#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|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)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)Ggt>Cgt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	224	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		31	21	0	0	0	1	0	31	21				
TTC12	54970	broad.mit.edu	37	11	113212566	113212566	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:113212566T>C	ENST00000529221.1	+	12	1009	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P	TTC12_ENST00000483239.2_Missense_Mutation_p.S308P|TTC12_ENST00000393020.1_Missense_Mutation_p.S302P|TTC12_ENST00000314756.3_Missense_Mutation_p.S302P|TTC12_ENST00000478125.1_3'UTR	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	302										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TAGGTGTTTTTCCACAGCAGG	0.423																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(904-906)Tcc>Ccc		tetratricopeptide repeat domain 12							175.0	169.0	171.0					11																	113212566		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113212566T>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.904T>C	11.37:g.113212566T>C	ENSP00000433757:p.Ser302Pro					TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.S302P|TTC12_ENST00000529221.1_Missense_Mutation_p.S302P|TTC12_ENST00000483239.2_Missense_Mutation_p.S308P	p.S302P			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	12	1309	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	302					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.904T>C	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	T	11.17	1.559814	0.27827	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.15718	2.43;2.41;2.4;2.43	5.25	4.06	0.47325	Armadillo-type fold (1);	0.649218	0.15974	N	0.235610	T	0.19525	0.0469	M	0.62723	1.935	0.09310	N	1	P;P	0.45283	0.855;0.855	B;B	0.41571	0.36;0.36	T	0.10753	-1.0616	10	0.44086	T	0.13	-8.256	9.7099	0.40238	0.0:0.0:0.1871:0.8129	.	302;302	A8K8G6;Q9H892	.;TTC12_HUMAN	P	302;302;302;308	ENSP00000433757:S302P;ENSP00000315160:S302P;ENSP00000376743:S302P;ENSP00000419652:S308P	ENSP00000315160:S302P	S	+	1	0	TTC12	112717776	0.746000	0.28272	0.621000	0.29145	0.102000	0.19082	1.919000	0.40015	1.984000	0.57885	0.459000	0.35465	TCC		0.423	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		32	58	0	0	0	1	0	32	58				
SLC2A10	81031	broad.mit.edu	37	20	45354641	45354641	+	Silent	SNP	C	C	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:45354641C>A	ENST00000359271.2	+	2	1216	c.966C>A	c.(964-966)ccC>ccA	p.P322P		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	322					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTGCCGTGCCCATGGACTCAG	0.657																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(964-966)ccC>ccA		solute carrier family 2 (facilitated glucose transporter), member 10							63.0	57.0	59.0					20																	45354641		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354641C>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.966C>A	20.37:g.45354641C>A							p.P322P	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	1216	+		Myeloproliferative disorder(115;0.0122)	322					A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.966C>A	CCDS13402.1																																																																																				0.657	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			20	22	1	0	1.56452e-12	1	1.63903e-12	20	22				
AGAP6	414189	broad.mit.edu	37	10	51749089	51749089	+	Intron	SNP	C	C	G	rs527938149	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr10:51749089C>G	ENST00000374056.4	+	1	621				AGAP6_ENST00000412531.3_Missense_Mutation_p.A82G			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A82G(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCTTTCTGCCAATCCAGAG	0.343													C|||	4	0.000798722	0.0008	0.0	5008	,	,		19062	0.001		0.001	False		,,,				2504	0.001					ENST00000412531.3																			1	Substitution - Missense(1)	p.A82G(1)	prostate(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(244-246)gCc>gGc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001627	intron_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51749089C>G		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.223+391C>G	10.37:g.51749089C>G						AGAP6_ENST00000374056.4_Intron	p.A82G	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN			2	317	+			82						Missense_Mutation	SNP	ENST00000374056.4	37	c.245C>G		.	.	.	.	.	.	.	.	.	.	C	9.398	1.077299	0.20227	.	.	ENSG00000204149	ENST00000374056	D	0.88664	-2.41	0.945	-0.993	0.10228	.	.	.	.	.	T	0.80166	0.4573	L	0.36672	1.1	0.09310	N	1	P	0.38711	0.643	B	0.41691	0.364	T	0.67507	-0.5653	9	0.12103	T	0.63	.	3.7085	0.08410	0.5812:0.4188:0.0:0.0	.	82	C9IYN2	.	G	82	ENSP00000363168:A82G	ENSP00000363168:A82G	A	+	2	0	AGAP6	51419095	0.000000	0.05858	0.447000	0.26932	0.050000	0.14768	-0.315000	0.08081	-0.186000	0.10533	0.175000	0.17021	GCC		0.343	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		7	81	0	0	0	1	0	7	81				
