#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
DUSP10	11221	broad.mit.edu	37	1	221912532	221912532	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:221912532C>A	ENST00000366899.3	-	2	793	c.555G>T	c.(553-555)aaG>aaT	p.K185N	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	185	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGATGTGACTCTTGTTGTACT	0.512																																						ENST00000366899.3																			0				NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(553-555)aaG>aaT		dual specificity phosphatase 10							101.0	97.0	98.0					1																	221912532		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221912532C>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.555G>T	1.37:g.221912532C>A	ENSP00000355866:p.Lys185Asn					DUSP10_ENST00000323825.3_Intron	p.K185N	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	793	-			185			Rhodanese.		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.555G>T	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996740	0.54147	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.27557	1.66	5.44	2.6	0.31112	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	L	0.48642	1.525	0.80722	D	1	D	0.60160	0.987	P	0.50934	0.654	T	0.02257	-1.1187	10	0.40728	T	0.16	.	9.178	0.37123	0.0:0.7765:0.0:0.2235	.	185	Q9Y6W6	DUS10_HUMAN	N	185;130	ENSP00000355866:K185N	ENSP00000355866:K185N	K	-	3	2	DUSP10	219979155	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.224000	0.32539	0.298000	0.22638	-0.229000	0.12294	AAG		0.512	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		47	31	1	0	1.30916e-28	1	1.63321e-28	47	31				
FOXA3	3171	broad.mit.edu	37	19	46375995	46375995	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:46375995G>A	ENST00000302177.2	+	2	929	c.732G>A	c.(730-732)gcG>gcA	p.A244A		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	244					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCACCCCCGCGGCCACAGTCA	0.692																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(730-732)gcG>gcA		forkhead box A3							6.0	7.0	6.0					19																	46375995		2052	4124	6176	SO:0001819	synonymous_variant	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375995G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.732G>A	19.37:g.46375995G>A							p.A244A	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	929	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	244					A9LYI5|Q53F16|Q9UMW9	Silent	SNP	ENST00000302177.2	37	c.732G>A	CCDS12677.1																																																																																				0.692	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			11	3	0	0	0	1	0	11	3				
NPAT	4863	broad.mit.edu	37	11	108060031	108060031	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:108060031T>C	ENST00000278612.8	-	6	463	c.358A>G	c.(358-360)Atc>Gtc	p.I120V	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	120	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGCCGTTTGATTTCTGCAATT	0.423																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(358-360)Atc>Gtc		nuclear protein, ataxia-telangiectasia locus							176.0	169.0	171.0					11																	108060031		1930	4127	6057	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108060031T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.358A>G	11.37:g.108060031T>C	ENSP00000278612:p.Ile120Val						p.I120V	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	6	463	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	120			Interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.358A>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616638	0.46736	.	.	ENSG00000149308	ENST00000278612	T	0.04049	3.72	5.82	4.68	0.58851	.	0.092855	0.85682	D	0.000000	T	0.07279	0.0184	L	0.54323	1.7	0.31035	N	0.716968	B	0.34200	0.441	B	0.35240	0.198	T	0.02202	-1.1196	10	0.52906	T	0.07	-5.3679	11.6932	0.51527	0.0:0.0:0.1479:0.8521	.	120	Q14207	NPAT_HUMAN	V	120	ENSP00000278612:I120V	ENSP00000278612:I120V	I	-	1	0	NPAT	107565241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.936000	0.63506	1.008000	0.39264	-0.313000	0.08912	ATC		0.423	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		46	62	0	0	0	1	0	46	62				
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(568-570)gCc>gTc		regulation of nuclear pre-mRNA domain containing 1B							108.0	101.0	103.0					20																	36687836		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36687836C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.569C>T	20.37:g.36687836C>T	ENSP00000362532:p.Ala190Val						p.A190V	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			5	971	+			190					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.569C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667224	0.96745	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.4	5.4	0.78164	.	0.046127	0.85682	D	0.000000	T	0.71005	0.3289	M	0.68593	2.085	0.80722	D	1	P	0.51653	0.947	P	0.50537	0.643	T	0.74438	-0.3665	9	0.72032	D	0.01	-10.9352	18.3479	0.90328	0.0:1.0:0.0:0.0	.	190	Q9NQG5	RPR1B_HUMAN	V	190;72	.	ENSP00000362532:A190V	A	+	2	0	RPRD1B	36121250	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	GCC		0.413	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		4	122	0	0	0	1	0	4	122				
KRT35	3886	broad.mit.edu	37	17	39637100	39637100	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:39637100C>T	ENST00000393989.1	-	1	292	c.250G>A	c.(250-252)Ggt>Agt	p.G84S	KRT35_ENST00000246639.2_Missense_Mutation_p.G54S	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	84	Head.|Poly-Gly.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CAGCCCCCACCCCCACTGTAG	0.637																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(160-162)Ggt>Agt		keratin 35							31.0	36.0	34.0					17																	39637100		2180	4289	6469	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39637100C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.250G>A	17.37:g.39637100C>T	ENSP00000377558:p.Gly84Ser					KRT35_ENST00000393989.1_Missense_Mutation_p.G84S	p.G54S			Q92764	KRT35_HUMAN			1	292	-		Breast(137;0.000286)	84			Head.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.160G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	3.572	-0.087463	0.07097	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	T;T	0.81330	-1.46;-1.48	4.81	3.81	0.43845	.	0.100160	0.44483	D	0.000449	T	0.64238	0.2580	N	0.24115	0.695	0.34120	D	0.664025	B	0.06786	0.001	B	0.04013	0.001	T	0.61481	-0.7054	10	0.08837	T	0.75	.	11.2827	0.49203	0.0:0.8518:0.0:0.1482	.	84	Q92764	KRT35_HUMAN	S	54;84	ENSP00000246639:G54S;ENSP00000377558:G84S	ENSP00000246639:G54S	G	-	1	0	KRT35	36890626	0.186000	0.23225	0.465000	0.27155	0.501000	0.33797	4.218000	0.58554	2.488000	0.83962	0.462000	0.41574	GGT		0.637	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		24	51	0	0	0	1	0	24	51				
FAM184A	79632	broad.mit.edu	37	6	119327323	119327323	+	Intron	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:119327323T>C	ENST00000338891.7	-	7	2259				FAM184A_ENST00000352896.5_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000522284.1_Missense_Mutation_p.I492V|FAM184A_ENST00000521531.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A							extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						atgccaagaatgcctggtgct	0.443																																						ENST00000522284.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1474-1476)Att>Gtt		family with sequence similarity 184, member A							151.0	137.0	141.0					6																	119327323		876	1991	2867	SO:0001627	intron_variant	79632							g.chr6:119327323T>C	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1815+288A>G	6.37:g.119327323T>C						FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000338891.7_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron	p.I492V			Q8NB25	F184A_HUMAN			8	1849	-			0					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1474A>G	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	T	9.748	1.166634	0.21621	.	.	ENSG00000111879	ENST00000522284	T	0.23950	1.88	3.33	0.807	0.18714	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33954	-0.9848	6	0.87932	D	0	.	2.653	0.05004	0.2265:0.128:0.0:0.6455	.	.	.	.	V	492	ENSP00000429826:I492V	ENSP00000429826:I492V	I	-	1	0	FAM184A	119369022	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.156000	0.10100	0.170000	0.19704	0.533000	0.62120	ATT		0.443	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		30	64	0	0	0	1	0	30	64				
SIDT1	54847	broad.mit.edu	37	3	113327358	113327358	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:113327358C>T	ENST00000264852.4	+	17	2421	c.1695C>T	c.(1693-1695)tgC>tgT	p.C565C	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.C565C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	565					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACCATGTCTGCCCTAATTATT	0.423																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1693-1695)tgC>tgT		SID1 transmembrane family, member 1							207.0	195.0	199.0					3																	113327358		2203	4300	6503	SO:0001819	synonymous_variant	54847					integral to membrane		g.chr3:113327358C>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1695C>T	3.37:g.113327358C>T						SIDT1_ENST00000393830.3_Silent_p.C565C|SIDT1_ENST00000463226.1_3'UTR	p.C565C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			17	2421	+			565					Q17RR4	Silent	SNP	ENST00000264852.4	37	c.1695C>T	CCDS2974.1																																																																																				0.423	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		58	226	0	0	0	1	0	58	226				
COL11A1	1301	broad.mit.edu	37	1	103377765	103377765	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:103377765G>T	ENST00000370096.3	-	54	4348	c.4036C>A	c.(4036-4038)Cct>Act	p.P1346T	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1307T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1230T|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1358T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1346	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGCCAGGAGGACCCTATAAA	0.388																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4072-4074)Cct>Act		collagen, type XI, alpha 1							23.0	24.0	24.0					1																	103377765		2203	4296	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103377765G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4036C>A	1.37:g.103377765G>T	ENSP00000359114:p.Pro1346Thr					COL11A1_ENST00000512756.1_Missense_Mutation_p.P1230T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1346T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1307T	p.P1358T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	54	4389	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1346			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4072C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696597	0.68386	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.987;1.0;0.999	D;D;D;D;D	0.87578	0.987;0.998;0.975;0.994;0.994	D	0.96295	0.9217	10	0.59425	D	0.04	.	19.2162	0.93780	0.0:0.0:1.0:0.0	.	1230;1307;1358;1346;566	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	1346;1358;1307;566;1230	ENSP00000359114:P1346T;ENSP00000351163:P1358T;ENSP00000302551:P1307T;ENSP00000426533:P1230T	ENSP00000302551:P1307T	P	-	1	0	COL11A1	103150353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.364000	0.59479	2.550000	0.86006	0.650000	0.86243	CCT		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		6	10	1	0	0.000157383	1	0.000164567	6	10				
COL18A1	80781	broad.mit.edu	37	21	46875728	46875728	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr21:46875728C>T	ENST00000359759.4	+	1	305	c.284C>T	c.(283-285)aCt>aTt	p.T95I	COL18A1_ENST00000355480.5_Missense_Mutation_p.T95I|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	95					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GACACCCCCACTTCTGCCGAG	0.652																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(283-285)aCt>aTt		collagen, type XVIII, alpha 1							45.0	56.0	52.0					21																	46875728		2099	4218	6317	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46875728C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.284C>T	21.37:g.46875728C>T	ENSP00000352798:p.Thr95Ile					COL18A1_ENST00000355480.5_Missense_Mutation_p.T95I|COL18A1_ENST00000400337.2_Intron	p.T95I			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	1	305	+			95					A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.284C>T		.	.	.	.	.	.	.	.	.	.	C	12.92	2.082930	0.36758	.	.	ENSG00000182871	ENST00000355480;ENST00000359759;ENST00000539645	T;T	0.37915	1.17;1.17	3.68	3.68	0.42216	Domain of unknown function DUF959, collagen XVIII, N-terminal (1);	0.981129	0.08276	N	0.970706	T	0.34279	0.0892	L	0.40543	1.245	0.09310	N	1	P;P	0.44946	0.846;0.815	B;B	0.42882	0.401;0.39	T	0.20538	-1.0272	10	0.66056	D	0.02	.	9.5891	0.39534	0.0:0.7849:0.2151:0.0	.	95;95	P39060;P39060-1	COIA1_HUMAN;.	I	95	ENSP00000347665:T95I;ENSP00000352798:T95I	ENSP00000347665:T95I	T	+	2	0	COL18A1	45700156	0.001000	0.12720	0.022000	0.16811	0.190000	0.23558	0.949000	0.29109	1.781000	0.52344	0.313000	0.20887	ACT		0.652	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			37	61	0	0	0	1	0	37	61				
ADAM22	53616	broad.mit.edu	37	7	87792431	87792431	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:87792431T>C	ENST00000265727.7	+	23	2091	c.2012T>C	c.(2011-2013)gTg>gCg	p.V671A	ADAM22_ENST00000398209.3_Missense_Mutation_p.V671A|ADAM22_ENST00000398201.4_Missense_Mutation_p.V671A|ADAM22_ENST00000315984.7_Missense_Mutation_p.V671A|ADAM22_ENST00000398204.4_Missense_Mutation_p.V671A			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	671	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCTTCCTGTGGCTTCTTTC	0.423																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2011-2013)gTg>gCg		ADAM metallopeptidase domain 22							145.0	131.0	136.0					7																	87792431		1863	4102	5965	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792431T>C	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2012T>C	7.37:g.87792431T>C	ENSP00000265727:p.Val671Ala					ADAM22_ENST00000398201.4_Missense_Mutation_p.V671A|ADAM22_ENST00000315984.7_Missense_Mutation_p.V671A|ADAM22_ENST00000265727.7_Missense_Mutation_p.V671A|ADAM22_ENST00000398209.3_Missense_Mutation_p.V671A	p.V671A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2335	+	Esophageal squamous(14;0.00202)		671			Cys-rich.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2012T>C	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	T	9.606	1.130058	0.21041	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.46451	4.53;4.5;4.5;4.51;4.52;4.51;0.87	5.83	4.7	0.59300	ADAM, cysteine-rich (1);	0.337248	0.31859	N	0.006955	T	0.23846	0.0577	N	0.16790	0.44	0.25954	N	0.982712	B;B;B;B	0.10296	0.003;0.001;0.0;0.003	B;B;B;B	0.16289	0.01;0.015;0.004;0.015	T	0.12630	-1.0540	10	0.15499	T	0.54	.	9.1378	0.36886	0.0:0.1152:0.0:0.8848	.	723;671;671;671	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	A	671;671;671;671;671;638;29	ENSP00000381262:V671A;ENSP00000381260:V671A;ENSP00000265727:V671A;ENSP00000315900:V671A;ENSP00000381267:V671A;ENSP00000381261:V638A;ENSP00000396233:V29A	ENSP00000265727:V671A	V	+	2	0	ADAM22	87630367	0.471000	0.25862	1.000000	0.80357	0.755000	0.42902	3.093000	0.50217	2.220000	0.72140	0.528000	0.53228	GTG		0.423	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		36	62	0	0	0	1	0	36	62				
NHLRC4	283948	broad.mit.edu	37	16	618295	618295	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:618295G>T	ENST00000424439.2	+	2	905	c.248G>T	c.(247-249)tGc>tTc	p.C83F	NHLRC4_ENST00000540585.1_Missense_Mutation_p.C83F|PIGQ_ENST00000470411.2_5'Flank|PIGQ_ENST00000409527.2_Intron|PIGQ_ENST00000321878.5_5'Flank|PIGQ_ENST00000026218.5_5'Flank			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	83																	CCACCCATCTGCCTGGTGTCA	0.637																																						ENST00000424439.2																			0											c.(247-249)tGc>tTc		NHL repeat containing 4							17.0	21.0	20.0					16																	618295		1968	4129	6097	SO:0001583	missense	283948							g.chr16:618295G>T		CCDS45366.1	16p13.3	2013-03-28			ENSG00000257108	ENSG00000257108			26700	protein-coding gene	gene with protein product						12477932	Standard	NM_001301159		Approved		uc002chl.3	P0CG21	OTTHUMG00000047857	ENST00000424439.2:c.248G>T	16.37:g.618295G>T	ENSP00000410858:p.Cys83Phe					NHLRC4_ENST00000540585.1_Missense_Mutation_p.C83F|PIGQ_ENST00000409527.2_Intron	p.C83F			P0CG21	NHLC4_HUMAN			2	905	+			83					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000424439.2	37	c.248G>T	CCDS45366.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479749	0.44044	.	.	ENSG00000257108	ENST00000424439;ENST00000540585	D;D	0.89875	-2.58;-2.58	3.63	3.63	0.41609	Six-bladed beta-propeller, TolB-like (1);	0.422724	0.19384	N	0.115592	D	0.91260	0.7245	M	0.62016	1.91	0.36361	D	0.860687	D	0.61697	0.99	P	0.56398	0.797	D	0.92896	0.6335	9	.	.	.	.	14.5496	0.68057	0.0:0.0:1.0:0.0	.	83	P0CG21	NHLC4_HUMAN	F	83	ENSP00000410858:C83F;ENSP00000442223:C83F	.	C	+	2	0	NHLRC4	558296	1.000000	0.71417	0.265000	0.24526	0.513000	0.34164	2.361000	0.44160	1.906000	0.55180	0.585000	0.79938	TGC		0.637	NHLRC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397724.1	NM_176677		9	14	1	0	0.335167	1	0.337849	9	14				
MBD6	114785	broad.mit.edu	37	12	57919495	57919495	+	Silent	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:57919495T>C	ENST00000355673.3	+	6	1100	c.744T>C	c.(742-744)ccT>ccC	p.P248P	MBD6_ENST00000431731.2_Silent_p.P248P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	248	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCCGGCCCCTCATGCCTCCT	0.622																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(742-744)ccT>ccC		methyl-CpG binding domain protein 6							133.0	158.0	149.0					12																	57919495		2203	4300	6503	SO:0001819	synonymous_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919495T>C	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.744T>C	12.37:g.57919495T>C						MBD6_ENST00000431731.2_Silent_p.P248P	p.P248P	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1100	+			248			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.744T>C	CCDS8944.1																																																																																				0.622	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			4	159	0	0	0	1	0	4	159				
ABCC6	368	broad.mit.edu	37	16	16259677	16259677	+	Missense_Mutation	SNP	C	C	G	rs72664230		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:16259677C>G	ENST00000205557.7	-	23	3138	c.3109G>C	c.(3109-3111)Gag>Cag	p.E1037Q		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1037	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGTGTCCGCTCAAAGAAGCTG	0.592																																						ENST00000205557.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43						c.(3109-3111)Gag>Cag		ATP-binding cassette, sub-family C (CFTR/MRP), member 6							94.0	75.0	82.0					16																	16259677		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16259677C>G	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3109G>C	16.37:g.16259677C>G	ENSP00000205557:p.Glu1037Gln						p.E1037Q	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	23	3138	-			1037			ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.3109G>C	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246866	0.80024	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.90133	-2.62	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.49916	U	0.000140	D	0.95519	0.8544	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95686	0.8736	10	0.87932	D	0	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	1037	O95255	MRP6_HUMAN	Q	1037;42	ENSP00000205557:E1037Q	ENSP00000205557:E1037Q	E	-	1	0	ABCC6	16167178	1.000000	0.71417	0.980000	0.43619	0.365000	0.29674	7.371000	0.79600	2.586000	0.87340	0.561000	0.74099	GAG		0.592	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			17	119	0	0	0	1	0	17	119				
ACAD10	80724	broad.mit.edu	37	12	112182723	112182723	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:112182723G>C	ENST00000313698.4	+	13	2146	c.1991G>C	c.(1990-1992)aGa>aCa	p.R664T	ACAD10_ENST00000392636.2_Missense_Mutation_p.R266T|ACAD10_ENST00000455480.2_Missense_Mutation_p.R695T|ACAD10_ENST00000549590.1_Missense_Mutation_p.R664T|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	664						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCACCTGTCAGAGAGCTGTAT	0.582																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2083-2085)aGa>aCa		acyl-CoA dehydrogenase family, member 10							70.0	68.0	68.0					12																	112182723		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182723G>C	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1991G>C	12.37:g.112182723G>C	ENSP00000325137:p.Arg664Thr					ACAD10_ENST00000549590.1_Missense_Mutation_p.R664T|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.R266T|ACAD10_ENST00000313698.4_Missense_Mutation_p.R664T	p.R695T	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2261	+			664					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2084G>C	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489902	0.26686	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.99732	-6.57;3.25;-6.57;-6.57	5.63	2.83	0.33086	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.456245	0.21132	N	0.079628	D	0.97929	0.9319	L	0.33245	0.995	0.09310	N	1	B;B;B	0.34015	0.071;0.053;0.435	B;B;B	0.33620	0.05;0.158;0.167	D	0.97371	0.9976	10	0.45353	T	0.12	.	3.4484	0.07488	0.3285:0.0:0.4993:0.1722	.	695;664;664	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	T	266;664;664;695;57;664;245	ENSP00000376411:R266T;ENSP00000446959:R664T;ENSP00000389813:R695T;ENSP00000325137:R664T	ENSP00000325137:R664T	R	+	2	0	ACAD10	110667106	0.831000	0.29352	0.005000	0.12908	0.675000	0.39556	1.360000	0.34125	0.746000	0.32786	0.655000	0.94253	AGA		0.582	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		17	117	0	0	0	1	0	17	117				
