#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRRC7	57554	broad.mit.edu	37	1	70484494	70484494	+	Silent	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr1:70484494T>C	ENST00000035383.5	+	13	1329	c.1299T>C	c.(1297-1299)ggT>ggC	p.G433G	LRRC7_ENST00000310961.5_Silent_p.G438G|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	433						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCTCGTGGTGATGAAGGTA	0.393																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1312-1314)ggT>ggC		leucine rich repeat containing 7							94.0	86.0	89.0					1																	70484494		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70484494T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1299T>C	1.37:g.70484494T>C						RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.G433G	p.G438G			Q96NW7	LRRC7_HUMAN			16	1732	+			433					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.1314T>C	CCDS645.1																																																																																				0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		8	27	8	27	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31604515	31604515	+	Silent	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:31604515C>T	ENST00000379416.3	-	12	1164	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	XDH_ENST00000491727.1_5'Flank	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	372	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACACAAGTGTCAGCTTGGCCC	0.537																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1114-1116)ctG>ctA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						77.0	72.0	74.0					2																	31604515		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31604515C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1116G>A	2.37:g.31604515C>T							p.L372L	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			12	1164	-	Acute lymphoblastic leukemia(172;0.155)		372			FAD-binding PCMH-type.		Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.1116G>A	CCDS1775.1																																																																																				0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		4	18	4	18	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226378223	226378223	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:226378223T>C	ENST00000272907.6	+	3	771	c.358T>C	c.(358-360)Tcc>Ccc	p.S120P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	120					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAGATCACAGTCCCTGCACTC	0.567																																						ENST00000272907.6																			0											c.(358-360)Tcc>Ccc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							66.0	75.0	72.0					2																	226378223		2107	4224	6331	SO:0001583	missense	57624							g.chr2:226378223T>C	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.358T>C	2.37:g.226378223T>C	ENSP00000272907:p.Ser120Pro					NYAP2_ENST00000409269.2_Intron	p.S120P	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			3	771	+			120					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.358T>C	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766658	0.90020	.	.	ENSG00000144460	ENST00000272907	T	0.54675	0.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73694	-0.3902	10	0.41790	T	0.15	-13.4026	15.6398	0.76989	0.0:0.0:0.0:1.0	.	120	Q9P242	K1486_HUMAN	P	120	ENSP00000272907:S120P	ENSP00000272907:S120P	S	+	1	0	KIAA1486	226086467	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.638000	0.83328	2.094000	0.63399	0.460000	0.39030	TCC		0.567	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		3	29	3	29	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241658545	241658545	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr2:241658545C>T	ENST00000320389.7	-	45	4947	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1698M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1597	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCACCACCACGAAGCGCCTG	0.632																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5092-5094)Gtg>Atg		kinesin family member 1A							84.0	98.0	93.0					2																	241658545		2143	4265	6408	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658545C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4789G>A	2.37:g.241658545C>T	ENSP00000322791:p.Val1597Met					KIF1A_ENST00000320389.7_Missense_Mutation_p.V1597M	p.V1698M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5338	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1597					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5092G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238030	0.79800	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.14391	2.51;2.51	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.147277	0.44902	U	0.000417	T	0.40272	0.1110	M	0.83118	2.625	0.46564	D	0.999108	D;D	0.76494	0.999;0.998	D;D	0.68943	0.961;0.937	T	0.50816	-0.8783	10	0.87932	D	0	.	