#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
PRDM16	63976	broad.mit.edu	37	1	3334494	3334495	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:3334494_3334495insTC	ENST00000270722.5	+	11	2843_2844	c.2794_2795insTC	c.(2794-2796)ttcfs	p.F932fs	PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	932	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCTTCAACTTCCGGTCCCCA	0.639			T	EVI1	"""MDS, AML"""																																	ENST00000270722.5	0.940000	5.200000e-01	0.810000	0.610000	0.700000	0.715416	0.700000	0.710000				Dom	yes			Dom	yes		1	1p36.23-p33	1p36.23-p33	63976	T	PR domain containing 16				L	L	EVI1		MDS, AML		0				59						c.(2794-2796)ttcfs		PR domain containing 16																																				SO:0001589	frameshift_variant	63976	0	0					g.chr1:3334494_3334495insTC	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2795_2796dupTC	chr1.hg19:g.3334495_3334496dupTC	ENSP00000270722:p.Phe932fs	0					PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs	p.F932fs			1	2	3	2.057568	Q9HAZ2	PRD16_HUMAN		11	2843_2844	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Frame_Shift_Ins	INS	ENST00000270722.5	0	1	hg19	c.2794_2795insTC	CCDS41236.2	0																																																																																								0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.639	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	1	0	1		2	2		0	0	0	0	102	0	102	96	1	1.880000	-6.771934	1	0.340000	NM_022114		0	45	48	0	332	329	0	0	1	0	0	0	0	102	0	0	1.000000	7.566860e-02	0	0	0	4	0	45	332
MUTYH	4595	broad.mit.edu	37	1	45796949	45796949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:45796949delC	ENST00000372098.3	-	14	1505	c.1372delG	c.(1372-1374)gaafs	p.E458fs	MUTYH_ENST00000372110.3_Frame_Shift_Del_p.E448fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.E142fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.E461fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.E434fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.E447fs			Q9UIF7	MUTYH_HUMAN	mutY homolog	458	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTCTGCCCTTCCAAGGCCAGC	0.542			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000372098.3	1.000000	7.300000e-01	1.000000	0.820000	0.930000	0.921583	0.930000	1.000000			yes	Rec		Adenomatous polyposis coli	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)				E	E		colorectal			0				19						c.(1372-1374)gaafs	Base excision repair (BER), DNA glycosylases	mutY homolog							97.0	95.0	96.0					1																	45796949		2203	4300	6503	SO:0001589	frameshift_variant	4595	0	0		MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	g.chr1:45796949delC	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1372delG	chr1.hg19:g.45796949delC	ENSP00000361170:p.Glu458fs	0					MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.E448fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.E142fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.E461fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.E434fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.E444fs	p.E458fs			1	2	3	2.057568	Q9UIF7	MUTYH_HUMAN		14	1505	-	Acute lymphoblastic leukemia(166;0.155)		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Frame_Shift_Del	DEL	ENST00000372098.3	1	1	hg19	c.1372delG	CCDS520.1	1																																																																																								0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.542	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	1	0	1		17	2		0	0	0	1	77	0	77	76	1	1.880000	-2.976461	1	0.340000	NM_012222		0	60	67	0	318	316	0	0	1	1	0	0	0	77	0	0	1.000000	9.965906e-01	0	3	0	45	0	60	318
ADAM12	8038	broad.mit.edu	37	10	127755358	127755358	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:127755358G>A	ENST00000368679.4	-	13	1659	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.C450C	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	450	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCATTGCAGCAGCGATTCA	0.522																																						ENST00000368679.4	0.320000	5.000000e-02	0.230000	0.090000	0.150000	0.168386	0.150000	0.140000																										0				69						c.(1348-1350)tgC>tgT		ADAM metallopeptidase domain 12							101.0	86.0	91.0					10																	127755358		2203	4300	6503	SO:0001819	synonymous_variant	8038	1	121412	28				g.chr10:127755358G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1350C>T	chr10.hg19:g.127755358G>A		0					ADAM12_ENST00000368676.4_Silent_p.C450C|ADAM12_ENST00000467145.1_5'UTR	p.C450C	NM_003474.4	NP_003465.3	1	2	3	2.042892	O43184	ADA12_HUMAN		13	1659	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	0	1	hg19	c.1350C>T	CCDS7653.1	0																																																																																								0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.522	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1	0	0	1	2	2	2	2	0	0	0	0	59	0	59	57	1	1.880000	-6.537760	1	0.340000			0	5	5	0	201	201	0		1	0		0	0	59	0	0	0.938304	1.972939e-01	0	1	0	27	0	5	201
DOCK1	1793	broad.mit.edu	37	10	129213435	129213435	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:129213435C>T	ENST00000280333.6	+	44	4494	c.4385C>T	c.(4384-4386)aCc>aTc	p.T1462I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1462	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATCGAGAGAACCATATATACA	0.448																																						ENST00000280333.6	1.000000	4.500000e-01	0.890000	0.570000	0.720000	0.732582	0.720000	1.000000																										0				72						c.(4384-4386)aCc>aTc		dedicator of cytokinesis 1							105.0	111.0	109.0					10																	129213435		1992	4192	6184	SO:0001583	missense	1793	0	0					g.chr10:129213435C>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4385C>T	chr10.hg19:g.129213435C>T	ENSP00000280333:p.Thr1462Ile	0						p.T1462I	NM_001380.3	NP_001371.1	1	2	3	2.042892	Q14185	DOCK1_HUMAN		44	4494	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	1	1	hg19	c.4385C>T		0	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833993	0.71373	.	.	ENSG00000150760	ENST00000280333	T	0.23348	1.91	5.05	5.05	0.67936	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.98;0.988;0.997	T	0.71318	-0.4629	10	0.87932	D	0	.	18.6123	0.91290	0.0:1.0:0.0:0.0	.	1462;1528;1462	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	I	1462	ENSP00000280333:T1462I	ENSP00000280333:T1462I	T	+	2	0	0	DOCK1	129103425	129103425	1.000000	0.71417	0.336000	0.25522	0.625000	0.37756	7.604000	0.82830	2.634000	0.89283	0.650000	0.86243	ACC	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	1	0	1	2	2	2	2	0	0	0	0	33	0	33	33	1	1.880000	-10.412170	1	0.340000	NM_001380		0	19	19	0	137	135	1		1	1		0	0	33	0	0	0.999993	9.950280e-01	0	23	0	42	0	19	137
PLCE1	51196	broad.mit.edu	37	10	96018889	96018889	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:96018889G>A	ENST00000371380.3	+	12	4031	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1266					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAACACCAGCGATCTTCAGCC	0.468																																						ENST00000371380.3	1.000000	7.300000e-01	1.000000	0.810000	0.890000	0.899049	0.890000	1.000000																										0				8						c.(3796-3798)Gat>Aat		phospholipase C, epsilon 1							170.0	166.0	167.0					10																	96018889		1988	4164	6152	SO:0001583	missense	51196	0	0					g.chr10:96018889G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3796G>A	chr10.hg19:g.96018889G>A	ENSP00000360431:p.Asp1266Asn	0					PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N	p.D1266N			1	2	3	2.043197	Q9P212	PLCE1_HUMAN		12	4031	+		Colorectal(252;0.0458)	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	1	1	hg19	c.3796G>A	CCDS41552.1	1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114130	0.56398	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.91	4.07	0.47477	5.91	4.07	0.47477	.	0.307693	0.34725	N	0.003735	T	0.14874	0.0359	N	0.19112	0.55	0.36609	D	0.875091	P;P;B	0.40931	0.614;0.733;0.103	B;B;B	0.36766	0.08;0.232;0.032	T	0.13388	-1.0511	10	0.17369	T	0.5	.	12.3034	0.54887	0.1361:0.0:0.8639:0.0	.	1250;958;1266	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1266;1266;958;958	ENSP00000260766:D1266N;ENSP00000360431:D1266N;ENSP00000360438:D958N;ENSP00000360426:D958N	ENSP00000260766:D1266N	D	+	1	0	0	PLCE1	96008879	96008879	1.000000	0.71417	0.016000	0.15963	0.889000	0.51656	6.412000	0.73303	0.843000	0.35070	0.555000	0.69702	GAT	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	1	0	1	2	2	2	2	0	0	0	0	139	0	139	139	1	1.880000	-20.000000	1	0.340000	NM_016341		0	85	86	0	470	466	1		1	0		0	0	139	0	0	1.000000	1.735837e-01	0	0	0	5	0	85	470
LRRC27	80313	broad.mit.edu	37	10	134165170	134165170	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:134165170C>T	ENST00000368614.3	+	7	1091	c.986C>T	c.(985-987)gCg>gTg	p.A329V	LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.R361*|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TACCAAATGGCGATCCGAGCA	0.522																																						ENST00000368614.3	0.080000	0	0.060000	0.020000	0.030000	0.043807	0.030000	0.040000																										0				18						c.(985-987)gCg>gTg		leucine rich repeat containing 27							125.0	136.0	132.0					10																	134165170		2203	4300	6503	SO:0001583	missense	80313	3	121412	39				g.chr10:134165170C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.986C>T	chr10.hg19:g.134165170C>T	ENSP00000357603:p.Ala329Val	0					LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.R361*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V	p.A329V	NM_030626.2	NP_085129.1	1	2	3	2.042892	Q9C0I9	LRC27_HUMAN		7	1091	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	0	1	hg19	c.986C>T	CCDS31316.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.464280|4.464280	0.84425|0.84425	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000392638;ENST00000344079	T;T;T;T;T;T|.	0.42513|.	2.69;2.59;2.59;4.35;4.35;0.97|.	4.25|4.25	-8.49|-8.49	0.00931|0.00931	4.25|4.25	-8.49|-8.49	0.00931|0.00931	.|.	4.873430|.	0.00508|.	N|.	0.000163|.	T|.	0.09423|.	0.0232|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.28470|.	0.048;0.093;0.213;0.136|.	B;B;B;B|.	0.25405|.	0.024;0.044;0.06;0.016|.	T|.	0.10451|.	-1.0629|.	9|.	0.05436|0.02654	T|T	0.98|1	-0.0569|-0.0569	3.4252|3.4252	0.07408|0.07408	0.1986:0.4722:0.1832:0.146|0.1986:0.4722:0.1832:0.146	.|.	329;202;267;329|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9|.	.;.;.;LRC27_HUMAN|.	V|X	329;329;329;267;267;202|361	ENSP00000357604:A329V;ENSP00000357603:A329V;ENSP00000357602:A329V;ENSP00000357601:A267V;ENSP00000357599:A267V;ENSP00000407949:A202V|.	ENSP00000357599:A267V|ENSP00000342641:R361X	A|R	+|+	2|1	0|2	0|2	LRRC27|LRRC27	134015160|134015160	134015160|134015160	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.914000|-3.914000	0.00335|0.00335	-3.621000|-3.621000	0.00131|0.00131	-1.080000|-1.080000	0.02220|0.02220	GCG|CGA	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.522	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	0	0	1	2	2	2	2	0	0	0	0	269	0	269	266	1	1.880000	-2.044663	0	0.340000	XM_290462		0	6	6	0	928	923	0		1	0		0	0	269	0	0	0.964431	1.911051e-02	0	0	0	27	0	6	928
CPT1A	1374	broad.mit.edu	37	11	68562300	68562300	+	Missense_Mutation	SNP	C	C	T	rs144866081		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:68562300C>T	ENST00000265641.5	-	8	1005	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H|CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	284					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCCAGTTTGCGCCTGTAAAG	0.433																																						ENST00000265641.5	0.190000	3.000000e-02	0.140000	0.050000	0.090000	0.100621	0.090000	0.080000																										0				42						c.(850-852)cGc>cAc		carnitine palmitoyltransferase 1A (liver)	Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	C	HIS/ARG,HIS/ARG	0,4400		0,0,2200	130.0	126.0	127.0		851,851	0.0	0.0	11	dbSNP_134	127	2,8586	2.2+/-6.3	0,2,4292	yes	missense,missense	CPT1A	NM_001031847.2,NM_001876.3	29,29	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	284/757,284/774	68562300	2,12986	2200	4294	6494	SO:0001583	missense	1374	23	121412	46				g.chr11:68562300C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.851G>A	chr11.hg19:g.68562300C>T	ENSP00000265641:p.Arg284His	0					CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H	p.R284H	NM_001876.3	NP_001867.2	1	2	3	2.043682	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)	8	1005	-	Esophageal squamous(3;3.28e-14)		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	0	1	hg19	c.851G>A	CCDS8185.1	0	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089129	0.20390	0.0	2.33E-4	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.15	0.0249	0.14143	5.15	0.0249	0.14143	.	0.225561	0.41500	N	0.000876	D	0.84361	0.5455	L	0.60067	1.865	0.52501	D	0.999954	B;B;B	0.28933	0.03;0.037;0.228	B;B;B	0.28638	0.052;0.052;0.092	T	0.77983	-0.2382	10	0.44086	T	0.13	.	10.8556	0.46798	0.0:0.6036:0.0:0.3964	.	284;284;284	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	H	284	ENSP00000439084:R284H;ENSP00000365803:R284H;ENSP00000265641:R284H;ENSP00000446108:R284H	ENSP00000265641:R284H	R	-	2	0	0	CPT1A	68318876	68318876	0.244000	0.23889	0.012000	0.15200	0.140000	0.21249	0.769000	0.26604	0.201000	0.20466	0.655000	0.94253	CGC	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.433	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	0	0	1	2	2	2	2	0	0	0	0	113	0	113	111	1	1.880000	-2.163751	0	0.340000	NM_001876		0	6	6	0	400	399	0		1	0		0	0	113	0	0	0.964981	2.802167e-01	0	0	0	61	0	6	400