GLUD1	2746	broad.mit.edu	37	10	88834371	88834371	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:88834371C>T	ENST00000277865.4	-	4	679	c.583G>A	c.(583-585)Gat>Aat	p.D195N	GLUD1_ENST00000537649.1_Splice_Site_p.D28N|GLUD1_ENST00000544149.1_Splice_Site_p.D62N	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	195					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	AATTCATTATCCTGTAAAATA	0.299																																						ENST00000277865.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22						c.e4-1		glutamate dehydrogenase 1	L-Glutamic Acid(DB00142)|NADH(DB00157)						62.0	60.0	61.0					10																	88834371		2203	4296	6499	SO:0001630	splice_region_variant	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88834371C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.583-1G>A	10.37:g.88834371C>T						GLUD1_ENST00000537649.1_Splice_Site_p.D28_splice|GLUD1_ENST00000544149.1_Splice_Site_p.D62_splice	p.D195_splice	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN			4	679	-			195					B3KV55|B4DGN5|Q5TBU3	Splice_Site	SNP	ENST00000277865.4	37	c.582_splice	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440004	0.63067	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.97016	-4.21;-4.21;-4.2	5.42	5.42	0.78866	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.097228	0.64402	D	0.000002	D	0.95680	0.8595	L	0.60067	1.865	0.80722	D	1	B;B	0.34214	0.442;0.442	B;B	0.40134	0.32;0.32	D	0.94427	0.7646	10	0.29301	T	0.29	-3.7222	18.865	0.92289	0.0:1.0:0.0:0.0	.	62;195	B4DGN5;P00367	.;DHE3_HUMAN	N	195;152;28;127;62	ENSP00000277865:D195N;ENSP00000439291:D28N;ENSP00000444732:D62N	ENSP00000277865:D195N	D	-	1	0	GLUD1	88824351	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.464000	0.80887	2.559000	0.86315	0.579000	0.79373	GAT		0.299	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271	Missense_Mutation	12	105	0	0	0	1	0	12	105				
FBN1	2200	broad.mit.edu	37	15	48826281	48826281	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:48826281A>T	ENST00000316623.5	-	8	1313	c.858T>A	c.(856-858)tgT>tgA	p.C286*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	286	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTACCTTCACATTTTTGTG	0.428																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(856-858)tgT>tgA		fibrillin 1							301.0	309.0	307.0					15																	48826281		2197	4296	6493	SO:0001587	stop_gained	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48826281A>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.858T>A	15.37:g.48826281A>T	ENSP00000325527:p.Cys286*						p.C286*	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	8	1313	-		all_lung(180;0.00279)	286			EGF-like 4; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	c.858T>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	40	8.484685	0.98832	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.4	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5113	0.39078	0.7919:0.0:0.2081:0.0	.	.	.	.	X	286	.	ENSP00000325527:C286X	C	-	3	2	FBN1	46613573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.644000	0.46613	0.451000	0.26802	-0.256000	0.11100	TGT		0.428	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			164	365	0	0	0	1	0	164	365				
POTEA	340441	broad.mit.edu	37	8	43173698	43173698	+	RNA	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:43173698C>G	ENST00000522175.2	+	0	984							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTAGTTCCACAAAGAAA	0.408																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							151.0	146.0	148.0					8																	43173698		2194	4295	6489			340441							g.chr8:43173698C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173698C>G										Q6S8J7	POTEA_HUMAN			0	984	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.408	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		40	70	0	0	0	1	0	40	70				
ANKRD30B	374860	broad.mit.edu	37	18	14852093	14852093	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:14852093C>G	ENST00000358984.4	+	36	3973	c.3793C>G	c.(3793-3795)Caa>Gaa	p.Q1265E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1265										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAACATGCACAAAGAGACCG	0.373																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3793-3795)Caa>Gaa		ankyrin repeat domain 30B							68.0	50.0	56.0					18																	14852093		692	1591	2283	SO:0001583	missense	374860							g.chr18:14852093C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3793C>G	18.37:g.14852093C>G	ENSP00000351875:p.Gln1265Glu						p.Q1265E	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			36	3973	+			1350					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3793C>G	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	0.638	-0.814562	0.02776	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.22743	1.94	1.39	0.48	0.16804	.	.	.	.	.	T	0.29945	0.0749	M	0.66378	2.025	0.41287	D	0.986955	P;P	0.46578	0.88;0.877	P;P	0.53518	0.636;0.728	T	0.06267	-1.0836	9	0.44086	T	0.13	.	5.9818	0.19411	0.0:0.8093:0.0:0.1907	.	1350;1265	Q9BXX2;F8WAG3	AN30B_HUMAN;.	E	1265;659;685	ENSP00000351875:Q1265E	ENSP00000277669:Q685E	Q	+	1	0	ANKRD30B	14842093	0.989000	0.36119	0.080000	0.20451	0.023000	0.10783	3.036000	0.49767	0.161000	0.19458	-1.195000	0.01675	CAA		0.373	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	25	0	0	0	1	0	3	25				
THEMIS	387357	broad.mit.edu	37	6	128134538	128134538	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:128134538G>A	ENST00000368248.2	-	4	1396	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	THEMIS_ENST00000537166.1_Silent_p.I381I|THEMIS_ENST00000543064.1_Silent_p.I416I|THEMIS_ENST00000368250.1_Silent_p.I337I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	416	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTTTTTGAGGATTTTTTCAC	0.448																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1009-1011)atC>atT		thymocyte selection associated							85.0	89.0	88.0					6																	128134538		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134538G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1248C>T	6.37:g.128134538G>A						THEMIS_ENST00000543064.1_Silent_p.I416I|THEMIS_ENST00000537166.1_Silent_p.I381I|THEMIS_ENST00000368248.2_Silent_p.I416I	p.I337I			Q8N1K5	THMS1_HUMAN			5	1509	-			416			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.1011C>T	CCDS34534.1																																																																																				0.448	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		42	83	0	0	0	1	0	42	83				
GDI2	2665	broad.mit.edu	37	10	5808025	5808025	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:5808025C>G	ENST00000380191.4	-	11	1572	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.E432Q|GDI2_ENST00000380181.3_Missense_Mutation_p.E383Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	428					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAGTCAAACTCTGATCCTGTC	0.358																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(1282-1284)Gag>Cag		GDP dissociation inhibitor 2							218.0	192.0	201.0					10																	5808025		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5808025C>G	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1282G>C	10.37:g.5808025C>G	ENSP00000369538:p.Glu428Gln					GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.E383Q|GDI2_ENST00000380132.4_Missense_Mutation_p.E432Q	p.E428Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			11	1572	-			428					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.1282G>C	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058410	0.55325	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181	T;T;T	0.78246	-1.16;-1.16;-1.16	5.93	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.87124	0.6099	M	0.82823	2.61	0.80722	D	1	B;B;B	0.32302	0.363;0.363;0.136	P;P;P	0.50896	0.653;0.451;0.451	D	0.86981	0.2104	10	0.51188	T	0.08	-19.128	14.7569	0.69572	0.0:0.9302:0.0:0.0698	.	432;383;428	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Q	428;432;383	ENSP00000369538:E428Q;ENSP00000369475:E432Q;ENSP00000369528:E383Q	ENSP00000369475:E432Q	E	-	1	0	GDI2	5848031	1.000000	0.71417	0.988000	0.46212	0.399000	0.30720	7.666000	0.83877	1.520000	0.48965	0.557000	0.71058	GAG		0.358	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		18	63	0	0	0	1	0	18	63				
HIF1A	3091	broad.mit.edu	37	14	62213681	62213681	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:62213681A>G	ENST00000337138.4	+	15	2624	c.2359A>G	c.(2359-2361)Atg>Gtg	p.M787V	HIF1A_ENST00000539097.1_Missense_Mutation_p.M811V|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.M788V|HIF1A_ENST00000557538.1_Missense_Mutation_p.M728V|HIF1A_ENST00000323441.6_3'UTR|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	787	CTAD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GGGGCAATCAATGGATGAAAG	0.378																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(2362-2364)Atg>Gtg		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							176.0	166.0	169.0					14																	62213681		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62213681A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2359A>G	14.37:g.62213681A>G	ENSP00000338018:p.Met787Val					HIF1A_ENST00000539097.1_Missense_Mutation_p.M811V|HIF1A_ENST00000557538.1_Missense_Mutation_p.M728V|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_3'UTR|HIF1A_ENST00000337138.4_Missense_Mutation_p.M787V	p.M788V			Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	15	2627	+			787			CTAD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.2362A>G	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	7.232	0.599557	0.13939	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000557538;ENST00000539097	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.61	4.44	0.53790	HIF-1 alpha, transactivation domain, C-terminal (1);	0.904790	0.09913	N	0.739514	T	0.25827	0.0629	N	0.08118	0	0.33434	D	0.581479	B;B	0.16802	0.019;0.019	B;B	0.24701	0.055;0.055	T	0.28332	-1.0047	10	0.41790	T	0.15	.	8.144	0.31100	0.7257:0.1403:0.0:0.134	.	788;787	A8MYV6;Q16665	.;HIF1A_HUMAN	V	538;728;787;788;728;811	ENSP00000338018:M787V;ENSP00000378446:M788V;ENSP00000451696:M728V;ENSP00000437955:M811V	ENSP00000338018:M787V	M	+	1	0	HIF1A	61283434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.513000	0.45494	1.028000	0.39785	0.533000	0.62120	ATG		0.378	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		22	163	0	0	0	1	0	22	163				
FLG	2312	broad.mit.edu	37	1	152283569	152283569	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:152283569G>T	ENST00000368799.1	-	3	3828	c.3793C>A	c.(3793-3795)Cac>Aac	p.H1265N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1265	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCCTGGTGCCTGCTTGTC	0.557									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3793-3795)Cac>Aac		filaggrin							268.0	252.0	258.0					1																	152283569		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283569G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3793C>A	1.37:g.152283569G>T	ENSP00000357789:p.His1265Asn					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1265N	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3828	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1265			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3793C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.176	0.218056	0.09810	.	.	ENSG00000143631	ENST00000368799	T	0.02197	4.4	3.39	1.13	0.20643	.	.	.	.	.	T	0.00241	0.0007	N	0.00237	-1.79	0.09310	N	1	B	0.15719	0.014	B	0.14023	0.01	T	0.39583	-0.9607	9	0.30078	T	0.28	.	8.066	0.30661	0.0:0.0:0.4976:0.5024	.	1265	P20930	FILA_HUMAN	N	1265	ENSP00000357789:H1265N	ENSP00000357789:H1265N	H	-	1	0	FLG	150550193	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.539000	0.06113	0.508000	0.28173	0.399000	0.26434	CAC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		115	292	1	0	1.06059e-47	1	1.34984e-47	115	292				
METTL3	56339	broad.mit.edu	37	14	21971933	21971933	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:21971933G>A	ENST00000298717.4	-	2	343	c.192C>T	c.(190-192)agC>agT	p.S64S	METTL3_ENST00000538267.1_Silent_p.S64S	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	64					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTGAAGCTGTGCTGGGCTTAG	0.517																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(190-192)agC>agT		methyltransferase like 3							156.0	147.0	150.0					14																	21971933		2203	4300	6503	SO:0001819	synonymous_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971933G>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.192C>T	14.37:g.21971933G>A						METTL3_ENST00000538267.1_Silent_p.S64S	p.S64S	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	2	343	-	all_cancers(95;0.000628)		64					O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	c.192C>T	CCDS32044.1																																																																																				0.517	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		147	116	0	0	0	1	0	147	116				
CHORDC1	26973	broad.mit.edu	37	11	89935704	89935704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:89935704G>A	ENST00000320585.6	-	11	1277	c.868C>T	c.(868-870)Cga>Tga	p.R290*	CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.R271*|CHORDC1_ENST00000529987.1_Nonsense_Mutation_p.R102*|CHORDC1_ENST00000529726.1_Nonsense_Mutation_p.R102*	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	290	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ACATAACTTCGCTTTACATCA	0.383																																						ENST00000529726.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11						c.(304-306)Cga>Tga		cysteine and histidine-rich domain (CHORD) containing 1							67.0	60.0	62.0					11																	89935704		2200	4298	6498	SO:0001587	stop_gained	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89935704G>A	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.868C>T	11.37:g.89935704G>A	ENSP00000319255:p.Arg290*					CHORDC1_ENST00000529987.1_Nonsense_Mutation_p.R102*|CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.R271*|CHORDC1_ENST00000320585.6_Nonsense_Mutation_p.R290*	p.R102*			Q9UHD1	CHRD1_HUMAN			4	4217	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	290			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Nonsense_Mutation	SNP	ENST00000320585.6	37	c.304C>T	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524499	0.96431	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	.	.	.	5.43	3.38	0.38709	.	0.061291	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.5003	11.1232	0.48302	0.0:0.0:0.4711:0.5289	.	.	.	.	X	290;102;271;102	.	.	R	-	1	2	CHORDC1	89575352	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	4.759000	0.62227	1.273000	0.44346	-0.175000	0.13238	CGA		0.383	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		10	54	0	0	0	1	0	10	54				
LRRN1	57633	broad.mit.edu	37	3	3886758	3886758	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:3886758C>A	ENST00000319331.3	+	2	1194	c.433C>A	c.(433-435)Ctt>Att	p.L145I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	145						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCTCAGCAACCTTCAAGAACT	0.443																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(433-435)Ctt>Att		leucine rich repeat neuronal 1							80.0	83.0	82.0					3																	3886758		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886758C>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.433C>A	3.37:g.3886758C>A	ENSP00000314901:p.Leu145Ile					SUMF1_ENST00000534863.1_Intron	p.L145I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1194	+			145					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.433C>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074766	0.76415	.	.	ENSG00000175928	ENST00000319331	T	0.69175	-0.38	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.82604	0.5073	M	0.85710	2.77	0.50039	D	0.999843	D	0.89917	1.0	D	0.87578	0.998	D	0.83979	0.0331	10	0.54805	T	0.06	.	13.202	0.59774	0.0:0.9277:0.0:0.0723	.	145	Q6UXK5	LRRN1_HUMAN	I	145	ENSP00000314901:L145I	ENSP00000314901:L145I	L	+	1	0	LRRN1	3861758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.911000	0.63328	2.713000	0.92767	0.655000	0.94253	CTT		0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		23	46	1	0	3.5997e-14	1	4.19965e-14	23	46				
HELZ	9931	broad.mit.edu	37	17	65105671	65105671	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:65105671G>A	ENST00000358691.5	-	29	4216	c.4050C>T	c.(4048-4050)caC>caT	p.H1350H	HELZ_ENST00000580168.1_Silent_p.H1351H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1350						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CATACTGTGCGTGGGGAGCAG	0.483																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4048-4050)caC>caT		helicase with zinc finger							192.0	194.0	193.0					17																	65105671		2006	4172	6178	SO:0001819	synonymous_variant	9931							g.chr17:65105671G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4050C>T	17.37:g.65105671G>A						HELZ_ENST00000580168.1_Silent_p.H1351H	p.H1350H	NM_014877.3	NP_055692.2					29	4216	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.4050C>T	CCDS42374.1																																																																																				0.483	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		29	49	0	0	0	1	0	29	49				
CCDC129	223075	broad.mit.edu	37	7	31692301	31692301	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:31692301G>T	ENST00000407970.3	+	14	3031	c.2993G>T	c.(2992-2994)gGg>gTg	p.G998V	CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.G906V|CCDC129_ENST00000319386.3_Missense_Mutation_p.G850V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	998										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGTTCAGGTGGGACCCAGTTG	0.552																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2548-2550)gGg>gTg		coiled-coil domain containing 129							78.0	69.0	72.0					7																	31692301		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692301G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2993G>T	7.37:g.31692301G>T	ENSP00000384416:p.Gly998Val					CCDC129_ENST00000409210.1_Missense_Mutation_p.G906V|CCDC129_ENST00000407970.3_Missense_Mutation_p.G998V|CCDC129_ENST00000451887.2_Intron	p.G850V			Q6ZRS4	CC129_HUMAN			14	3542	+			998					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2549G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	8.019	0.759296	0.15846	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000538406;ENST00000409210	T;T;T	0.16324	2.35;2.62;2.35	4.37	-8.74	0.00838	.	1.185900	0.06461	N	0.729446	T	0.05364	0.0142	N	0.04043	-0.29	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.002;0.002;0.001	T	0.34403	-0.9830	10	0.34782	T	0.22	1.1009	3.1442	0.06466	0.1859:0.2464:0.436:0.1317	.	1008;998;850	F5H2J8;Q6ZRS4;Q6ZRS4-2	.;CC129_HUMAN;.	V	850;998;1008;906	ENSP00000313062:G850V;ENSP00000384416:G998V;ENSP00000387214:G906V	ENSP00000313062:G850V	G	+	2	0	CCDC129	31658826	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-0.551000	0.06027	-2.055000	0.00899	0.655000	0.94253	GGG		0.552	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		24	57	1	0	1.64293e-13	1	1.89917e-13	24	57				
ARHGAP15	55843	broad.mit.edu	37	2	144276846	144276846	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:144276846G>A	ENST00000295095.6	+	10	1005	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	280					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCAAATTTTTGGCTCTCATCT	0.388																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(838-840)Ggc>Agc		Rho GTPase activating protein 15							161.0	153.0	156.0					2																	144276846		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144276846G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.838G>A	2.37:g.144276846G>A	ENSP00000295095:p.Gly280Ser					RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	p.G280S	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	10	1005	+			280					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.838G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116418	0.77323	.	.	ENSG00000075884	ENST00000295095	T	0.47177	0.85	5.94	5.94	0.96194	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.72748	0.3499	M	0.83603	2.65	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.74067	-0.3784	10	0.59425	D	0.04	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	280	Q53QZ3	RHG15_HUMAN	S	280	ENSP00000295095:G280S	ENSP00000295095:G280S	G	+	1	0	ARHGAP15	143993316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.564000	0.82326	2.820000	0.97059	0.650000	0.86243	GGC		0.388	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		26	63	0	0	0	1	0	26	63				
SNX4	8723	broad.mit.edu	37	3	125223552	125223552	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:125223552T>C	ENST00000251775.4	-	2	202	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	SNX4_ENST00000536067.1_Intron|SNX4_ENST00000473417.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	60					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						GAAACACTGATTTCTATCTTC	0.338																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(178-180)Atc>Gtc		sorting nexin 4							161.0	138.0	146.0					3																	125223552		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125223552T>C	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.178A>G	3.37:g.125223552T>C	ENSP00000251775:p.Ile60Val					SNX4_ENST00000536067.1_Intron|SNX4_ENST00000473417.1_5'UTR	p.I60V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			2	202	-			60					B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.178A>G	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882469	0.72294	.	.	ENSG00000114520	ENST00000251775	T	0.35236	1.32	4.75	4.75	0.60458	Phox homologous domain (4);	0.101801	0.64402	D	0.000003	T	0.50820	0.1638	L	0.56396	1.775	0.80722	D	1	D	0.63046	0.992	P	0.62813	0.907	T	0.42632	-0.9440	10	0.20519	T	0.43	-9.7558	14.4093	0.67103	0.0:0.0:0.0:1.0	.	60	O95219	SNX4_HUMAN	V	60	ENSP00000251775:I60V	ENSP00000251775:I60V	I	-	1	0	SNX4	126706242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.928000	0.75846	1.983000	0.57843	0.533000	0.62120	ATC		0.338	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		17	48	0	0	0	1	0	17	48				
