:0.7707:0.2293	.	528	Q9UJT2	TSKS_HUMAN	W	528;328	ENSP00000246801:R528W;ENSP00000351691:R328W	ENSP00000246801:R528W	R	-	1	2	TSKS	54935168	0.523000	0.26274	0.989000	0.46669	0.875000	0.50365	2.024000	0.41049	2.490000	0.84030	0.609000	0.83330	CGG		0.627	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	0	NM_021733		19:50243356
BTBD11	121551	broad.mit.edu	37	12	107937864	107937864	+	Missense_Mutation	SNP	G	G	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:107937864G>A	ENST00000280758.5	+	3	1966	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	480						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCACAAATGGAATGGGAAAA	0.582																																						ENST00000280758.5		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1438-1440)Gaa>Aaa		BTB (POZ) domain containing 11							68.0	60.0	63.0					12																	107937864		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107937864G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1438G>A	12.37:g.107937864G>A	ENSP00000280758:p.Glu480Lys	True	False		Somatic	0				BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K	p.E480K	NM_001018072.1	NP_001018082.1	WXS	Illumina HiSeq	Phase_I	A6QL63	BTBDB_HUMAN			3	1966	+			480					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1438G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356457	0.95854	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.74150	-0.3758	10	0.72032	D	0.01	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	480;480;480	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	480;480;480;111;114	ENSP00000280758:E480K;ENSP00000413889:E480K;ENSP00000447319:E480K;ENSP00000447606:E111K;ENSP00000407416:E114K	ENSP00000280758:E480K	E	+	1	0	BTBD11	106461994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	0	NM_152322		12:107937864
ITGB1BP1	9270	broad.mit.edu	37	2	9547660	9547660	+	Missense_Mutation	SNP	G	G	A	rs17850889	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:9547660G>A	ENST00000360635.3	-	7	1345	c.449C>T	c.(448-450)gCg>gTg	p.A150V	ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000238091.4_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	150	PID.			A -> V (in Ref. 4; AAH12264). {ECO:0000305}.	activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTTTTTCCCGCCCCCAGACC	0.483																																						ENST00000360635.3		NA																	0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(448-450)gCg>gTg		integrin beta 1 binding protein 1		G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	164.0	138.0	147.0		449,	5.6	1.0	2	dbSNP_123	147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	ITGB1BP1	NM_004763.3,NM_022334.3	64,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,	150/201,	9547660	3,13003	2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9547660G>A	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.449C>T	2.37:g.9547660G>A	ENSP00000353850:p.Ala150Val	True	False		Somatic	0				ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000490426.1_5'UTR	p.A150V			WXS	Illumina HiSeq	Phase_I	O14713	ITBP1_HUMAN		Epithelial(75;0.23)	7	1345	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		150	A -> V (in Ref. 4; AAH12264).		PID.		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.449C>T	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278080	0.95459	4.54E-4	1.16E-4	ENSG00000119185	ENST00000360635;ENST00000355346;ENST00000359712;ENST00000456913	.	.	.	5.61	5.61	0.85477	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	N	0.24115	0.695	0.80722	D	1	D;D;P	0.71674	0.998;0.99;0.944	P;P;P	0.55011	0.766;0.688;0.507	T	0.57159	-0.7859	9	0.36615	T	0.2	-23.8728	20.0086	0.97443	0.0:0.0:1.0:0.0	rs17850889	106;150;150	B4DQY5;A8MPU2;O14713	.;.;ITBP1_HUMAN	V	150	.	ENSP00000347504:A150V	A	-	2	0	ITGB1BP1	9465111	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	6.824000	0.75288	2.808000	0.96608	0.655000	0.94253	GCG		0.483	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	0	NM_004763, NM_022334		2:9547660
BCL9	607	broad.mit.edu	37	1	147084715	147084715	+	Silent	SNP	T	T	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGGTCCGTCCCCCTACAG	0.502			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(85-87)cgT>cgC		B-cell CLL/lymphoma 9							87.0	90.0	89.0					1																	147084715		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084715T>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.87T>C	1.37:g.147084715T>C		True	False		Somatic	0				BCL9_ENST00000473292.1_3'UTR	p.R29R	NM_004326.2	NP_004317.2	WXS	Illumina HiSeq	Phase_I	O00512	BCL9_HUMAN			5	827	+	all_hematologic(923;0.115)		29					Q5T489	Silent	SNP	ENST00000234739.3	37	c.87T>C	CCDS30833.1																																																																																				0.502	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	0	NM_004326		1:147084715