ARHGEF17	9828	broad.mit.edu	37	11	73067381	73067381	+	Silent	SNP	C	C	T	rs113094822	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:73067381C>T	ENST00000263674.3	+	6	4175	c.3825C>T	c.(3823-3825)atC>atT	p.I1275I	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1275					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGGCTCACATCGAGGGCATGG	0.647																																						ENST00000263674.3	1.000000	6.400000e-01	1.000000	0.800000	0.990000	0.924078	0.990000	1.000000																										0				32						c.(3823-3825)atC>atT		Rho guanine nucleotide exchange factor (GEF) 17							70.0	48.0	55.0					11																	73067381		2200	4293	6493	SO:0001819	synonymous_variant	9828	1	121372	35				g.chr11:73067381C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3825C>T	chr11.hg19:g.73067381C>T		0					AP002761.1_ENST00000582555.1_RNA	p.I1275I	NM_014786.3	NP_055601.2	1	2	3	2.043682	Q96PE2	ARHGH_HUMAN		6	4175	+			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	1	1	hg19	c.3825C>T	CCDS8221.1	1																																																																																								0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	1	0	1	2	2	2	2	0	0	0	0	40	0	40	40	1	1.880000	-20.000000	1	0.340000	NM_014786		0	20	19	0	99	99	1		1	1		0	0	40	0	0	0.999997	9.999588e-01	0	3	0	87	0	20	99
TRPV4	59341	broad.mit.edu	37	12	110234507	110234507	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110234507G>T	ENST00000418703.2	-	6	1249	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	TRPV4_ENST00000261740.2_Silent_p.I385I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000544971.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	385				I -> V (in Ref. 1; AAG28029). {ECO:0000305}.	actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTGCTGAAAGATCTGCACAG	0.612																																						ENST00000418703.2	0.390000	1.200000e-01	0.320000	0.170000	0.230000	0.249539	0.230000	0.230000																										0				35						c.(1153-1155)atC>atA		transient receptor potential cation channel, subfamily V, member 4							61.0	56.0	58.0					12																	110234507		2203	4300	6503	SO:0001819	synonymous_variant	59341	0	0					g.chr12:110234507G>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1155C>A	chr12.hg19:g.110234507G>T		0					TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000261740.2_Silent_p.I385I	p.I385I	NM_001177431.1	NP_001170902.1	0	0	0	2.010784	Q9HBA0	TRPV4_HUMAN		6	1249	-			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	0	1	hg19	c.1155C>A	CCDS9134.1	0																																																																																								0.328586		TCGA-XD-AAUL-01A-21D-A397-08	0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	0	1	2	2	2	2	0	0	0	0	69	0	69	69	1	1.880000	-12.879340	1	0.340000	NM_021625		0	11	11	0	263	262	0		1	1		0	0	69	0	0	0.998395	5.454876e-01	0	2	0	41	0	11	263
ATP2A2	488	broad.mit.edu	37	12	110783101	110783101	+	Silent	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110783101G>C	ENST00000539276.2	+	18	2764	c.2655G>C	c.(2653-2655)gtG>gtC	p.V885V	ATP2A2_ENST00000395494.2_Silent_p.V858V|ATP2A2_ENST00000308664.6_Silent_p.V885V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	885					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TTGAAGGCGTGGATTGTGCAA	0.443																																						ENST00000539276.2	0.110000	1.000000e-02	0.080000	0.030000	0.050000	0.058514	0.050000	0.050000																										0				38						c.(2653-2655)gtG>gtC		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							194.0	176.0	182.0					12																	110783101		2203	4300	6503	SO:0001819	synonymous_variant	488	0	0					g.chr12:110783101G>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2655G>C	chr12.hg19:g.110783101G>C		0					ATP2A2_ENST00000395494.2_Silent_p.V858V|ATP2A2_ENST00000308664.6_Silent_p.V885V	p.V885V			0	0	0	2.010784	P16615	AT2A2_HUMAN		18	2764	+			A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	0	1	hg19	c.2655G>C	CCDS9144.1	0	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226552	0.22542	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.49	2.35	0.29111	5.49	2.35	0.29111	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	.	3.8067	0.08780	0.1464:0.1051:0.5553:0.1932	.	.	.	.	R	776	.	.	G	+	1	0	0	ATP2A2	109267484	109267484	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	0.226000	0.17776	0.730000	0.32425	-0.345000	0.07892	GGA	0.328586		TCGA-XD-AAUL-01A-21D-A397-08	0.443	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	0	0	0	2	2	2	2	0	0	0	0	192	0	192	190	1	1.880000	-2.238275	0	0.340000	NM_001681		0	6	4	0	682	675	0		1	1		0	0	192	0	0	0.963625	9.102100e-01	0	4	0	487	0	6	682
SDS	10993	broad.mit.edu	37	12	113831803	113831803	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:113831803G>A	ENST00000257549.4	-	7	794	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	224					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CAGTCTTCACGCCCAGGGCCT	0.577																																						ENST00000257549.4	1.000000	7.500000e-01	1.000000	0.880000	0.990000	0.958183	0.990000	1.000000																										0				11						c.(670-672)ggC>ggT		serine dehydratase	L-Serine(DB00133)						46.0	46.0	46.0					12																	113831803		2203	4300	6503	SO:0001819	synonymous_variant	10993	0	0					g.chr12:113831803G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.672C>T	chr12.hg19:g.113831803G>A		0						p.G224G	NM_006843.2	NP_006834.2	0	0	0	2.010784	P20132	SDHL_HUMAN		7	794	-			A8K9P5	Silent	SNP	ENST00000257549.4	1	1	hg19	c.672C>T	CCDS9169.1	1																																																																																								0.328586		TCGA-XD-AAUL-01A-21D-A397-08	0.577	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	1	0	1	2	2	2	2	0	0	0	0	51	0	51	51	1	1.880000	-20.000000	1	0.340000	NM_006843		0	37	37	0	170	169	1		1	0		0	0	51	0	0	1.000000	9.841895e-01	0	0	0	33	0	37	170
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	ENST00000256078.4	0.850000	4.500000e-01	0.750000	0.540000	0.640000	0.654766	0.640000	0.640000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	0	0		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	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	chr12.hg19:g.25398285C>G	ENSP00000256078:p.Gly12Arg	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12R	NM_033360.2	NP_203524.1	0	0	0	2.011841	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	97	-	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)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.34G>C	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	0	KRAS	25289552	25289552	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	0.328586		TCGA-XD-AAUL-01A-21D-A397-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	17	2	2	2	0	1	0	0	99	8016	99	98	1	1.880000	-13.885680	1	0.340000	NM_033360		1365	34	34	6666	271	271	1	1	1	1	1	0	0	99	339	1	1.000000	6.988829e-01	1	8	56	13	356	34	271
KRT76	51350	broad.mit.edu	37	12	53165942	53165942	+	Missense_Mutation	SNP	C	C	T	rs61730598	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:53165942C>T	ENST00000332411.2	-	5	1126	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	358	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R358H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATACTGGGCGCGGACCTCGGC	0.587													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20630	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2	0.300000	4.000000e-02	0.220000	0.080000	0.130000	0.154540	0.130000	0.130000																										1	Substitution - Missense(1)	p.R358H(1)	endometrium(1)	27						c.(1072-1074)cGc>cAc		keratin 76		C	HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	89.0	77.0	81.0		1073	-2.3	0.0	12	dbSNP_129	81	0,8600	1.2+/-3.3	0,0,4300	no	missense	KRT76	NM_015848.4	29	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	probably-damaging	358/639	53165942	13,12993	2203	4300	6503	SO:0001583	missense	51350	48	121410	49				g.chr12:53165942C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1073G>A	chr12.hg19:g.53165942C>T	ENSP00000330101:p.Arg358His	0						p.R358H	NM_015848.4	NP_056932.2	0	0	0	2.011841	Q01546	K22O_HUMAN		5	1126	-			B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	0	1	hg19	c.1073G>A	CCDS8838.1	0	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.82	2.053838	0.36277	0.002951	0.0	ENSG00000185069	ENST00000332411	D	0.93307	-3.2	4.42	-2.3	0.06785	4.42	-2.3	0.06785	Filament (1);	0.734040	0.11408	N	0.567073	D	0.96494	0.8856	M	0.90814	3.15	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	D	0.91683	0.5360	10	0.87932	D	0	.	11.445	0.50118	0.0:0.3928:0.0:0.6072	.	358	Q01546	K22O_HUMAN	H	358	ENSP00000330101:R358H	ENSP00000330101:R358H	R	-	2	0	0	KRT76	51452209	51452209	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	0.434000	0.21494	-0.489000	0.06716	0.462000	0.41574	CGC	0.328586		TCGA-XD-AAUL-01A-21D-A397-08	0.587	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	0	0	1	2	2	2	2	0	0	0	0	46	0	46	46	1	1.880000	-2.732006	1	0.340000	NM_015848		0	4	4	0	179	177	0		1			0	0	46	0	0	0.888693	0	0	0	0	0	0	4	179
LRRIQ1	84125	broad.mit.edu	37	12	85623348	85623348	+	Missense_Mutation	SNP	C	C	T	rs1395676	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:85623348C>T	ENST00000393217.2	+	25	4937	c.4876C>T	c.(4876-4878)Cgg>Tgg	p.R1626W	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1626								p.R1626W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAATTAGAACGGAATAGAGA	0.358																																						ENST00000393217.2	1.000000	9.400000e-01	1.000000	0.990000	0.990000	0.996901	0.990000	1.000000																										1	Substitution - Missense(1)	p.R1626W(1)	large_intestine(1)	83						c.(4876-4878)Cgg>Tgg		leucine-rich repeats and IQ motif containing 1							122.0	117.0	118.0					12																	85623348		1822	4083	5905	SO:0001583	missense	84125	733	120792	62				g.chr12:85623348C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4876C>T	chr12.hg19:g.85623348C>T	ENSP00000376910:p.Arg1626Trp	0					LRRIQ1_ENST00000528777.3_3'UTR	p.R1626W	NM_001079910.1	NP_001073379.1	0	0	0	2.010784	Q96JM4	LRIQ1_HUMAN		25	4937	+			Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	1	0	hg19	c.4876C>T	CCDS41816.1	1	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038929	0.07497	.	.	ENSG00000133640	ENST00000393217	T	0.55052	0.54	5.3	-0.326	0.12698	5.3	-0.326	0.12698	.	.	.	.	.	T	0.32675	0.0837	N	0.24115	0.695	0.09310	N	0.999994	B	0.33777	0.425	B	0.24269	0.052	T	0.15521	-1.0434	9	0.87932	D	0	.	8.6648	0.34114	0.4479:0.4346:0.0:0.1174	.	1626	Q96JM4	LRIQ1_HUMAN	W	1626	ENSP00000376910:R1626W	ENSP00000376910:R1626W	R	+	1	2	2	LRRIQ1	84147479	84147479	0.998000	0.40836	0.452000	0.26994	0.279000	0.26890	0.865000	0.27940	0.065000	0.16485	-0.272000	0.10252	CGG	0.328586		TCGA-XD-AAUL-01A-21D-A397-08	0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	1	0	1	2	2	2	2	0	0	0	0	116	0	116	116	1	1.880000	-2.306346	0	0.340000	NM_032165		0	98	98	0	397	397	1		1	0		0	0	116	0	0	1.000000	3.983871e-02	0	1	0	1	0	98	397
RNF34	80196	broad.mit.edu	37	12	121855430	121855430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:121855430C>T	ENST00000392464.2	+	3	418	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000361234.5_Nonsense_Mutation_p.R117*					ring finger protein 34, E3 ubiquitin protein ligase									p.R118*(1)		breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TCAGTTAATGCGACTGAAGGT	0.428																																						ENST00000392464.2	0.110000	1.000000e-02	0.080000	0.020000	0.040000	0.057881	0.040000	0.050000																										1	Substitution - Nonsense(1)	p.R118*(1)	prostate(1)	2						c.(349-351)Cga>Tga		ring finger protein 34, E3 ubiquitin protein ligase							98.0	91.0	93.0					12																	121855430		2203	4300	6503	SO:0001587	stop_gained	80196	0	0					g.chr12:121855430C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.349C>T	chr12.hg19:g.121855430C>T	ENSP00000376257:p.Arg117*	0					RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000361234.5_Nonsense_Mutation_p.R117*	p.R117*			0	0	0	2.010784				3	418	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			Nonsense_Mutation	SNP	ENST00000392464.2	0	1	hg19	c.349C>T		0	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302047	0.81136	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000554606;ENST00000392464;ENST00000354795	.	.	.	5.87	1.75	0.24633	5.87	1.75	0.24633	.	0.108690	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-11.5701	16.5911	0.84765	0.5926:0.4074:0.0:0.0	.	.	.	.	X	117;118;110;117;118	.	ENSP00000346850:R118X	R	+	1	2	2	RNF34	120339813	120339813	0.997000	0.39634	0.999000	0.59377	0.982000	0.71751	0.562000	0.23531	0.468000	0.27243	-0.152000	0.13540	CGA	0.328586		TCGA-XD-AAUL-01A-21D-A397-08	0.428	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	0	0	1	2	2	2	2	0	0	0	0	153	0	153	151	1	1.880000	-2.177290	0	0.340000	NM_194271		0	5	5	0	590	590	0		1	0		0	0	153	0	0	0.937777	1.617830e-01	0	0	0	70	0	5	590
PCDH17	27253	broad.mit.edu	37	13	58299162	58299162	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr13:58299162T>G	ENST00000377918.3	+	4	3240	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1072					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1072V(2)|p.L1072L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTCAGTACTTGCCCACTGA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3	0.210000	3.000000e-02	0.140000	0.060000	0.090000	0.112349	0.090000	0.090000																										3	Substitution - Missense(2)|Substitution - coding silent(1)	p.L1072V(2)|p.L1072L(1)	prostate(1)|large_intestine(1)|lung(1)	120						c.(3214-3216)Ttg>Gtg		protocadherin 17							107.0	103.0	104.0					13																	58299162		2203	4300	6503	SO:0001583	missense	27253	0	0					g.chr13:58299162T>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3214T>G	chr13.hg19:g.58299162T>G	ENSP00000367151:p.Leu1072Val	0						p.L1072V	NM_001040429.2	NP_001035519.1	1	2	3	2.051192	O14917	PCD17_HUMAN		4	3240	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	0	1	hg19	c.3214T>G	CCDS31986.1	0	.	.	.	.	.	.	.	.	.	.	T	6.250	0.414235	0.11870	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.96	1.04	0.20106	5.96	1.04	0.20106	.	0.144833	0.46758	D	0.000262	T	0.26521	0.0648	N	0.22421	0.69	0.31959	N	0.608665	B	0.20261	0.043	B	0.16722	0.016	T	0.15867	-1.0422	9	.	.	.	.	5.7106	0.17933	0.1369:0.428:0.0:0.4351	.	1072	O14917	PCD17_HUMAN	V	1072	ENSP00000367151:L1072V	.	L	+	1	2	2	PCDH17	57197163	57197163	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.380000	0.20602	0.182000	0.20032	0.533000	0.62120	TTG	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	0	0	1	2	2	2	2	0	0	0	0	79	0	79	78	1	1.880000	-6.219507	1	0.340000	NM_001040429		0	6	6	0	389	386	0		1	0		0	0	79	0	0	0.964426	1.148881e-02	0	0	0	9	0	6	389