EEF1D	1936	broad.mit.edu	37	8	144671495	144671495	+	Intron	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:144671495C>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000423316.2_Missense_Mutation_p.G253C|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532741.1_Missense_Mutation_p.G303C|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G253C|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000526838.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGGATGGCCGTCAAACAGG	0.706																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(907-909)Ggc>Tgc		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							5.0	7.0	6.0					8																	144671495		2050	4119	6169	SO:0001627	intron_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144671495C>A	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2476G>T	8.37:g.144671495C>A						EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G253C|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G253C	p.G303C			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1135	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		31					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.907G>T	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270568	0.59540	.	.	ENSG00000104529	ENST00000532741;ENST00000442189;ENST00000423316;ENST00000356793;ENST00000337369;ENST00000526710;ENST00000531281	.	.	.	4.24	4.24	0.50183	.	0.332241	0.32314	N	0.006267	T	0.64994	0.2649	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	P;P;D	0.64687	0.792;0.892;0.928	T	0.66999	-0.5781	9	0.72032	D	0.01	.	8.0967	0.30833	0.0:0.8136:0.0:0.1864	.	253;303;253	D3DWK1;E9PRY8;P29692-2	.;.;.	C	303;253;253;205;253;253;253	.	ENSP00000338323:G253C	G	-	1	0	EEF1D	144742638	0.982000	0.34865	0.992000	0.48379	0.904000	0.53231	2.384000	0.44362	2.194000	0.70268	0.561000	0.74099	GGC		0.706	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		5	8	1	0	0.014758	1	0.014996	5	8				
OR6C70	390327	broad.mit.edu	37	12	55863563	55863563	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:55863563G>A	ENST00000327335.4	-	1	359	c.360C>T	c.(358-360)cgC>cgT	p.R120R	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGGCAACATAGCGATCATAGG	0.388																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(358-360)cgC>cgT		olfactory receptor, family 6, subfamily C, member 70							79.0	80.0	80.0					12																	55863563		2203	4300	6503	SO:0001819	synonymous_variant	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863563G>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.360C>T	12.37:g.55863563G>A						RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	p.R120R	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	359	-			120						Silent	SNP	ENST00000327335.4	37	c.360C>T	CCDS31825.1																																																																																				0.388	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			16	103	0	0	0	1	0	16	103				
ZNF516	9658	broad.mit.edu	37	18	74091089	74091089	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:74091089G>C	ENST00000443185.2	-	4	3298	c.2981C>G	c.(2980-2982)gCt>gGt	p.A994G	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	994					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TAGAGGAGGAGCGCCCCCTTC	0.667																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2980-2982)gCt>gGt		zinc finger protein 516																																				SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091089G>C	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2981C>G	18.37:g.74091089G>C	ENSP00000394757:p.Ala994Gly					ZNF516_ENST00000524431.2_5'UTR	p.A994G	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3298	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	994						Missense_Mutation	SNP	ENST00000443185.2	37	c.2981C>G		.	.	.	.	.	.	.	.	.	.	G	1.921	-0.448234	0.04572	.	.	ENSG00000101493	ENST00000443185	T	0.09911	2.93	0.226	0.226	0.15353	.	2.445900	0.02789	U	0.121824	T	0.07279	0.0184	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33111	-0.9881	8	0.25106	T	0.35	.	.	.	.	.	994	Q92618	ZN516_HUMAN	G	994	ENSP00000394757:A994G	ENSP00000394757:A994G	A	-	2	0	ZNF516	72220077	0.858000	0.29795	0.022000	0.16811	0.241000	0.25554	1.748000	0.38308	0.301000	0.22738	0.306000	0.20318	GCT		0.667	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		15	34	0	0	0	1	0	15	34				
SLITRK1	114798	broad.mit.edu	37	13	84455015	84455015	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:84455015C>G	ENST00000377084.2	-	1	1513	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	210					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGTTATCCTCTAGCAGGATC	0.557																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(628-630)Gag>Cag		SLIT and NTRK-like family, member 1							71.0	69.0	69.0					13																	84455015		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455015C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.628G>C	13.37:g.84455015C>G	ENSP00000366288:p.Glu210Gln						p.E210Q	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1513	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	210					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.628G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629740	0.46944	.	.	ENSG00000178235	ENST00000377084	T	0.52754	0.65	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	N	0.16743	0.435	0.58432	D	0.999999	D	0.67145	0.996	P	0.57776	0.827	T	0.49351	-0.8949	10	0.41790	T	0.15	-13.9705	16.4091	0.83701	0.0:1.0:0.0:0.0	.	210	Q96PX8	SLIK1_HUMAN	Q	210	ENSP00000366288:E210Q	ENSP00000366288:E210Q	E	-	1	0	SLITRK1	83353016	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.651000	0.83577	2.461000	0.83175	0.561000	0.74099	GAG		0.557	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		29	37	0	0	0	1	0	29	37				
ZNF512B	57473	broad.mit.edu	37	20	62616363	62616363	+	Intron	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:62616363G>C	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.R115T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGGATGAAAGAAGAAAAGAA	0.418																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(343-345)aGa>aCa		pre-mRNA processing factor 6							76.0	73.0	74.0					20																	62616363		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62616363G>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-17055C>G	20.37:g.62616363G>C						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.R115T			O94906	PRP6_HUMAN			3	455	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		115					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.344G>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601355	0.87055	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	D;D	0.85773	-1.94;-2.03	4.9	4.9	0.64082	PRP1 splicing factor, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	M	0.92367	3.3	0.80722	D	1	D;D	0.65815	0.995;0.988	D;D	0.71184	0.972;0.932	D	0.95496	0.8573	10	0.87932	D	0	.	18.5125	0.90921	0.0:0.0:1.0:0.0	.	115;115	O94906-2;O94906	.;PRP6_HUMAN	T	115	ENSP00000266079:R115T;ENSP00000446216:R115T	ENSP00000266079:R115T	R	+	2	0	PRPF6	62086807	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.676000	0.98643	2.443000	0.82685	0.585000	0.79938	AGA		0.418	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		10	81	0	0	0	1	0	10	81				
OGDHL	55753	broad.mit.edu	37	10	50948845	50948845	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:50948845C>T	ENST00000374103.4	-	16	2136	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	OGDHL_ENST00000432695.1_Missense_Mutation_p.R475H|OGDHL_ENST00000490844.1_5'Flank|OGDHL_ENST00000419399.1_Missense_Mutation_p.R627H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	684					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACGTCCTGCGGTCAACCTC	0.627																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2050-2052)cGc>cAc		oxoglutarate dehydrogenase-like							136.0	100.0	112.0					10																	50948845		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50948845C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2051G>A	10.37:g.50948845C>T	ENSP00000363216:p.Arg684His					OGDHL_ENST00000432695.1_Missense_Mutation_p.R475H|OGDHL_ENST00000419399.1_Missense_Mutation_p.R627H	p.R684H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			16	2136	-			684					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2051G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163281	0.57476	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91351	-2.83;-2.83;-2.83	5.24	4.34	0.51931	Transketolase-like, pyrimidine-binding domain (2);	0.131393	0.49305	D	0.000154	D	0.88081	0.6341	N	0.24115	0.695	0.41473	D	0.988119	P;P;P	0.48230	0.886;0.753;0.907	P;B;P	0.53954	0.62;0.397;0.738	D	0.88054	0.2789	10	0.72032	D	0.01	.	8.7632	0.34687	0.0:0.7807:0.0:0.2193	.	627;475;684	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	684;627;475	ENSP00000363216:R684H;ENSP00000401356:R627H;ENSP00000390240:R475H	ENSP00000363216:R684H	R	-	2	0	OGDHL	50618851	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.086000	0.57664	1.216000	0.43427	0.555000	0.69702	CGC		0.627	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		14	45	0	0	0	1	0	14	45				
POTEG	404785	broad.mit.edu	37	14	19553698	19553698	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:19553698C>T	ENST00000409832.3	+	1	334	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	94								p.L94L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAAGACACTCAGGAGCAAGA	0.622																																						ENST00000409832.3																			1	Substitution - coding silent(1)	p.L94L(1)	lung(1)	cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(280-282)ctC>ctT		POTE ankyrin domain family, member G							49.0	60.0	57.0					14																	19553698		1537	3266	4803	SO:0001819	synonymous_variant	404785							g.chr14:19553698C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.282C>T	14.37:g.19553698C>T							p.L94L	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	334	+			94					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.282C>T	CCDS32018.1																																																																																				0.622	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		6	437	0	0	0	1	0	6	437				
TSSC2	650368	broad.mit.edu	37	11	3423085	3423085	+	RNA	SNP	C	C	T	rs546063112	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:3423085C>T	ENST00000529482.1	+	0	674									tumor suppressing subtransferable candidate 2 pseudogene																		ACGCACTCTCCGTTCAGGGCC	0.587													N|||	2	0.000399361	0.0	0.0014	5008	,	,		18940	0.001		0.0	False		,,,				2504	0.0					ENST00000529482.1																			0																																																			650368							g.chr11:3423085C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3423085C>T														0	674	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			9	36	0	0	0	1	0	9	36				
MTDH	92140	broad.mit.edu	37	8	98657027	98657027	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:98657027C>T	ENST00000336273.3	+	1	621	c.293C>T	c.(292-294)gCg>gTg	p.A98V	MTDH_ENST00000519934.1_Missense_Mutation_p.A75V	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	98	Interaction with BCCIP.				lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			gtgccggccgcggcccccgAC	0.672																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(292-294)gCg>gTg		metadherin							5.0	6.0	6.0					8																	98657027		1704	3643	5347	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98657027C>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.293C>T	8.37:g.98657027C>T	ENSP00000338235:p.Ala98Val					MTDH_ENST00000519934.1_Missense_Mutation_p.A75V	p.A98V	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		1	621	+	Breast(36;2.56e-06)		98			Interaction with BCCIP.		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.293C>T	CCDS6274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.805|9.805	1.181688|1.181688	0.21787|0.21787	.|.	.|.	ENSG00000147649|ENSG00000147649	ENST00000336273;ENST00000519934|ENST00000522313	T;T|.	0.08282|.	3.11;3.11|.	5.32|5.32	3.53|3.53	0.40419|0.40419	.|.	0.865390|.	0.10173|.	N|.	0.706919|.	T|T	0.19087|0.19087	0.0458|0.0458	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.62326|.	D|.	0.03|.	2.1267|2.1267	9.0119|9.0119	0.36146|0.36146	0.0:0.8283:0.0:0.1717|0.0:0.8283:0.0:0.1717	.|.	98|.	Q86UE4|.	LYRIC_HUMAN|.	V|W	98;75|3	ENSP00000338235:A98V;ENSP00000428168:A75V|.	ENSP00000338235:A98V|.	A|R	+|+	2|1	0|2	MTDH|MTDH	98726203|98726203	0.611000|0.611000	0.26992|0.26992	0.017000|0.017000	0.16124|0.16124	0.014000|0.014000	0.08584|0.08584	1.778000|1.778000	0.38614|0.38614	0.745000|0.745000	0.32763|0.32763	-0.218000|-0.218000	0.12543|0.12543	GCG|CGG		0.672	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			14	10	0	0	0	1	0	14	10				
CTNNA3	29119	broad.mit.edu	37	10	68280454	68280454	+	Silent	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:68280454A>G	ENST00000433211.2	-	11	1626	c.1452T>C	c.(1450-1452)cgT>cgC	p.R484R	CTNNA3_ENST00000373744.4_Silent_p.R484R	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTCCCATGTACGCTTGTACA	0.368																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1450-1452)cgT>cgC		catenin (cadherin-associated protein), alpha 3							191.0	164.0	173.0					10																	68280454		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68280454A>G	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1452T>C	10.37:g.68280454A>G						CTNNA3_ENST00000373744.4_Silent_p.R484R	p.R484R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			11	1626	-			484						Silent	SNP	ENST00000433211.2	37	c.1452T>C	CCDS7269.1																																																																																				0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		43	87	0	0	0	1	0	43	87				
CPNE3	8895	broad.mit.edu	37	8	87567133	87567133	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:87567133A>G	ENST00000521271.1	+	15	1337	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	CPNE3_ENST00000198765.4_Missense_Mutation_p.Y392C	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	392	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATAAAACTCTATGGACCAACT	0.428																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1174-1176)tAt>tGt		copine III							163.0	152.0	156.0					8																	87567133		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87567133A>G	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1175A>G	8.37:g.87567133A>G	ENSP00000430934:p.Tyr392Cys					CPNE3_ENST00000198765.4_Missense_Mutation_p.Y392C	p.Y392C	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			15	1337	+			392			VWFA.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.1175A>G	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355855	0.82243	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	T;T	0.22539	1.95;1.95	5.96	5.96	0.96718	von Willebrand factor, type A (1);Copine (1);	0.055972	0.85682	D	0.000000	T	0.59459	0.2195	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71958	-0.4435	10	0.87932	D	0	-11.2765	16.4338	0.83864	1.0:0.0:0.0:0.0	.	392	O75131	CPNE3_HUMAN	C	392	ENSP00000198765:Y392C;ENSP00000430934:Y392C	ENSP00000198765:Y392C	Y	+	2	0	CPNE3	87636249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.225000	0.72271	2.270000	0.75569	0.533000	0.62120	TAT		0.428	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			39	93	0	0	0	1	0	39	93				
TP53	7157	broad.mit.edu	37	17	7578441	7578441	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:7578441G>C	ENST00000269305.4	-	5	678	c.489C>G	c.(487-489)taC>taG	p.Y163*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y163*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y163*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y163*(7)|p.Y163Y(3)|p.Y163fs*1(2)|p.V157_C176del20(1)|p.I162_Y163delIY(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGACTGCTTGTAGATGGCCA	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		27	Whole gene deletion(8)|Substitution - Nonsense(7)|Deletion - In frame(5)|Deletion - Frameshift(4)|Substitution - coding silent(3)	p.0?(8)|p.Y163*(7)|p.Y163Y(3)|p.Y163fs*1(2)|p.V157_C176del20(1)|p.I162_Y163delIY(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)	stomach(5)|lung(4)|bone(4)|breast(3)|oesophagus(3)|central_nervous_system(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(487-489)taC>taG	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	54.0					17																	7578441		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578441G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.489C>G	17.37:g.7578441G>C	ENSP00000269305:p.Tyr163*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y163*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y163*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y163*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y163*	p.Y163*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	621	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.489C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842469	0.51057	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.59	1.22	0.21188	.	0.062225	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6607	9.9506	0.41636	0.3176:0.0:0.6824:0.0	.	.	.	.	X	163;163;163;163;163;163;152;70;31;70;31;163	.	ENSP00000269305:Y163X	Y	-	3	2	TP53	7519166	0.999000	0.42202	0.997000	0.53966	0.050000	0.14768	0.524000	0.22940	0.377000	0.24735	-0.119000	0.15052	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	39	0	0	0	1	0	41	39				
GPR113	165082	broad.mit.edu	37	2	26534825	26534825	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:26534825C>G	ENST00000311519.1	-	11	1770	c.1771G>C	c.(1771-1773)Gca>Cca	p.A591P	GPR113_ENST00000421160.2_Missense_Mutation_p.A522P|GPR113_ENST00000541401.1_Missense_Mutation_p.A194P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.A392P	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	591					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTGCATGCCAGGGTCTCC	0.612																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1174-1176)Gca>Cca		G protein-coupled receptor 113							41.0	43.0	42.0					2																	26534825		2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534825C>G	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1771G>C	2.37:g.26534825C>G	ENSP00000307831:p.Ala591Pro					GPR113_ENST00000541401.1_Missense_Mutation_p.A194P|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.A591P|GPR113_ENST00000421160.2_Missense_Mutation_p.A522P	p.A392P	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	1756	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		591					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.1174G>C	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772667	0.49680	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	6.11	4.25	0.50352	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.28267	0.0698	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.51537	0.922;0.946;0.869;0.676	P;P;P;P	0.62885	0.908;0.847;0.866;0.776	T	0.00936	-1.1508	9	0.72032	D	0.01	-5.983	8.8523	0.35208	0.1472:0.7719:0.0:0.0809	.	522;392;591;194	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	P	194;392;522;591	ENSP00000445729:A194P;ENSP00000327396:A392P;ENSP00000388537:A522P;ENSP00000307831:A591P	ENSP00000307831:A591P	A	-	1	0	GPR113	26388329	0.649000	0.27322	0.833000	0.33012	0.271000	0.26615	0.635000	0.24629	0.838000	0.34948	0.655000	0.94253	GCA		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		19	50	0	0	0	1	0	19	50				
THAP4	51078	broad.mit.edu	37	2	242573432	242573432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:242573432C>T	ENST00000407315.1	-	2	571	c.140G>A	c.(139-141)tGg>tAg	p.W47*		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	47							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		AGTGGGAGTCCAGTTATCCCT	0.443																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(139-141)tGg>tAg		THAP domain containing 4							89.0	102.0	97.0					2																	242573432		2203	4296	6499	SO:0001587	stop_gained	51078						DNA binding|metal ion binding	g.chr2:242573432C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.140G>A	2.37:g.242573432C>T	ENSP00000385006:p.Trp47*						p.W47*	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	571	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	47					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Nonsense_Mutation	SNP	ENST00000407315.1	37	c.140G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.798060	0.98958	.	.	ENSG00000176946	ENST00000407315	.	.	.	4.93	4.93	0.64822	.	0.164580	0.42821	D	0.000646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.878	16.7001	0.85346	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000385006:W47X	W	-	2	0	THAP4	242222105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.476000	0.60216	2.431000	0.82371	0.655000	0.94253	TGG		0.443	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		42	157	0	0	0	1	0	42	157				
THBS2	7058	broad.mit.edu	37	6	169648545	169648545	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:169648545C>T	ENST00000366787.3	-	4	825	c.576G>A	c.(574-576)gtG>gtA	p.V192V		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	192	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCCTTTGGCCACGTACATCC	0.587																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(574-576)gtG>gtA		thrombospondin 2							109.0	112.0	111.0					6																	169648545		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648545C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.576G>A	6.37:g.169648545C>T							p.V192V	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	825	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	192			Heparin-binding (Potential).|TSP N-terminal.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.576G>A	CCDS34574.1																																																																																				0.587	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		4	162	0	0	0	1	0	4	162				
S1PR4	8698	broad.mit.edu	37	19	3179690	3179690	+	Silent	SNP	G	G	A	rs139982076	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:3179690G>A	ENST00000246115.3	+	1	955	c.900G>A	c.(898-900)tcG>tcA	p.S300S		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	300					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCTCAACTCGGCGGTCAACC	0.662													G|||	6	0.00119808	0.0015	0.0014	5008	,	,		16390	0.003		0.0	False		,,,				2504	0.0				GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(898-900)tcG>tcA		sphingosine-1-phosphate receptor 4		G		6,4400	12.9+/-30.5	0,6,2197	80.0	77.0	78.0		900	-6.6	0.3	19	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	S1PR4	NM_003775.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		300/385	3179690	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179690G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.900G>A	19.37:g.3179690G>A							p.S300S	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	955	+			300					D6W612	Silent	SNP	ENST00000246115.3	37	c.900G>A	CCDS12105.1																																																																																				0.662	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		23	75	0	0	0	1	0	23	75				