TENM1	10178	broad.mit.edu	37	X	123514928	123514928	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123514928C>T	ENST00000371130.3	-	31	7699	c.7636G>A	c.(7636-7638)Gat>Aat	p.D2546N	TENM1_ENST00000422452.2_Missense_Mutation_p.D2553N|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2546					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGCCTGCTATCTTCATTGGCT	0.433																																						ENST00000422452.2		NA																	0					NA						c.(7657-7659)Gat>Aat		teneurin transmembrane protein 1							75.0	71.0	73.0					X																	123514928		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514928C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7636G>A	X.37:g.123514928C>T	ENSP00000360171:p.Asp2546Asn	False	False		Somatic	0				TENM1_ENST00000371130.3_Missense_Mutation_p.D2546N|STAG2_ENST00000469481.1_Intron	p.D2553N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina HiSeq	Phase_I					32	7720	-			NA					B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7657G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266557	0.80358	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86366	-2.11;-2.07	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.989;0.996;0.998	D	0.93438	0.6791	10	0.56958	D	0.05	.	19.0991	0.93266	0.0:1.0:0.0:0.0	.	2552;2553;2546	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2546;2553	ENSP00000360171:D2546N;ENSP00000403954:D2553N	ENSP00000360171:D2546N	D	-	1	0	ODZ1	123342609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.460000	0.83146	0.600000	0.82982	GAT		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	0	NM_014253		X:123514928
DNAH2	146754	broad.mit.edu	37	17	7708357	7708357	+	Missense_Mutation	SNP	G	G	C			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708357G>C	ENST00000572933.1	+	60	10725	c.9265G>C	c.(9265-9267)Gaa>Caa	p.E3089Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3089	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAAGATCTAGAAGAGGCACT	0.582																																						ENST00000572933.1		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9265-9267)Gaa>Caa		dynein, axonemal, heavy chain 2							67.0	73.0	71.0					17																	7708357		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708357G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9265G>C	17.37:g.7708357G>C	ENSP00000458355:p.Glu3089Gln	False	False		Somatic	0				DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q	p.E3089Q			WXS	Illumina HiSeq	Phase_I	Q9P225	DYH2_HUMAN			60	10725	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3089			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9265G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782129	0.70222	.	.	ENSG00000183914	ENST00000389173	T	0.74209	-0.82	4.88	4.88	0.63580	Dynein heavy chain, coiled coil stalk (1);	0.057608	0.64402	D	0.000002	T	0.71117	0.3302	L	0.37800	1.135	0.80722	D	1	B	0.28258	0.205	B	0.39152	0.292	T	0.66221	-0.5978	10	0.24483	T	0.36	.	16.9512	0.86246	0.0:0.0:1.0:0.0	.	3089	Q9P225	DYH2_HUMAN	Q	3089	ENSP00000373825:E3089Q	ENSP00000373825:E3089Q	E	+	1	0	DNAH2	7649082	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.930000	0.75858	2.541000	0.85698	0.591000	0.81541	GAA		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	NM_020877		17:7708357
LOC643733	643733	broad.mit.edu	37	11	104774153	104774153	+	RNA	SNP	C	C	A			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:104774153C>A	ENST00000532510.1	-	0	3383																											TCATACACCACCAACAACTCT	0.403																																						ENST00000532510.1		NA																	0					NA																																														0							g.chr11:104774153C>A																													11.37:g.104774153C>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3383	-			NA						RNA	SNP	ENST00000532510.1	37																																																																																						0.403	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1	0			11:104774153
TTN	7273	broad.mit.edu	37	2	179410378	179410378	+	Missense_Mutation	SNP	C	C	T			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:179410378C>T	ENST00000591111.1	-	294	90760	c.90536G>A	c.(90535-90537)gGc>gAc	p.G30179D	TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G31820D|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30179	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTCTTTGCCAGTCCCAAC	0.423																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95458-95460)gGc>gAc		titin							195.0	186.0	189.0					2																	179410378		1960	4155	6115	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410378C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90536G>A	2.37:g.179410378C>T	ENSP00000465570:p.Gly30179Asp	False	False		Somatic	0				TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30179D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000592630.1_RNA	p.G31820D	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		344	95683	-			30179			Fibronectin type-III 131.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95459G>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.615238	0.66672	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.82	5.82	0.92795	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64034	0.2562	N	0.25957	0.775	0.53005	D	0.999965	D;D;D;D	0.60160	0.987;0.987;0.987;0.987	P;P;P;P	0.58620	0.842;0.842;0.842;0.842	T	0.66787	-0.5835	9	0.87932	D	0	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	22755;22880;22947;30179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	29252;22755;22947;22880;22752	ENSP00000343764:G29252D;ENSP00000434586:G22755D;ENSP00000340554:G22947D;ENSP00000352154:G22880D	ENSP00000340554:G22947D	G	-	2	0	TTN	179118624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.089000	0.71384	2.756000	0.94617	0.563000	0.77884	GGC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179410378