SLC8A3	6547	broad.mit.edu	37	14	70634978	70634978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:70634978G>T	ENST00000381269.2	-	2	915	c.162C>A	c.(160-162)tgC>tgA	p.C54*	SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	54					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACCCTCCTTGCAGTCCGATG	0.542																																						ENST00000381269.2	1.000000	8.500000e-01	1.000000	0.990000	0.990000	0.987780	0.990000	1.000000																										0				54						c.(160-162)tgC>tgA		solute carrier family 8 (sodium/calcium exchanger), member 3							72.0	60.0	64.0					14																	70634978		2203	4300	6503	SO:0001587	stop_gained	6547	0	0					g.chr14:70634978G>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.162C>A	chr14.hg19:g.70634978G>T	ENSP00000370669:p.Cys54*	0					SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*	p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	1	2	3	2.054309	P57103	NAC3_HUMAN		2	915	-			Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Nonsense_Mutation	SNP	ENST00000381269.2	0	1	hg19	c.162C>A	CCDS35498.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790219	0.90367	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	4.84	1.96	0.26148	4.84	1.96	0.26148	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5618	0.33516	0.3052:0.0:0.6948:0.0	.	.	.	.	X	54	.	ENSP00000349392:C54X	C	-	3	2	2	SLC8A3	69704731	69704731	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.591000	0.53986	0.645000	0.30675	-0.251000	0.11542	TGC	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.542	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	1	0	1	2	2	2	2	0	0	0	0	61	0	61	59	1	1.880000	-20.000000	1	0.340000			0	39	39	0	160	159	1		1			0	0	61	0	0	1.000000	0	0	0	0	0	0	39	160
GPR176	11245	broad.mit.edu	37	15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A	rs373118560		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:40093386G>A	ENST00000561100.1	-	3	2360	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	GPR176_ENST00000299092.3_Missense_Mutation_p.R498W|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512																																						ENST00000561100.1	0.140000	2.000000e-02	0.110000	0.040000	0.060000	0.077875	0.060000	0.060000																										0				23						c.(1495-1497)Cgg>Tgg		G protein-coupled receptor 176		G	TRP/ARG	0,4406		0,0,2203	111.0	102.0	105.0		1495	3.2	1.0	15		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR176	NM_007223.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	499/516	40093386	1,13005	2203	4300	6503	SO:0001583	missense	11245	9	121412	45				g.chr15:40093386G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1495C>T	chr15.hg19:g.40093386G>A	ENSP00000453076:p.Arg499Trp	0					GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000299092.3_Missense_Mutation_p.R498W|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'Flank	p.R499W	NM_007223.1	NP_009154.1	0	1	1	2.040204	Q14439	GP176_HUMAN		3	2360	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	0	1	hg19	c.1495C>T	CCDS10051.1	0	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188762	0.57909	0.0	1.16E-4	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.85556	-2.0	6.17	3.22	0.36961	6.17	3.22	0.36961	.	0.112267	0.64402	N	0.000014	T	0.76357	0.3976	L	0.48642	1.525	0.58432	D	0.999999	B	0.33135	0.399	B	0.23275	0.045	T	0.74858	-0.3521	10	0.87932	D	0	-10.342	8.0277	0.30446	0.1344:0.0:0.6508:0.2148	.	499	Q14439	GP176_HUMAN	W	499;454	ENSP00000439361:R454W	ENSP00000299092:R499W	R	-	1	2	2	GPR176	37880678	37880678	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.812000	0.47994	0.939000	0.37446	0.655000	0.94253	CGG	0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.512	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	0	0	1	2	2	2	2	0	0	0	0	114	0	114	114	1	1.880000	-2.540621	1	0.340000	NM_007223		0	6	6	0	518	514	0		1	0		0	0	114	0	0	0.964317	1.570954e-01	0	0	0	52	0	6	518
AQP9	366	broad.mit.edu	37	15	58476236	58476236	+	Missense_Mutation	SNP	C	C	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:58476236C>G	ENST00000219919.4	+	6	1160	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	AQP9_ENST00000536493.1_Missense_Mutation_p.L264V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	264					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CATCTATGTTCTTGTCATTGA	0.433																																						ENST00000219919.4	1.000000	8.600000e-01	1.000000	0.940000	0.990000	0.982068	0.990000	1.000000																										0				21						c.(790-792)Ctt>Gtt		aquaporin 9							171.0	166.0	168.0					15																	58476236		2192	4292	6484	SO:0001583	missense	366	0	0					g.chr15:58476236C>G	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.790C>G	chr15.hg19:g.58476236C>G	ENSP00000219919:p.Leu264Val	0					AQP9_ENST00000536493.1_Missense_Mutation_p.L264V|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|ALDH1A2_ENST00000558231.1_Intron	p.L264V	NM_020980.3	NP_066190.2	0	1	1	2.040204	O43315	AQP9_HUMAN		6	1160	+			Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	1	1	hg19	c.790C>G	CCDS10165.1	1	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194115	0.22037	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.12465	2.68;2.68	5.31	-0.166	0.13351	5.31	-0.166	0.13351	Aquaporin-like (2);	0.479864	0.18495	N	0.139524	T	0.05044	0.0135	N	0.08118	0	0.09310	N	0.999999	B	0.24576	0.106	B	0.23852	0.049	T	0.34378	-0.9831	10	0.28530	T	0.3	.	3.1734	0.06560	0.1104:0.4588:0.2167:0.2141	.	264	O43315	AQP9_HUMAN	V	264	ENSP00000219919:L264V;ENSP00000441390:L264V	ENSP00000219919:L264V	L	+	1	0	0	AQP9	56263528	56263528	0.003000	0.15002	0.001000	0.08648	0.991000	0.79684	0.074000	0.14662	0.095000	0.17434	0.655000	0.94253	CTT	0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.433	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	1	0	1	2	2	2	2	0	0	0	0	165	0	165	165	1	1.880000	-20.000000	1	0.340000	NM_020980		0	107	107	0	496	496	0		1	0		0	0	165	0	0	1.000000	6.080381e-01	0	0	0	11	0	107	496
HS3ST4	9951	broad.mit.edu	37	16	26147120	26147120	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:26147120A>G	ENST00000331351.5	+	2	1314	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	308					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAACCCGAGATCCCCACCTT	0.542																																						ENST00000331351.5	1.000000	6.900000e-01	0.920000	0.760000	0.830000	0.845158	0.830000	0.840000																										0				15						c.(922-924)Atc>Gtc		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							156.0	149.0	151.0					16																	26147120		1568	3582	5150	SO:0001583	missense	9951	0	0					g.chr16:26147120A>G	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.922A>G	chr16.hg19:g.26147120A>G	ENSP00000330606:p.Ile308Val	0					HS3ST4_ENST00000475436.1_3'UTR	p.I308V	NM_006040.2	NP_006031.2	1	2	3	2.055871	Q9Y661	HS3S4_HUMAN		2	1314	+			Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	1	1	hg19	c.922A>G	CCDS53995.1	0	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273903	0.59649	.	.	ENSG00000182601	ENST00000331351	T	0.81415	-1.49	5.35	5.35	0.76521	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.82545	0.5060	L	0.55017	1.72	0.47094	D	0.999317	P	0.35944	0.529	P	0.46940	0.532	T	0.81120	-0.1077	10	0.35671	T	0.21	.	14.5047	0.67746	1.0:0.0:0.0:0.0	.	308	Q9Y661	HS3S4_HUMAN	V	308	ENSP00000330606:I308V	ENSP00000330606:I308V	I	+	1	0	0	HS3ST4	26054621	26054621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.015000	0.59207	0.533000	0.62120	ATC	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.542	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	1	0	1	2	2	2	2	0	0	0	0	171	0	171	168	1	1.880000	-20.000000	1	0.340000	NM_006040		0	104	103	0	626	625	1		1			0	0	171	0	0	1.000000	0	0	0	0	0	0	104	626
SLC16A11	162515	broad.mit.edu	37	17	6945697	6945697	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:6945697G>A	ENST00000308009.1	-	3	1141	c.804C>T	c.(802-804)caC>caT	p.H268H	SLC16A11_ENST00000447225.1_Silent_p.H244H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	268					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGTCTAAAGCGTGGGGAGCCA	0.672																																						ENST00000308009.1	1.000000	4.000000e-01	0.960000	0.580000	0.780000	0.773814	0.780000	1.000000																										0				9						c.(802-804)caC>caT		solute carrier family 16, member 11							19.0	15.0	16.0					17																	6945697		2168	4282	6450	SO:0001819	synonymous_variant	162515	0	0					g.chr17:6945697G>A	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.804C>T	chr17.hg19:g.6945697G>A		1					SLC16A11_ENST00000447225.1_Silent_p.H244H	p.H268H	NM_153357.1	NP_699188.1	0	1	1	1.721025	Q8NCK7	MOT11_HUMAN		3	1141	-				Silent	SNP	ENST00000308009.1	1	1	hg19	c.804C>T	CCDS11086.1	0																																																																																								0.212880		TCGA-XD-AAUL-01A-21D-A397-08	0.672	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	1	0	1	2	2	2	2	0	0	0	0	13	0	13	13	1	1.880000	-15.407510	1	0.340000	NM_153357		0	7	7	0	30	30	0		1	1		0	0	13	0	0	0.984295	6.112075e-01	0	4	0	6	0	7	30
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	8.200000e-01	1.000000	0.910000	0.980000	0.965763	0.980000	1.000000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	chr17.hg19:g.7578394T>C	ENSP00000269305:p.His179Arg	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	1	1	1.721025	P04637	P53_HUMAN		5	725	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.536A>G	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	0	TP53	7519119	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	0.212880		TCGA-XD-AAUL-01A-21D-A397-08	0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	2	0	0	0	0	95	0	95	93	1	1.880000	-20.000000	1	0.340000	NM_000546		0	63	63	0	216	216	1		1	1	1	0	0	95	902	0	1.000000	9.999010e-01	1	17	145	33	613	63	216
KRT32	3882	broad.mit.edu	37	17	39619177	39619177	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:39619177C>T	ENST00000225899.3	-	6	1225	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	374	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTGGTTCTGCCGCTCCAGGT	0.647																																						ENST00000225899.3	0.160000	2.000000e-02	0.110000	0.030000	0.060000	0.084572	0.060000	0.060000																										0				21						c.(1120-1122)cgG>cgA		keratin 32							78.0	77.0	78.0					17																	39619177		2203	4300	6503	SO:0001819	synonymous_variant	3882	0	0					g.chr17:39619177C>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1122G>A	chr17.hg19:g.39619177C>T		0						p.R374R	NM_002278.3	NP_002269.3	1	2	3	2.052054	Q14532	K1H2_HUMAN		6	1225	-		Breast(137;0.000812)		Silent	SNP	ENST00000225899.3	0	1	hg19	c.1122G>A	CCDS11393.1	0																																																																																								0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.647	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	0	0	1	2	2	2	2	0	0	0	0	146	0	146	145	1	1.880000	-2.440129	0	0.340000	NM_002278		0	5	5	0	460	448	0		1			0	0	146	0	0	0.933466	0	0	0	0	0	0	5	460
TNPO2	30000	broad.mit.edu	37	19	12826533	12826533	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:12826533C>T	ENST00000592287.1	-	5	454	c.346G>A	c.(346-348)Gct>Act	p.A116T	TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A116T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	116					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTTGGAAGCGATGGTGGTG	0.632																																						ENST00000592287.1	1.000000	3.100000e-01	0.850000	0.450000	0.620000	0.647372	0.620000	1.000000																										0				28						c.(346-348)Gct>Act		transportin 2							41.0	47.0	45.0					19																	12826533		2074	4210	6284	SO:0001583	missense	30000	1	121056	34				g.chr19:12826533C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.346G>A	chr19.hg19:g.12826533C>T	ENSP00000468434:p.Ala116Thr	0					TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T	p.A116T	NM_001136196.1	NP_001129668.1	1	2	3	2.054012	O14787	TNPO2_HUMAN		5	454	-			O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	1	1	hg19	c.346G>A	CCDS45991.1	0	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203182	0.58234	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.45	5.45	0.79879	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.050139	0.85682	D	0.000000	T	0.70064	0.3181	M	0.76433	2.335	0.58432	D	0.999999	B;B	0.30482	0.281;0.246	B;B	0.19148	0.024;0.019	T	0.69446	-0.5143	10	0.39692	T	0.17	-24.7164	18.0522	0.89353	0.0:1.0:0.0:0.0	.	280;116	Q4LE60;O14787	.;TNPO2_HUMAN	T	280;116;116;116;116;116;116	ENSP00000407182:A116T;ENSP00000389648:A116T;ENSP00000397379:A116T;ENSP00000349321:A116T	ENSP00000349321:A116T	A	-	1	0	0	TNPO2	12687533	12687533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.330000	0.59266	2.563000	0.86464	0.555000	0.69702	GCT	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	1	0	1	2	2	2	2	0	0	0	0	34	0	34	33	1	1.880000	-15.473470	1	0.340000	NM_013433		0	9	9	0	78	78	1		1	1		0	0	34	0	0	0.995044	9.521771e-01	0	11	0	38	0	9	78
FNDC7	163479	broad.mit.edu	37	1	109270590	109270590	+	Silent	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:109270590G>A	ENST00000370017.3	+	7	1549	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	FNDC7_ENST00000271311.2_Silent_p.S425S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	424	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCACCCTTTCGGCTCTAGAGT	0.483																																						ENST00000370017.3	1.000000	7.000000e-01	0.990000	0.790000	0.880000	0.884760	0.880000	1.000000																										0				20						c.(1270-1272)tcG>tcA		fibronectin type III domain containing 7							242.0	208.0	219.0					1																	109270590		2203	4300	6503	SO:0001819	synonymous_variant	163479	6	121412	42				g.chr1:109270590G>A		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1272G>A	chr1.hg19:g.109270590G>A		0					FNDC7_ENST00000271311.2_Silent_p.S425S	p.S424S	NM_001144937.1	NP_001138409.1	1	2	3	2.057568	Q5VTL7	FNDC7_HUMAN		7	1549	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	1	1	hg19	c.1272G>A	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442051	0.12164	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.73	-11.5	0.00074	5.73	-11.5	0.00074	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56745	-0.7928	4	.	.	.	-10.2511	7.5534	0.27810	0.1:0.0588:0.4515:0.3897	.	.	.	.	S	200	.	.	G	+	1	0	0	FNDC7	109072113	109072113	0.000000	0.05858	0.062000	0.19696	0.789000	0.44602	-3.528000	0.00441	-3.670000	0.00123	-1.036000	0.02392	GGC	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.483	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	1	0	1	2	2	2	2	0	0	0	0	113	0	113	113	1	1.880000	-2.524082	1	0.340000	NM_173532		0	72	71	0	408	406	1		1			0	0	113	0	0	1.000000	0	0	0	0	0	0	72	408