N4BP2L1	90634	broad.mit.edu	37	13	32972852	32972852	+	IGR	SNP	C	C	T	rs55853199		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr13:32972852C>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.T3401M|N4BP2L1_ENST00000459716.1_5'Flank|BRCA2_ENST00000544455.1_Missense_Mutation_p.T3401M	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CAGGCCAGTACGGAAGAATGT	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17926	0.0		0.0	False		,,,				2504	0.0					ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	HM971469	BRCA2	M	rs55853199	c.(10201-10203)aCg>aTg	Homologous recombination	breast cancer 2, early onset							59.0	56.0	57.0					13																	32972852		2203	4300	6503	SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972852C>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972852C>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.T3401M	p.T3401M	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10429	+		Lung SC(185;0.0262)	3401					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.10202C>T	CCDS9345.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.12	1.264080	0.23136	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00776	5.71;5.71	5.23	1.42	0.22433	.	1.003580	0.08024	N	0.992518	T	0.00845	0.0028	L	0.32530	0.975	0.09310	N	1	B	0.27351	0.176	B	0.19946	0.027	T	0.48758	-0.9007	10	0.72032	D	0.01	.	6.1574	0.20346	0.2623:0.5787:0.0:0.159	rs55853199	3401	P51587	BRCA2_HUMAN	M	3401	ENSP00000369497:T3401M;ENSP00000439902:T3401M	ENSP00000369497:T3401M	T	+	2	0	BRCA2	31870852	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.080000	0.14802	-0.032000	0.13758	-1.466000	0.01016	ACG		0.398	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		4	55	0	0	0	1	0	4	55				
PPP1R14B	26472	broad.mit.edu	37	11	64014017	64014017	+	Silent	SNP	C	C	G	rs1063811	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:64014017C>G	ENST00000309318.3	-	1	396	c.129G>C	c.(127-129)ggG>ggC	p.G43G	RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000542235.1_5'Flank|RP11-783K16.5_ENST00000544553.1_RNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	43					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						CATCGTCCGCCCCGCCCGGGC	0.721																																						ENST00000309318.3																			0				kidney(1)|lung(1)|pancreas(1)	3						c.(127-129)ggG>ggC		protein phosphatase 1, regulatory (inhibitor) subunit 14B																																				SO:0001819	synonymous_variant	26472				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr11:64014017C>G	X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.129G>C	11.37:g.64014017C>G						RP11-783K16.5_ENST00000544553.1_RNA	p.G43G	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN			1	396	-			43					Q504S7|Q7KZD7	Silent	SNP	ENST00000309318.3	37	c.129G>C	CCDS31596.1																																																																																				0.721	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396586.2	NM_138689		3	20	0	0	0	1	0	3	20				
CENPI	2491	broad.mit.edu	37	X	100356051	100356051	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:100356051T>A	ENST00000372927.1	+	0	269				CENPI_ENST00000423383.1_De_novo_Start_OutOfFrame|CENPI_ENST00000372926.1_De_novo_Start_OutOfFrame|CENPI_ENST00000218507.5_De_novo_Start_OutOfFrame	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GTGTAGAACATATGCAGTAAT	0.393																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30								centromere protein I							92.0	78.0	83.0					X																	100356051		2203	4300	6503			2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100356051T>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.-9T>A	X.37:g.100356051T>A						CENPI_ENST00000372926.1_De_novo_Start_OutOfFrame|CENPI_ENST00000218507.5_De_novo_Start_OutOfFrame|CENPI_ENST00000423383.1_De_novo_Start_OutOfFrame		NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			0	269	+								Q5JWZ9|Q96ED0	Translation_Start_Site	SNP	ENST00000372927.1	37		CCDS14479.1																																																																																				0.393	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		5	123	0	0	0	1	0	5	123				
BPTF	2186	broad.mit.edu	37	17	65944414	65944414	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:65944414G>A	ENST00000321892.4	+	25	8357	c.8296G>A	c.(8296-8298)Gaa>Aaa	p.E2766K	BPTF_ENST00000335221.5_Missense_Mutation_p.E2623K|BPTF_ENST00000306378.6_Missense_Mutation_p.E2640K|RP11-855A2.3_ENST00000577385.1_RNA|BPTF_ENST00000424123.3_Missense_Mutation_p.E2484K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2766					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGCAAATTGAAGTGCAGGT	0.443																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(8296-8298)Gaa>Aaa		bromodomain PHD finger transcription factor							69.0	50.0	57.0					17																	65944414		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65944414G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8296G>A	17.37:g.65944414G>A	ENSP00000315454:p.Glu2766Lys					BPTF_ENST00000335221.5_Missense_Mutation_p.E2623K|BPTF_ENST00000424123.3_Missense_Mutation_p.E2484K|BPTF_ENST00000306378.6_Missense_Mutation_p.E2640K	p.E2766K			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		25	8357	+	all_cancers(12;6e-11)		2766					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.8296G>A		.	.	.	.	.	.	.	.	.	.	G	10.95	1.496041	0.26774	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.64438	2.61;-0.1;2.61	5.75	3.66	0.41972	.	.	.	.	.	T	0.64327	0.2588	M	0.61703	1.905	0.44268	D	0.997127	P;P;P	0.49961	0.93;0.649;0.649	P;B;B	0.45138	0.471;0.23;0.23	T	0.69034	-0.5252	9	0.66056	D	0.02	-4.5391	15.911	0.79473	0.0:0.2646:0.7354:0.0	.	444;2640;2623	B4DJV8;Q12830-2;Q12830-4	.;.;.	K	2640;2623;2766;294	ENSP00000307208:E2640K;ENSP00000334351:E2623K;ENSP00000315454:E2766K	ENSP00000307208:E2640K	E	+	1	0	BPTF	63374876	0.992000	0.36948	0.479000	0.27329	0.029000	0.11900	2.001000	0.40825	0.697000	0.31718	0.563000	0.77884	GAA		0.443	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	25	0	0	0	1	0	5	25				