16.24	0.82402	0.0:1.0:0.0:0.0	.	1698;1597	F5H045;Q12756	.;KIF1A_HUMAN	M	1597;1698;1706	ENSP00000322791:V1597M;ENSP00000438388:V1698M	ENSP00000322791:V1597M	V	-	1	0	KIF1A	241307218	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.605000	0.61119	1.818000	0.53035	0.467000	0.42956	GTG		0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		39	109	39	109	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10443891	10443891	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr3:10443891C>T	ENST00000352432.4	-	3	608	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R180Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R180Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	180					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGCAGGCCCCGGAACTGTTT	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(538-540)cGg>cAg		ATPase, Ca++ transporting, plasma membrane 2							131.0	142.0	138.0					3																	10443891		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10443891C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.539G>A	3.37:g.10443891C>T	ENSP00000324172:p.Arg180Gln					ATP2B2_ENST00000360273.2_Missense_Mutation_p.R180Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R180Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R180Q	p.R180Q			Q01814	AT2B2_HUMAN			6	1114	-			180					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.539G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777887	0.96929	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.43	5.43	0.79202	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.92756	0.7697	L	0.45470	1.425	0.80722	D	1	D;D;D	0.76494	0.999;0.965;0.978	D;P;P	0.80764	0.994;0.74;0.791	D	0.92695	0.6170	10	0.52906	T	0.07	-27.9247	19.2437	0.93893	0.0:1.0:0.0:0.0	.	180;192;180	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	180;180;180;180;180;146;67;180	ENSP00000324172:R180Q;ENSP00000373311:R180Q;ENSP00000380267:R180Q;ENSP00000353414:R180Q;ENSP00000344677:R180Q;ENSP00000414854:R67Q	ENSP00000342954:R180Q	R	-	2	0	ATP2B2	10418891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.527000	0.85204	0.563000	0.77884	CGG		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	139	5	139	---	---	---	---
RBM46	166863	broad.mit.edu	37	4	155719382	155719382	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr4:155719382T>G	ENST00000281722.3	+	3	806	c.571T>G	c.(571-573)Tat>Gat	p.Y191D	RBM46_ENST00000514866.1_Missense_Mutation_p.Y191D|RBM46_ENST00000510397.1_Missense_Mutation_p.Y191D	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	191	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATTTGTGGAATATGAATCTCA	0.343																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(571-573)Tat>Gat		RNA binding motif protein 46							58.0	55.0	56.0					4																	155719382		2203	4294	6497	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155719382T>G	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.571T>G	4.37:g.155719382T>G	ENSP00000281722:p.Tyr191Asp					RBM46_ENST00000514866.1_Missense_Mutation_p.Y191D|RBM46_ENST00000281722.3_Missense_Mutation_p.Y191D	p.Y191D	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			3	750	+	all_hematologic(180;0.24)	Renal(120;0.0854)	191			RRM 2.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.571T>G	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687700	0.68157	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.21191	2.02;2.02;2.02	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.995;0.992	T	0.77816	-0.2447	10	0.87932	D	0	-14.6393	16.1311	0.81442	0.0:0.0:0.0:1.0	.	191;191;191	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	D	191	ENSP00000424500:Y191D;ENSP00000281722:Y191D;ENSP00000422813:Y191D	ENSP00000281722:Y191D	Y	+	1	0	RBM46	155938832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.873000	0.87193	2.208000	0.71279	0.460000	0.39030	TAT		0.343	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		15	34	15	34	---	---	---	---
CTNNA1	1495	broad.mit.edu	37	5	138163328	138163328	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr5:138163328A>G	ENST00000302763.7	+	7	1073	c.983A>G	c.(982-984)gAc>gGc	p.D328G	CTNNA1_ENST00000355078.5_Missense_Mutation_p.D225G|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D328G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	328	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACGCGTGATGACCGTCGTGAG	0.567																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(982-984)gAc>gGc		catenin (cadherin-associated protein), alpha 1, 102kDa							121.0	104.0	110.0					5																	138163328		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138163328A>G	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.983A>G	5.37:g.138163328A>G	ENSP00000304669:p.Asp328Gly					CTNNA1_ENST00000355078.5_Missense_Mutation_p.D225G|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D328G	p.D328G	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	1073	+			328			Interaction with alpha-actinin.