CEP192	55125	broad.mit.edu	37	18	13095538	13095538	+	Silent	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:13095538C>G	ENST00000325971.8	+	33	6096	c.4503C>G	c.(4501-4503)gtC>gtG	p.V1501V	CEP192_ENST00000506447.1_Silent_p.V2097V|CEP192_ENST00000430049.2_Silent_p.V1622V|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1501					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGCAACGTCTCTTTGGATG	0.468																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6289-6291)gtC>gtG		centrosomal protein 192kDa							105.0	107.0	106.0					18																	13095538		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13095538C>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4503C>G	18.37:g.13095538C>G						CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Silent_p.V1501V|CEP192_ENST00000430049.2_Silent_p.V1622V	p.V2097V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			35	6371	+			1692					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.6291C>G																																																																																					0.468	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		55	139	0	0	0	1	0	55	139				
CABIN1	23523	broad.mit.edu	37	22	24463031	24463031	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:24463031C>G	ENST00000398319.2	+	16	2516	c.2131C>G	c.(2131-2133)Ctg>Gtg	p.L711V	CABIN1_ENST00000263119.5_Missense_Mutation_p.L711V|CABIN1_ENST00000405822.2_Missense_Mutation_p.L661V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	711					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTTGTGCATCTGCTCCGCCC	0.547																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2131-2133)Ctg>Gtg		calcineurin binding protein 1							86.0	79.0	82.0					22																	24463031		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24463031C>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2131C>G	22.37:g.24463031C>G	ENSP00000381364:p.Leu711Val					CABIN1_ENST00000405822.2_Missense_Mutation_p.L661V|CABIN1_ENST00000263119.5_Missense_Mutation_p.L711V	p.L711V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			16	2516	+			711					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.2131C>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252313	0.59212	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.34667	1.35;1.35;1.35	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.51295	0.1666	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.39683	-0.9602	10	0.37606	T	0.19	.	12.0246	0.53362	0.0:0.9211:0.0:0.0789	.	661;711	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	711;661;711	ENSP00000263119:L711V;ENSP00000384694:L661V;ENSP00000381364:L711V	ENSP00000263119:L711V	L	+	1	2	CABIN1	22793031	0.998000	0.40836	0.977000	0.42913	0.608000	0.37181	3.617000	0.54181	2.717000	0.92951	0.650000	0.86243	CTG		0.547	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		13	107	0	0	0	1	0	13	107				
DLG1	1739	broad.mit.edu	37	3	196865257	196865257	+	Missense_Mutation	SNP	T	T	C	rs200751878		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:196865257T>C	ENST00000419354.1	-	10	1104	c.818A>G	c.(817-819)aAt>aGt	p.N273S	DLG1_ENST00000452595.1_Missense_Mutation_p.N157S|DLG1_ENST00000346964.2_Missense_Mutation_p.N273S|DLG1_ENST00000314062.3_Missense_Mutation_p.N222S|DLG1_ENST00000357674.4_Missense_Mutation_p.N240S|DLG1_ENST00000443183.1_Missense_Mutation_p.N157S|DLG1_ENST00000392382.2_Missense_Mutation_p.N240S|DLG1_ENST00000448528.2_Missense_Mutation_p.N273S|DLG1_ENST00000422288.1_Missense_Mutation_p.N222S|DLG1_ENST00000450955.1_Missense_Mutation_p.N240S			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	273	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TATACAGTCATTGACCCTGAG	0.274																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(817-819)aAt>aGt		discs, large homolog 1 (Drosophila)							73.0	66.0	68.0					3																	196865257		2202	4300	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196865257T>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.818A>G	3.37:g.196865257T>C	ENSP00000407531:p.Asn273Ser					DLG1_ENST00000392382.2_Missense_Mutation_p.N240S|DLG1_ENST00000357674.4_Missense_Mutation_p.N240S|DLG1_ENST00000314062.3_Missense_Mutation_p.N222S|DLG1_ENST00000448528.2_Missense_Mutation_p.N273S|DLG1_ENST00000422288.1_Missense_Mutation_p.N222S|DLG1_ENST00000419354.1_Missense_Mutation_p.N273S|DLG1_ENST00000450955.1_Missense_Mutation_p.N240S|DLG1_ENST00000443183.1_Missense_Mutation_p.N157S|DLG1_ENST00000452595.1_Missense_Mutation_p.N157S	p.N273S	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	10	1007	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	273			PDZ 1.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.818A>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182418	0.78677	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.31	5.31	0.75309	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	M	0.75884	2.315	0.80722	D	1	P;P;P;P;P;D;P	0.56746	0.591;0.8;0.763;0.763;0.877;0.977;0.877	B;B;B;B;P;P;P	0.51193	0.24;0.413;0.406;0.406;0.488;0.662;0.586	T	0.48917	-0.8992	10	0.51188	T	0.08	.	14.7266	0.69349	0.0:0.0:0.0:1.0	.	240;157;157;157;240;273;273	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	S	273;273;240;273;222;273;157;222;273;157;240;240;82	ENSP00000345731:N273S;ENSP00000350303:N240S;ENSP00000321087:N222S;ENSP00000407531:N273S;ENSP00000398939:N157S;ENSP00000413238:N222S;ENSP00000391732:N273S;ENSP00000396658:N157S;ENSP00000376187:N240S;ENSP00000411278:N240S;ENSP00000398702:N82S	ENSP00000321087:N222S	N	-	2	0	DLG1	198349654	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.655000	0.83696	2.127000	0.65507	0.460000	0.39030	AAT		0.274	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		60	55	0	0	0	1	0	60	55				
XIRP2	129446	broad.mit.edu	37	2	168105241	168105241	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:168105241G>A	ENST00000409195.1	+	9	7428	c.7339G>A	c.(7339-7341)Gca>Aca	p.A2447T	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2225T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A2447T|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2272					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTTGAACTGGCAACCTCCCT	0.423																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7339-7341)Gca>Aca		xin actin-binding repeat containing 2							89.0	88.0	88.0					2																	168105241		1847	4110	5957	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105241G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7339G>A	2.37:g.168105241G>A	ENSP00000386840:p.Ala2447Thr					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A2447T|XIRP2_ENST00000409273.1_Missense_Mutation_p.A2225T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	p.A2447T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7428	+			2272					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7339G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196443	0.01594	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02498	4.27;4.27;4.27	5.85	-0.554	0.11811	.	0.787394	0.11993	N	0.509662	T	0.01320	0.0043	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.49153	-0.8969	10	0.19590	T	0.45	-1.2192	7.1074	0.25370	0.4327:0.1709:0.3964:0.0	.	2272;2272;2225	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2447;2447;2225	ENSP00000386840:A2447T;ENSP00000295237:A2447T;ENSP00000387255:A2225T	ENSP00000295237:A2447T	A	+	1	0	XIRP2	167813487	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.776000	0.26704	-0.075000	0.12798	-0.829000	0.03081	GCA		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	92	0	0	0	1	0	17	92				
RTL1	388015	broad.mit.edu	37	14	101350712	101350712	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:101350712G>T	ENST00000534062.1	-	1	472	c.414C>A	c.(412-414)caC>caA	p.H138Q	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	138					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCAGGTCAGTGTGAGCCTCTT	0.537																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(412-414)caC>caA		retrotransposon-like 1							183.0	155.0	163.0					14																	101350712		692	1591	2283	SO:0001583	missense	388015							g.chr14:101350712G>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.414C>A	14.37:g.101350712G>T	ENSP00000435342:p.His138Gln						p.H138Q	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	472	-			138					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.414C>A	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186464	0.38609	.	.	ENSG00000254656	ENST00000534062	T	0.20200	2.09	3.14	3.14	0.36123	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.24455	N	0.994461	B	0.22604	0.072	B	0.18263	0.021	T	0.18272	-1.0342	9	0.25106	T	0.35	.	10.024	0.42059	0.0:0.0:1.0:0.0	.	138	E9PKS8	.	Q	138	ENSP00000435342:H138Q	ENSP00000435342:H138Q	H	-	3	2	RTL1	100420465	0.977000	0.34250	0.961000	0.40146	0.442000	0.32017	1.921000	0.40035	2.064000	0.61679	0.555000	0.69702	CAC		0.537	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		23	9	1	0	1.50039e-11	1	1.71085e-11	23	9				
MYLK4	340156	broad.mit.edu	37	6	2685586	2685586	+	Silent	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:2685586G>T	ENST00000274643.7	-	6	831	c.489C>A	c.(487-489)ctC>ctA	p.L163L	MYLK4_ENST00000268446.5_Silent_p.L163L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ACAGCTGGATGAGGTTCGCGT	0.567																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(487-489)ctC>ctA		myosin light chain kinase family, member 4							265.0	198.0	221.0					6																	2685586		2203	4300	6503	SO:0001819	synonymous_variant	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2685586G>T		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.489C>A	6.37:g.2685586G>T						MYLK4_ENST00000268446.5_Silent_p.L163L	p.L163L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			6	831	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	163			Protein kinase.		A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	c.489C>A	CCDS34330.1																																																																																				0.567	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		24	172	1	0	1.1804e-14	1	1.39653e-14	24	172				
RIMS1	22999	broad.mit.edu	37	6	72975745	72975745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:72975745C>T	ENST00000521978.1	+	22	3391	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R526*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R540*|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R541*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R1066*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.R460*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R1093*|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1131					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTCACCAGAACGAGAAAGGTA	0.388																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(3277-3279)Cga>Tga		regulating synaptic membrane exocytosis 1							44.0	40.0	42.0					6																	72975745		1844	4083	5927	SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72975745C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3391C>T	6.37:g.72975745C>T	ENSP00000428417:p.Arg1131*					RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R1131*|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R540*|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.R460*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R1066*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R541*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R1067*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R526*|RIMS1_ENST00000538414.1_Intron	p.R1093*			Q86UR5	RIMS1_HUMAN			21	3277	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1131					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.3277C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	43	10.184131	0.99354	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000349908;ENST00000264839;ENST00000518273;ENST00000520567;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420	.	.	.	5.8	5.8	0.92144	.	0.000000	0.45361	D	0.000380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-12.9665	20.0558	0.97650	0.0:1.0:0.0:0.0	.	.	.	.	X	1067;1093;1067;1067;1093;1067;1066;1131;540;541;460;526;292	.	ENSP00000264839:R1093X	R	+	1	2	RIMS1	73032466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.663000	0.68038	2.742000	0.94016	0.637000	0.83480	CGA		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			4	6	0	0	0	1	0	4	6				
DMD	1756	broad.mit.edu	37	X	32632460	32632460	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:32632460G>A	ENST00000357033.4	-	12	1648	c.1442C>T	c.(1441-1443)cCt>cTt	p.P481L	DMD_ENST00000378677.2_Missense_Mutation_p.P477L|DMD_ENST00000288447.4_Missense_Mutation_p.P473L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	481					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGATCAGGTCCAAGAGG	0.388																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(1441-1443)cCt>cTt		dystrophin							290.0	233.0	253.0					X																	32632460		2201	4300	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32632460G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1442C>T	X.37:g.32632460G>A	ENSP00000354923:p.Pro481Leu					DMD_ENST00000288447.4_Missense_Mutation_p.P473L|DMD_ENST00000378677.2_Missense_Mutation_p.P477L	p.P481L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			12	1648	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	481					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1442C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437967	0.83885	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.49432	0.78;0.78;0.78	5.62	5.62	0.85841	.	0.000000	0.34853	U	0.003635	T	0.69242	0.3089	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.992;1.0	D;D;D;D	0.91635	0.999;0.998;0.937;0.999	T	0.68409	-0.5416	10	0.40728	T	0.16	.	17.5124	0.87764	0.0:0.0:1.0:0.0	.	473;473;481;477	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	L	473;477;481;481;358;473	ENSP00000367948:P477L;ENSP00000354923:P481L;ENSP00000288447:P473L	ENSP00000288447:P473L	P	-	2	0	DMD	32542381	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.782000	0.85680	2.493000	0.84123	0.594000	0.82650	CCT		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		29	26	0	0	0	1	0	29	26				
CTNNA2	1496	broad.mit.edu	37	2	80620407	80620407	+	Silent	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:80620407A>C	ENST00000402739.4	+	7	1133	c.1128A>C	c.(1126-1128)ctA>ctC	p.L376L	CTNNA2_ENST00000541047.1_Silent_p.L376L|CTNNA2_ENST00000361291.4_Silent_p.L410L|CTNNA2_ENST00000466387.1_Silent_p.L376L|CTNNA2_ENST00000496558.1_Silent_p.L376L|CTNNA2_ENST00000540488.1_Silent_p.L376L|CTNNA2_ENST00000343114.3_Silent_p.L55L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	376					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGAGATCTAAGGAGACAGG	0.333																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1126-1128)ctA>ctC		catenin (cadherin-associated protein), alpha 2							87.0	83.0	84.0					2																	80620407		1819	4084	5903	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620407A>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1128A>C	2.37:g.80620407A>C						CTNNA2_ENST00000540488.1_Silent_p.L376L|CTNNA2_ENST00000496558.1_Silent_p.L376L|CTNNA2_ENST00000402739.4_Silent_p.L376L|CTNNA2_ENST00000361291.4_Silent_p.L410L|CTNNA2_ENST00000343114.3_Silent_p.L55L|CTNNA2_ENST00000541047.1_Silent_p.L376L	p.L376L			P26232	CTNA2_HUMAN			12	1852	+			376					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1128A>C																																																																																					0.333	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		23	127	0	0	0	1	0	23	127				
PIK3C2G	5288	broad.mit.edu	37	12	18443895	18443895	+	Missense_Mutation	SNP	A	A	G	rs367579213		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:18443895A>G	ENST00000266497.5	+	3	906	c.868A>G	c.(868-870)Ata>Gta	p.I290V	PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.I290V|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.I290V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I290V			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	290	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGTTTAATATACATATTTT	0.343																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(868-870)Ata>Gta		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma		A	VAL/ILE	1,3627		0,1,1813	53.0	50.0	51.0		868	-1.3	0.0	12		51	0,8150		0,0,4075	no	missense	PIK3C2G	NM_004570.4	29	0,1,5888	GG,GA,AA		0.0,0.0276,0.0085	benign	290/1446	18443895	1,11777	1814	4075	5889	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18443895A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.868A>G	12.37:g.18443895A>G	ENSP00000266497:p.Ile290Val					PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I290V|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.I290V|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.I290V	p.I290V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			4	984	+		Hepatocellular(102;0.194)	290					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.868A>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.769381	0.00645	2.76E-4	0.0	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.07	-1.33	0.09172	Phosphoinositide 3-kinase, ras-binding (2);	1.026970	0.07728	N	0.944717	T	0.16727	0.0402	N	0.03000	-0.44	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.12156	0.007;0.004;0.007	T	0.26467	-1.0102	10	0.02654	T	1	-4.8645	4.2248	0.10575	0.3969:0.2016:0.4014:0.0	.	289;290;290	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	V	290	ENSP00000443850:I290V;ENSP00000404845:I290V;ENSP00000266497:I290V;ENSP00000445381:I290V	ENSP00000266497:I290V	I	+	1	0	PIK3C2G	18335162	0.078000	0.21339	0.001000	0.08648	0.006000	0.05464	0.226000	0.17776	-0.202000	0.10268	-0.262000	0.10625	ATA		0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		6	18	0	0	0	1	0	6	18				
NNMT	4837	broad.mit.edu	37	11	114182871	114182871	+	Missense_Mutation	SNP	C	C	T	rs72559741		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:114182871C>T	ENST00000535401.1	+	5	731	c.467C>T	c.(466-468)cCg>cTg	p.P156L	NNMT_ENST00000299964.3_Missense_Mutation_p.P156L|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	156					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCCTTACCCCCGGCTGACTGC	0.627																																						ENST00000535401.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(466-468)cCg>cTg		nicotinamide N-methyltransferase	Niacin(DB00627)						68.0	68.0	68.0					11																	114182871		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114182871C>T	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.467C>T	11.37:g.114182871C>T	ENSP00000441434:p.Pro156Leu					NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.P156L|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_5'UTR	p.P156L			P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	5	731	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	156						Missense_Mutation	SNP	ENST00000535401.1	37	c.467C>T	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	C	6.580	0.475310	0.12521	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.09630	2.96;2.96	5.26	-8.2	0.01045	.	0.792766	0.11354	N	0.572621	T	0.06826	0.0174	L	0.45744	1.44	0.18873	N	0.999983	B	0.28378	0.209	B	0.23150	0.044	T	0.18524	-1.0334	10	0.32370	T	0.25	-13.0074	7.5526	0.27806	0.1346:0.4314:0.0:0.4339	.	156	P40261	NNMT_HUMAN	L	156	ENSP00000441434:P156L;ENSP00000299964:P156L	ENSP00000299964:P156L	P	+	2	0	NNMT	113688081	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.273000	0.01164	-1.278000	0.02408	-0.940000	0.02684	CCG		0.627	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		22	34	0	0	0	1	0	22	34				
COL4A5	1287	broad.mit.edu	37	X	107925107	107925107	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:107925107A>T	ENST00000361603.2	+	45	4431	c.4187A>T	c.(4186-4188)cAa>cTa	p.Q1396L	COL4A5_ENST00000328300.6_Missense_Mutation_p.Q1402L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1396	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAAGGACCTCAAGGCTTACCA	0.438									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4204-4206)cAa>cTa		collagen, type IV, alpha 5							69.0	57.0	61.0					X																	107925107		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107925107A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4187A>T	X.37:g.107925107A>T	ENSP00000354505:p.Gln1396Leu					COL4A5_ENST00000361603.2_Missense_Mutation_p.Q1396L	p.Q1402L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			47	4449	+			1396			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4205A>T	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.49|13.49	2.253060|2.253060	0.39797|0.39797	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	.|D;D	.|0.93488	.|-3.23;-3.23	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.200028	.|0.44688	.|D	.|0.000423	.|D	.|0.90549	.|0.7038	L|L	0.58810|0.58810	1.83|1.83	0.38891|0.38891	D|D	0.957118|0.957118	.|P;B	.|0.37176	.|0.586;0.396	.|B;B	.|0.37015	.|0.239;0.073	.|D	.|0.89706	.|0.3908	.|10	.|0.38643	.|T	.|0.18	.|.	9.9662|9.9662	0.41725|0.41725	0.6887:0.3113:0.0:0.0|0.6887:0.3113:0.0:0.0	.|.	.|1399;1396	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	X|L	1|1402;1396;1402	.|ENSP00000331902:Q1402L;ENSP00000354505:Q1396L	.|ENSP00000331902:Q1402L	K|Q	+|+	1|2	0|0	COL4A5|COL4A5	107811763|107811763	0.000000|0.000000	0.05858|0.05858	0.997000|0.997000	0.53966|0.53966	0.794000|0.794000	0.44872|0.44872	0.796000|0.796000	0.26986|0.26986	1.759000|1.759000	0.51996|0.51996	0.412000|0.412000	0.27726|0.27726	AAG|CAA		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			22	12	0	0	0	1	0	22	12				