LONRF3	79836	broad.mit.edu	37	X	118143095	118143095	+	Missense_Mutation	SNP	G	G	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:118143095G>T	ENST00000371628.3	+	7	1568	c.1537G>T	c.(1537-1539)Gca>Tca	p.A513S	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.A257S|LONRF3_ENST00000304778.7_Missense_Mutation_p.A472S	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	513							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTAGTGCTTGGCATCAAGAAA	0.378																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1414-1416)Gca>Tca		LON peptidase N-terminal domain and ring finger 3							92.0	83.0	86.0					X																	118143095		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118143095G>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1537G>T	X.37:g.118143095G>T	ENSP00000360690:p.Ala513Ser					LONRF3_ENST00000422289.2_Missense_Mutation_p.A257S|LONRF3_ENST00000371628.3_Missense_Mutation_p.A513S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.A472S	p.A472S			Q496Y0	LONF3_HUMAN			6	1577	+			513					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1414G>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.889486|2.889486	0.52014|0.52014	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;D|.	0.84370|.	-1.37;-1.37;-1.16;-1.84|.	6.08|6.08	0.613|0.613	0.17597|0.17597	Zinc finger, RING/FYVE/PHD-type (1);|.	0.393637|.	0.28130|.	N|.	0.016488|.	T|T	0.43055|0.43055	0.1230|0.1230	L|L	0.41356|0.41356	1.27|1.27	0.38421|0.38421	D|D	0.946177|0.946177	B;B;B|.	0.31209|.	0.031;0.313;0.071|.	B;B;B|.	0.38500|.	0.051;0.275;0.089|.	T|T	0.25710|0.25710	-1.0124|-1.0124	10|5	0.20519|.	T|.	0.43|.	-30.4149|-30.4149	4.3144|4.3144	0.10986|0.10986	0.1997:0.1045:0.579:0.1168|0.1997:0.1045:0.579:0.1168	.|.	257;472;513|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	S|V	472;472;513;257|278	ENSP00000360691:A472S;ENSP00000307732:A472S;ENSP00000360690:A513S;ENSP00000408894:A257S|.	ENSP00000307732:A472S|.	A|G	+|+	1|2	0|0	LONRF3|LONRF3	118027123|118027123	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.947000|0.947000	0.59692|0.59692	3.533000|3.533000	0.53561|0.53561	0.022000|0.022000	0.15160|0.15160	0.600000|0.600000	0.82982|0.82982	GCA|GGC		0.378	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		38	104	1	0	3.09479e-21	1	3.40427e-21	38	104				
SH3D21	79729	broad.mit.edu	37	1	36786147	36786147	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:36786147T>C	ENST00000426732.2	+	13	1820	c.1535T>C	c.(1534-1536)gTg>gCg	p.V512A	SH3D21_ENST00000505871.1_Missense_Mutation_p.V517A|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Missense_Mutation_p.V628A|SH3D21_ENST00000312808.4_Missense_Mutation_p.V274A|SH3D21_ENST00000474766.1_3'UTR			A4FU49	SH321_HUMAN	SH3 domain containing 21	512						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AAAGAGGAGGTGACCCTGAAA	0.562																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(1882-1884)gTg>gCg		SH3 domain containing 21							48.0	58.0	54.0					1																	36786147		2203	4300	6503	SO:0001583	missense	79729							g.chr1:36786147T>C	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1535T>C	1.37:g.36786147T>C	ENSP00000408613:p.Val512Ala					SH3D21_ENST00000426732.2_Missense_Mutation_p.V512A|SH3D21_ENST00000312808.4_Missense_Mutation_p.V274A|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.V517A	p.V628A	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	1911	+			512					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.1883T>C		.	.	.	.	.	.	.	.	.	.	T	11.98	1.799840	0.31869	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.46063	1.44;1.77;0.88;1.77	1.36	-2.71	0.05986	.	.	.	.	.	T	0.24275	0.0588	L	0.46157	1.445	0.09310	N	1	B;P	0.36222	0.007;0.544	B;B	0.23716	0.001;0.048	T	0.06427	-1.0827	9	0.30078	T	0.28	.	3.7521	0.08570	0.0:0.3657:0.1983:0.4359	.	517;512	A4FU49-3;A4FU49	.;SH321_HUMAN	A	628;512;274;517	ENSP00000403476:V628A;ENSP00000408613:V512A;ENSP00000321936:V274A;ENSP00000421294:V517A	ENSP00000321936:V274A	V	+	2	0	SH3D21	36558734	0.043000	0.20138	0.000000	0.03702	0.001000	0.01503	0.460000	0.21924	-1.337000	0.02236	-0.371000	0.07208	GTG		0.562	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		6	30	0	0	0	1	0	6	30				
CDC27	996	broad.mit.edu	37	17	45219308	45219308	+	Silent	SNP	A	A	G			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:45219308A>G	ENST00000066544.3	-	12	1555	c.1462T>C	c.(1462-1464)Ttg>Ctg	p.L488L	CDC27_ENST00000527547.1_Silent_p.L487L|CDC27_ENST00000446365.2_Silent_p.L427L|CDC27_ENST00000531206.1_Silent_p.L494L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	488					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGATGGCTCAAAATATTTATA	0.383																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1462-1464)Ttg>Ctg		cell division cycle 27							112.0	118.0	116.0					17																	45219308		2203	4299	6502	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219308A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1462T>C	17.37:g.45219308A>G						CDC27_ENST00000446365.2_Silent_p.L427L|CDC27_ENST00000531206.1_Silent_p.L494L|CDC27_ENST00000527547.1_Silent_p.L487L	p.L488L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			12	1555	-			488					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1462T>C	CCDS11509.1																																																																																				0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			73	220	0	0	0	1	0	73	220				
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.T164T(2)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(490-492)acG>acT		POTE ankyrin domain family, member C							260.0	241.0	247.0					18																	14542654		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542654C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.492G>T	18.37:g.14542654C>A						POTEC_ENST00000389891.4_5'UTR	p.T164T	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	491	-			164						Silent	SNP	ENST00000358970.5	37	c.492G>T	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	156	1	0	0.00909568	1	0.00909568	4	156				