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.983A>G	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774466	0.90108	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.38722	1.12;1.12;1.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.65498	2.005	0.80722	D	1	P;P;P	0.46621	0.868;0.664;0.881	P;P;P	0.56960	0.467;0.484;0.81	T	0.59658	-0.7413	10	0.51188	T	0.08	-22.5059	15.9724	0.80031	1.0:0.0:0.0:0.0	.	328;205;328	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	G	225;328;328;313;328	ENSP00000347190:D225G;ENSP00000304669:D328G;ENSP00000427821:D328G	ENSP00000304669:D328G	D	+	2	0	CTNNA1	138191227	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.287000	0.95975	2.257000	0.74773	0.460000	0.39030	GAC		0.567	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		3	39	3	39	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121604993	121604993	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr6:121604993C>T	ENST00000398212.2	-	13	1485	c.1436G>A	c.(1435-1437)tGt>tAt	p.C479Y	TBC1D32_ENST00000275159.6_Missense_Mutation_p.C479Y	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	479					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CATCTTTGGACAACTTGGTGA	0.289																																						ENST00000275159.6																			0											c.(1435-1437)tGt>tAt		TBC1 domain family, member 32							76.0	73.0	74.0					6																	121604993		1804	4074	5878	SO:0001583	missense	221322							g.chr6:121604993C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1436G>A	6.37:g.121604993C>T	ENSP00000381270:p.Cys479Tyr					TBC1D32_ENST00000398212.2_Missense_Mutation_p.C479Y	p.C479Y							13	1435	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1436G>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	6.458	0.452608	0.12283	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.21361	2.01;2.01	5.58	4.7	0.59300	.	0.176571	0.41001	D	0.000961	T	0.04318	0.0119	L	0.35723	1.085	0.33296	D	0.564221	B	0.09022	0.002	B	0.06405	0.002	T	0.29640	-1.0005	10	0.02654	T	1	-11.862	8.8122	0.34974	0.0:0.7623:0.1529:0.0848	.	479	Q96NH3	BROMI_HUMAN	Y	479	ENSP00000275159:C479Y;ENSP00000381270:C479Y	ENSP00000275159:C479Y	C	-	2	0	C6orf170	121646692	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.889000	0.28282	1.357000	0.45904	0.561000	0.74099	TGT		0.289	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		5	26	5	26	---	---	---	---
TMEM181	57583	broad.mit.edu	37	6	159046201	159046201	+	Silent	SNP	G	G	A			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr6:159046201G>A	ENST00000367090.3	+	12	1442	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	477					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCTTGATAGTGCGGGCGTGTT	0.537																																						ENST00000367090.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1429-1431)gtG>gtA		transmembrane protein 181							236.0	238.0	237.0					6																	159046201		2121	4219	6340	SO:0001819	synonymous_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159046201G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1431G>A	6.37:g.159046201G>A							p.V477V	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	12	1442	+		Breast(66;0.000776)|Ovarian(120;0.0303)	477					Q5VTU1	Silent	SNP	ENST00000367090.3	37	c.1431G>A	CCDS43520.1																																																																																				0.537	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		5	99	5	99	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045528	142045528	+	RNA	SNP	T	T	A			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr7:142045528T>A	ENST00000390392.3	+	0	167									T cell receptor beta variable 4-2																		GCAGTCCCCATGGAAACGGGA	0.473																																						ENST00000390392.3																			0																				128.0	145.0	140.0					7																	142045528		1944	4159	6103			28616							g.chr7:142045528T>A	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045528T>A														0	167	+									RNA	SNP	ENST00000390392.3	37																																																																																						0.473	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		22	96	22	96	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68087551	68087551	+	Silent	SNP	C	C	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr8:68087551C>T	ENST00000262210.5	+	24	3005	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.L647L|ARFGEF1_ENST00000520381.