NINL	22981	broad.mit.edu	37	20	25484697	25484697	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:25484697C>T	ENST00000278886.6	-	7	825	c.752G>A	c.(751-753)gGc>gAc	p.G251D	NINL_ENST00000422516.1_Missense_Mutation_p.G251D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	251	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACTCACTTTGCCGTCTCCGTC	0.522																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(751-753)gGc>gAc		ninein-like							170.0	155.0	160.0					20																	25484697		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25484697C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.752G>A	20.37:g.25484697C>T	ENSP00000278886:p.Gly251Asp					NINL_ENST00000422516.1_Missense_Mutation_p.G251D	p.G251D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			7	825	-			251			EF-hand 4.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.752G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469639	0.84533	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	D;D	0.94232	-3.38;-3.38	5.0	5.0	0.66597	EF-hand-like domain (1);	0.132335	0.49305	D	0.000156	D	0.97417	0.9155	M	0.92784	3.345	0.49687	D	0.999817	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.97548	1.0090	10	0.48119	T	0.1	-35.4421	17.2317	0.86985	0.0:1.0:0.0:0.0	.	251;251	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	D	251	ENSP00000278886:G251D;ENSP00000410431:G251D	ENSP00000278886:G251D	G	-	2	0	NINL	25432697	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.056000	0.64287	2.590000	0.87494	0.655000	0.94253	GGC		0.522	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		4	184	0	0	0	1	0	4	184				
RPLP2	6181	broad.mit.edu	37	11	812565	812565	+	Missense_Mutation	SNP	G	G	T	rs367815234		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:812565G>T	ENST00000321153.4	+	4	597	c.203G>T	c.(202-204)gGt>gTt	p.G68V	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.G68V|SNORA52_ENST00000362915.1_RNA	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	68					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACCTGCTGGTGGGGCTGTA	0.622																																						ENST00000321153.4																			0				lung(1)	1						c.(202-204)gGt>gTt		ribosomal protein, large, P2		G	VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	60.0	49.0	53.0		203	4.8	0.8	11		53	0,8598		0,0,4299	no	missense	RPLP2	NM_001004.3	109	0,1,6501	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	68/116	812565	1,13003	2203	4299	6502	SO:0001583	missense	6181				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr11:812565G>T	M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600		"""L ribosomal proteins"""	10377	protein-coding gene	gene with protein product	"""60S acidic ribosomal protein P2"", ""acidic ribosomal phosphoprotein P2"""	180530		D11S2243E		3323886	Standard	NM_001004		Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.203G>T	11.37:g.812565G>T	ENSP00000322419:p.Gly68Val					RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.G68V	p.G68V	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	597	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	68					Q6FG96	Missense_Mutation	SNP	ENST00000321153.4	37	c.203G>T	CCDS7717.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.224883|3.224883	0.58668|0.58668	2.27E-4|2.27E-4	0.0|0.0	ENSG00000177600|ENSG00000177600	ENST00000321153;ENST00000530797|ENST00000530398	.|.	.|.	.|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87533|0.87533	0.6201|0.6201	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.91572|0.91572	0.5272|0.5272	9|5	0.59425|.	D|.	0.04|.	-25.4498|-25.4498	18.2877|18.2877	0.90119|0.90119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	68|.	P05387|.	RLA2_HUMAN|.	V|L	68|45	.|.	ENSP00000322419:G68V|.	G|V	+|+	2|1	0|0	RPLP2|RPLP2	802565|802565	1.000000|1.000000	0.71417|0.71417	0.840000|0.840000	0.33206|0.33206	0.677000|0.677000	0.39632|0.39632	6.824000|6.824000	0.75288|0.75288	2.394000|2.394000	0.81467|0.81467	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.622	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257115.2	NM_001004		20	47	1	0	8.10497e-08	1	8.84179e-08	20	47				
HHLA3	11147	broad.mit.edu	37	1	70832204	70832204	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:70832204C>T	ENST00000359875.5	+	2	475	c.335C>T	c.(334-336)gCg>gTg	p.A112V	HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000361764.4_3'UTR|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V|HHLA3_ENST00000370940.5_Nonsense_Mutation_p.R80*	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	112										large_intestine(3)|lung(1)	4						gaatttgaggcgaatccatag	0.413																																						ENST00000370940.5																			0				large_intestine(3)|lung(1)	4						c.(238-240)Cga>Tga		HERV-H LTR-associating 3							9.0	10.0	10.0					1																	70832204		2158	4207	6365	SO:0001583	missense	11147						protein binding	g.chr1:70832204C>T	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.335C>T	1.37:g.70832204C>T	ENSP00000352938:p.Ala112Val					HHLA3_ENST00000361764.4_3'UTR|HHLA3_ENST00000359875.5_Missense_Mutation_p.A112V|HHLA3_ENST00000432224.1_Nonsense_Mutation_p.R113*|HHLA3_ENST00000531950.1_Missense_Mutation_p.A112V	p.R80*	NM_001031693.2|NM_001036646.1	NP_001026863.1|NP_001031723.1	Q9XRX5	HHLA3_HUMAN			2	354	+			0					D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Nonsense_Mutation	SNP	ENST00000359875.5	37	c.238C>T	CCDS30753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.009|7.009	0.556444|0.556444	0.13436|0.13436	.|.	.|.	ENSG00000197568|ENSG00000197568	ENST00000359875;ENST00000531950|ENST00000370940;ENST00000432224	.|.	.|.	.|.	0.137|0.137	0.137|0.137	0.14787|0.14787	.|.	.|.	.|.	.|.	.|.	T|.	0.11793|.	0.0287|.	.|.	.|.	.|.	0.42570|0.42570	D|D	0.993172|0.993172	B|.	0.31611|.	0.331|.	B|.	0.17722|.	0.019|.	T|.	0.24119|.	-1.0169|.	6|.	0.87932|0.02654	D|T	0|1	.|.	.|.	.|.	.|.	.|.	112|.	Q9XRX5|.	HHLA3_HUMAN|.	V|X	112|80;113	.|.	ENSP00000352938:A112V|ENSP00000359978:R80X	A|R	+|+	2|1	0|2	HHLA3|HHLA3	70604792|70604792	0.003000|0.003000	0.15002|0.15002	0.016000|0.016000	0.15963|0.15963	0.016000|0.016000	0.09150|0.09150	0.283000|0.283000	0.18846|0.18846	0.291000|0.291000	0.22468|0.22468	0.297000|0.297000	0.19635|0.19635	GCG|CGA		0.413	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		3	10	0	0	0	1	0	3	10				
SLC12A4	6560	broad.mit.edu	37	16	67979053	67979053	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:67979053C>T	ENST00000316341.3	-	23	3243	c.3103G>A	c.(3103-3105)Gac>Aac	p.D1035N	SLC12A4_ENST00000572037.1_Missense_Mutation_p.D987N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D1029N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D1004N|SLC12A4_ENST00000338335.3_3'UTR|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D1035N|SLC12A4_ENST00000422611.2_Missense_Mutation_p.D1037N|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1035					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGCGGGCGTCGTGGGAGCGC	0.587																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(3109-3111)Gac>Aac		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						128.0	117.0	121.0					16																	67979053		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979053C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3103G>A	16.37:g.67979053C>T	ENSP00000318557:p.Asp1035Asn					SLC12A4_ENST00000537830.2_Missense_Mutation_p.D1029N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D1004N|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.D1035N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D987N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D1035N	p.D1037N	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	22	3148	-		Ovarian(137;0.192)	1035					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.3109G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.647187	0.67358	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.94	4.98	0.66077	.	0.048176	0.85682	D	0.000000	T	0.39009	0.1062	L	0.51914	1.62	0.80722	D	1	P;B;B;B;B;B	0.39060	0.657;0.049;0.378;0.082;0.082;0.203	B;B;B;B;B;B	0.26693	0.072;0.009;0.064;0.031;0.046;0.019	T	0.26916	-1.0089	10	0.33940	T	0.23	.	16.5089	0.84279	0.132:0.868:0.0:0.0	.	1037;1029;1004;1029;1035;1035	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	N	1037;1004;1029;1035	ENSP00000395983:D1037N;ENSP00000438334:D1004N;ENSP00000445962:D1029N;ENSP00000318557:D1035N	ENSP00000318557:D1035N	D	-	1	0	SLC12A4	66536554	1.000000	0.71417	0.887000	0.34795	0.994000	0.84299	5.782000	0.68973	1.492000	0.48499	0.557000	0.71058	GAC		0.587	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		25	34	0	0	0	1	0	25	34				
INPP4A	3631	broad.mit.edu	37	2	99155443	99155443	+	Splice_Site	SNP	G	G	A	rs183107767		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:99155443G>A	ENST00000523221.1	+	7	669	c.669G>A	c.(667-669)tcG>tcA	p.S223S	INPP4A_ENST00000409016.4_Splice_Site_p.S223S|INPP4A_ENST00000074304.5_Splice_Site_p.S223S|INPP4A_ENST00000409540.3_Splice_Site_p.S223S|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Splice_Site_p.S223S|INPP4A_ENST00000545415.1_Splice_Site_p.S223S			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	223					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGAAATCGGGTAAACAGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18940	0.001		0.0	False		,,,				2504	0.0					ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.e9+1		inositol polyphosphate-4-phosphatase, type I, 107kDa							84.0	83.0	83.0					2																	99155443		2017	4192	6209	SO:0001630	splice_region_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99155443G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.670+1G>A	2.37:g.99155443G>A						INPP4A_ENST00000409540.3_Splice_Site_p.S223_splice|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Splice_Site_p.S223_splice|INPP4A_ENST00000409016.3_Splice_Site_p.S223_splice|INPP4A_ENST00000545415.1_Splice_Site_p.S223_splice|INPP4A_ENST00000523221.1_Splice_Site_p.S223_splice	p.S223_splice	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			9	1062	+			223					O15326|Q13187|Q53TD8|Q8TC02	Splice_Site	SNP	ENST00000523221.1	37	c.670_splice	CCDS46369.1																																																																																				0.507	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	Silent	5	20	0	0	0	1	0	5	20				
KLHL4	56062	broad.mit.edu	37	X	86888860	86888860	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:86888860C>T	ENST00000373119.4	+	8	1806	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V	KLHL4_ENST00000373114.4_Missense_Mutation_p.A554V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	554						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AATTACGTAGCCAGTATGTCA	0.428																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1660-1662)gCc>gTc		kelch-like family member 4							163.0	129.0	140.0					X																	86888860		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888860C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1661C>T	X.37:g.86888860C>T	ENSP00000362211:p.Ala554Val					KLHL4_ENST00000373114.4_Missense_Mutation_p.A554V	p.A554V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			8	1806	+			554					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1661C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000057	0.93227	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.80304	-1.36;-1.36	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.89649	0.6776	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.998;0.967	D;P	0.75484	0.986;0.854	D	0.91336	0.5093	10	0.87932	D	0	.	15.7654	0.78123	0.0:1.0:0.0:0.0	.	554;554	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	V	554	ENSP00000362211:A554V;ENSP00000362206:A554V	ENSP00000362206:A554V	A	+	2	0	KLHL4	86775516	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.156000	0.77453	2.174000	0.68829	0.506000	0.49869	GCC		0.428	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			19	13	0	0	0	1	0	19	13				
VCAM1	7412	broad.mit.edu	37	1	101194828	101194828	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:101194828A>C	ENST00000294728.2	+	5	1195	c.1094A>C	c.(1093-1095)aAt>aCt	p.N365T	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.N303T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	365	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGGGGACCAATTCCACGCTG	0.507																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1093-1095)aAt>aCt		vascular cell adhesion molecule 1	Carvedilol(DB01136)						120.0	122.0	121.0					1																	101194828		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194828A>C	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1094A>C	1.37:g.101194828A>C	ENSP00000294728:p.Asn365Thr					VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.N303T	p.N365T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1195	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	365			Ig-like C2-type 4.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1094A>C	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.436644	0.25900	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.66099	-0.19;-0.19	5.41	-1.43	0.08884	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.632266	0.17685	N	0.165500	T	0.12774	0.0310	N	0.02391	-0.57	0.09310	N	1	B;B	0.14012	0.009;0.008	B;B	0.14578	0.011;0.011	T	0.31613	-0.9937	10	0.39692	T	0.17	-1.5421	7.9617	0.30074	0.3858:0.4856:0.1286:0.0	.	303;365	E9PDD1;P19320	.;VCAM1_HUMAN	T	303;365	ENSP00000359137:N303T;ENSP00000294728:N365T	ENSP00000294728:N365T	N	+	2	0	VCAM1	100967416	0.000000	0.05858	0.011000	0.14972	0.979000	0.70002	-0.212000	0.09319	-0.400000	0.07656	0.533000	0.62120	AAT		0.507	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		61	117	0	0	0	1	0	61	117				
SIPA1L1	26037	broad.mit.edu	37	14	72152220	72152220	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:72152220G>A	ENST00000555818.1	+	10	3594	c.3246G>A	c.(3244-3246)ccG>ccA	p.P1082P	SIPA1L1_ENST00000358550.2_Silent_p.P1082P|SIPA1L1_ENST00000537413.1_Silent_p.P557P|SIPA1L1_ENST00000381232.3_Silent_p.P1082P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1082					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCAAGTCCCGTCCCAGGTGC	0.512																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(3244-3246)ccG>ccA		signal-induced proliferation-associated 1 like 1							55.0	53.0	54.0					14																	72152220		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72152220G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3246G>A	14.37:g.72152220G>A						SIPA1L1_ENST00000537413.1_Silent_p.P557P|SIPA1L1_ENST00000381232.3_Silent_p.P1082P|SIPA1L1_ENST00000358550.2_Silent_p.P1082P	p.P1082P	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	10	3594	+			1082					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.3246G>A	CCDS9807.1																																																																																				0.512	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		20	97	0	0	0	1	0	20	97				
CCDC40	55036	broad.mit.edu	37	17	78024020	78024020	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:78024020T>A	ENST00000397545.4	+	7	1124	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q	CCDC40_ENST00000374877.3_Missense_Mutation_p.L366Q|CCDC40_ENST00000374876.4_Missense_Mutation_p.L366Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.L366Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	366					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGGAGGAGCTGCAGGCCGCC	0.652																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1096-1098)cTg>cAg		coiled-coil domain containing 40							12.0	16.0	15.0					17																	78024020		2127	4249	6376	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78024020T>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1097T>A	17.37:g.78024020T>A	ENSP00000380679:p.Leu366Gln					CCDC40_ENST00000374876.4_Missense_Mutation_p.L366Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.L366Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.L366Q	p.L366Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		7	1124	+	all_neural(118;0.167)		366					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1097T>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111064	0.56398	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.58652	0.34;1.56;0.32;0.34	4.85	4.85	0.62838	.	.	.	.	.	T	0.76018	0.3929	M	0.79258	2.445	0.46564	D	0.999106	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.963;0.983	T	0.80061	-0.1540	9	0.87932	D	0	-26.2154	14.735	0.69409	0.0:0.0:0.0:1.0	.	366;366;149	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	Q	366	ENSP00000364011:L366Q;ENSP00000269318:L366Q;ENSP00000364010:L366Q;ENSP00000380679:L366Q	ENSP00000269318:L366Q	L	+	2	0	CCDC40	75638615	1.000000	0.71417	0.995000	0.50966	0.036000	0.12997	5.547000	0.67249	1.932000	0.55993	0.533000	0.62120	CTG		0.652	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		3	11	0	0	0	1	0	3	11				
FAT4	79633	broad.mit.edu	37	4	126412023	126412023	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:126412023G>T	ENST00000394329.3	+	17	14059	c.14046G>T	c.(14044-14046)ttG>ttT	p.L4682F	FAT4_ENST00000335110.5_Missense_Mutation_p.L2923F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4682					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAAGGTTTGAGAACCAGCT	0.507																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14044-14046)ttG>ttT		FAT atypical cadherin 4							118.0	123.0	121.0					4																	126412023		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412023G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14046G>T	4.37:g.126412023G>T	ENSP00000377862:p.Leu4682Phe					FAT4_ENST00000335110.5_Missense_Mutation_p.L2923F	p.L4682F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14059	+			4682					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14046G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	2.898	-0.228234	0.06022	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	-0.82;-1.0	4.46	-6.1	0.02138	.	0.000000	0.28748	U	0.014269	T	0.72787	0.3504	L	0.40543	1.245	0.28745	N	0.901771	D;D;D	0.71674	0.998;0.991;0.998	D;P;D	0.69142	0.962;0.881;0.962	T	0.71076	-0.4697	10	0.48119	T	0.1	.	9.6312	0.39780	0.6086:0.0:0.2964:0.095	.	2923;4682;4681	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	F	4682;2923	ENSP00000377862:L4682F;ENSP00000335169:L2923F	ENSP00000335169:L2923F	L	+	3	2	FAT4	126631473	0.297000	0.24408	0.009000	0.14445	0.351000	0.29236	-0.295000	0.08298	-1.440000	0.01960	0.561000	0.74099	TTG		0.507	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		26	32	1	0	2.27525e-19	1	2.75656e-19	26	32				
ADCY2	108	broad.mit.edu	37	5	7520913	7520913	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:7520913C>A	ENST00000338316.4	+	3	560	c.471C>A	c.(469-471)gaC>gaA	p.D157E		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547																																						ENST00000338316.4																			1	Substitution - coding silent(1)	p.D157D(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(469-471)gaC>gaA		adenylate cyclase 2 (brain)							202.0	134.0	157.0					5																	7520913		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520913C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.471C>A	5.37:g.7520913C>A	ENSP00000342952:p.Asp157Glu						p.D157E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			3	560	+			157					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.471C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644850	0.14451	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.75154	-0.91	5.65	-4.65	0.03339	.	0.127832	0.53938	D	0.000056	T	0.54711	0.1875	N	0.25060	0.705	0.80722	D	1	B	0.20261	0.043	B	0.16722	0.016	T	0.13072	-1.0523	10	0.27785	T	0.31	.	13.9048	0.63828	0.0:0.5529:0.0:0.4471	.	157	Q08462	ADCY2_HUMAN	E	157;8	ENSP00000342952:D157E	ENSP00000342952:D157E	D	+	3	2	ADCY2	7573913	0.001000	0.12720	0.909000	0.35828	0.987000	0.75469	-1.976000	0.01497	-0.851000	0.04147	-0.300000	0.09419	GAC		0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		39	61	1	0	1.90571e-15	1	2.27601e-15	39	61				
DPP4	1803	broad.mit.edu	37	2	162851518	162851518	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:162851518G>C	ENST00000360534.3	-	25	2712	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	718					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTGGAGATCTGAGCTGACTGC	0.483																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(2152-2154)Cag>Gag		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						92.0	85.0	88.0					2																	162851518		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162851518G>C	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2152C>G	2.37:g.162851518G>C	ENSP00000353731:p.Gln718Glu					DPP4_ENST00000491591.1_5'UTR	p.Q718E	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			25	2712	-			718					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.2152C>G	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555369	0.45487	.	.	ENSG00000197635	ENST00000360534	T	0.29397	1.57	5.66	5.66	0.87406	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.176699	0.52532	D	0.000080	T	0.24661	0.0598	N	0.20610	0.595	0.80722	D	1	P	0.38582	0.638	B	0.38500	0.275	T	0.02431	-1.1160	10	0.21540	T	0.41	-23.3157	19.7417	0.96234	0.0:0.0:1.0:0.0	.	718	P27487	DPP4_HUMAN	E	718	ENSP00000353731:Q718E	ENSP00000353731:Q718E	Q	-	1	0	DPP4	162559764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.382000	0.79729	2.661000	0.90470	0.655000	0.94253	CAG		0.483	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			11	53	0	0	0	1	0	11	53				
MAP3K6	9064	broad.mit.edu	37	1	27688596	27688596	+	Silent	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:27688596G>C	ENST00000493901.1	-	10	1640	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	MAP3K6_ENST00000357582.2_Silent_p.L467L|MAP3K6_ENST00000374040.3_Silent_p.L459L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	467					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGGCATTGAGCTTATACA	0.567																																						ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1399-1401)ctC>ctG		mitogen-activated protein kinase kinase kinase 6							43.0	42.0	43.0					1																	27688596		2203	4300	6503	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27688596G>C	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1401C>G	1.37:g.27688596G>C						MAP3K6_ENST00000374040.3_Silent_p.L459L|MAP3K6_ENST00000357582.2_Silent_p.L467L	p.L467L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1640	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	467					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.1401C>G	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848357	0.17034	.	.	ENSG00000142733	ENST00000472410	.	.	.	4.93	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0738	0.48019	0.0827:0.1406:0.7767:0.0	.	.	.	.	X	191	.	.	S	-	2	0	MAP3K6	27561183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.475000	0.35409	1.262000	0.44165	0.650000	0.86243	TCA		0.567	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		4	32	0	0	0	1	0	4	32				