FAM53B	9679	broad.mit.edu	37	10	126370689	126370689	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr10:126370689C>G	ENST00000337318.3	-	4	604	c.393G>C	c.(391-393)agG>agC	p.R131S	FAM53B_ENST00000280780.6_Missense_Mutation_p.R131S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.R131S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	131										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGCCCAAGGGCCTCCATGATG	0.612																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(391-393)agG>agC		family with sequence similarity 53, member B							29.0	26.0	27.0					10																	126370689		2203	4300	6503	SO:0001583	missense	9679							g.chr10:126370689C>G	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.393G>C	10.37:g.126370689C>G	ENSP00000338532:p.Arg131Ser					FAM53B_ENST00000280780.6_Missense_Mutation_p.R131S|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.R131S	p.R131S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	604	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	131					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.393G>C	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657101	0.67586	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.61510	0.1;0.1;0.1	4.98	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.73598	2.24	0.46901	D	0.999244	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.65773	0.91;0.938;0.91	T	0.67300	-0.5705	10	0.87932	D	0	-5.2425	3.627	0.08117	0.0:0.5094:0.1951:0.2955	.	131;131;131	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	S	131	ENSP00000338532:R131S;ENSP00000376509:R131S;ENSP00000280780:R131S	ENSP00000280780:R131S	R	-	3	2	FAM53B	126360679	0.921000	0.31238	1.000000	0.80357	0.992000	0.81027	0.071000	0.14594	0.777000	0.33496	0.655000	0.94253	AGG		0.612	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		6	12	0	0	0	1	0	6	12				
KRT3	3850	broad.mit.edu	37	12	53189646	53189646	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr12:53189646C>T	ENST00000417996.2	-	1	255	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	KRT3_ENST00000309505.3_Missense_Mutation_p.G61S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	61	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGTTGCCGCCCAGGTTGTAG	0.667																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(181-183)Ggc>Agc		keratin 3							79.0	102.0	95.0					12																	53189646		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189646C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.181G>A	12.37:g.53189646C>T	ENSP00000413479:p.Gly61Ser					KRT3_ENST00000309505.3_Missense_Mutation_p.G61S	p.G61S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	255	-			61			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.181G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	17.87	3.494505	0.64186	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91843	-2.92;-2.92	5.16	5.16	0.70880	.	0.000000	0.47455	D	0.000225	D	0.93019	0.7778	M	0.65320	2	0.37011	D	0.895739	D	0.56968	0.978	P	0.51297	0.665	D	0.94870	0.8029	10	0.62326	D	0.03	.	15.4475	0.75243	0.1392:0.8608:0.0:0.0	.	61	P12035	K2C3_HUMAN	S	61	ENSP00000413479:G61S;ENSP00000312206:G61S	ENSP00000312206:G61S	G	-	1	0	KRT3	51475913	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	3.788000	0.55446	2.575000	0.86900	0.555000	0.69702	GGC		0.667	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		39	84	0	0	0	1	0	39	84				
RMDN1	51115	broad.mit.edu	37	8	87498786	87498786	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr8:87498786A>G	ENST00000406452.3	-	4	581	c.422T>C	c.(421-423)cTa>cCa	p.L141P	RMDN1_ENST00000519966.1_Missense_Mutation_p.L141P|RMDN1_ENST00000430676.2_Missense_Mutation_p.L141P|RMDN1_ENST00000523911.1_Missense_Mutation_p.L97P|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	141						microtubule (GO:0005874)|mitochondrion (GO:0005739)											ATACACCAATAGCTTTTTCTC	0.398																																						ENST00000406452.3																			0											c.(421-423)cTa>cCa		regulator of microtubule dynamics 1							138.0	120.0	126.0					8																	87498786		2203	4300	6503	SO:0001583	missense	51115							g.chr8:87498786A>G	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.422T>C	8.37:g.87498786A>G	ENSP00000385927:p.Leu141Pro					RMDN1_ENST00000523911.1_Missense_Mutation_p.L97P|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000519966.1_Missense_Mutation_p.L141P|RMDN1_ENST00000430676.2_Missense_Mutation_p.L141P	p.L141P	NM_016033.2	NP_057117.2					4	581	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	c.422T>C	CCDS34918.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.453868	0.26161	.	.	ENSG00000176623	ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000520719	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.88	-1.6	0.08426	Tetratricopeptide-like helical (1);	0.651344	0.15537	N	0.257162	T	0.19805	0.0476	N	0.19112	0.55	0.09310	N	1	B;B;B	0.34264	0.446;0.007;0.007	B;B;B	0.33750	0.169;0.009;0.009	T	0.10800	-1.0614	10	0.30854	T	0.27	0.9952	2.5391	0.04722	0.2054:0.387:0.0788:0.3288	.	141;141;141	B4DZW6;E7EVI2;Q96DB5	.;.;RMD1_HUMAN	P	141;97;141;141;5	ENSP00000385927:L141P;ENSP00000429899:L97P;ENSP00000428661:L141P;ENSP00000409661:L141P;ENSP00000428360:L5P	ENSP00000385927:L141P	L	-	2	0	FAM82B	87567902	0.478000	0.25917	0.004000	0.12327	0.955000	0.61496	0.597000	0.24059	-0.076000	0.12775	0.528000	0.53228	CTA		0.398	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		33	67	0	0	0	1	0	33	67				