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1027					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACGAGTTGATCTGAAATTTAT	0.353																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2974-2976)Ctg>Ttg		centrosome and spindle pole associated protein 1							72.0	71.0	71.0					8																	68087551		1839	4086	5925	SO:0001819	synonymous_variant	79848					centrosome|microtubule|spindle		g.chr8:68087551C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2974C>T	8.37:g.68087551C>T						ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.L647L	p.L992L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		24	3005	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1027					A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	c.2974C>T	CCDS43744.1																																																																																				0.353	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		12	54	12	54	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102257878	102257878	+	Missense_Mutation	SNP	C	C	A	rs543510700	byFrequency	TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr10:102257878C>A	ENST00000370345.3	-	15	1868	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	591					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATAATGGCATCAGCAAAGCGC	0.557																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1771-1773)Gat>Tat		SEC31 homolog B (S. cerevisiae)							130.0	112.0	118.0					10																	102257878		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102257878C>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1771G>T	10.37:g.102257878C>A	ENSP00000359370:p.Asp591Tyr					SEC31B_ENST00000494350.1_5'UTR	p.D591Y	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	15	1868	-		Colorectal(252;0.117)	591					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1771G>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774273	0.90108	.	.	ENSG00000075826	ENST00000370345	T	0.72051	-0.62	5.54	5.54	0.83059	.	0.090555	0.85682	D	0.000000	D	0.88194	0.6371	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	D	0.90675	0.4601	10	0.87932	D	0	-5.379	18.45	0.90700	0.0:1.0:0.0:0.0	.	590;591	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	Y	591	ENSP00000359370:D591Y	ENSP00000359370:D591Y	D	-	1	0	SEC31B	102247868	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.704000	0.84595	2.617000	0.88574	0.491000	0.48974	GAT		0.557	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		13	33	13	33	---	---	---	---
MGMT	4255	broad.mit.edu	37	10	131506294	131506294	+	Silent	SNP	C	C	A	rs144397748		TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr10:131506294C>A	ENST00000306010.7	+	3	386	c.354C>A	c.(352-354)ccC>ccA	p.P118P	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	87					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	TTCACCATCCCGTTTTCCAGC	0.527								Direct reversal of damage																														ENST00000306010.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(352-354)ccC>ccA	Direct reversal of damage	O-6-methylguanine-DNA methyltransferase							114.0	110.0	112.0					10																	131506294		2203	4300	6503	SO:0001819	synonymous_variant	4255							g.chr10:131506294C>A	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.354C>A	10.37:g.131506294C>A						MGMT_ENST00000462672.1_3'UTR	p.P118P	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	3	386	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	118					Q5VY78	Silent	SNP	ENST00000306010.7	37	c.354C>A	CCDS7660.2																																																																																				0.527	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		4	84	4	84	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56344294	56344294	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr11:56344294G>C	ENST00000526812.2	-	1	969	c.904C>G	c.(904-906)Caa>Gaa	p.Q302E		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCATTTGTTGTATGGCAAGG	0.378																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(904-906)Caa>Gaa		olfactory receptor, family 5, subfamily M, member 10							175.0	175.0	175.0					11																	56344294		1837	4082	5919	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344294G>C	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.904C>G	11.37:g.56344294G>C	ENSP00000436004:p.Gln302Glu						p.Q302E	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	969	-			302					B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.904C>G	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832370	0.32421	.	.	ENSG00000254834	ENST00000526812	T	0.37752	1.18	4.2	-4.3	0.03710	.	.	.	.	.	T	0.21468	0.0517	N	0.20328	0.56	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32161	-0.9917	9	0.72032	D	0.01	.	10.1758	0.42937	0.0878:0.0:0.1544:0.7578	.	302	Q6IEU7	OR5MA_HUMAN	E	302	ENSP00000436004:Q302E	ENSP00000436004:Q302E	Q	-	1	0	OR5M10	56100870	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.950000	0.03889	-0.524000	0.06400	0.632000	0.83419	CAA		0.378	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		5	169	5	169	---	---	---	---