RBM46	166863	broad.mit.edu	37	4	155718975	155718975	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:155718975C>T	ENST00000281722.3	+	3	399	c.164C>T	c.(163-165)cCa>cTa	p.P55L	RBM46_ENST00000514866.1_Missense_Mutation_p.P55L|RBM46_ENST00000510397.1_Missense_Mutation_p.P55L	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	55							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGGAAGGTCCACCTCCACCT	0.348																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(163-165)cCa>cTa		RNA binding motif protein 46							93.0	94.0	93.0					4																	155718975		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155718975C>T	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.164C>T	4.37:g.155718975C>T	ENSP00000281722:p.Pro55Leu					RBM46_ENST00000281722.3_Missense_Mutation_p.P55L|RBM46_ENST00000514866.1_Missense_Mutation_p.P55L	p.P55L	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			3	343	+	all_hematologic(180;0.24)	Renal(120;0.0854)	55					B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.164C>T	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690394	0.48097	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	T;T;T;T	0.41758	2.17;0.99;2.32;0.99	5.83	5.83	0.93111	Nucleotide-binding, alpha-beta plait (1);	0.052095	0.85682	D	0.000000	T	0.46639	0.1403	L	0.49778	1.585	0.80722	D	1	P;B;B	0.36392	0.551;0.024;0.047	B;B;B	0.40602	0.334;0.025;0.028	T	0.30592	-0.9973	10	0.40728	T	0.16	-10.1362	20.1374	0.98035	0.0:1.0:0.0:0.0	.	55;55;55	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	L	55	ENSP00000424500:P55L;ENSP00000281722:P55L;ENSP00000422813:P55L;ENSP00000426672:P55L	ENSP00000281722:P55L	P	+	2	0	RBM46	155938425	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.932000	0.70121	2.763000	0.94921	0.563000	0.77884	CCA		0.348	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		24	42	0	0	0	1	0	24	42				
DGKB	1607	broad.mit.edu	37	7	14661095	14661095	+	Missense_Mutation	SNP	C	C	T	rs267601385		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:14661095C>T	ENST00000403951.2	-	15	1614	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	DGKB_ENST00000444700.2_Missense_Mutation_p.E380K|DGKB_ENST00000406247.3_Missense_Mutation_p.E399K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E399K|DGKB_ENST00000399322.3_Missense_Mutation_p.E399K|DGKB_ENST00000407950.1_Missense_Mutation_p.E391K|DGKB_ENST00000402815.1_Missense_Mutation_p.E398K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	399					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCACTCTTTTCCTTTTTCACT	0.308																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1195-1197)Gaa>Aaa		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						144.0	119.0	127.0					7																	14661095		1817	4073	5890	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14661095C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1195G>A	7.37:g.14661095C>T	ENSP00000385780:p.Glu399Lys					DGKB_ENST00000407950.1_Missense_Mutation_p.E391K|DGKB_ENST00000406247.3_Missense_Mutation_p.E399K|DGKB_ENST00000402815.1_Missense_Mutation_p.E398K|DGKB_ENST00000399322.3_Missense_Mutation_p.E399K|DGKB_ENST00000444700.2_Missense_Mutation_p.E380K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E399K	p.E399K			Q9Y6T7	DGKB_HUMAN			15	1614	-			399					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1195G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933735	0.34096	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79033	-1.13;-1.13;-1.13;-1.13;-1.13;-1.17;-1.23	4.86	4.86	0.63082	.	0.485194	0.21700	N	0.070438	T	0.71837	0.3387	L	0.50333	1.59	0.51012	D	0.999904	B;B;B;B	0.24882	0.113;0.004;0.004;0.014	B;B;B;B	0.19391	0.025;0.004;0.004;0.003	T	0.67703	-0.5602	10	0.10636	T	0.68	.	18.3367	0.90290	0.0:1.0:0.0:0.0	.	398;380;399;399	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	K	399;399;399;398;391;380;399	ENSP00000385780:E399K;ENSP00000382260:E399K;ENSP00000258767:E399K;ENSP00000384909:E398K;ENSP00000385031:E391K;ENSP00000388451:E380K;ENSP00000386066:E399K	ENSP00000258767:E399K	E	-	1	0	DGKB	14627620	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	6.628000	0.74262	2.400000	0.81607	0.313000	0.20887	GAA		0.308	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		25	17	0	0	0	1	0	25	17				
KIT	3815	broad.mit.edu	37	4	55599289	55599289	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:55599289C>A	ENST00000288135.5	+	17	2512	c.2415C>A	c.(2413-2415)atC>atA	p.I805I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I805I(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGGTCGGATCACAAAGATTT	0.383		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		1	Substitution - coding silent(1)	p.I805I(1)	genital_tract(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2413-2415)atC>atA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						128.0	128.0	128.0					4																	55599289		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55599289C>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2415C>A	4.37:g.55599289C>A							p.I805I	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	17	2512	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		805			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.2415C>A	CCDS3496.1																																																																																				0.383	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			49	109	1	0	2.9001e-28	1	3.60013e-28	49	109				
CLUH	23277	broad.mit.edu	37	17	2595752	2595752	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:2595752C>T	ENST00000570628.2	-	22	3451	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R	CLUH_ENST00000435359.1_Missense_Mutation_p.G1116R|CLUH_ENST00000538975.1_Missense_Mutation_p.G1116R			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1116					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TCCATCACCCCGTGCAGCACC	0.706																																						ENST00000570628.1																			0											c.(3346-3348)Ggg>Agg		clustered mitochondria (cluA/CLU1) homolog							22.0	25.0	24.0					17																	2595752		1999	4166	6165	SO:0001583	missense	23277							g.chr17:2595752C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3346G>A	17.37:g.2595752C>T	ENSP00000458986:p.Gly1116Arg					CLUH_ENST00000435359.1_Missense_Mutation_p.G1116R|CLUH_ENST00000538975.1_Missense_Mutation_p.G1116R|CLUH_ENST00000575014.1_Missense_Mutation_p.G1049R	p.G1116R							22	3451	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.3346G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044262	0.93685	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.93076	-3.16;-3.16	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	D	0.93212	0.6601	10	0.22109	T	0.4	.	16.9919	0.86356	0.0:1.0:0.0:0.0	.	1116;1117	O75153;C9J6D7	K0664_HUMAN;.	R	1116;1117;1116	ENSP00000388872:G1116R;ENSP00000439628:G1116R	ENSP00000320468:G1117R	G	-	1	0	KIAA0664	2542502	1.000000	0.71417	0.657000	0.29651	0.945000	0.59286	7.651000	0.83577	2.494000	0.84150	0.561000	0.74099	GGG		0.706	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		9	37	0	0	0	1	0	9	37				
UBE3D	90025	broad.mit.edu	37	6	83748144	83748144	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:83748144C>A	ENST00000369747.3	-	5	780	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	220					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CCTGATGACACGGTCTCTCCC	0.333																																						ENST00000369747.3																			0											c.(658-660)Gtg>Ttg		ubiquitin protein ligase E3D							153.0	154.0	154.0					6																	83748144		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83748144C>A	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.658G>T	6.37:g.83748144C>A	ENSP00000358762:p.Val220Leu						p.V220L	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN			5	780	-			220					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.658G>T	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000731	0.35320	.	.	ENSG00000118420	ENST00000369747	T	0.29397	1.57	5.58	-6.92	0.01644	.	0.768760	0.12909	N	0.429136	T	0.08935	0.0221	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.22414	0.002;0.069	B;B	0.18871	0.002;0.023	T	0.32134	-0.9918	10	0.15066	T	0.55	-17.2969	18.7052	0.91635	0.0:0.6487:0.0:0.3513	.	220;220	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	L	220	ENSP00000358762:V220L	ENSP00000358762:V220L	V	-	1	0	UBE2CBP	83804863	0.000000	0.05858	0.092000	0.20876	0.991000	0.79684	-1.502000	0.02279	-1.228000	0.02568	-0.137000	0.14449	GTG		0.333	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		34	73	1	0	4.65686e-17	1	5.58824e-17	34	73				
CDH4	1002	broad.mit.edu	37	20	60511974	60511974	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:60511974C>A	ENST00000360469.5	+	16	2812	c.2724C>A	c.(2722-2724)gaC>gaA	p.D908E	CDH4_ENST00000543233.1_Missense_Mutation_p.D834E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	908					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCTGGCGGACATGTATGGAG	0.607																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2722-2724)gaC>gaA		cadherin 4, type 1, R-cadherin (retinal)							80.0	57.0	65.0					20																	60511974		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511974C>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2724C>A	20.37:g.60511974C>A	ENSP00000353656:p.Asp908Glu					CDH4_ENST00000543233.1_Missense_Mutation_p.D834E	p.D908E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2812	+			908					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2724C>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476647	0.84640	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.76060	-0.99;-0.99	4.49	3.55	0.40652	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.79021	0.4376	L	0.39692	1.235	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	T	0.76520	-0.2929	9	.	.	.	.	12.5341	0.56133	0.0:0.9177:0.0:0.0823	.	908	P55283	CADH4_HUMAN	E	908;816;834	ENSP00000353656:D908E;ENSP00000443301:D834E	.	D	+	3	2	CDH4	59945369	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.914000	0.56401	0.895000	0.36342	0.467000	0.42956	GAC		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		14	29	1	0	9.31168e-06	1	9.85943e-06	14	29				
NTRK3	4916	broad.mit.edu	37	15	88679771	88679771	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:88679771C>A	ENST00000360948.2	-	7	853	c.692G>T	c.(691-693)tGc>tTc	p.C231F	NTRK3_ENST00000557856.1_Missense_Mutation_p.C231F|NTRK3_ENST00000394480.2_Missense_Mutation_p.C231F|NTRK3_ENST00000558676.1_Missense_Mutation_p.C231F|NTRK3_ENST00000317501.3_Missense_Mutation_p.C231F|NTRK3_ENST00000540489.2_Missense_Mutation_p.C231F|NTRK3_ENST00000355254.2_Missense_Mutation_p.C231F|NTRK3_ENST00000357724.2_Missense_Mutation_p.C231F|NTRK3_ENST00000542733.2_Missense_Mutation_p.C133F	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	231	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGCCATTGCAAGTGATAAC	0.552			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(691-693)tGc>tTc		neurotrophic tyrosine kinase, receptor, type 3							171.0	103.0	126.0					15																	88679771		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679771C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.692G>T	15.37:g.88679771C>A	ENSP00000354207:p.Cys231Phe	TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Missense_Mutation_p.C231F|NTRK3_ENST00000360948.2_Missense_Mutation_p.C231F|NTRK3_ENST00000357724.2_Missense_Mutation_p.C231F|NTRK3_ENST00000317501.3_Missense_Mutation_p.C231F|NTRK3_ENST00000558676.1_Missense_Mutation_p.C231F|NTRK3_ENST00000355254.2_Missense_Mutation_p.C231F|NTRK3_ENST00000557856.1_Missense_Mutation_p.C231F|NTRK3_ENST00000542733.2_Missense_Mutation_p.C133F	p.C231F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		8	1013	-			231			Ig-like C2-type 1.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.692G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905343	0.92035	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.91354	3.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.992;0.999	D	0.95031	0.8169	10	0.87932	D	0	.	18.6884	0.91574	0.0:1.0:0.0:0.0	.	133;231;231;231;231;231	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	F	231;231;231;231;133;231;231	ENSP00000377990:C231F;ENSP00000354207:C231F;ENSP00000350356:C231F;ENSP00000347397:C231F;ENSP00000437773:C133F;ENSP00000444673:C231F;ENSP00000318328:C231F	ENSP00000318328:C231F	C	-	2	0	NTRK3	86480775	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.359000	0.79477	2.657000	0.90304	0.655000	0.94253	TGC		0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				13	19	1	0	2.27111e-07	1	2.45631e-07	13	19				
ISPD	729920	broad.mit.edu	37	7	16317850	16317850	+	Splice_Site	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:16317850C>G	ENST00000407010.2	-	6	836	c.837G>C	c.(835-837)gaG>gaC	p.E279D	ISPD_ENST00000479493.1_5'UTR|ISPD_ENST00000399310.3_Splice_Site_p.E229D	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	279					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GGGAAATTCTCTCTGAAATTA	0.318										Multiple Myeloma(15;0.18)																												ENST00000407010.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.e6-1		isoprenoid synthase domain containing							35.0	35.0	35.0					7																	16317850		1782	4053	5835	SO:0001630	splice_region_variant	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16317850C>G	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.836-1G>C	7.37:g.16317850C>G		Multiple Myeloma(15;0.18)				ISPD_ENST00000479493.1_5'UTR|ISPD_ENST00000399310.3_Splice_Site_p.E229_splice	p.E279_splice	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN			6	836	-			279					A8MU35|H9KVB2	Splice_Site	SNP	ENST00000407010.2	37	c.835_splice		.	.	.	.	.	.	.	.	.	.	C	6.099	0.386550	0.11524	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.87334	-2.17;-2.24	4.31	0.669	0.17918	.	.	.	.	.	T	0.73133	0.3548	N	0.20685	0.6	0.80722	D	1	B	0.27351	0.176	B	0.28916	0.096	T	0.60250	-0.7300	9	0.33141	T	0.24	.	3.2265	0.06734	0.0:0.2837:0.2234:0.4929	.	279	A4D126	ISPD_HUMAN	D	279;229	ENSP00000385478:E279D;ENSP00000382249:E229D	ENSP00000382249:E229D	E	-	3	2	ISPD	16284375	0.865000	0.29922	0.996000	0.52242	0.106000	0.19336	0.129000	0.15830	0.272000	0.22027	0.467000	0.42956	GAG		0.318	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426	Missense_Mutation	12	26	0	0	0	1	0	12	26				
CCDC129	223075	broad.mit.edu	37	7	31692300	31692300	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:31692300G>C	ENST00000407970.3	+	14	3030	c.2992G>C	c.(2992-2994)Ggg>Cgg	p.G998R	CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.G906R|CCDC129_ENST00000319386.3_Missense_Mutation_p.G850R	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	998										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGTTCAGGTGGGACCCAGTT	0.552																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2548-2550)Ggg>Cgg		coiled-coil domain containing 129							79.0	69.0	72.0					7																	31692300		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692300G>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2992G>C	7.37:g.31692300G>C	ENSP00000384416:p.Gly998Arg					CCDC129_ENST00000409210.1_Missense_Mutation_p.G906R|CCDC129_ENST00000407970.3_Missense_Mutation_p.G998R|CCDC129_ENST00000451887.2_Intron	p.G850R			Q6ZRS4	CC129_HUMAN			14	3541	+			998					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2548G>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	6.187	0.402688	0.11696	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.22;2.5;2.23	4.37	-0.29	0.12847	.	1.185900	0.06461	N	0.729446	T	0.12689	0.0308	L	0.36672	1.1	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.005	B;B;B	0.10450	0.005;0.005;0.005	T	0.20240	-1.0281	10	0.42905	T	0.14	1.1009	3.5004	0.07670	0.396:0.1992:0.4048:0.0	.	1008;998;850	F5H2J8;Q6ZRS4;Q6ZRS4-2	.;CC129_HUMAN;.	R	850;998;1008;906	ENSP00000313062:G850R;ENSP00000384416:G998R;ENSP00000387214:G906R	ENSP00000313062:G850R	G	+	1	0	CCDC129	31658825	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-0.124000	0.10595	0.108000	0.17862	0.655000	0.94253	GGG		0.552	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		24	57	0	0	0	1	0	24	57				
SCTR	6344	broad.mit.edu	37	2	120221754	120221754	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:120221754A>C	ENST00000019103.5	-	6	848	c.581T>G	c.(580-582)aTc>aGc	p.I194S		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	194					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGCGTCCTTGATGAAGTTGGA	0.577																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(580-582)aTc>aGc		secretin receptor	Secretin(DB00021)						195.0	162.0	173.0					2																	120221754		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120221754A>C		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.581T>G	2.37:g.120221754A>C	ENSP00000019103:p.Ile194Ser						p.I194S	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			6	848	-			194					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.581T>G	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207711	0.79240	.	.	ENSG00000080293	ENST00000019103	T	0.38401	1.14	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000041	T	0.65491	0.2696	M	0.91140	3.18	0.58432	D	0.999998	D	0.56521	0.976	P	0.62649	0.905	T	0.74572	-0.3621	10	0.87932	D	0	.	14.4748	0.67539	1.0:0.0:0.0:0.0	.	194	P47872	SCTR_HUMAN	S	194	ENSP00000019103:I194S	ENSP00000019103:I194S	I	-	2	0	SCTR	119938224	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	8.801000	0.91905	2.200000	0.70718	0.533000	0.62120	ATC		0.577	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			23	51	0	0	0	1	0	23	51				
C1orf94	84970	broad.mit.edu	37	1	34666508	34666508	+	Missense_Mutation	SNP	C	C	A	rs115878225		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:34666508C>A	ENST00000488417.1	+	3	1265	c.1145C>A	c.(1144-1146)cCg>cAg	p.P382Q	C1orf94_ENST00000373374.3_Missense_Mutation_p.P192Q	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	382										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTGACCCTGCCGCCCAAGAAA	0.592																																						ENST00000488417.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1144-1146)cCg>cAg		chromosome 1 open reading frame 94							59.0	58.0	58.0					1																	34666508		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34666508C>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1145C>A	1.37:g.34666508C>A	ENSP00000435634:p.Pro382Gln					C1orf94_ENST00000373374.3_Missense_Mutation_p.P192Q	p.P382Q	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1265	+		Myeloproliferative disorder(586;0.0393)	192					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.1145C>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113857	0.37339	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.33216	1.42;1.42	5.73	5.73	0.89815	.	0.115043	0.39407	N	0.001364	T	0.50069	0.1594	L	0.58101	1.795	0.19945	N	0.999942	D	0.67145	0.996	D	0.63877	0.919	T	0.45264	-0.9273	10	0.72032	D	0.01	-6.0932	15.3908	0.74741	0.0:1.0:0.0:0.0	.	382	Q6P1W5	CA094_HUMAN	Q	192;382	ENSP00000362472:P192Q;ENSP00000435634:P382Q	ENSP00000362472:P192Q	P	+	2	0	C1orf94	34439095	0.014000	0.17966	0.014000	0.15608	0.008000	0.06430	0.420000	0.21263	2.706000	0.92434	0.655000	0.94253	CCG		0.592	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		17	34	1	0	5.03518e-11	1	5.71561e-11	17	34				
ERGIC2	51290	broad.mit.edu	37	12	29523088	29523088	+	Silent	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:29523088T>A	ENST00000360150.4	-	3	249	c.174A>T	c.(172-174)acA>acT	p.T58T		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	58					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					ACTTCATCCATGTATCTTGAT	0.289																																						ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(172-174)acA>acT		ERGIC and golgi 2	Arsenic trioxide(DB01169)						60.0	56.0	57.0					12																	29523088		1791	4039	5830	SO:0001819	synonymous_variant	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29523088T>A	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.174A>T	12.37:g.29523088T>A							p.T58T	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			3	249	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		58					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Silent	SNP	ENST00000360150.4	37	c.174A>T	CCDS41765.1																																																																																				0.289	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		15	62	0	0	0	1	0	15	62				
TAF6	6878	broad.mit.edu	37	7	99711563	99711563	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:99711563G>C	ENST00000344095.4	-	3	696	c.171C>G	c.(169-171)ttC>ttG	p.F57L	TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000472509.1_Missense_Mutation_p.F114L|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.F57L|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000453269.2_Missense_Mutation_p.F57L|TAF6_ENST00000437822.2_Missense_Mutation_p.F94L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	57					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGTGCATGAACTTCAAGG	0.562																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(169-171)ttC>ttG		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							111.0	98.0	102.0					7																	99711563		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711563G>C		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.171C>G	7.37:g.99711563G>C	ENSP00000344537:p.Phe57Leu					TAF6_ENST00000453269.2_Missense_Mutation_p.F57L|TAF6_ENST00000452041.1_Missense_Mutation_p.F57L|TAF6_ENST00000437822.2_Missense_Mutation_p.F94L|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000472509.1_Missense_Mutation_p.F114L	p.F57L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			3	696	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		57					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.171C>G	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168345	0.78339	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000437822;ENST00000493322;ENST00000440225;ENST00000452438;ENST00000523306;ENST00000449571;ENST00000520135;ENST00000451699;ENST00000417349	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.63	3.48	0.39840	Histone-fold (2);TATA box binding protein associated factor (TAF) (2);	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.75777	2.31	0.80722	D	1	P;P;P;P;P	0.50617	0.922;0.905;0.922;0.937;0.867	P;P;P;D;D	0.63877	0.841;0.671;0.841;0.919;0.914	T	0.69548	-0.5116	10	0.51188	T	0.08	-26.371	11.2401	0.48964	0.1777:0.0:0.8223:0.0	.	94;57;47;57;57	B4DT11;P49848-2;A4D299;P49848;C9JTY6	.;.;.;TAF6_HUMAN;.	L	57;114;57;57;94;57;57;57;47;57;47;57;57	ENSP00000389575:F57L;ENSP00000419760:F114L;ENSP00000416396:F57L;ENSP00000344537:F57L;ENSP00000399982:F94L;ENSP00000419555:F57L;ENSP00000410012:F57L;ENSP00000412346:F57L;ENSP00000428639:F47L;ENSP00000390073:F57L;ENSP00000428071:F47L;ENSP00000406315:F57L;ENSP00000390220:F57L	ENSP00000344537:F57L	F	-	3	2	TAF6	99549499	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.561000	0.45905	1.367000	0.46095	0.561000	0.74099	TTC		0.562	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		12	143	0	0	0	1	0	12	143				