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	rs371992948	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19286	0.001		0.0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000368445.5	0.090000	1.000000e-02	0.070000	0.020000	0.040000	0.052550	0.040000	0.040000																										0				20						c.(736-738)Gca>Aca		SHC (Src homology 2 domain containing) transforming protein 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192.0	202.0	199.0		736,406,271,406,736	5.4	1.0	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464	5	121412	42				g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	chr1.hg19:g.154940985C>T	ENSP00000357430:p.Ala246Thr	0					SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T	p.A246T	NM_183001.4	NP_892113.4	0	1	1	2.039275	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)	4	950	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	0	1	hg19	c.736G>A	CCDS30881.1	0	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	0	SHC1	153207609	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA	0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	0	0	1	2	14	6	2	1	0	1	1	307	0	307	305	1	1.880000	-1.824562	0	0.340000	NM_183001		0	9	9	0	1107	1096	0		0	0		1	0	307	0	0	0.193907	7.383232e-02	0	0	0	296	0	9	1107
RXRG	6258	broad.mit.edu	37	1	165376097	165376097	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:165376097G>A	ENST00000359842.5	-	9	1498	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	399	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CTCAAGGGTGGCATAAACCTT	0.522																																						ENST00000359842.5	0.190000	2.000000e-02	0.140000	0.050000	0.080000	0.097682	0.080000	0.080000																										0				38						c.(1195-1197)gCc>gTc		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)						187.0	148.0	161.0					1																	165376097		2203	4300	6503	SO:0001583	missense	6258	0	0					g.chr1:165376097G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1196C>T	chr1.hg19:g.165376097G>A	ENSP00000352900:p.Ala399Val	0						p.A399V	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	1	2	3	2.045081	P48443	RXRG_HUMAN		9	1498	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	0	1	hg19	c.1196C>T	CCDS1248.1	0	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869333	0.91587	.	.	ENSG00000143171	ENST00000359842	D	0.96802	-4.13	4.24	4.24	0.50183	4.24	4.24	0.50183	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	L	0.50847	1.595	0.80722	D	1.000000	D	0.76494	0.999	D	0.76575	0.988	D	0.95762	0.8801	9	0.38643	T	0.18	.	15.7167	0.77672	0.0:0.0:1.0:0.0	.	399	P48443	RXRG_HUMAN	V	399	ENSP00000352900:A399V	ENSP00000352900:A399V	A	-	2	0	0	RXRG	163642721	163642721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.336000	0.96533	2.332000	0.79248	0.563000	0.77884	GCC	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.522	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	0	0	1	2	2	2	2	0	0	0	0	93	0	93	92	1	1.880000	-2.140102	0	0.340000	NM_006917		0	5	5	0	353	353	0		1	0		0	0	93	0	0	0.937961	9.552450e-04	0	0	0	3	0	5	353
PTPN14	5784	broad.mit.edu	37	1	214557484	214557484	+	Missense_Mutation	SNP	G	G	A	rs200947677		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:214557484G>A	ENST00000366956.5	-	13	1908	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	572	Poly-Pro.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTCGTGGCCGTGGGTAGGGG	0.652																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5	1.000000	8.700000e-01	1.000000	0.980000	0.990000	0.988569	0.990000	1.000000																										0				58						c.(1714-1716)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 14		G	TRP/ARG	0,4406		0,0,2203	42.0	46.0	45.0		1714	4.7	0.9	1		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN14	NM_005401.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	572/1188	214557484	1,13005	2203	4300	6503	SO:0001583	missense	5784	4	121296	39				g.chr1:214557484G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1714C>T	chr1.hg19:g.214557484G>A	ENSP00000355923:p.Arg572Trp	0					PTPN14_ENST00000543945.1_3'UTR	p.R572W	NM_005401.4	NP_005392.2	0	1	1	2.039647	Q15678	PTN14_HUMAN		13	1908	-			Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	1	1	hg19	c.1714C>T	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850976	0.71719	0.0	1.16E-4	ENSG00000152104	ENST00000366956	T	0.68765	-0.35	5.61	4.68	0.58851	5.61	4.68	0.58851	.	0.194784	0.45606	D	0.000350	T	0.72162	0.3426	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.56434	0.798	T	0.72200	-0.4362	10	0.38643	T	0.18	.	16.3998	0.83635	0.0:0.0:0.8676:0.1324	.	572	Q15678	PTN14_HUMAN	W	572	ENSP00000355923:R572W	ENSP00000355923:R572W	R	-	1	2	2	PTPN14	212624107	212624107	0.883000	0.30277	0.857000	0.33713	0.992000	0.81027	3.487000	0.53222	1.482000	0.48325	0.650000	0.86243	CGG	0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.652	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	1	0	1	2	2	2	2	0	0	0	0	75	0	75	73	1	1.880000	-3.515253	1	0.340000	NM_005401		0	57	57	0	242	238	1		1	1		0	0	75	0	0	1.000000	5.386757e-01	0	2	0	7	0	57	242
TAF5L	27097	broad.mit.edu	37	1	229730353	229730353	+	Silent	SNP	G	G	A	rs191870723		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:229730353G>A	ENST00000366676.1	-	4	1460	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	TAF5L_ENST00000258281.2_Silent_p.G487G			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	487					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTGGTCCTCGCCAGCAGACG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.001		0.0	False		,,,				2504	0.0					ENST00000366676.1	0.140000	2.000000e-02	0.100000	0.040000	0.060000	0.075726	0.060000	0.060000																										0				11						c.(1459-1461)ggC>ggT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa		G		0,4406		0,0,2203	70.0	73.0	72.0		1461	-3.2	0.9	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAF5L	NM_014409.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		487/590	229730353	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27097	1	121412	29				g.chr1:229730353G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1461C>T	chr1.hg19:g.229730353G>A		0					TAF5L_ENST00000258281.2_Silent_p.G487G	p.G487G			0	1	1	2.039647	O75529	TAF5L_HUMAN		4	1460	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	0	1	hg19	c.1461C>T	CCDS1581.1	0																																																																																								0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.577	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	0	0	1	2	2	2	2	0	0	0	0	136	0	136	133	1	1.880000	-2.663731	1	0.340000	NM_014409		0	6	6	0	533	528	0		1	0		0	0	136	0	0	0.964124	8.000068e-02	0	0	0	35	0	6	533
GPATCH3	63906	broad.mit.edu	37	1	27220874	27220874	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:27220874G>A	ENST00000361720.5	-	3	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	302	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTCATGCCGTTCCCATTCC	0.602																																						ENST00000361720.5	0.150000	2.000000e-02	0.110000	0.040000	0.060000	0.084888	0.060000	0.060000																										0				15						c.(904-906)Cgg>Tgg		G patch domain containing 3							167.0	141.0	150.0					1																	27220874		2203	4300	6503	SO:0001583	missense	63906	0	0					g.chr1:27220874G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.904C>T	chr1.hg19:g.27220874G>A	ENSP00000354645:p.Arg302Trp	0						p.R302W	NM_022078.2	NP_071361.2	1	2	3	2.057568	Q96I76	GPTC3_HUMAN		3	927	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	0	1	hg19	c.904C>T	CCDS290.1	0	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152813	0.78001	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.56776	0.44	4.57	4.57	0.56435	4.57	4.57	0.56435	.	0.073564	0.56097	D	0.000023	T	0.73187	0.3555	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77534	-0.2552	10	0.87932	D	0	-19.9713	11.608	0.51043	0.0:0.0:0.6939:0.3061	.	302	Q96I76	GPTC3_HUMAN	W	302;284;113	ENSP00000354645:R302W	ENSP00000354645:R302W	R	-	1	2	2	GPATCH3	27093461	27093461	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.637000	0.46553	2.363000	0.80096	0.563000	0.77884	CGG	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.602	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	0	0	1	2	2	2	2	0	0	0	0	169	0	169	164	1	1.880000	-2.239679	0	0.340000	NM_022078		0	6	6	0	535	531	0		1	0		0	0	169	0	0	0.964128	1.980680e-01	0	0	0	63	0	6	535
FUBP1	8880	broad.mit.edu	37	1	78430650	78430650	+	Silent	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:78430650G>T	ENST00000370768.2	-	9	721	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	FUBP1_ENST00000436586.2_Silent_p.R235R|FUBP1_ENST00000370767.1_Silent_p.R214R	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	214	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACTCCAGCCCGTTCCTGTTAC	0.358			"""F, N"""		oligodendroglioma																																	ENST00000370768.2	0.500000	2.300000e-01	0.420000	0.280000	0.340000	0.357041	0.340000	0.340000				Rec	yes			Rec	yes		1	1p13.1	1p13.1	8880	F, N	far upstream element (FUSE) binding protein 1				O	O			oligodendroglioma		0				17						c.(640-642)Cgg>Agg		far upstream element (FUSE) binding protein 1							73.0	79.0	77.0					1																	78430650		2203	4300	6503	SO:0001819	synonymous_variant	8880	0	0					g.chr1:78430650G>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.640C>A	chr1.hg19:g.78430650G>T		0					FUBP1_ENST00000436586.2_Silent_p.R235R|FUBP1_ENST00000370767.1_Silent_p.R214R	p.R214R	NM_003902.3	NP_003893.2	1	2	3	2.057568	Q96AE4	FUBP1_HUMAN		9	721	-			Q12828	Silent	SNP	ENST00000370768.2	1	1	hg19	c.640C>A	CCDS683.1	0																																																																																								0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.358	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	1	0	1	2	2	2	2	0	0	0	0	127	0	127	127	1	1.880000	-6.291676	1	0.340000	NM_003902		0	29	29	0	472	468	0		1	1		0	0	127	0	0	1.000000	9.940525e-01	0	14	0	117	0	29	472
COL24A1	255631	broad.mit.edu	37	1	86590618	86590618	+	Silent	SNP	A	A	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:86590618A>C	ENST00000370571.2	-	3	1767	c.1401T>G	c.(1399-1401)acT>acG	p.T467T	COL24A1_ENST00000436319.1_Silent_p.T467T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	467					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATAAAGCTCAGTTTCATAGC	0.373																																						ENST00000370571.2	0.210000	3.000000e-02	0.150000	0.060000	0.090000	0.116078	0.090000	0.100000																										0				101						c.(1399-1401)acT>acG		collagen, type XXIV, alpha 1							76.0	68.0	71.0					1																	86590618		1826	4083	5909	SO:0001819	synonymous_variant	255631	0	0					g.chr1:86590618A>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1401T>G	chr1.hg19:g.86590618A>C		0					COL24A1_ENST00000436319.1_Silent_p.T467T	p.T467T	NM_152890.5	NP_690850.2	1	2	3	2.057568	Q17RW2	COOA1_HUMAN		3	1767	-			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	0	1	hg19	c.1401T>G	CCDS41353.1	0																																																																																								0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.373	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	0	0	1	2	2	2	2	0	0	0	0	76	0	76	76	1	1.880000	-6.400506	1	0.340000	NM_152890		0	6	6	0	375	374	0		1			0	0	76	0	0	0.964990	0	0	0	0	0	0	6	375
OR2C3	81472	broad.mit.edu	37	1	247695055	247695055	+	Silent	SNP	G	G	A	rs529863004		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGCTCCCGTAAAACAGAG	0.547																																						ENST00000366487.3	0.180000	2.000000e-02	0.140000	0.050000	0.080000	0.098708	0.080000	0.080000																										0				43						c.(757-759)taC>taT		olfactory receptor, family 2, subfamily C, member 3							121.0	109.0	113.0					1																	247695055		2203	4300	6503	SO:0001819	synonymous_variant	81472	1	121412	42				g.chr1:247695055G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.759C>T	chr1.hg19:g.247695055G>A		0					GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	p.Y253Y	NM_198074.4	NP_932340	0	1	1	2.039647	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)	2	1120	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	0	1	hg19	c.759C>T	CCDS1634.2	0																																																																																								0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	0	0	1	2	16	2	2	1	0	1	1	79	0	79	78	1	1.880000	-2.967221	1	0.340000	NM_198074		0	5	5	0	348	347	0		0			1	0	79	0	0	0.011809	0	0	0	0	0	0	5	348
PANK2	80025	broad.mit.edu	37	20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr20:3899375C>T	ENST00000316562.4	+	6	1600	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	PANK2_ENST00000497424.1_Missense_Mutation_p.R241W|PANK2_ENST00000610179.1_Missense_Mutation_p.R409W|MIR103A2_ENST00000362154.1_RNA	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	532			R -> W (in NBIA1). {ECO:0000269|PubMed:12510040}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATCGCCATGCGGCTTTTGGC	0.388																																						ENST00000316562.4	0.110000	1.000000e-02	0.080000	0.030000	0.050000	0.066339	0.050000	0.050000																										0				15	GRCh37	CM033434	PANK2	M		c.(1594-1596)Cgg>Tgg		pantothenate kinase 2							201.0	198.0	199.0					20																	3899375		2203	4300	6503	SO:0001583	missense	80025	0	0					g.chr20:3899375C>T	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1594C>T	chr20.hg19:g.3899375C>T	ENSP00000313377:p.Arg532Trp	0					PANK2_ENST00000497424.1_Missense_Mutation_p.R241W|MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.R409W	p.R532W	NM_153638.2	NP_705902.2	1	2	3	2.058330	Q9BZ23	PANK2_HUMAN		6	1600	+			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	0	1	hg19	c.1594C>T	CCDS13071.2	0	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167626	0.78339	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99537	-6.11;-6.11	5.12	1.89	0.25635	5.12	1.89	0.25635	.	0.058340	0.64402	D	0.000003	D	0.99083	0.9685	L	0.46819	1.47	0.36196	D	0.850384	D	0.89917	1.0	D	0.77557	0.99	D	0.99414	1.0931	10	0.87932	D	0	.	5.9846	0.19426	0.4537:0.4539:0.0:0.0925	.	532	Q9BZ23	PANK2_HUMAN	W	241;532;348	ENSP00000417609:R241W;ENSP00000313377:R532W	ENSP00000313377:R532W	R	+	1	2	2	PANK2	3847375	3847375	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.670000	0.74467	0.735000	0.32537	0.655000	0.94253	CGG	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.388	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	0	0	1	2	13	2	2	0	0	0	1	238	0	238	238	1	1.880000	-1.860360	0	0.340000	NM_024960		0	7	6	0	817	812	0		0	0		0	0	238	0	0	0.126075	1.356132e-01	0	0	0	65	0	7	817