ITGA10	8515	broad.mit.edu	37	1	145538808	145538808	+	Splice_Site	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:145538808G>A	ENST00000369304.3	+	24	3094	c.2919G>A	c.(2917-2919)agG>agA	p.R973R	RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000539363.1_Splice_Site_p.R830R|ITGA10_ENST00000538811.1_Splice_Site_p.R842R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	973					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R973S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCACTCTCAGGGTGAGAAGCT	0.522																																						ENST00000369304.3																			1	Substitution - Missense(1)	p.R973S(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e24+1		integrin, alpha 10							43.0	41.0	41.0					1																	145538808		2203	4300	6503	SO:0001630	splice_region_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145538808G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2919+1G>A	1.37:g.145538808G>A						ITGA10_ENST00000539363.1_Splice_Site_p.R830_splice|ITGA10_ENST00000538811.1_Splice_Site_p.R842_splice	p.R973_splice	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			24	3094	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		973					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Splice_Site	SNP	ENST00000369304.3	37	c.2919_splice	CCDS918.1																																																																																				0.522	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	Silent	16	26	0	0	0	1	0	16	26				
ERVFRD-1	405754	broad.mit.edu	37	6	11105081	11105081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr6:11105081G>A	ENST00000472091.1	-	2	838	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q155*	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	155					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TAAGTCTGTTGGTTAGAATCT	0.393																																						ENST00000472091.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						c.(463-465)Caa>Taa									160.0	173.0	169.0					6																	11105081		2201	4300	6501	SO:0001587	stop_gained	405754					integral to membrane|plasma membrane|virion		g.chr6:11105081G>A	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.463C>T	6.37:g.11105081G>A	ENSP00000420174:p.Gln155*					SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.Q155*	p.Q155*	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN			2	838	-			155						Nonsense_Mutation	SNP	ENST00000472091.1	37	c.463C>T	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	G	37	6.083291	0.97267	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	.	.	.	.	.	.	.	X	155	.	ENSP00000420174:Q155X	Q	-	1	0	ERVFRD-1	11213067	0.401000	0.25303	0.709000	0.30452	0.709000	0.40893	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CAA		0.393	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		6	398	0	0	0	1	0	6	398				
CACNA1D	776	broad.mit.edu	37	3	53839013	53839013	+	Silent	SNP	A	A	G			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr3:53839013A>G	ENST00000350061.5	+	45	6100	c.5589A>G	c.(5587-5589)caA>caG	p.Q1863Q	CACNA1D_ENST00000422281.2_Silent_p.Q1839Q|CACNA1D_ENST00000544977.1_Silent_p.Q242Q|CACNA1D_ENST00000288139.4_Silent_p.Q1883Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1863					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCAGGCAAAACTATGGCT	0.552																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5647-5649)caA>caG		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						84.0	82.0	82.0					3																	53839013		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53839013A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5589A>G	3.37:g.53839013A>G						CACNA1D_ENST00000422281.2_Silent_p.Q1839Q|CACNA1D_ENST00000350061.5_Silent_p.Q1863Q|CACNA1D_ENST00000544977.1_Silent_p.Q242Q	p.Q1883Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	46	5767	+			1863					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.5649A>G	CCDS46848.1																																																																																				0.552	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		28	33	0	0	0	1	0	28	33				
KCNB1	3745	broad.mit.edu	37	20	47991070	47991070	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:47991070T>C	ENST00000371741.4	-	2	1193	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	343					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GAGAAGATCATAATGCCCATG	0.537																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1027-1029)Atg>Gtg		potassium voltage-gated channel, Shab-related subfamily, member 1							59.0	56.0	57.0					20																	47991070		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991070T>C	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1027A>G	20.37:g.47991070T>C	ENSP00000360806:p.Met343Val						p.M343V	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1193	-			343					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1027A>G	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281325	0.40394	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.98345	-4.88	5.93	5.93	0.95920	Ion transport (1);	0.126818	0.64402	D	0.000001	D	0.93923	0.8055	N	0.01081	-1.03	0.80722	D	1	P	0.37370	0.592	P	0.44447	0.45	D	0.95246	0.8355	10	0.54805	T	0.06	.	16.0388	0.80650	0.0:0.0:0.0:1.0	.	343	Q14721	KCNB1_HUMAN	V	343;298	ENSP00000360806:M343V	ENSP00000360806:M343V	M	-	1	0	KCNB1	47424477	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.270000	0.75569	0.533000	0.62120	ATG		0.537	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		17	32	0	0	0	1	0	17	32				