GRIK2	2898	broad.mit.edu	37	6	102247607	102247607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:102247607C>T	ENST00000421544.1	+	7	1526	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	GRIK2_ENST00000369138.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.Q297*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	346					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CAGTTCCTTGCAGTGTAATCG	0.458																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1036-1038)Cag>Tag		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						194.0	171.0	179.0					6																	102247607		2203	4300	6503	SO:0001587	stop_gained	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102247607C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1036C>T	6.37:g.102247607C>T	ENSP00000397026:p.Gln346*					GRIK2_ENST00000369134.4_Nonsense_Mutation_p.Q297*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.Q346*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.Q346*	p.Q346*	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	7	1526	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	346					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	ENST00000421544.1	37	c.1036C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	43	10.350414	0.99389	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	.	.	.	5.3	5.3	0.74995	.	0.136092	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.9405	0.92604	0.0:1.0:0.0:0.0	.	.	.	.	X	346;346;346;346;346;346;297;308;59	.	ENSP00000313276:Q346X	Q	+	1	0	GRIK2	102354300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.466000	0.80914	2.464000	0.83262	0.655000	0.94253	CAG		0.458	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			42	101	0	0	0	1	0	42	101				
GRIN3A	116443	broad.mit.edu	37	9	104432438	104432438	+	Silent	SNP	G	G	A	rs267602060		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:104432438G>A	ENST00000361820.3	-	3	2856	c.2256C>T	c.(2254-2256)ttC>ttT	p.F752F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	752					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAAACATACAGAAAATGGCCC	0.443																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2254-2256)ttC>ttT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						88.0	84.0	85.0					9																	104432438		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432438G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2256C>T	9.37:g.104432438G>A							p.F752F	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			3	2856	-		Acute lymphoblastic leukemia(62;0.0568)	752					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.2256C>T	CCDS6758.1																																																																																				0.443	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			42	78	0	0	0	1	0	42	78				
OR3A3	8392	broad.mit.edu	37	17	3324328	3324328	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:3324328C>A	ENST00000291231.1	+	1	467	c.467C>A	c.(466-468)gCg>gAg	p.A156E		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	156					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TTGGTGGCTGCGTCCTGGGCT	0.592																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(466-468)gCg>gAg		olfactory receptor, family 3, subfamily A, member 3							160.0	149.0	153.0					17																	3324328		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324328C>A	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.467C>A	17.37:g.3324328C>A	ENSP00000291231:p.Ala156Glu						p.A156E	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	467	+			156					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.467C>A	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	c	1.053	-0.675251	0.03378	.	.	ENSG00000159961	ENST00000291231	T	0.40225	1.04	2.52	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45617	0.1351	M	0.79926	2.475	0.09310	N	1	B	0.25312	0.123	B	0.32762	0.152	T	0.44922	-0.9296	9	0.39692	T	0.17	.	10.7976	0.46470	0.0:0.6208:0.0:0.3792	.	156	P47888	OR3A3_HUMAN	E	156	ENSP00000291231:A156E	ENSP00000291231:A156E	A	+	2	0	OR3A3	3271078	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-3.433000	0.00472	-1.299000	0.02344	-3.483000	0.00034	GCG		0.592	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			58	91	1	0	8.3131e-28	1	1.02691e-27	58	91				
SYNDIG1	79953	broad.mit.edu	37	20	24523956	24523956	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:24523956G>T	ENST00000376862.3	+	2	856	c.223G>T	c.(223-225)Gac>Tac	p.D75Y		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	75					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCAGCTGCTGGACCCCAACAC	0.672																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(223-225)Gac>Tac		synapse differentiation inducing 1							41.0	40.0	40.0					20																	24523956		2203	4299	6502	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523956G>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.223G>T	20.37:g.24523956G>T	ENSP00000366058:p.Asp75Tyr						p.D75Y	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	856	+			75					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.223G>T	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652753	0.67472	.	.	ENSG00000101463	ENST00000376862	D	0.94138	-3.36	5.95	5.0	0.66597	.	0.105513	0.64402	D	0.000005	D	0.95567	0.8559	M	0.73962	2.25	0.41551	D	0.988575	D	0.89917	1.0	D	0.63488	0.915	D	0.95745	0.8787	10	0.87932	D	0	-46.9746	11.0237	0.47732	0.0853:0.0:0.9147:0.0	.	75	Q9H7V2	SYNG1_HUMAN	Y	75	ENSP00000366058:D75Y	ENSP00000366058:D75Y	D	+	1	0	SYNDIG1	24471956	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.190000	0.50973	1.519000	0.48950	0.655000	0.94253	GAC		0.672	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		27	41	1	0	2.44723e-14	1	2.86838e-14	27	41				
THUMPD1	55623	broad.mit.edu	37	16	20748523	20748523	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr16:20748523G>A	ENST00000381337.2	-	4	1085	c.741C>T	c.(739-741)gtC>gtT	p.V247V	THUMPD1_ENST00000396083.2_Silent_p.V247V|THUMPD1_ENST00000431224.2_Silent_p.V333V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	247	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TCAGGCAACAGACAGCTTTGA	0.413																																						ENST00000381337.2																			0				NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(739-741)gtC>gtT		THUMP domain containing 1							111.0	101.0	105.0					16																	20748523		2201	4300	6501	SO:0001819	synonymous_variant	55623							g.chr16:20748523G>A	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.741C>T	16.37:g.20748523G>A						THUMPD1_ENST00000396083.2_Silent_p.V247V|THUMPD1_ENST00000431224.2_Silent_p.V333V	p.V247V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN			4	1085	-			247			THUMP.		Q9BWC3	Silent	SNP	ENST00000381337.2	37	c.741C>T	CCDS10588.1																																																																																				0.413	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736		46	94	0	0	0	1	0	46	94				
LIG3	3980	broad.mit.edu	37	17	33321376	33321376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:33321376C>T	ENST00000378526.4	+	9	1670	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	LIG3_ENST00000262327.5_Nonsense_Mutation_p.R513*	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	513					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGATGGAGAGCGAGTCCAGGT	0.527								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1537-1539)Cga>Tga	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						212.0	161.0	178.0					17																	33321376		2203	4300	6503	SO:0001587	stop_gained	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33321376C>T		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1537C>T	17.37:g.33321376C>T	ENSP00000367787:p.Arg513*					LIG3_ENST00000262327.5_Nonsense_Mutation_p.R513*	p.R513*	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			9	1670	+		Ovarian(249;0.17)	513					Q16714|Q6NVK3	Nonsense_Mutation	SNP	ENST00000378526.4	37	c.1537C>T	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	C	39	7.633572	0.98403	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2654	13.3724	0.60721	0.257:0.743:0.0:0.0	.	.	.	.	X	513	.	ENSP00000262327:R513X	R	+	1	2	LIG3	30345489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.810000	0.47979	2.941000	0.99782	0.655000	0.94253	CGA		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		15	64	0	0	0	1	0	15	64				
ALMS1P	200420	broad.mit.edu	37	2	73900042	73900042	+	RNA	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:73900042G>C	ENST00000450720.1	+	0	602					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												CAGTAACCAAGACCAAGCCGT	0.562																																						ENST00000450720.1																			0																				53.0	59.0	57.0					2																	73900042		692	1591	2283			200420							g.chr2:73900042G>C	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73900042G>C								NR_003683.2						0	602	+									RNA	SNP	ENST00000450720.1	37																																																																																						0.562	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	NR_003683		6	13	0	0	0	1	0	6	13				
POGZ	23126	broad.mit.edu	37	1	151380618	151380618	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:151380618T>C	ENST00000271715.2	-	15	2647	c.2333A>G	c.(2332-2334)tAt>tGt	p.Y778C	POGZ_ENST00000361398.3_Missense_Mutation_p.Y725C|POGZ_ENST00000368863.2_Missense_Mutation_p.Y683C|POGZ_ENST00000540984.1_Missense_Mutation_p.Y140C|POGZ_ENST00000392723.1_Missense_Mutation_p.Y725C|POGZ_ENST00000531094.1_Missense_Mutation_p.Y716C|POGZ_ENST00000409503.1_Missense_Mutation_p.Y769C|POGZ_ENST00000491586.1_Missense_Mutation_p.Y734C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	778					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGGTGCTATAGCGACACAG	0.458																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(2332-2334)tAt>tGt		pogo transposable element with ZNF domain							145.0	128.0	134.0					1																	151380618		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151380618T>C	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2333A>G	1.37:g.151380618T>C	ENSP00000271715:p.Tyr778Cys					POGZ_ENST00000392723.1_Missense_Mutation_p.Y725C|POGZ_ENST00000368863.2_Missense_Mutation_p.Y683C|POGZ_ENST00000361398.3_Missense_Mutation_p.Y725C|POGZ_ENST00000540984.1_Missense_Mutation_p.Y140C|POGZ_ENST00000531094.1_Missense_Mutation_p.Y716C|POGZ_ENST00000491586.1_Missense_Mutation_p.Y734C|POGZ_ENST00000409503.1_Missense_Mutation_p.Y769C	p.Y778C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		15	2647	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		778					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.2333A>G	CCDS997.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.218027	0.79352	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.60171	4.45;4.49;4.45;4.34;4.47;4.42;0.44;3.9;0.21	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000013	T	0.65428	0.2690	L	0.56199	1.76	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.996;0.995;0.998;0.997;0.995;0.996	T	0.70513	-0.4851	10	0.87932	D	0	-14.3174	14.44	0.67309	0.0:0.0:0.0:1.0	.	716;769;683;734;725;778	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	C	725;778;725;683;769;716;140;734;178	ENSP00000376484:Y725C;ENSP00000271715:Y778C;ENSP00000354467:Y725C;ENSP00000357856:Y683C;ENSP00000386836:Y769C;ENSP00000431259:Y716C;ENSP00000443547:Y140C;ENSP00000418408:Y734C;ENSP00000432295:Y178C	ENSP00000271715:Y778C	Y	-	2	0	POGZ	149647242	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.599000	0.82757	2.096000	0.63516	0.533000	0.62120	TAT		0.458	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		56	51	0	0	0	1	0	56	51				
CD1E	913	broad.mit.edu	37	1	158326619	158326619	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:158326619C>T	ENST00000368167.3	+	6	1339	c.1100C>T	c.(1099-1101)gCa>gTa	p.A367V	CD1E_ENST00000444681.2_Missense_Mutation_p.A268V|CD1E_ENST00000368163.3_Missense_Mutation_p.A300V|CD1E_ENST00000368165.3_Missense_Mutation_p.A277V|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368166.3_Missense_Mutation_p.A166V|CD1E_ENST00000452291.2_Missense_Mutation_p.A178V|CD1E_ENST00000368155.3_Missense_Mutation_p.A210V|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368160.3_Missense_Mutation_p.A355V|CD1E_ENST00000368154.1_Missense_Mutation_p.A123V|CD1E_ENST00000368157.1_Missense_Mutation_p.A111V|CD1E_ENST00000368156.1_Missense_Mutation_p.A265V	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	367					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCTGCTTGGCACAAGTATCG	0.428																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(802-804)gCa>gTa		CD1e molecule							118.0	113.0	115.0					1																	158326619		1914	4135	6049	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326619C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1100C>T	1.37:g.158326619C>T	ENSP00000357149:p.Ala367Val					CD1E_ENST00000368165.3_Missense_Mutation_p.A277V|CD1E_ENST00000368167.3_Missense_Mutation_p.A367V|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368166.3_Missense_Mutation_p.A166V|CD1E_ENST00000368154.1_Missense_Mutation_p.A123V|CD1E_ENST00000368160.3_Missense_Mutation_p.A355V|CD1E_ENST00000368155.3_Missense_Mutation_p.A210V|CD1E_ENST00000368157.1_Missense_Mutation_p.A111V|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.A265V|CD1E_ENST00000368163.3_Missense_Mutation_p.A300V|CD1E_ENST00000452291.2_Missense_Mutation_p.A178V	p.A268V	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			5	1096	+	all_hematologic(112;0.0378)		367			Ig-like.		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.803C>T	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524492	0.64747	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.57907	4.92;4.38;3.05;3.05;3.21;2.63;0.37;4.44;3.17;2.82;0.39	4.76	3.85	0.44370	.	0.770342	0.11074	N	0.602538	T	0.54398	0.1856	L	0.60455	1.87	0.09310	N	1	D;D;B;D;D;D;D;D;D;B	0.71674	0.993;0.995;0.192;0.995;0.995;0.991;0.996;0.998;0.997;0.077	P;D;B;P;P;P;P;D;D;B	0.76071	0.767;0.917;0.037;0.844;0.844;0.703;0.883;0.987;0.91;0.037	T	0.45131	-0.9282	10	0.87932	D	0	-1.7945	8.8597	0.35249	0.0:0.8979:0.0:0.1021	.	268;277;210;166;355;367;178;123;265;300	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	V	268;367;178;277;166;300;111;355;265;210;123	ENSP00000402906:A268V;ENSP00000357149:A367V;ENSP00000416228:A178V;ENSP00000357147:A277V;ENSP00000357148:A166V;ENSP00000357145:A300V;ENSP00000357139:A111V;ENSP00000357142:A355V;ENSP00000357138:A265V;ENSP00000357137:A210V;ENSP00000357136:A123V	ENSP00000357136:A123V	A	+	2	0	CD1E	156593243	0.000000	0.05858	0.002000	0.10522	0.106000	0.19336	0.137000	0.15995	1.226000	0.43582	0.655000	0.94253	GCA		0.428	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		17	94	0	0	0	1	0	17	94				
MUC16	94025	broad.mit.edu	37	19	9009654	9009654	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:9009654A>T	ENST00000397910.4	-	39	39275	c.39072T>A	c.(39070-39072)taT>taA	p.Y13024*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13026	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTCCCCATACTGCAGAT	0.557																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39070-39072)taT>taA		mucin 16, cell surface associated							189.0	153.0	165.0					19																	9009654		1988	4157	6145	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9009654A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39072T>A	19.37:g.9009654A>T	ENSP00000381008:p.Tyr13024*						p.Y13024*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			39	39275	-			13026			SEA 7.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.39072T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	61	59.095790	0.99989	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	.	.	.	2.91	-3.72	0.04411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7753	8.1237	0.30986	0.4074:0.0:0.5926:0.0	.	.	.	.	X	13024;177	.	ENSP00000381008:Y13024X	Y	-	3	2	MUC16	8870654	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.662000	0.05305	-0.929000	0.03757	-0.952000	0.02654	TAT		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		44	137	0	0	0	1	0	44	137				
TENM3	55714	broad.mit.edu	37	4	183574980	183574980	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:183574980G>C	ENST00000511685.1	+	6	1168	c.1045G>C	c.(1045-1047)Gag>Cag	p.E349Q	TENM3_ENST00000406950.2_Missense_Mutation_p.E349Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	349					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGACACATTTGAGAATGGAAA	0.413																																						ENST00000511685.1																			0											c.(1045-1047)Gag>Cag		teneurin transmembrane protein 3							118.0	113.0	114.0					4																	183574980		1927	4142	6069	SO:0001583	missense	55714							g.chr4:183574980G>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1045G>C	4.37:g.183574980G>C	ENSP00000424226:p.Glu349Gln					TENM3_ENST00000406950.2_Missense_Mutation_p.E349Q	p.E349Q							6	1168	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1045G>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159889	0.57368	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87650	-2.28;-2.28	5.95	5.95	0.96441	.	.	.	.	.	D	0.91637	0.7357	M	0.62723	1.935	0.52099	D	0.999945	P	0.45126	0.851	P	0.55391	0.775	D	0.90209	0.4263	9	0.46703	T	0.11	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	349	Q9P273	TEN3_HUMAN	Q	349	ENSP00000424226:E349Q;ENSP00000385276:E349Q	ENSP00000385276:E349Q	E	+	1	0	ODZ3	183811974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.827000	0.97445	0.650000	0.86243	GAG		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			9	56	0	0	0	1	0	9	56				
CDADC1	81602	broad.mit.edu	37	13	49865877	49865877	+	Missense_Mutation	SNP	G	G	A	rs138113262		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:49865877G>A	ENST00000251108.6	+	10	1642	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	CDADC1_ENST00000444959.1_Missense_Mutation_p.R312H	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	510							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.R510H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAGAAGCTGCGCCTCGGAATC	0.463																																						ENST00000251108.6																			1	Substitution - Missense(1)	p.R510H(1)	upper_aerodigestive_tract(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(1528-1530)cGc>cAc		cytidine and dCMP deaminase domain containing 1		G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	130.0	120.0	123.0		,1529	5.7	0.6	13	dbSNP_134	123	0,8600		0,0,4300	no	intron,missense	CDADC1	NM_001193478.1,NM_030911.3	,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,510/515	49865877	1,13005	2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49865877G>A	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1529G>A	13.37:g.49865877G>A	ENSP00000251108:p.Arg510His					CDADC1_ENST00000444959.1_Missense_Mutation_p.R312H	p.R510H	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	10	1642	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	510					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.1529G>A	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085175	0.36758	2.27E-4	0.0	ENSG00000102543	ENST00000251108;ENST00000444959	.	.	.	5.71	5.71	0.89125	.	0.933760	0.09188	N	0.836460	T	0.31358	0.0794	N	0.14661	0.345	0.30874	N	0.732153	P	0.36660	0.564	B	0.34385	0.181	T	0.27123	-1.0083	9	0.34782	T	0.22	2.4617	16.5796	0.84711	0.0:0.0:1.0:0.0	.	510	Q9BWV3	CDAC1_HUMAN	H	510;312	.	ENSP00000251108:R510H	R	+	2	0	CDADC1	48763878	0.999000	0.42202	0.594000	0.28785	0.035000	0.12851	3.233000	0.51311	2.681000	0.91329	0.655000	0.94253	CGC		0.463	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		36	45	0	0	0	1	0	36	45				
TP53I11	9537	broad.mit.edu	37	11	44959881	44959881	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:44959881C>T	ENST00000533940.1	-	5	610	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TP53I11_ENST00000308212.5_Silent_p.A2A|TP53I11_ENST00000395648.3_Silent_p.A2A|TP53I11_ENST00000525680.1_Silent_p.A2A|TP53I11_ENST00000531928.2_Silent_p.A2A|TP53I11_ENST00000531130.2_5'UTR	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	2					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						GCTGCTTGGCCGCCATCTTCT	0.667																																						ENST00000533940.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						c.(4-6)gcG>gcA		tumor protein p53 inducible protein 11							26.0	28.0	27.0					11																	44959881		2201	4298	6499	SO:0001819	synonymous_variant	9537				negative regulation of cell proliferation|response to stress	integral to membrane		g.chr11:44959881C>T	AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.6G>A	11.37:g.44959881C>T						TP53I11_ENST00000395648.3_Silent_p.A2A|TP53I11_ENST00000525680.1_Silent_p.A2A|TP53I11_ENST00000308212.5_Silent_p.A2A|TP53I11_ENST00000531928.2_Silent_p.A2A|TP53I11_ENST00000531130.2_5'UTR	p.A2A	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN			5	610	-			2					Q3ZCS0	Silent	SNP	ENST00000533940.1	37	c.6G>A	CCDS7911.1																																																																																				0.667	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		3	14	0	0	0	1	0	3	14				