RIMBP3	85376	broad.mit.edu	37	22	20457064	20457064	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:20457064C>T	ENST00000426804.1	-	1	4722	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1413										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCTCTTCACCCCCAGAGCTTG	0.632																																						ENST00000426804.1	1.000000	6.600000e-01	1.000000	0.890000	0.990000	0.958200	0.990000	1.000000																										0				13						c.(4237-4239)gGg>gAg		RIMS binding protein 3							5.0	7.0	6.0					22																	20457064		1076	2880	3956	SO:0001583	missense	85376	0	0					g.chr22:20457064C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4238G>A	chr22.hg19:g.20457064C>T	ENSP00000391564:p.Gly1413Glu	0					SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	p.G1413E	NM_015672.1	NP_056487.1	2	2	4	2.147644	Q9UFD9	RIM3A_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)	1	4722	-	Colorectal(54;0.0993)|Melanoma(16;0.165)		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	0	1	hg19	c.4238G>A	CCDS46665.1	1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515436	0.44763	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17054	2.3	3.58	2.51	0.30379	3.58	2.51	0.30379	.	1.948520	0.02516	N	0.092008	T	0.22399	0.0540	L	0.52573	1.65	0.09310	N	1	D	0.54047	0.964	B	0.44224	0.444	T	0.24368	-1.0162	10	0.66056	D	0.02	-6.4639	8.1334	0.31039	0.2404:0.7596:0.0:0.0	.	1319	Q9UFD9	RIM3A_HUMAN	E	1319;1413	ENSP00000391564:G1413E	ENSP00000347318:G1319E	G	-	2	0	0	RIMBP3	18837064	18837064	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.054000	0.14205	0.805000	0.34159	0.423000	0.28283	GGG	0.374052		TCGA-XD-AAUL-01A-21D-A397-08	0.632	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	0	0	1	2	2	2	2	0	0	0	0	15	0	15	30	1	1.880000	-19.999880	1	0.340000	NM_015672		0	13	5	0	59	24	0		1	0		0	0	15	0	0	0.965093	3.783784e-02	0	0	0	2	0	13	59
TTLL8	164714	broad.mit.edu	37	22	50472798	50472798	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:50472798A>G	ENST00000266182.6	-	9	1014	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	359	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGGCCCCGGGACTTGGCCGCG	0.607																																						ENST00000266182.6	1.000000	7.600000e-01	0.980000	0.850000	0.920000	0.919433	0.920000	0.990000																										0				12						c.(1015-1017)Tcc>Ccc		tubulin tyrosine ligase-like family, member 8							39.0	43.0	42.0					22																	50472798		1916	4110	6026	SO:0001583	missense	164714	0	0					g.chr22:50472798A>G			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1015T>C	chr22.hg19:g.50472798A>G	ENSP00000266182:p.Ser339Pro	1					TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P	p.S339P			0	1	1	1.711071	A6PVC2	TTLL8_HUMAN		9	1014	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	1	1	hg19	c.1015T>C		1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271331	0.59649	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.06608	3.28;3.28;3.28	4.61	4.61	0.57282	4.61	4.61	0.57282	.	0.136701	0.51477	D	0.000092	T	0.34424	0.0897	H	0.94385	3.53	0.37158	D	0.902473	D	0.89917	1.0	D	0.91635	0.999	T	0.57201	-0.7852	10	0.87932	D	0	.	13.2755	0.60184	1.0:0.0:0.0:0.0	.	339	B5MDV0	.	P	339;323;359	ENSP00000266182:S339P;ENSP00000387509:S323P;ENSP00000392252:S359P	ENSP00000266182:S339P	S	-	1	0	0	TTLL8	48814925	48814925	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.401000	0.73256	1.836000	0.53414	0.459000	0.35465	TCC	0.204819		TCGA-XD-AAUL-01A-21D-A397-08	0.607	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	101	0	101	101	1	1.880000	-20.000000	1	0.340000	NM_001080447		0	59	58	0	222	219	1		1			0	0	101	0	0	1.000000	0	0	0	0	0	0	59	222
TTN	7273	broad.mit.edu	37	2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A	rs374430623		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:179585746G>A	ENST00000591111.1	-	77	22273	c.22049C>T	c.(22048-22050)aCg>aTg	p.T7350M	TTN_ENST00000589042.1_Missense_Mutation_p.T7667M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12913	Ig-like 55.				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)			TTCATTGATCGTAAGCAATGC	0.453																																						ENST00000591111.1	0.120000	2.000000e-02	0.090000	0.030000	0.060000	0.069328	0.060000	0.060000																										0				1448						c.(22048-22050)aCg>aTg		titin		G	MET/THR,,,	0,3976		0,0,1988	109.0	108.0	109.0		19268,,,	6.2	1.0	2		109	1,8369		0,1,4184	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	81,,,	0,1,6172	AA,AG,GG		0.0119,0.0,0.0081	probably-damaging,,,	6423/33424,,,	179585746	1,12345	1988	4185	6173	SO:0001583	missense	7273	1	120908	39				g.chr2:179585746G>A	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.22049C>T	chr2.hg19:g.179585746G>A	ENSP00000465570:p.Thr7350Met	0					RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T7667M|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.T7350M			0	0	0	2.015620	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	77	22273	-			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	0	1	hg19	c.22049C>T		0	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555764	0.27827	0.0	1.19E-4	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	6.16	6.16	0.99307	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73598	0.3607	L	0.58302	1.8	0.80722	D	1	D	0.64830	0.994	P	0.58577	0.841	T	0.75402	-0.3330	9	0.87932	D	0	.	9.8046	0.40786	0.069:0.0:0.7906:0.1404	.	7350	Q8WZ42	TITIN_HUMAN	M	6423	ENSP00000343764:T6423M	ENSP00000343764:T6423M	T	-	2	0	0	TTN	179293991	179293991	0.900000	0.30661	0.994000	0.49952	0.904000	0.53231	3.281000	0.51685	2.937000	0.99478	0.650000	0.86243	ACG	0.330900		TCGA-XD-AAUL-01A-21D-A397-08	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	2	17	2	2	1	0	1	1	122	0	122	121	1	1.880000	-2.593289	1	0.340000	NM_133378		0	6	6	0	576	573	0		0			1	0	122	0	0	0.015802	0	0	0	0	0	0	6	576
SGOL2	151246	broad.mit.edu	37	2	201437658	201437658	+	Silent	SNP	A	A	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:201437658A>G	ENST00000357799.4	+	7	2687	c.2589A>G	c.(2587-2589)caA>caG	p.Q863Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	863					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.Q863H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATGAATTTCAAACAGTTGATC	0.318																																						ENST00000357799.4	0.260000	9.000000e-02	0.220000	0.120000	0.160000	0.173363	0.160000	0.160000																										1	Substitution - Missense(1)	p.Q863H(1)	lung(1)	46						c.(2587-2589)caA>caG		shugoshin-like 2 (S. pombe)							84.0	83.0	83.0					2																	201437658		1801	4063	5864	SO:0001819	synonymous_variant	151246	5	120766	41				g.chr2:201437658A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2589A>G	chr2.hg19:g.201437658A>G		0						p.Q863Q	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	0	0	0	2.015620	Q562F6	SGOL2_HUMAN		7	2687	+			Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	1	1	hg19	c.2589A>G	CCDS42796.1	0																																																																																								0.330900		TCGA-XD-AAUL-01A-21D-A397-08	0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	0	1	2	2	2	2	0	0	0	0	103	0	103	102	1	1.880000	-12.977720	1	0.340000	NM_152524		0	14	14	0	484	480	0		1	0		0	0	103	0	0	0.999746	1.796690e-02	0	0	0	7	0	14	484
MAP2	4133	broad.mit.edu	37	2	210560818	210560818	+	Silent	SNP	C	C	T	rs368301391		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:210560818C>T	ENST00000360351.4	+	7	4430	c.3924C>T	c.(3922-3924)agC>agT	p.S1308S	MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1308					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGTCCCACAGCGTGCGTTTTG	0.507																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4	1.000000	6.500000e-01	0.960000	0.740000	0.840000	0.853555	0.840000	1.000000																										0				124						c.(3922-3924)agC>agT		microtubule-associated protein 2	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	C	,,,	0,4406		0,0,2203	113.0	113.0	113.0		,3924,,	-6.7	0.8	2		113	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,1308/1828,,	210560818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4133	1	121410	37				g.chr2:210560818C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3924C>T	chr2.hg19:g.210560818C>T		0					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.S1308S	NM_002374.3	NP_002365.3	0	0	0	2.015620	P11137	MTAP2_HUMAN		7	4430	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	1	1	hg19	c.3924C>T	CCDS2384.1	0																																																																																								0.330900		TCGA-XD-AAUL-01A-21D-A397-08	0.507	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	1	0	1	2	2	2	2	0	0	0	0	105	0	105	105	1	1.880000	-3.320516	1	0.340000	NM_001039538		0	57	56	0	331	330	1		1	0		0	0	105	0	0	1.000000	0	0	0	0	1	0	57	331
USP37	57695	broad.mit.edu	37	2	219321859	219321859	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:219321859C>A	ENST00000258399.3	-	24	3081	c.2669G>T	c.(2668-2670)cGg>cTg	p.R890L	USP37_ENST00000418019.1_Missense_Mutation_p.R890L|USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	890	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ACTGATGAGCCGGTACGAATG	0.353																																						ENST00000258399.3	0.410000	6.000000e-02	0.300000	0.110000	0.190000	0.214791	0.190000	0.170000																										0				35						c.(2668-2670)cGg>cTg		ubiquitin specific peptidase 37							97.0	87.0	90.0					2																	219321859		2203	4300	6503	SO:0001583	missense	57695	0	0					g.chr2:219321859C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2669G>T	chr2.hg19:g.219321859C>A	ENSP00000258399:p.Arg890Leu	0					USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L	p.R890L	NM_020935.2	NP_065986	0	0	0	2.015620	Q86T82	UBP37_HUMAN		24	3081	-		Renal(207;0.0915)	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	0	1	hg19	c.2669G>T	CCDS2418.1	0	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562263	0.86335	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.52	4.52	0.55395	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	M	0.68317	2.08	0.80722	D	1	B;B	0.25904	0.112;0.137	B;B	0.26094	0.039;0.066	T	0.39643	-0.9604	10	0.87932	D	0	-8.6172	17.4426	0.87569	0.0:1.0:0.0:0.0	.	796;890	Q86T82-2;Q86T82	.;UBP37_HUMAN	L	890;890;796;890	ENSP00000258399:R890L;ENSP00000393662:R890L;ENSP00000400902:R796L;ENSP00000396585:R890L	ENSP00000258399:R890L	R	-	2	0	0	USP37	219030103	219030103	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.827000	0.69300	2.327000	0.79052	0.655000	0.94253	CGG	0.330900		TCGA-XD-AAUL-01A-21D-A397-08	0.353	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	0	0	1	2	2	2	2	0	0	0	0	33	0	33	33	1	1.880000	-2.893871	1	0.340000	NM_020935		0	4	4	0	127	126	0		1	0		0	0	33	0	0	0.889737	4.875373e-03	0	0	0	3	0	4	127
DNMT3A	1788	broad.mit.edu	37	2	25505406	25505406	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:25505406C>T	ENST00000264709.3	-	4	689	c.352G>A	c.(352-354)Gga>Aga	p.G118R	DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	118					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCCTCTCCCTCTGCTGGG	0.657			"""Mis, F, N, S"""		AML																																	ENST00000264709.3	0.220000	3.000000e-02	0.160000	0.060000	0.100000	0.115558	0.100000	0.100000				Rec	yes			Rec	yes		2	2p23	2p23	1788	Mis, F, N, S	DNA (cytosine-5-)-methyltransferase 3 alpha				L	L			AML		0				1021						c.(352-354)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 alpha							33.0	38.0	36.0					2																	25505406		2202	4299	6501	SO:0001583	missense	1788	0	0					g.chr2:25505406C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.352G>A	chr2.hg19:g.25505406C>T	ENSP00000264709:p.Gly118Arg	0					DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R	p.G118R	NM_175629.2	NP_783328.1	1	2	3	2.042220	Q9Y6K1	DNM3A_HUMAN		4	689	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	0	1	hg19	c.352G>A	CCDS33157.1	0	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669794	0.67814	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.93712	-3.27;-3.27	4.91	3.07	0.35406	4.91	3.07	0.35406	.	0.000000	0.42964	D	0.000639	D	0.84524	0.5491	N	0.14661	0.345	0.33870	D	0.634862	B;B	0.23735	0.09;0.001	B;B	0.23419	0.046;0.0	T	0.82859	-0.0249	10	0.62326	D	0.03	-5.5202	5.9618	0.19303	0.0:0.7014:0.1958:0.1028	.	118;118	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	R	118	ENSP00000324375:G118R;ENSP00000264709:G118R	ENSP00000264709:G118R	G	-	1	0	0	DNMT3A	25358910	25358910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.020000	0.41010	1.046000	0.40249	0.563000	0.77884	GGA	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	0	0	1	2	2	2	2	0	0	0	0	78	0	78	76	1	1.880000	-3.843331	1	0.340000	NM_022552		0	5	6	0	297	295	0		1	0		0	0	78	0	0	0.937504	8.719054e-03	0	0	0	7	0	5	297