PCMTD2	55251	broad.mit.edu	37	20	62904858	62904858	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:62904858C>T	ENST00000308824.6	+	6	1118	c.991C>T	c.(991-993)Cca>Tca	p.P331S	PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000369758.4_Missense_Mutation_p.P304S|PCMTD2_ENST00000609372.1_Missense_Mutation_p.P181S|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	331						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAAACAAAGCCAGACCCCCC	0.507																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(991-993)Cca>Tca		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							90.0	117.0	108.0					20																	62904858		2202	4299	6501	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904858C>T	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.991C>T	20.37:g.62904858C>T	ENSP00000307854:p.Pro331Ser					PCMTD2_ENST00000369758.3_Missense_Mutation_p.P304S|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Missense_Mutation_p.P107S	p.P331S	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			6	1118	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		331					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.991C>T	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.955520	0.73902	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.46063	0.88;1.54;0.88	5.17	5.17	0.71159	.	0.113318	0.64402	D	0.000013	T	0.51483	0.1677	L	0.47716	1.5	0.49798	D	0.999824	D;P	0.55385	0.971;0.888	P;P	0.52957	0.714;0.537	T	0.52609	-0.8553	10	0.54805	T	0.06	-13.6418	18.6781	0.91535	0.0:1.0:0.0:0.0	.	304;331	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	S	304;331;107	ENSP00000358773:P304S;ENSP00000307854:P331S;ENSP00000266078:P107S	ENSP00000266078:P107S	P	+	1	0	PCMTD2	62375302	1.000000	0.71417	0.781000	0.31783	0.920000	0.55202	2.449000	0.44935	2.406000	0.81754	0.655000	0.94253	CCA		0.507	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		52	78	0	0	0	1	0	52	78				
MUC5B	727897	broad.mit.edu	37	11	1270623	1270623	+	Silent	SNP	C	C	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr11:1270623C>A	ENST00000529681.1	+	31	12571	c.12513C>A	c.(12511-12513)ggC>ggA	p.G4171G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.G4174G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4171	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCCCCTGGGCCTCGAGTGCC	0.682																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(12520-12522)ggC>ggA		mucin 5B, oligomeric mucus/gel-forming							19.0	26.0	24.0					11																	1270623		1835	4061	5896	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270623C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12513C>A	11.37:g.1270623C>A						MUC5B_ENST00000529681.1_Silent_p.G4171G|RP11-532E4.2_ENST00000532061.2_RNA	p.G4174G			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	12580	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4171			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.12522C>A	CCDS44515.2																																																																																				0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		25	76	1	0	4.62619e-21	1	4.96469e-21	25	76				
C16orf71	146562	broad.mit.edu	37	16	4787829	4787829	+	Missense_Mutation	SNP	T	T	A	rs141702834		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr16:4787829T>A	ENST00000299320.5	+	3	636	c.158T>A	c.(157-159)aTc>aAc	p.I53N	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.I53N	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	53										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GAGCTGTTCATCTTCCAGCGA	0.602																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(157-159)aTc>aAc		chromosome 16 open reading frame 71							85.0	82.0	83.0					16																	4787829		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4787829T>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.158T>A	16.37:g.4787829T>A	ENSP00000299320:p.Ile53Asn					RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.I53N	p.I53N	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			3	636	+			53					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.158T>A	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262804	0.80358	.	.	ENSG00000166246	ENST00000299320	T	0.13538	2.58	4.51	4.51	0.55191	.	0.000000	0.42821	D	0.000648	T	0.31358	0.0794	L	0.58101	1.795	0.34355	D	0.690259	D	0.89917	1.0	D	0.72075	0.976	T	0.45308	-0.9270	10	0.87932	D	0	-8.0223	12.0246	0.53362	0.0:0.0:0.0:1.0	.	53	Q8IYS4	CP071_HUMAN	N	53	ENSP00000299320:I53N	ENSP00000299320:I53N	I	+	2	0	C16orf71	4727830	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.192000	0.58378	2.050000	0.60909	0.529000	0.55759	ATC		0.602	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		6	65	0	0	0	1	0	6	65				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			4	102	0	0	0	1	0	4	102				
F8	2157	broad.mit.edu	37	X	154159643	154159643	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:154159643C>T	ENST00000360256.4	-	14	2622	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	808	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCAACAAATCACTAGAGGAG	0.413																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(2422-2424)Gat>Aat		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						231.0	213.0	219.0					X																	154159643		2203	4299	6502	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154159643C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2422G>A	X.37:g.154159643C>T	ENSP00000353393:p.Asp808Asn						p.D808N	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	2622	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		808			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2422G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427156	0.11987	.	.	ENSG00000185010	ENST00000360256	D	0.99252	-5.63	5.32	4.42	0.53409	.	0.985888	0.08306	N	0.966177	D	0.98077	0.9366	M	0.67953	2.075	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	D	0.93593	0.6923	10	0.11485	T	0.65	-9.1674	12.2242	0.54451	0.0:0.8341:0.1659:0.0	.	808	P00451	FA8_HUMAN	N	808	ENSP00000353393:D808N	ENSP00000353393:D808N	D	-	1	0	F8	153812837	0.032000	0.19561	0.086000	0.20670	0.094000	0.18550	0.990000	0.29642	2.227000	0.72691	0.422000	0.28245	GAT		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			67	90	0	0	0	1	0	67	90				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	48	0	0	0	1	0	3	48				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	53	0	0	0	1	0	4	53				