TBK1	29110	broad.mit.edu	37	12	64890177	64890177	+	Missense_Mutation	SNP	A	A	G	rs375610142		TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr12:64890177A>G	ENST00000331710.5	+	16	2090	c.1751A>G	c.(1750-1752)aAa>aGa	p.K584R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	584					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CAAATCCACAAATTTGATAAG	0.214																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1750-1752)aAa>aGa		TANK-binding kinase 1		A	ARG/LYS	1,4293		0,1,2146	23.0	27.0	26.0		1751	3.7	1.0	12		26	1,8481		0,1,4240	no	missense	TBK1	NM_013254.3	26	0,2,6386	GG,GA,AA		0.0118,0.0233,0.0157	possibly-damaging	584/730	64890177	2,12774	2147	4241	6388	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64890177A>G	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1751A>G	12.37:g.64890177A>G	ENSP00000329967:p.Lys584Arg						p.K584R	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	16	2090	+			584					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1751A>G	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130308	0.77549	2.33E-4	1.18E-4	ENSG00000183735	ENST00000331710	T	0.15487	2.42	4.86	3.69	0.42338	.	0.106309	0.64402	D	0.000007	T	0.26919	0.0659	L	0.32530	0.975	0.48901	D	0.999722	D	0.63880	0.993	D	0.70935	0.971	T	0.01013	-1.1481	9	.	.	.	-12.5628	11.2471	0.49004	0.926:0.0:0.074:0.0	.	584	Q9UHD2	TBK1_HUMAN	R	584	ENSP00000329967:K584R	.	K	+	2	0	TBK1	63176444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.233000	0.72320	0.935000	0.37341	0.459000	0.35465	AAA		0.214	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		3	69	3	69	---	---	---	---
MAP3K3	4215	broad.mit.edu	37	17	61744336	61744336	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr17:61744336G>T	ENST00000361733.3	+	6	738	c.418G>T	c.(418-420)Gtg>Ttg	p.V140L	MAP3K3_ENST00000361357.3_Missense_Mutation_p.V171L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	140					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTCCAGACAGGTGCGGATCAA	0.517																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(511-513)Gtg>Ttg		mitogen-activated protein kinase kinase kinase 3							121.0	112.0	115.0					17																	61744336		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61744336G>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.418G>T	17.37:g.61744336G>T	ENSP00000354485:p.Val140Leu					MAP3K3_ENST00000577395.1_Missense_Mutation_p.V140L|MAP3K3_ENST00000584573.1_Missense_Mutation_p.V171L|MAP3K3_ENST00000361733.3_Missense_Mutation_p.V140L|MAP3K3_ENST00000579585.1_Missense_Mutation_p.V171L	p.V171L	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			7	829	+			140					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.511G>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080967	0.36758	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.66995	-0.24;-0.23	6.17	5.21	0.72293	.	0.064532	0.64402	D	0.000010	T	0.52709	0.1751	N	0.22421	0.69	0.58432	D	0.999993	B;B;B;B	0.09022	0.0;0.001;0.001;0.002	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.46034	-0.9220	10	0.22109	T	0.4	.	15.4435	0.75208	0.0669:0.0:0.9331:0.0	.	140;108;140;171	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	L	171;140	ENSP00000354927:V171L;ENSP00000354485:V140L	ENSP00000354927:V171L	V	+	1	0	MAP3K3	59098068	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.723000	0.84788	1.626000	0.50381	0.655000	0.94253	GTG		0.517	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		3	39	3	39	---	---	---	---
SLC35E1	79939	broad.mit.edu	37	19	16664533	16664533	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr19:16664533T>C	ENST00000595753.1	-	6	1207	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.11_ENST00000597357.1_RNA|CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	397					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGGGTAGCTCTGCCGGCTGTA	0.562																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(1189-1191)cAg>cGg		solute carrier family 35, member E1							202.0	182.0	189.0					19																	16664533		2203	4300	6503	SO:0001583	missense	79939				transport	integral to membrane		g.chr19:16664533T>C	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1190A>G	19.37:g.16664533T>C	ENSP00000470652:p.Gln397Arg					CTD-3222D19.2_ENST00000409035.1_Intron	p.Q397R	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			6	1207	-			397					Q8NBQ2|Q96JV7	Missense_Mutation	SNP	ENST00000595753.1	37	c.1190A>G	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727818	0.48833	.	.	ENSG00000127526	ENST00000409648	.	.	.	4.96	2.79	0.32731	.	0.178227	0.51477	D	0.000087	T	0.35653	0.0939	L	0.27053	0.805	0.80722	D	1	P	0.39480	0.675	B	0.33960	0.173	T	0.12502	-1.0545	9	0.59425	D	0.04	-11.0748	11.001	0.47604	0.0:0.0:0.2986:0.7014	.	397	Q96K37	S35E1_HUMAN	R	397	.	ENSP00000387152:Q397R	Q	-	2	0	SLC35E1	16525533	1.000000	0.71417	0.994000	0.49952	0.787000	0.44495	3.590000	0.53979	0.220000	0.20860	0.459000	0.35465	CAG		0.562	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		5	103	5	103	---	---	---	---