DYSF	8291	broad.mit.edu	37	2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547																																						ENST00000258104.3	0.220000	2.000000e-02	0.160000	0.050000	0.090000	0.109128	0.090000	0.090000																										0				111						c.(5791-5793)cGc>cAc		dysferlin							117.0	107.0	111.0					2																	71906211		2203	4300	6503	SO:0001583	missense	8291	0	0					g.chr2:71906211G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5792G>A	chr2.hg19:g.71906211G>A	ENSP00000258104:p.Arg1931His	0					DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H	p.R1931H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	1	2	3	2.042220	O75923	DYSF_HUMAN		52	6069	+			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	0	1	hg19	c.5792G>A	CCDS1918.1	0	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102291	0.20632	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.28	-7.9	0.01169	5.28	-7.9	0.01169	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.552015	0.21044	N	0.081119	T	0.49029	0.1533	N	0.21373	0.66	0.30778	N	0.742287	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.001;0.0;0.0;0.0;0.001;0.003;0.001;0.0;0.001;0.003;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.002;0.005;0.005;0.005;0.002;0.003;0.005;0.002;0.005;0.002;0.002;0.005;0.005;0.002	T	0.09618	-1.0666	10	0.20046	T	0.44	-2.9078	15.6058	0.76668	0.6902:0.0:0.3098:0.0	.	695;1963;1970;1953;1918;1949;1939;1948;1938;1962;1969;1952;1917;1932;1931	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1962;1948;1969;1952;1931;1963;1932;1939;1953;1970;1949	ENSP00000407046:R1962H;ENSP00000387137:R1948H;ENSP00000386547:R1969H;ENSP00000398305:R1952H;ENSP00000258104:R1931H;ENSP00000386683:R1963H;ENSP00000377678:R1932H;ENSP00000386285:R1939H;ENSP00000386512:R1953H;ENSP00000386881:R1970H;ENSP00000386617:R1949H	ENSP00000258104:R1931H	R	+	2	0	0	DYSF	71759719	71759719	0.012000	0.17670	0.251000	0.24312	0.982000	0.71751	-0.679000	0.05203	-2.260000	0.00692	-0.897000	0.02905	CGC	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.547	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	0	1	2	2	2	2	0	0	0	0	67	0	67	66	1	1.880000	-2.728886	1	0.340000	NM_003494		0	4	4	0	262	260	0		1	0		0	0	67	0	0	0.889293	5.462954e-01	0	0	0	106	0	4	262
TRIP12	9320	broad.mit.edu	37	2	230724186	230724186	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:230724186T>G	ENST00000283943.5	-	3	381	c.203A>C	c.(202-204)aAt>aCt	p.N68T	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	68					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCCTCGAGAATTGTCTTTCTT	0.463																																						ENST00000283943.5	1.000000	7.200000e-01	0.960000	0.790000	0.870000	0.876208	0.870000	1.000000																										0				87						c.(202-204)aAt>aCt		thyroid hormone receptor interactor 12							181.0	185.0	184.0					2																	230724186		2203	4300	6503	SO:0001583	missense	9320	0	0					g.chr2:230724186T>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.203A>C	chr2.hg19:g.230724186T>G	ENSP00000283943:p.Asn68Thr	0					TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T	p.N68T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	0	0	0	2.015620	Q14669	TRIPC_HUMAN		3	381	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	1	1	hg19	c.203A>C	CCDS33391.1	1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663864	0.29515	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.43294	0.95;0.95	5.72	-0.261	0.12963	5.72	-0.261	0.12963	.	0.285942	0.41500	D	0.000862	T	0.18383	0.0441	N	0.03608	-0.345	0.30514	N	0.769153	B;B;B	0.12013	0.001;0.005;0.0	B;B;B	0.10450	0.001;0.005;0.0	T	0.13150	-1.0520	10	0.33141	T	0.24	.	11.6681	0.51385	0.0:0.2442:0.0:0.7558	.	68;110;68	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	68;110;110;110;68;68;110;68	ENSP00000283943:N68T;ENSP00000373696:N110T	ENSP00000283943:N68T	N	-	2	0	0	TRIP12	230432430	230432430	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.262000	0.32992	0.060000	0.16281	0.460000	0.39030	AAT	0.330900		TCGA-XD-AAUL-01A-21D-A397-08	0.463	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	1	0	1	2	2	2	2	0	0	0	0	163	0	163	162	1	1.880000	-20.000000	1	0.340000	NM_004238		0	102	102	0	574	569	1		1	1		0	0	163	0	0	1.000000	9.924866e-01	0	12	0	32	0	102	574
COL6A5	256076	broad.mit.edu	37	3	130189737	130189737	+	Silent	SNP	C	C	T	rs145645992		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:130189737C>T	ENST00000432398.2	+	39	7994	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	COL6A5_ENST00000265379.6_Silent_p.T2500T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2500	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATATCCCACCGAAGATATGA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		17835	0.001		0.0	False		,,,				2504	0.0					ENST00000432398.2	1.000000	7.700000e-01	1.000000	0.920000	0.990000	0.971924	0.990000	1.000000																										0				44						c.(7498-7500)acC>acT		collagen, type VI, alpha 5							82.0	80.0	80.0					3																	130189737		1890	4124	6014	SO:0001819	synonymous_variant	256076	3	120792	39				g.chr3:130189737C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7500C>T	chr3.hg19:g.130189737C>T		0					COL6A5_ENST00000265379.6_Silent_p.T2500T	p.T2500T	NM_153264.5	NP_694996.5	1	2	3	2.042405	A8TX70	CO6A5_HUMAN		39	7994	+			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	1	1	hg19	c.7500C>T		1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.935	-0.444990	0.04604	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.35	-5.88	0.02290	5.35	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1187	0.03720	0.3297:0.4103:0.11:0.15	.	.	.	.	X	752	.	.	R	+	1	2	2	COL6A5	131672427	131672427	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-1.103000	0.03329	-0.753000	0.04721	0.655000	0.94253	CGA	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.433	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	37	0	37	37	1	1.880000	-3.355193	1	0.340000	NM_153264		0	28	28	0	121	119	1		1	0		0	0	37	0	0	1.000000	0	0	0	0	1	0	28	121
CNTN4	152330	broad.mit.edu	37	3	3078896	3078896	+	Missense_Mutation	SNP	C	C	T	rs151038163		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:3078896C>T	ENST00000397461.1	+	17	2360	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	659	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACATTCACAGCGACCGTGGTG	0.498																																						ENST00000397461.1	0.980000	7.000000e-01	0.910000	0.760000	0.830000	0.839716	0.830000	0.840000																										0				61						c.(1975-1977)gCg>gTg		contactin 4		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	149.0	148.0	149.0		1976,989,1976,992	5.5	0.9	3	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	64,64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	659/1027,330/698,659/1027,331/699	3078896	2,13004	2203	4300	6503	SO:0001583	missense	152330	13	121412	46				g.chr3:3078896C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1976C>T	chr3.hg19:g.3078896C>T	ENSP00000380602:p.Ala659Val	0					CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4-AS1_ENST00000442749.2_RNA	p.A659V	NM_001206955.1	NP_001193884.1	1	2	3	2.042405	Q8IWV2	CNTN4_HUMAN		17	2360	+		Ovarian(110;0.156)	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	1	1	hg19	c.1976C>T	CCDS43041.1	0	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630223	0.67015	0.0	2.33E-4	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.48	5.48	0.80851	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.99;0.996;0.999	P;P;D	0.66084	0.794;0.842;0.941	T	0.78974	-0.1992	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	658;659;659	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	659;659;659;440;331;331	ENSP00000396010:A659V;ENSP00000380602:A659V;ENSP00000413642:A659V;ENSP00000351267:A440V;ENSP00000380600:A331V;ENSP00000392077:A331V	ENSP00000351267:A440V	A	+	2	0	0	CNTN4	3053896	3053896	1.000000	0.71417	0.886000	0.34754	0.119000	0.20118	5.923000	0.70045	2.572000	0.86782	0.655000	0.94253	GCG	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.498	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	1	2	2	2	2	0	0	0	0	285	0	285	284	1	1.880000	-20.000000	1	0.340000			0	132	132	0	797	793	1		1	0		0	0	285	0	0	1.000000	4.792460e-01	0	0	0	11	0	132	797
SETD5	55209	broad.mit.edu	37	3	9490247	9490247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:9490247C>A	ENST00000406341.1	+	15	2469	c.2279C>A	c.(2278-2280)tCa>tAa	p.S760*	SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000402466.1_Nonsense_Mutation_p.S662*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	760										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CGCTTTGGCTCACCCTTTATC	0.483																																						ENST00000406341.1	1.000000	5.000000e-01	0.920000	0.620000	0.760000	0.771524	0.760000	1.000000																										0				47						c.(2278-2280)tCa>tAa		SET domain containing 5							100.0	96.0	97.0					3																	9490247		1944	4154	6098	SO:0001587	stop_gained	55209	0	0					g.chr3:9490247C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2279C>A	chr3.hg19:g.9490247C>A	ENSP00000383939:p.Ser760*	0					SETD5_ENST00000402466.1_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*	p.S760*			1	2	3	2.042405	Q9C0A6	SETD5_HUMAN		15	2469	+	Medulloblastoma(99;0.227)		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	0	1	hg19	c.2279C>A	CCDS46741.1	0	.	.	.	.	.	.	.	.	.	.	C	47	13.671043	0.99756	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.	.	.	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0268	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	760;662;760;779;662	.	ENSP00000302028:S662X	S	+	2	0	0	SETD5	9465247	9465247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCA	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.483	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1	2	2	2	2	0	0	0	0	29	0	29	29	1	1.880000	-12.076030	1	0.340000	XM_371614		0	23	23	0	155	151	1		1	1		0	0	29	0	0	1.000000	9.978920e-01	0	15	0	54	0	23	155
TGM4	7047	broad.mit.edu	37	3	44943132	44943132	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:44943132C>A	ENST00000296125.4	+	7	842	c.774C>A	c.(772-774)aaC>aaA	p.N258K	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	258					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTACTACAACACGAAGCAGG	0.597																																						ENST00000296125.4	1.000000	6.500000e-01	1.000000	0.780000	0.930000	0.906965	0.930000	1.000000																										0				38						c.(772-774)aaC>aaA		transglutaminase 4	L-Glutamine(DB00130)						125.0	116.0	119.0					3																	44943132		2203	4300	6503	SO:0001583	missense	7047	0	0					g.chr3:44943132C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.774C>A	chr3.hg19:g.44943132C>A	ENSP00000296125:p.Asn258Lys	0					RP11-272D20.2_ENST00000427258.1_RNA	p.N258K	NM_003241.3	NP_003232.2	1	2	3	2.042405	P49221	TGM4_HUMAN		7	842	+			Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	1	1	hg19	c.774C>A	CCDS2723.1	1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.652828	0.00785	.	.	ENSG00000163810	ENST00000296125	T	0.47177	0.85	2.69	0.475	0.16774	2.69	0.475	0.16774	Transglutaminase-like (1);	3.486220	0.04860	U	0.443878	T	0.13713	0.0332	N	0.00879	-1.12	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36696	-0.9737	10	0.02654	T	1	.	1.8406	0.03149	0.2425:0.2526:0.3829:0.122	.	258	P49221	TGM4_HUMAN	K	258	ENSP00000296125:N258K	ENSP00000296125:N258K	N	+	3	2	2	TGM4	44918136	44918136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.024000	0.12435	0.409000	0.25649	0.563000	0.77884	AAC	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.597	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	1	0	1	2	2	2	2	0	0	0	0	39	0	39	39	1	1.880000	-20.000000	1	0.340000	NM_003241		0	30	30	0	159	158	1		1			0	0	39	0	0	1.000000	0	0	0	0	0	0	30	159
ACTR8	93973	broad.mit.edu	37	3	53906488	53906488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:53906488G>A	ENST00000335754.3	-	10	1325	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	409					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GATCTGTGCTGCAAAGTCGTC	0.463																																						ENST00000335754.3	0.080000	0	0.060000	0.010000	0.030000	0.042854	0.030000	0.040000																										0				19						c.(1225-1227)Cag>Tag		ARP8 actin-related protein 8 homolog (yeast)							211.0	223.0	219.0					3																	53906488		2203	4300	6503	SO:0001587	stop_gained	93973	0	0					g.chr3:53906488G>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1225C>T	chr3.hg19:g.53906488G>A	ENSP00000336842:p.Gln409*	0					ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000488802.1_5'Flank	p.Q409*	NM_022899.4	NP_075050.3	1	2	3	2.042405	Q9H981	ARP8_HUMAN		10	1325	-			B3KSW7|Q8N566|Q9H663	Nonsense_Mutation	SNP	ENST00000335754.3	0	1	hg19	c.1225C>T	CCDS2875.1	0	.	.	.	.	.	.	.	.	.	.	G	38	6.893393	0.97916	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.059585	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2682	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	X	409;298;114	.	ENSP00000231909:Q114X	Q	-	1	0	0	ACTR8	53881528	53881528	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CAG	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.463	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	0	0	1	2	2	2	2	0	0	0	0	279	0	279	276	1	1.880000	-2.215798	0	0.340000	NM_022899		0	6	6	0	948	942	0		1	0		0	0	279	0	0	0.964323	1.054107e-01	0	0	0	73	0	6	948
PDZRN3	23024	broad.mit.edu	37	3	73438995	73438995	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:73438995C>T	ENST00000263666.4	-	7	1502	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTCGGATGCGCCCATCCTT	0.468																																						ENST00000263666.4	0.220000	3.000000e-02	0.160000	0.060000	0.100000	0.112614	0.100000	0.100000																										0				69						c.(1387-1389)cGc>cAc		PDZ domain containing ring finger 3							174.0	133.0	147.0					3																	73438995		2203	4300	6503	SO:0001583	missense	23024	0	0					g.chr3:73438995C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1388G>A	chr3.hg19:g.73438995C>T	ENSP00000263666:p.Arg463His	0					PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H	p.R463H	NM_015009.1	NP_055824.1	1	2	3	2.042405	Q9UPQ7	PZRN3_HUMAN		7	1502	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	0	1	hg19	c.1388G>A	CCDS33789.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.541639|5.541639	0.96474|0.96474	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71;0.71	5.43|5.43	5.43|5.43	0.79202|0.79202	5.43|5.43	5.43|5.43	0.79202|0.79202	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.93550|0.93550	3.43|3.43	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.999;0.998	D|D	0.84050|0.84050	0.0369|0.0369	5|10	.|0.87932	.|D	.|0	.|.	18.8532|18.8532	0.92241|0.92241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|185;180;180;463	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	T|H	60|463;185;120;120;180;463;161	.|ENSP00000263666:R463H;ENSP00000442026:R185H;ENSP00000418168:R120H;ENSP00000418484:R120H;ENSP00000418624:R180H;ENSP00000419250:R161H	.|ENSP00000263666:R463H	A|R	-|-	1|2	0|0	0|0	PDZRN3|PDZRN3	73521685|73521685	73521685|73521685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.638000|7.638000	0.83328|0.83328	2.547000|2.547000	0.85894|0.85894	0.655000|0.655000	0.94253|0.94253	GCA|CGC	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.468	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	0	1	2	13	3	2	1	0	1	1	93	0	93	92	1	1.880000	-2.534105	1	0.340000	XM_041363		0	5	5	0	305	305	0		0	0		1	0	93	0	0	0.045066	1.949960e-02	0	0	0	27	0	5	305