MIR124-2HG	100130155	broad.mit.edu	37	8	65291905	65291905	+	lincRNA	SNP	A	A	T			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr8:65291905A>T	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							TTGCCGCATAAATGCCCCCCA	0.512																																						ENST00000521441.1																			0																																																			100130155							g.chr8:65291905A>T																													8.37:g.65291905A>T														0	655	+									RNA	SNP	ENST00000521441.1	37																																																																																						0.512	LINC00966-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378434.1			7	5	0	0	0	1	0	7	5				
CSPG4	1464	broad.mit.edu	37	15	75982728	75982728	+	Silent	SNP	T	T	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr15:75982728T>C	ENST00000308508.5	-	3	770	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(676-678)ctA>ctG		chondroitin sulfate proteoglycan 4							20.0	22.0	21.0					15																	75982728		2187	4271	6458	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982728T>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.678A>G	15.37:g.75982728T>C							p.L226L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	770	-			226			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.678A>G	CCDS10284.1																																																																																				0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		3	46	0	0	0	1	0	3	46				
TMCO4	255104	broad.mit.edu	37	1	20067293	20067293	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:20067293G>A	ENST00000294543.6	-	11	1260	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	TMCO4_ENST00000375122.2_Missense_Mutation_p.A300V|TMCO4_ENST00000489814.1_5'Flank|TMCO4_ENST00000375127.1_Missense_Mutation_p.A340V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	340						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTACTTTAGGGCCTCCTGGGC	0.577																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1018-1020)gCc>gTc		transmembrane and coiled-coil domains 4							101.0	101.0	101.0					1																	20067293		2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20067293G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1019C>T	1.37:g.20067293G>A	ENSP00000294543:p.Ala340Val					TMCO4_ENST00000375122.2_Missense_Mutation_p.A300V|TMCO4_ENST00000375127.1_Missense_Mutation_p.A340V	p.A340V	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	11	1260	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	340					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1019C>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432568	0.43224	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.38401	1.14;1.14;1.14	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.27524	0.0676	N	0.14661	0.345	0.54753	D	0.999989	B	0.25486	0.127	B	0.35859	0.212	T	0.09037	-1.0693	10	0.14252	T	0.57	-13.4052	16.5542	0.84481	0.0:0.0:1.0:0.0	.	340	Q5TGY1	TMCO4_HUMAN	V	340;340;300	ENSP00000294543:A340V;ENSP00000364269:A340V;ENSP00000364264:A300V	ENSP00000294543:A340V	A	-	2	0	TMCO4	19939880	1.000000	0.71417	0.998000	0.56505	0.603000	0.37013	9.114000	0.94329	2.506000	0.84524	0.655000	0.94253	GCC		0.577	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		21	6	0	0	0	1	0	21	6				
CACHD1	57685	broad.mit.edu	37	1	65124466	65124466	+	Missense_Mutation	SNP	A	A	C			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:65124466A>C	ENST00000371073.2	+	13	1861	c.1861A>C	c.(1861-1863)Act>Cct	p.T621P	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T570P			Q5VU97	CAHD1_HUMAN	cache domain containing 1	621					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAACCTCAACACTGTTCCCAG	0.463																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1861-1863)Act>Cct		cache domain containing 1							73.0	68.0	70.0					1																	65124466		2203	4299	6502	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65124466A>C	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1861A>C	1.37:g.65124466A>C	ENSP00000360113:p.Thr621Pro					CACHD1_ENST00000290039.5_Missense_Mutation_p.T570P|CACHD1_ENST00000495994.1_3'UTR	p.T621P			Q5VU97	CAHD1_HUMAN			13	1861	+			621					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.1861A>C		.	.	.	.	.	.	.	.	.	.	A	16.36	3.101865	0.56183	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24538	1.85;1.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	N	0.20685	0.6	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.05386	-1.0888	10	0.23302	T	0.38	-23.8506	15.7982	0.78428	1.0:0.0:0.0:0.0	.	621	Q5VU97	CAHD1_HUMAN	P	621;570	ENSP00000360113:T621P;ENSP00000290039:T570P	ENSP00000290039:T570P	T	+	1	0	CACHD1	64897054	1.000000	0.71417	0.996000	0.52242	0.862000	0.49288	8.923000	0.92808	2.132000	0.65825	0.533000	0.62120	ACT		0.463	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		11	8	0	0	0	1	0	11	8				
GPR50	9248	broad.mit.edu	37	X	150345211	150345211	+	Silent	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chrX:150345211G>A	ENST00000218316.3	+	1	87	c.18G>A	c.(16-18)gcG>gcA	p.A6A	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	6					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTAGCGGTTCCCACCC	0.557																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(16-18)gcG>gcA		G protein-coupled receptor 50							67.0	70.0	69.0					X																	150345211		1931	4111	6042	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345211G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.18G>A	X.37:g.150345211G>A						GPR50-AS1_ENST00000454196.1_RNA	p.A6A	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			1	87	+	Acute lymphoblastic leukemia(192;6.56e-05)		6					Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.18G>A	CCDS44012.1																																																																																				0.557	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		4	112	0	0	0	1	0	4	112				