GPCPD1	56261	broad.mit.edu	37	20	5556578	5556578	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr20:5556578T>C	ENST00000379019.4	-	9	964	c.752A>G	c.(751-753)cAt>cGt	p.H251R	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	251					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTACCCACATGTCCAGGAAG	0.398																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(751-753)cAt>cGt		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							89.0	78.0	82.0					20																	5556578		2203	4300	6503	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5556578T>C		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.752A>G	20.37:g.5556578T>C	ENSP00000368305:p.His251Arg					GPCPD1_ENST00000481038.1_5'UTR	p.H251R	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			9	964	-			251					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.752A>G	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700209	0.68501	.	.	ENSG00000125772	ENST00000379019	T	0.46063	0.88	5.31	5.31	0.75309	.	0.049397	0.85682	D	0.000000	T	0.34366	0.0895	L	0.34521	1.04	0.58432	D	0.999999	P	0.48764	0.915	B	0.42062	0.374	T	0.07481	-1.0770	10	0.27082	T	0.32	-10.3068	15.5449	0.76090	0.0:0.0:0.0:1.0	.	251	Q9NPB8	GPCP1_HUMAN	R	251	ENSP00000368305:H251R	ENSP00000368305:H251R	H	-	2	0	GPCPD1	5504578	1.000000	0.71417	0.969000	0.41365	0.720000	0.41350	3.899000	0.56288	2.124000	0.65301	0.528000	0.53228	CAT		0.398	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		12	28	12	28	---	---	---	---
HCK	3055	broad.mit.edu	37	20	30681780	30681780	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr20:30681780G>A	ENST00000520553.1	+	11	1390	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000518730.1_Missense_Mutation_p.A381T|HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T|HCK_ENST00000534862.1_Missense_Mutation_p.A383T	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CTTTGGCCTGGCCCGGGTCAT	0.567																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(1147-1149)Gcc>Acc		hemopoietic cell kinase							177.0	138.0	151.0					20																	30681780		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30681780G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1144G>A	20.37:g.30681780G>A	ENSP00000429848:p.Ala382Thr					HCK_ENST00000518730.1_Missense_Mutation_p.A381T|HCK_ENST00000375862.2_Missense_Mutation_p.A402T|HCK_ENST00000520553.1_Missense_Mutation_p.A382T|HCK_ENST00000538448.1_Missense_Mutation_p.A382T|HCK_ENST00000375852.2_Missense_Mutation_p.A403T	p.A383T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		12	1510	+			403			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1147G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693523	0.96793	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	4.87	4.87	0.63330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.34048	0.0884	L	0.47016	1.485	0.80722	D	1	D;D	0.63880	0.991;0.993	P;P	0.62813	0.85;0.907	T	0.04427	-1.0952	10	0.87932	D	0	.	17.1851	0.86865	0.0:0.0:1.0:0.0	.	381;403	P08631-3;P08631	.;HCK_HUMAN	T	383;382;402;382;381;403	ENSP00000444986:A383T;ENSP00000441169:A382T;ENSP00000365022:A402T;ENSP00000429848:A382T;ENSP00000427757:A381T;ENSP00000365012:A403T	ENSP00000365012:A403T	A	+	1	0	HCK	30145441	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	9.555000	0.98123	2.530000	0.85305	0.542000	0.68232	GCC		0.567	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			25	36	25	36	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32697164	32697164	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J4-A83N-01A-11D-A34U-08	TCGA-J4-A83N-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc3cdabd-8915-4d8e-99f6-84a7fa9bd27a	67b19aa7-53d6-481f-9a70-6667a6dfd141	g.chr11:32697164delT	ENST00000335185.5	-	9	635	c.592delA	c.(592-594)agafs	p.R198fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	198										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCTGAAAGTCTTTTGTTTGAT	0.259																																						ENST00000335185.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51						c.(592-594)agafs		coiled-coil domain containing 73							34.0	32.0	33.0					11																	32697164		1791	4040	5831	SO:0001589	frameshift_variant	493860							g.chr11:32697164delT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.592delA	11.37:g.32697164delT	ENSP00000335325:p.Arg198fs					CCDC73_ENST00000534415.1_5'UTR	p.R198fs	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN			9	635	-	Breast(20;0.112)		198					Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	ENST00000335185.5	37	c.592delA	CCDS41630.1																																																																																				0.259	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		24	44	24	44	---	---	---	---