TRIM42	287015	broad.mit.edu	37	3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	rs116143762		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:140397090G>A	ENST00000286349.3	+	1	210	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	7	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507																																						ENST00000286349.3	0.090000	0	0.070000	0.020000	0.030000	0.046541	0.030000	0.040000																										0				69						c.(19-21)Gtt>Att		tripartite motif containing 42		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	368.0	307.0	328.0		19	0.6	1.0	3	dbSNP_132	328	0,8600		0,0,4300	no	missense	TRIM42	NM_152616.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	7/724	140397090	1,13005	2203	4300	6503	SO:0001583	missense	287015	8	121412	47				g.chr3:140397090G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.19G>A	chr3.hg19:g.140397090G>A	ENSP00000286349:p.Val7Ile	0						p.V7I	NM_152616.4	NP_689829.3	1	2	3	2.042405	Q8IWZ5	TRI42_HUMAN		1	210	+			A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	0	1	hg19	c.19G>A	CCDS3113.1	0	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838139	0.16891	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.37411	1.2	5.37	0.561	0.17285	5.37	0.561	0.17285	.	0.904453	0.09312	N	0.819434	T	0.14874	0.0359	N	0.03608	-0.345	0.20764	N	0.999857	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	10	0.29301	T	0.29	-13.3898	5.8185	0.18514	0.1808:0.4034:0.4158:0.0	.	7	Q8IWZ5	TRI42_HUMAN	I	7	ENSP00000286349:V7I	ENSP00000286349:V7I	V	+	1	0	0	TRIM42	141879780	141879780	0.019000	0.18553	0.964000	0.40570	0.414000	0.31173	0.278000	0.18753	0.657000	0.30906	-0.214000	0.12660	GTT	0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.507	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	0	0	1	2	2	2	6	0	0	0	0	211	0	211	210	1	1.880000	-2.461508	0	0.340000	NM_152616		0	5	5	0	747	741	0		1		0	0	1	211	896	0	0.936397	0	7.003013e-01	0	0	0	1025	5	747
SORCS2	57537	broad.mit.edu	37	4	7691260	7691260	+	Silent	SNP	C	C	T	rs541579051		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:7691260C>T	ENST00000507866.2	+	11	1645	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	SORCS2_ENST00000329016.9_Silent_p.Y340Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	512					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACCCCTACGTATCAGGCA	0.592																																						ENST00000507866.2	1.000000	5.600000e-01	1.000000	0.770000	0.990000	0.917038	0.990000	1.000000																										0				42						c.(1534-1536)taC>taT		sortilin-related VPS10 domain containing receptor 2							38.0	42.0	40.0					4																	7691260		2137	4245	6382	SO:0001819	synonymous_variant	57537	10	120658	33				g.chr4:7691260C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1536C>T	chr4.hg19:g.7691260C>T		0					SORCS2_ENST00000329016.9_Silent_p.Y340Y	p.Y512Y	NM_020777.2	NP_065828.2	0	1	1	2.041025	Q96PQ0	SORC2_HUMAN		11	1645	+			Q9P2L7	Silent	SNP	ENST00000507866.2	1	1	hg19	c.1536C>T	CCDS47008.1	1																																																																																								0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.592	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1	2	2	2	2	0	0	0	0	20	0	20	20	1	1.880000	-19.865620	1	0.340000	NM_020777		0	11	10	0	52	51	1		1	0		0	0	20	0	0	0.998606	4.441971e-01	0	0	0	8	0	11	52
STIM2	57620	broad.mit.edu	37	4	27019384	27019384	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:27019384G>A	ENST00000467011.1	+	11	1966	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H|STIM2_ENST00000382009.3_Missense_Mutation_p.R609H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	514					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.R601L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGCCTGTGCCGTTCACGCCGC	0.597																																						ENST00000467011.1	0.140000	2.000000e-02	0.110000	0.040000	0.070000	0.080049	0.070000	0.070000																										1	Substitution - Missense(1)	p.R601L(1)	lung(1)	25						c.(1540-1542)cGt>cAt		stromal interaction molecule 2							176.0	159.0	165.0					4																	27019384		2203	4300	6503	SO:0001583	missense	57620	0	0					g.chr4:27019384G>A	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1541G>A	chr4.hg19:g.27019384G>A	ENSP00000419383:p.Arg514His	0					STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000382009.3_Missense_Mutation_p.R609H|STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H	p.R514H	NM_001169117.1	NP_001162588	0	1	1	2.041025	Q9P246	STIM2_HUMAN		11	1966	+		Breast(46;0.0503)	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	0	1	hg19	c.1541G>A	CCDS54752.1	0	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637661	0.87760	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.79940	-1.2;-1.22;-1.23;-1.2;-1.23;-1.18;-1.32;-1.31	5.68	5.68	0.88126	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.991;0.991;0.996	D	0.87975	0.2739	10	0.72032	D	0.01	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	514;601;609;601	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	H	514;609;601;514;601;522;222;116	ENSP00000419073:R514H;ENSP00000371439:R609H;ENSP00000237364:R601H;ENSP00000419383:R514H;ENSP00000404812:R601H;ENSP00000417569:R522H;ENSP00000420113:R222H;ENSP00000419536:R116H	ENSP00000237364:R601H	R	+	2	0	0	STIM2	26628482	26628482	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.877000	0.87225	2.673000	0.90976	0.650000	0.86243	CGT	0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.597	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	0	0	1	2	2	2	2	0	0	0	0	148	0	148	147	1	1.880000	-2.058870	0	0.340000	NM_020860		0	7	7	0	576	570	0		1	0		0	0	148	0	0	0.979978	9.125682e-02	0	0	0	36	0	7	576
PAQR3	152559	broad.mit.edu	37	4	79847790	79847790	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:79847790G>T	ENST00000512733.1	-	4	800	c.587C>A	c.(586-588)aCg>aAg	p.T196K	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	196					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCATTGCTGCGTGAGGTAATT	0.458																																						ENST00000512733.1	1.000000	7.400000e-01	1.000000	0.820000	0.900000	0.907689	0.900000	1.000000																										0				8						c.(586-588)aCg>aAg		progestin and adipoQ receptor family member III							203.0	191.0	195.0					4																	79847790		2203	4300	6503	SO:0001583	missense	152559	0	0					g.chr4:79847790G>T	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.587C>A	chr4.hg19:g.79847790G>T	ENSP00000421981:p.Thr196Lys	0					PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_5'UTR	p.T196K	NM_001040202.1	NP_001035292.1	1	2	3	2.053004	Q6TCH7	PAQR3_HUMAN		4	800	-			A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	1	1	hg19	c.587C>A	CCDS34020.1	1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200601	0.38905	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.27890	1.64;1.64	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.041428	0.85682	D	0.000000	T	0.29652	0.0740	L	0.42744	1.35	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.11916	-1.0568	10	0.12766	T	0.61	-1.8795	20.2187	0.98312	0.0:0.0:1.0:0.0	.	196	Q6TCH7	PAQR3_HUMAN	K	196	ENSP00000421981:T196K;ENSP00000370019:T196K	ENSP00000344203:T196K	T	-	2	0	0	PAQR3	80066814	80066814	1.000000	0.71417	0.997000	0.53966	0.117000	0.20001	6.142000	0.71750	2.780000	0.95670	0.655000	0.94253	ACG	0.342236		TCGA-XD-AAUL-01A-21D-A397-08	0.458	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	0	0	1	2	2	2	2	0	0	0	0	153	0	153	151	1	1.880000	-20.000000	1	0.340000	NM_177453		0	92	91	0	504	502	1		1	1		0	0	153	0	0	1.000000	6.984026e-01	0	3	0	12	0	92	504
CDH18	1016	broad.mit.edu	37	5	19839078	19839078	+	Silent	SNP	T	T	A	rs148353712		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr5:19839078T>A	ENST00000507958.1	-	5	1008	c.18A>T	c.(16-18)acA>acT	p.T6T	CDH18_ENST00000506372.1_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T			Q13634	CAD18_HUMAN	cadherin 18, type 2	6					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGATGCAAGATGTGCTAGTAA	0.428																																						ENST00000507958.1	1.000000	6.600000e-01	1.000000	0.770000	0.890000	0.886663	0.890000	1.000000																										0				138						c.(16-18)acA>acT		cadherin 18, type 2							146.0	122.0	130.0					5																	19839078		2203	4300	6503	SO:0001819	synonymous_variant	1016	0	0					g.chr5:19839078T>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.18A>T	chr5.hg19:g.19839078T>A		0					CDH18_ENST00000506372.1_Silent_p.T6T|CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T	p.T6T			1	2	3	2.047249	Q13634	CAD18_HUMAN		5	1008	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	1	1	hg19	c.18A>T	CCDS3889.1	1																																																																																								0.341120		TCGA-XD-AAUL-01A-21D-A397-08	0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	1	0	1	2	2	2	2	0	0	0	0	80	0	80	80	1	1.880000	-19.984070	1	0.340000	NM_004934		0	43	43	0	240	238	1		1			0	0	80	0	0	1.000000	0	0	0	0	0	0	43	240
HIST1H2BF	8343	broad.mit.edu	37	6	26200004	26200004	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:26200004G>A	ENST00000359985.1	+	1	257	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ATCTTCGAGCGCATCGCTGGC	0.607																																						ENST00000359985.1	0.100000	1.000000e-02	0.080000	0.030000	0.050000	0.057902	0.050000	0.050000																										0				17						c.(217-219)cGc>cAc		histone cluster 1, H2bf							160.0	151.0	154.0					6																	26200004		2203	4300	6503	SO:0001583	missense	8343	0	0					g.chr6:26200004G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.218G>A	chr6.hg19:g.26200004G>A	ENSP00000353074:p.Arg73His	0					HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	p.R73H	NM_003522.3	NP_003513.1	0	0	0	2.029617	P62807	H2B1C_HUMAN		1	257	+		all_hematologic(11;0.196)	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	0	1	hg19	c.218G>A	CCDS4592.1	0	.	.	.	.	.	.	.	.	.	.	.	16.00	2.998290	0.54147	.	.	ENSG00000197846	ENST00000359985	T	0.69561	-0.41	3.89	3.89	0.44902	3.89	3.89	0.44902	.	0.000000	0.41938	D	0.000785	T	0.69504	0.3118	.	.	.	0.36868	D	0.88877	.	.	.	.	.	.	T	0.73363	-0.4006	7	0.49607	T	0.09	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000353074:R73H	ENSP00000353074:R73H	R	+	2	0	0	HIST1H2BF	26307983	26307983	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.733000	0.84916	2.102000	0.63906	0.650000	0.86243	CGC	0.335481		TCGA-XD-AAUL-01A-21D-A397-08	0.607	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	0	0	1	2	2	2	2	0	0	0	0	231	0	231	230	1	1.880000	-2.134619	0	0.340000	NM_003522		0	7	7	0	797	794	0		1			0	0	231	0	0	0.980381	0	0	0	0	0	0	7	797
ZBED9	114821	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373																																						ENST00000452236.2	0.190000	2.000000e-02	0.140000	0.050000	0.080000	0.100445	0.080000	0.080000																										0				71						c.(1219-1221)Cgg>Tgg									47.0	50.0	49.0					6																	28543263		2200	4300	6500	SO:0001583	missense	0	0	0					g.chr6:28543263G>A																												ENST00000452236.2:c.1219C>T	chr6.hg19:g.28543263G>A	ENSP00000395259:p.Arg407Trp	0					SCAND3_ENST00000530247.1_5'Flank	p.R407W	NM_052923.1	NP_443155.1	0	0	0	2.029617				3	1836	-				Missense_Mutation	SNP	ENST00000452236.2	0	1	hg19	c.1219C>T	CCDS34355.1	0	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	2	SCAND3	28651242	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG	0.335481		TCGA-XD-AAUL-01A-21D-A397-08	0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0	0	1	2	2	2	2	0	0	0	0	77	0	77	77	1	1.880000	-2.441014	0	0.340000			0	5	5	0	340	335	0		1	0		0	0	77	0	0	0.935559	3.478088e-04	0	0	0	2	0	5	340
BVES	11149	broad.mit.edu	37	6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	rs369142492		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5	0.100000	1.000000e-02	0.080000	0.030000	0.050000	0.059153	0.050000	0.060000																										1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160.0	160.0	160.0		470,470,470	3.3	1.0	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149	4	121412	44				g.chr6:105573335T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.470A>G	chr6.hg19:g.105573335T>C	ENSP00000313172:p.Lys157Arg	0					BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	0	1	1	2.038517	Q8NE79	POPD1_HUMAN		4	686	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	0	1	hg19	c.470A>G	CCDS5051.1	0	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	0	BVES	105680028	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG	0.338876		TCGA-XD-AAUL-01A-21D-A397-08	0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	0	0	1	2	2	2	2	0	0	0	0	195	0	195	194	1	1.880000	-1.630750	0	0.340000	NM_147147		0	7	7	0	784	781	0		1	0		0	0	195	0	0	0.980380	3.401753e-04	0	0	0	3	0	7	784