AGAP6	414189	broad.mit.edu	37	10	51749117	51749117	+	Intron	SNP	G	G	A			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr10:51749117G>A	ENST00000374056.4	+	1	621				AGAP6_ENST00000412531.3_Silent_p.Q91Q			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q91Q(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAATATTCCAGAGGAACTCTC	0.358																																						ENST00000412531.3																			1	Substitution - coding silent(1)	p.Q91Q(1)	prostate(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(271-273)caG>caA		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001627	intron_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51749117G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.223+419G>A	10.37:g.51749117G>A						AGAP6_ENST00000374056.4_Intron	p.Q91Q	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN			2	345	+			91						Silent	SNP	ENST00000374056.4	37	c.273G>A																																																																																					0.358	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		5	67	0	0	0	1	0	5	67				
CROCCP3	114819	broad.mit.edu	37	1	16810763	16810763	+	RNA	DEL	G	G	-			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr1:16810763delG	ENST00000263511.4	-	0	1768					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AAGGTGGAGTGGATCAGGGCG	0.716																																						ENST00000263511.4																			0																																																			114819							g.chr1:16810763delG	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16810763delG								NR_023386.1						0	1768	-								Q96PW6	RNA	DEL	ENST00000263511.4	37																																																																																						0.716	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		2	4						2	4	---	---	---	---
CCDC183	84960	broad.mit.edu	37	9	139694454	139694455	+	Splice_Site	INS	-	-	AAGA	rs544503929|rs201098545	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr9:139694454_139694455insAAGA	ENST00000338005.6	+	4	306_307	c.271_272insAAGA	c.(271-273)gtg>gAAGAtg	p.V91fs	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Splice_Site_p.V121fs	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		91										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCCGACCCAGGTGGTGCGGGAG	0.688																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.e4-1		KIAA1984				1,3731		0,1,1865						3.9	0.8		dbSNP_126	19	31,7837		2,27,3905	no	frameshift-near-splice	KIAA1984	NM_001039374.4		2,28,5770	A1A1,A1R,RR		0.394,0.0268,0.2759				32,11568				SO:0001630	splice_region_variant	84960							g.chr9:139694454_139694455insAAGA																												ENST00000338005.6:c.271-1->AAGA	9.37:g.139694454_139694455insAAGA						KIAA1984_ENST00000371682.3_3'UTR	p.G91_splice	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	4	306_307	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	91					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Splice_Site	INS	ENST00000338005.6	37	c.270_splice	CCDS43906.1																																																																																				0.688	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		Frame_Shift_Ins	2	4						2	4	---	---	---	---
IQSEC3P1	100132450	broad.mit.edu	37	12	2861801	2861801	+	lincRNA	DEL	G	G	-			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr12:2861801delG	ENST00000540093.1	-	0	56																											CCGAGGGCGCGGGGCATTTGT	0.637																																						ENST00000540093.1																			0																																																			100132450							g.chr12:2861801delG																													12.37:g.2861801delG														0	56	-									RNA	DEL	ENST00000540093.1	37																																																																																						0.637	RP11-885B4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000398349.1			2	4						2	4	---	---	---	---
ABCC6P1	653190	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-	rs534869505	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		ccctgtctcgaaaaaaaaaaa	0.507													|||unknown(NO_COVERAGE)	1040	0.207668	0.2322	0.2075	5008	,	,		21098	0.1905		0.175	False		,,,				2504	0.226					ENST00000546162.2																			0																																																			653190							g.chr16:18593649delA	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18593649delA								NR_003569.1						0	805	+									RNA	DEL	ENST00000546162.2	37																																																																																						0.507	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		3	4						3	4	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			100271836							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			3	6						3	6	---	---	---	---
SCARNA15	677778	broad.mit.edu	37	20	41933319	41933321	+	RNA	DEL	AAA	AAA	-	rs570251544|rs79619980	byFrequency	TCGA-PR-A5PG-01A-11D-A35D-08	TCGA-PR-A5PG-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffef4988-378c-4c7c-a1d3-9dc6183c15e8	3f14e246-12e1-4c08-83bb-22ad230db737	g.chr20:41933319_41933321delAAA	ENST00000516384.1	+	0	125									small Cajal body-specific RNA 15																		TATCaatagcaaaaaaaaaaaaa	0.315																																						ENST00000516384.1																			0																																																			677778							g.chr20:41933319_41933321delAAA	AJ609485		15q25.2	2013-09-05			ENSG00000252690	ENSG00000252690		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32572	non-coding RNA	RNA, small nucleolar		612675					Standard	NR_003011		Approved	ACA45	uc002bjc.3				20.37:g.41933328_41933330delAAA														0	125	+									RNA	DEL	ENST00000516384.1	37																																																																																						0.315	SCARNA15.1-201	NOVEL	basic	snoRNA	snoRNA		NR_003011		2	4						2	4	---	---	---	---