CNPY4	245812	broad.mit.edu	37	7	99720455	99720455	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:99720455G>C	ENST00000262932.3	+	4	523	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	131						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGAAGGGGGTGAAGGTGGA	0.557																																						ENST00000262932.3	1.000000	6.500000e-01	1.000000	0.880000	0.990000	0.956479	0.990000	1.000000																										0				7						c.(391-393)Gtg>Ctg		canopy FGF signaling regulator 4							79.0	68.0	72.0					7																	99720455		2203	4300	6503	SO:0001583	missense	245812	0	0					g.chr7:99720455G>C	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.391G>C	chr7.hg19:g.99720455G>C	ENSP00000262932:p.Val131Leu	1					TAF6_ENST00000437822.2_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	p.V131L	NM_152755.1	NP_689968.1	1	3	4	2.642274	Q8N129	CNPY4_HUMAN		4	523	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	0	1	hg19	c.391G>C	CCDS34701.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042190	0.93685	.	.	ENSG00000166997	ENST00000262932	T	0.39592	1.07	5.63	5.63	0.86233	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.64567	1.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.60357	-0.7279	10	0.48119	T	0.1	-23.8167	15.1914	0.73047	0.0:0.0:1.0:0.0	.	131	Q8N129	CNPY4_HUMAN	L	131	ENSP00000262932:V131L	ENSP00000262932:V131L	V	+	1	0	0	CNPY4	99558391	99558391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.873000	0.87193	2.654000	0.90174	0.561000	0.74099	GTG	0.493321		TCGA-XD-AAUL-01A-21D-A397-08	0.557	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	1	0	1	2	2	2	2	0	0	0	0	20	0	20	20	1	1.880000	-19.914910	1	0.340000	NM_152755		0	12	12	0	70	70	1		1	1		0	0	20	0	0	0.999362	9.983425e-01	0	6	0	64	0	12	70
CSMD1	64478	broad.mit.edu	37	8	3047451	3047451	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr8:3047451G>A	ENST00000520002.1	-	35	5939	c.5384C>T	c.(5383-5385)aCg>aTg	p.T1795M	CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1795	Sushi 10. {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)		GCTGGGGATCGTGTCGTTCCA	0.592																																						ENST00000520002.1	1.000000	1.100000e-01	0.650000	0.220000	0.390000	0.438344	0.390000	0.340000																										0				25						c.(5383-5385)aCg>aTg		CUB and Sushi multiple domains 1							35.0	39.0	38.0					8																	3047451		2014	4165	6179	SO:0001583	missense	64478	0	0					g.chr8:3047451G>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.5384C>T	chr8.hg19:g.3047451G>A	ENSP00000430733:p.Thr1795Met	0					CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M	p.T1795M			1	2	3	2.060586	Q96PZ7	CSMD1_HUMAN		35	5939	-		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)	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	0	1	hg19	c.5384C>T		0	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018426	0.54576	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.34	5.34	0.76211	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.064322	0.64402	D	0.000010	T	0.77618	0.4157	M	0.67397	2.05	0.58432	D	0.999994	D;P;D	0.76494	0.998;0.951;0.999	P;D;D	0.66497	0.885;0.932;0.944	T	0.77877	-0.2424	10	0.52906	T	0.07	.	19.4214	0.94723	0.0:0.0:1.0:0.0	.	1795;1795;1795	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	M	1795;1795;1657;1794;1794;1794	ENSP00000383047:T1795M;ENSP00000430733:T1795M;ENSP00000441462:T1794M;ENSP00000446243:T1794M;ENSP00000441675:T1794M	ENSP00000320445:T1657M	T	-	2	0	0	CSMD1	3034858	3034858	1.000000	0.71417	0.951000	0.38953	0.166000	0.22503	7.369000	0.79578	2.653000	0.90120	0.544000	0.68410	ACG	0.344458		TCGA-XD-AAUL-01A-21D-A397-08	0.592	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	1	2	2	2	2	0	0	0	0	10	0	10	10	1	1.880000	-7.431562	1	0.340000	NM_033225		0	3	3	0	49	49	0		1			0	0	10	0	0	0.812588	0	0	0	0	0	0	3	49
VPS13A	23230	broad.mit.edu	37	9	80020889	80020889	+	Missense_Mutation	SNP	C	C	T	rs547927864		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:80020889C>T	ENST00000360280.3	+	70	9645	c.9385C>T	c.(9385-9387)Cgc>Tgc	p.R3129C	VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C|VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3129					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGAAGATTGCGCATTGAAGC	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17884	0.0		0.0	False		,,,				2504	0.0					ENST00000360280.3	0.140000	2.000000e-02	0.100000	0.040000	0.060000	0.075952	0.060000	0.070000																										0				104						c.(9385-9387)Cgc>Tgc		vacuolar protein sorting 13 homolog A (S. cerevisiae)							187.0	178.0	181.0					9																	80020889		2203	4300	6503	SO:0001583	missense	23230	2	121412	32				g.chr9:80020889C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9385C>T	chr9.hg19:g.80020889C>T	ENSP00000353422:p.Arg3129Cys	1					VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C	p.R3129C	NM_033305.2	NP_150648.2	0	1	1	1.751914	Q96RL7	VP13A_HUMAN		70	9645	+			Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	0	1	hg19	c.9385C>T	CCDS6655.1	0	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109496	0.77096	.	.	ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646	T;T;T;T	0.72505	0.79;0.88;-0.66;-0.66	5.92	5.92	0.95590	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.94;0.993	T	0.78301	-0.2257	9	.	.	.	.	19.9276	0.97108	0.0:1.0:0.0:0.0	.	3090;3129	Q96RL7-3;Q96RL7	.;VP13A_HUMAN	C	3090;3129;65;65	ENSP00000365823:R3090C;ENSP00000353422:R3129C;ENSP00000446020:R65C;ENSP00000365834:R65C	.	R	+	1	0	0	VPS13A	79210709	79210709	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	7.294000	0.78760	2.801000	0.96364	0.650000	0.86243	CGC	0.204819		TCGA-XD-AAUL-01A-21D-A397-08	0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	0	0	1	2	2	2	2	0	0	0	0	118	0	118	117	1	1.880000	-2.089206	0	0.340000	NM_015186		0	6	6	0	438	436	0		1	0		0	0	118	0	0	0.964721	7.131742e-02	0	0	0	27	0	6	438
MUSK	4593	broad.mit.edu	37	9	113431242	113431242	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:113431242G>A	ENST00000374448.4	+	1	192	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000416899.2_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	20					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTCAGCGGAACTGAGAA	0.438																																						ENST00000374448.4	0.090000	1.000000e-02	0.070000	0.020000	0.040000	0.049531	0.040000	0.040000																										0				49						c.(58-60)Gga>Aga		muscle, skeletal, receptor tyrosine kinase							330.0	317.0	321.0					9																	113431242		1901	4123	6024	SO:0001583	missense	4593	7	120852	46				g.chr9:113431242G>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.58G>A	chr9.hg19:g.113431242G>A	ENSP00000363571:p.Gly20Arg	1					MUSK_ENST00000416899.2_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR	p.G20R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	0	1	1	1.751914	O15146	MUSK_HUMAN		1	192	+			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	0	1	hg19	c.58G>A	CCDS48005.1	0	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497875	0.44455	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73469	-0.75	5.18	3.3	0.37823	5.18	3.3	0.37823	.	0.381500	0.22739	N	0.056228	T	0.58452	0.2123	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.965;0.994	B;P	0.50314	0.387;0.637	T	0.56523	-0.7965	10	0.13470	T	0.59	.	2.5396	0.04722	0.0967:0.1995:0.4509:0.2529	.	20;20	O15146;F5H6T2	MUSK_HUMAN;.	R	20	ENSP00000363571:G20R	ENSP00000189978:G20R	G	+	1	0	0	MUSK	112471063	112471063	0.957000	0.32711	1.000000	0.80357	0.773000	0.43773	0.060000	0.14342	1.205000	0.43262	-0.252000	0.11476	GGA	0.204819		TCGA-XD-AAUL-01A-21D-A397-08	0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	180	0	180	180	1	1.880000	-1.770391	0	0.340000			0	6	6	0	678	672	0		1			0	0	180	0	0	0.964114	0	0	0	0	0	0	6	678
HTR2C	3358	broad.mit.edu	37	X	114141583	114141583	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:114141583T>G	ENST00000276198.1	+	6	1710	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	328	Agonist binding. {ECO:0000250}.				behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGCCCATTTTTCATTACCAA	0.403																																						ENST00000276198.1	0.090000	0	0.060000	0.010000	0.030000	0.043620	0.030000	0.040000																										0				50						c.(982-984)Ttc>Gtc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)						202.0	179.0	187.0					X																	114141583		2203	4300	6503	SO:0001583	missense	3358	0	0					g.chrX:114141583T>G		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.982T>G	chrX.hg19:g.114141583T>G	ENSP00000276198:p.Phe328Val						HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V	p.F328V	NM_000868.2	NP_000859.1	0	1	1		P28335	5HT2C_HUMAN		6	1710	+			B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	0	1	hg19	c.982T>G	CCDS14564.1	0	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525410	0.64747	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.38240	1.15;1.15	5.14	5.14	0.70334	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.231260	0.43579	D	0.000553	T	0.70482	0.3229	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79804	-0.1649	10	0.87932	D	0	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	328	P28335	5HT2C_HUMAN	V	328	ENSP00000276198:F328V;ENSP00000361019:F328V	ENSP00000276198:F328V	F	+	1	0	0	HTR2C	114047839	114047839	1.000000	0.71417	0.985000	0.45067	0.632000	0.37999	7.934000	0.87649	1.827000	0.53221	0.381000	0.24937	TTC	0.340000		TCGA-XD-AAUL-01A-21D-A397-08	0.403	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	0	0	1	2	2	2	2	0	0	0	0	73	0	73	72	1	1.880000	-5.101446	1	0.340000	NM_000868		0	4	4	0	329	329	0		1			0	0	73	0	0	0.890980	0	0	0	0	0	0	4	329
CYLC1	1538	broad.mit.edu	37	X	83129622	83129622	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:83129622C>A	ENST00000329312.4	+	4	1943	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	636	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACCTCCAAAACCAAGATATGC	0.383																																						ENST00000329312.4	0.820000	4.300000e-01	0.730000	0.510000	0.610000	0.627049	0.610000	0.620000																										0				58						c.(1906-1908)Cca>Aca		cylicin, basic protein of sperm head cytoskeleton 1							63.0	54.0	57.0					X																	83129622		2202	4299	6501	SO:0001583	missense	1538	0	0					g.chrX:83129622C>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1906C>A	chrX.hg19:g.83129622C>A	ENSP00000331556:p.Pro636Thr							p.P636T	NM_021118.1	NP_066941.1	0	1	1		P35663	CYLC1_HUMAN		4	1943	+			A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	1	1	hg19	c.1906C>A	CCDS35341.1	0	.	.	.	.	.	.	.	.	.	.	c	7.831	0.719819	0.15372	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.54071	0.59	3.48	2.6	0.31112	3.48	2.6	0.31112	.	.	.	.	.	T	0.48223	0.1488	L	0.34521	1.04	0.20489	N	0.999899	P;D	0.62365	0.603;0.991	B;P	0.50659	0.397;0.647	T	0.32322	-0.9911	9	0.66056	D	0.02	-4.5343	8.0054	0.30321	0.0:0.7561:0.2439:0.0	.	636;636	P35663;F5H4V5	CYLC1_HUMAN;.	T	636	ENSP00000331556:P636T	ENSP00000331556:P636T	P	+	1	0	0	CYLC1	83016278	83016278	0.996000	0.38824	1.000000	0.80357	0.463000	0.32649	0.517000	0.22832	0.813000	0.34350	0.513000	0.50165	CCA	0.340000		TCGA-XD-AAUL-01A-21D-A397-08	0.383	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	1	0	1	2	2	2	2	0	0	0	0	17	0	17	17	1	1.880000	-20.000000	1	0.340000	NM_021118		0	28	28	0	104	103	1		1			0	0	17	0	0	1.000000	0	0	0	0	0	0	28	104
SATL1	340562	broad.mit.edu	37	X	84362345	84362345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:84362345G>A	ENST00000395409.3	-	1	1629	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SATL1_ENST00000509231.1_Nonsense_Mutation_p.R544*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	357	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)	p.R544R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTAATCAGTCGCAAAATTTCT	0.458																																						ENST00000395409.3	0.120000	1.000000e-02	0.090000	0.020000	0.050000	0.061528	0.050000	0.050000																										1	Substitution - coding silent(1)	p.R544R(1)	endometrium(1)	29						c.(1069-1071)Cga>Tga		spermidine/spermine N1-acetyl transferase-like 1							53.0	44.0	47.0					X																	84362345		2203	4300	6503	SO:0001587	stop_gained	340562	0	0					g.chrX:84362345G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1069C>T	chrX.hg19:g.84362345G>A	ENSP00000378804:p.Arg357*						SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R544*	p.R357*			0	1	1		Q86VE3	SATL1_HUMAN		1	1629	-			A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	0	1	hg19	c.1069C>T		0	.	.	.	.	.	.	.	.	.	.	G	37	6.626167	0.97714	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	3.54	2.63	0.31362	3.54	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7275	9.2535	0.37568	0.0:0.0:0.7766:0.2234	.	.	.	.	X	357;357;544	.	ENSP00000329115:R357X	R	-	1	2	2	SATL1	84249001	84249001	0.291000	0.24352	0.213000	0.23690	0.003000	0.03518	3.144000	0.50616	0.828000	0.34709	0.506000	0.49869	CGA	0.340000		TCGA-XD-AAUL-01A-21D-A397-08	0.458	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	2	2	2	2	0	0	0	0	60	0	60	58	1	1.880000	-3.293818	1	0.340000	XM_291339		0	4	4	0	231	230	0		1			0	0	60	0	0	0.890128	0	0	0	0	0	0	4	231
LAMP2	3920	broad.mit.edu	37	X	119575595	119575595	+	Silent	SNP	C	C	T			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:119575595C>T	ENST00000200639.4	-	8	1219	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LAMP2_ENST00000371335.4_Silent_p.K361K|LAMP2_ENST00000540603.1_Silent_p.K314K|LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000538785.1_Silent_p.K250K			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	361	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGTAGAATACTTTCCTTGTG	0.343																																						ENST00000200639.4	0.990000	7.100000e-01	0.960000	0.800000	0.880000	0.882824	0.880000	0.910000																										0				15						c.(1081-1083)aaG>aaA		lysosomal-associated membrane protein 2							115.0	105.0	108.0					X																	119575595		2203	4300	6503	SO:0001819	synonymous_variant	3920	0	0					g.chrX:119575595C>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1083G>A	chrX.hg19:g.119575595C>T							LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000371335.4_Silent_p.K361K|LAMP2_ENST00000540603.1_Silent_p.K314K	p.K361K			0	1	1		P13473	LAMP2_HUMAN		8	1219	-			A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	1	1	hg19	c.1083G>A	CCDS14599.1	1																																																																																								0.340000		TCGA-XD-AAUL-01A-21D-A397-08	0.343	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1	1	0	1	2	2	2	2	0	0	0	0	45	0	45	45	1	1.880000	-20.000000	1	0.340000			0	57	57	0	125	123	1		1	1		0	0	45	0	0	1.000000	1	0	284	0	258	0	57	125