CNGB3	54714	broad.mit.edu	37	8	87683198	87683198	+	Missense_Mutation	SNP	G	G	T	rs139207764	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:87683198G>T	ENST00000320005.5	-	4	514	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	156			S -> F (in ACHM3). {ECO:0000269|PubMed:15657609}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTCGGGTGAGGAGAGATCTCC	0.473																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(466-468)tCc>tAc		cyclic nucleotide gated channel beta 3							206.0	205.0	205.0					8																	87683198		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683198G>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.467C>A	8.37:g.87683198G>T	ENSP00000316605:p.Ser156Tyr						p.S156Y	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			4	514	-			156		S -> F (in ACHM3).			C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.467C>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953791	0.73902	.	.	ENSG00000170289	ENST00000320005	T	0.62232	0.04	5.53	4.64	0.57946	.	0.068380	0.64402	D	0.000015	T	0.73877	0.3643	M	0.61703	1.905	0.40263	D	0.978194	D;D	0.58268	0.982;0.97	P;P	0.61132	0.884;0.769	T	0.77918	-0.2408	10	0.72032	D	0.01	.	14.793	0.69857	0.0706:0.0:0.9294:0.0	.	156;156	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Y	156	ENSP00000316605:S156Y	ENSP00000316605:S156Y	S	-	2	0	CNGB3	87752314	1.000000	0.71417	0.708000	0.30435	0.666000	0.39218	8.226000	0.89785	1.302000	0.44855	0.591000	0.81541	TCC		0.473	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		77	182	1	0	1.1397e-45	1	1.44324e-45	77	182				
BBS7	55212	broad.mit.edu	37	4	122756431	122756431	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:122756431G>C	ENST00000264499.4	-	14	1562	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.S460*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	460					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCCTTCAATTGAGCGAATCTG	0.358									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1378-1380)tCa>tGa		Bardet-Biedl syndrome 7							168.0	151.0	156.0					4																	122756431		2203	4300	6503	SO:0001587	stop_gained	55212	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122756431G>C	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1379C>G	4.37:g.122756431G>C	ENSP00000264499:p.Ser460*					BBS7_ENST00000506636.1_Nonsense_Mutation_p.S460*	p.S460*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			14	1562	-			460					Q4W5P8|Q8N581|Q9NVI4	Nonsense_Mutation	SNP	ENST00000264499.4	37	c.1379C>G	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	39	7.801103	0.98498	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-10.6321	19.2795	0.94046	0.0:0.0:1.0:0.0	.	.	.	.	X	460	.	ENSP00000264499:S460X	S	-	2	0	BBS7	122975881	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.748000	0.98867	2.549000	0.85964	0.650000	0.86243	TCA		0.358	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			22	68	0	0	0	1	0	22	68				
HEXDC	284004	broad.mit.edu	37	17	80377699	80377699	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:80377699G>A	ENST00000327949.9	+	1	35	c.24G>A	c.(22-24)caG>caA	p.Q8Q	HEXDC_ENST00000337014.6_Silent_p.Q8Q|OGFOD3_ENST00000313056.5_5'Flank|OGFOD3_ENST00000329197.5_5'Flank|HEXDC_ENST00000577944.1_Silent_p.Q8Q|Y_RNA_ENST00000364369.1_RNA			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	8					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTCCATTTCAGATGAGATTAG	0.428																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(22-24)caG>caA		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							92.0	93.0	93.0					17																	80377699		1876	4088	5964	SO:0001819	synonymous_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80377699G>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.24G>A	17.37:g.80377699G>A						HEXDC_ENST00000577944.1_Silent_p.Q8Q|HEXDC_ENST00000327949.9_Silent_p.Q8Q	p.Q8Q	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		2	498	+	Breast(20;0.00106)|all_neural(118;0.0804)		8					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.24G>A																																																																																					0.428	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		7	53	0	0	0	1	0	7	53				
RYR3	6263	broad.mit.edu	37	15	33926849	33926849	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:33926849G>C	ENST00000389232.4	+	25	3160	c.3090G>C	c.(3088-3090)aaG>aaC	p.K1030N	RYR3_ENST00000415757.3_Missense_Mutation_p.K1030N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1030	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCGTACCAAGAAGTCAAACA	0.458																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3088-3090)aaG>aaC		ryanodine receptor 3							144.0	141.0	142.0					15																	33926849		1932	4143	6075	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33926849G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3090G>C	15.37:g.33926849G>C	ENSP00000373884:p.Lys1030Asn					RYR3_ENST00000415757.3_Missense_Mutation_p.K1030N	p.K1030N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	25	3160	+		all_lung(180;7.18e-09)	1030			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3090G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923355	0.73213	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95137	-3.62;-3.62	5.35	4.44	0.53790	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	M	0.93328	3.405	0.58432	D	0.999994	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.98119	1.0424	10	0.87932	D	0	.	11.2694	0.49129	0.1582:0.0:0.8418:0.0	.	1030;1030	Q15413-2;Q15413	.;RYR3_HUMAN	N	1030	ENSP00000373884:K1030N;ENSP00000399610:K1030N	ENSP00000354735:K1030N	K	+	3	2	RYR3	31714141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.368000	0.34216	1.637000	0.50538	0.655000	0.94253	AAG		0.458	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			37	87	0	0	0	1	0	37	87				
MYO19	80179	broad.mit.edu	37	17	34863272	34863272	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:34863272C>T	ENST00000431794.3	-	16	1955	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	478	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATGGGGCTTCCCTCAATGAG	0.522																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1432-1434)gGa>gAa		myosin XIX							111.0	100.0	104.0					17																	34863272		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34863272C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1433G>A	17.37:g.34863272C>T	ENSP00000409936:p.Gly478Glu					MYO19_ENST00000268852.9_Intron	p.G478E	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	16	1955	-		Breast(25;0.00957)|Ovarian(249;0.17)	478			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1433G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166101	0.94768	.	.	ENSG00000141140	ENST00000415126;ENST00000431794	D	0.86562	-2.14	5.59	5.59	0.84812	Myosin head, motor domain (3);	.	.	.	.	D	0.90253	0.6952	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86028	0.1511	9	0.12430	T	0.62	.	18.1672	0.89732	0.0:1.0:0.0:0.0	.	478	Q96H55	MYO19_HUMAN	E	213;478	ENSP00000409936:G478E	ENSP00000397134:G213E	G	-	2	0	MYO19	31937385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.367000	0.66127	2.645000	0.89757	0.655000	0.94253	GGA		0.522	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		14	54	0	0	0	1	0	14	54				
PCNXL4	64430	broad.mit.edu	37	14	60587916	60587916	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:60587916C>G	ENST00000406854.1	+	8	2499	c.1945C>G	c.(1945-1947)Ctc>Gtc	p.L649V	PCNXL4_ENST00000406949.1_Missense_Mutation_p.L415V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L649V|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L415V|PCNXL4_ENST00000535349.1_5'UTR			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	649						integral component of membrane (GO:0016021)											TGTTGTAGGTCTCCTCCTACC	0.308																																						ENST00000406854.1																			0											c.(1945-1947)Ctc>Gtc		pecanex-like 4 (Drosophila)							139.0	128.0	132.0					14																	60587916		2203	4300	6503	SO:0001583	missense	64430							g.chr14:60587916C>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1945C>G	14.37:g.60587916C>G	ENSP00000384801:p.Leu649Val					PCNXL4_ENST00000406949.1_Missense_Mutation_p.L415V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L649V|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L415V|PCNXL4_ENST00000535349.1_5'UTR	p.L649V							8	2499	+								A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.1945C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.258|9.258	1.042427|1.042427	0.19748|0.19748	.|.	.|.	ENSG00000126773|ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681|ENST00000554534	T;T;T;T|.	0.24350|.	1.89;1.89;1.86;1.89|.	5.58|5.58	1.36|1.36	0.22044|0.22044	.|.	0.386281|.	0.29260|.	N|.	0.012680|.	T|T	0.57740|0.57740	0.2074|0.2074	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B;P|.	0.36378|.	0.039;0.55|.	B;B|.	0.34138|.	0.032;0.176|.	T|T	0.51116|0.51116	-0.8746|-0.8746	10|5	0.29301|.	T|.	0.29|.	.|.	5.877|5.877	0.18834|0.18834	0.2662:0.5516:0.1156:0.0666|0.2662:0.5516:0.1156:0.0666	.|.	649;415|.	Q63HM2;B5MC47|.	CN135_HUMAN;.|.	V|C	415;649;415;649|67	ENSP00000317396:L415V;ENSP00000384801:L649V;ENSP00000385201:L415V;ENSP00000385713:L649V|.	ENSP00000317396:L415V|.	L|S	+|+	1|2	0|0	C14orf135|C14orf135	59657669|59657669	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.755000|0.755000	0.42902|0.42902	1.903000|1.903000	0.39858|0.39858	0.251000|0.251000	0.21505|0.21505	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.308	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		85	86	0	0	0	1	0	85	86				
PEX13	5194	broad.mit.edu	37	2	61259091	61259091	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:61259091C>T	ENST00000295030.5	+	2	668	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	210	Targeting to peroxisomes.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ATGAAGACCTCTGGGCAGAGA	0.463																																						ENST00000295030.4																			0				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(628-630)ctC>ctT		peroxisomal biogenesis factor 13							103.0	95.0	98.0					2																	61259091		2203	4300	6503	SO:0001819	synonymous_variant	5194				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding	g.chr2:61259091C>T	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.630C>T	2.37:g.61259091C>T							p.L210L	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)		2	668	+			210			Targeting to peroxisomes.		B2RCS1	Silent	SNP	ENST00000295030.5	37	c.630C>T	CCDS1866.1																																																																																				0.463	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618		27	65	0	0	0	1	0	27	65				
PJA2	9867	broad.mit.edu	37	5	108713935	108713935	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:108713935T>C	ENST00000361189.2	-	4	1492	c.1253A>G	c.(1252-1254)tAt>tGt	p.Y418C	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Missense_Mutation_p.Y418C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	418					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GAGTTGGTAATAATCTCCACA	0.398																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1252-1254)tAt>tGt		praja ring finger 2, E3 ubiquitin protein ligase							169.0	148.0	155.0					5																	108713935		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108713935T>C	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1253A>G	5.37:g.108713935T>C	ENSP00000354775:p.Tyr418Cys					PJA2_ENST00000361557.3_Missense_Mutation_p.Y418C	p.Y418C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	1492	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	418					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1253A>G	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640480	0.47153	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05649	3.41;3.41	5.42	5.42	0.78866	.	0.095699	0.46442	D	0.000281	T	0.10337	0.0253	L	0.56769	1.78	0.29743	N	0.836988	B	0.28208	0.203	B	0.35278	0.199	T	0.03761	-1.1006	10	0.72032	D	0.01	-21.179	10.0606	0.42273	0.0:0.1193:0.0:0.8807	.	418	O43164	PJA2_HUMAN	C	418	ENSP00000354775:Y418C;ENSP00000355284:Y418C	ENSP00000354775:Y418C	Y	-	2	0	PJA2	108741834	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.954000	0.40362	2.194000	0.70268	0.528000	0.53228	TAT		0.398	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		43	41	0	0	0	1	0	43	41				
ROBO3	64221	broad.mit.edu	37	11	124749214	124749214	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:124749214C>T	ENST00000397801.1	+	24	3854	c.3662C>T	c.(3661-3663)cCt>cTt	p.P1221L	ROBO3_ENST00000538940.1_Missense_Mutation_p.P1199L|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1221					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTCCTGCCCCTAGCACAGCC	0.632																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(3661-3663)cCt>cTt		roundabout, axon guidance receptor, homolog 3 (Drosophila)							28.0	36.0	33.0					11																	124749214		1959	4138	6097	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124749214C>T	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3662C>T	11.37:g.124749214C>T	ENSP00000380903:p.Pro1221Leu					ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.P1199L|ROBO3_ENST00000543966.1_5'UTR	p.P1221L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	24	3854	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1221						Missense_Mutation	SNP	ENST00000397801.1	37	c.3662C>T	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971936	0.74246	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.61040	0.14;0.15	5.04	5.04	0.67666	.	0.000000	0.38837	N	0.001542	T	0.51176	0.1659	L	0.44542	1.39	0.80722	D	1	B	0.27823	0.19	B	0.30029	0.11	T	0.51631	-0.8681	10	0.48119	T	0.1	.	13.7479	0.62887	0.0:1.0:0.0:0.0	.	1221	Q96MS0	ROBO3_HUMAN	L	1221;1199	ENSP00000380903:P1221L;ENSP00000441797:P1199L	ENSP00000380903:P1221L	P	+	2	0	ROBO3	124254424	0.003000	0.15002	0.634000	0.29324	0.970000	0.65996	1.533000	0.36040	2.601000	0.87937	0.655000	0.94253	CCT		0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	6	0	0	0	1	0	3	6				
TKTL1	8277	broad.mit.edu	37	X	153539342	153539342	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:153539342G>A	ENST00000369915.3	+	4	695	c.506G>A	c.(505-507)tGc>tAc	p.C169Y	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.C113Y	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	169					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGAGCACTGCATAAACATC	0.507																																						ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(505-507)tGc>tAc		transketolase-like 1							125.0	104.0	111.0					X																	153539342		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153539342G>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.506G>A	X.37:g.153539342G>A	ENSP00000358931:p.Cys169Tyr					TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.C113Y	p.C169Y	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			4	695	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		169					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.506G>A	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	5.682	0.310453	0.10733	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912	T;T;T	0.29397	1.57;1.57;1.57	4.29	2.48	0.30137	Transketolase, N-terminal (1);	0.457400	0.27258	N	0.020190	T	0.20981	0.0505	L	0.39898	1.24	0.32255	N	0.570873	B;B	0.12013	0.005;0.005	B;B	0.15052	0.012;0.012	T	0.13442	-1.0509	10	0.66056	D	0.02	-10.0359	3.471	0.07567	0.3121:0.1952:0.4927:0.0	.	163;169	B7Z7I0;P51854	.;TKTL1_HUMAN	Y	169;113;169;113	ENSP00000358931:C169Y;ENSP00000401111:C169Y;ENSP00000358928:C113Y	ENSP00000358928:C113Y	C	+	2	0	TKTL1	153192536	0.760000	0.28428	0.072000	0.20136	0.090000	0.18270	2.817000	0.48034	0.384000	0.24942	0.529000	0.55759	TGC		0.507	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		57	16	0	0	0	1	0	57	16				
TCEA2	6919	broad.mit.edu	37	20	62701612	62701612	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:62701612C>T	ENST00000343484.5	+	7	686		c.e7-1		TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Splice_Site	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2						DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					AACACTTGCACGCATCTTCCG	0.577											OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361317.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12						c.e8-1		transcription elongation factor A (SII), 2							135.0	120.0	125.0					20																	62701612		2203	4300	6503	SO:0001630	splice_region_variant	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701612C>T	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.518-1C>T	20.37:g.62701612C>T			OREG0026140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1063	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000343484.5_Splice_Site|TCEA2_ENST00000465111.1_3'UTR		NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN			8	878	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)							B3KNM1|Q8TD37|Q8TD38	Splice_Site	SNP	ENST00000343484.5	37		CCDS13553.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724842	0.68959	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5966	0.84798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCEA2	62172056	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.280000	0.78610	1.971000	0.57363	0.561000	0.74099	.		0.577	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723	Intron	15	106	0	0	0	1	0	15	106				
UNC13C	440279	broad.mit.edu	37	15	54586205	54586205	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:54586205C>A	ENST00000260323.11	+	10	3931	c.3931C>A	c.(3931-3933)Caa>Aaa	p.Q1311K	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1309K|UNC13C_ENST00000545554.1_Missense_Mutation_p.Q1311K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1311	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTCTGGGACAAACAATTGT	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3931-3933)Caa>Aaa		unc-13 homolog C (C. elegans)							223.0	229.0	227.0					15																	54586205		1896	4121	6017	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586205C>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3931C>A	15.37:g.54586205C>A	ENSP00000260323:p.Gln1311Lys					UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1311K|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1309K	p.Q1311K			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3931	+			1311			C2 1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3931C>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835115	0.91117	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.68765	-0.35;-0.35;-0.35	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056587	0.64402	D	0.000001	T	0.78710	0.4326	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.989	T	0.77702	-0.2489	10	0.54805	T	0.06	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	1311;1311	F5H090;Q8NB66	.;UN13C_HUMAN	K	1311;1311;1309	ENSP00000260323:Q1311K;ENSP00000438156:Q1311K;ENSP00000442569:Q1309K	ENSP00000260323:Q1311K	Q	+	1	0	UNC13C	52373497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.814000	0.96858	0.650000	0.86243	CAA		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		47	116	1	0	3.37225e-12	1	3.86276e-12	47	116				
RSPH9	221421	broad.mit.edu	37	6	43612827	43612827	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:43612827G>A	ENST00000372163.4	+	0	45				RSPH9_ENST00000372165.4_De_novo_Start_OutOfFrame	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)						axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGCGGAGCCGCTGACCTGAT	0.687									Kartagener syndrome																													ENST00000372165.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12								radial spoke head 9 homolog (Chlamydomonas)							16.0	16.0	16.0					6																	43612827		2191	4276	6467			221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43612827G>A	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.-9G>A	6.37:g.43612827G>A						RSPH9_ENST00000372163.4_De_novo_Start_OutOfFrame		NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN			0	45	+								A8K5T4|Q96NH9	Translation_Start_Site	SNP	ENST00000372163.4	37		CCDS4905.1																																																																																				0.687	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		12	28	0	0	0	1	0	12	28				
CARD11	84433	broad.mit.edu	37	7	2987215	2987215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:2987215G>A	ENST00000396946.4	-	3	617	c.214C>T	c.(214-216)Cga>Tga	p.R72*	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	72	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTACCTGCTCGGTTGATCTTG	0.527			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(214-216)Cga>Tga		caspase recruitment domain family, member 11							198.0	148.0	165.0					7																	2987215		2203	4300	6503	SO:0001587	stop_gained	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2987215G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.214C>T	7.37:g.2987215G>A	ENSP00000380150:p.Arg72*						p.R72*	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	617	-		Ovarian(82;0.0115)	72			CARD.		A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	ENST00000396946.4	37	c.214C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	35	5.540631	0.96474	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.4496	9.2688	0.37659	0.0738:0.0:0.7808:0.1454	.	.	.	.	X	72	.	ENSP00000348779:R72X	R	-	1	2	CARD11	2953741	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.610000	0.54125	2.668000	0.90789	0.650000	0.86243	CGA		0.527	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		9	141	0	0	0	1	0	9	141				
XPNPEP3	63929	broad.mit.edu	37	22	41277951	41277951	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:41277951A>T	ENST00000357137.4	+	3	443	c.359A>T	c.(358-360)aAt>aTt	p.N120I	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.N120I|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.N120I|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.N97I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	120					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CAAGACAACAATTTCCTGTAC	0.463																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(358-360)aAt>aTt		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							198.0	163.0	174.0					22																	41277951		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41277951A>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.359A>T	22.37:g.41277951A>T	ENSP00000349658:p.Asn120Ile					XPNPEP3_ENST00000414396.1_Missense_Mutation_p.N120I|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.N120I|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.N97I	p.N120I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			3	443	+			120					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.359A>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268500	0.59540	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.91	3.77	0.43336	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.144445	0.64402	D	0.000005	D	0.85327	0.5671	M	0.85197	2.74	0.29503	N	0.854769	D;P	0.63880	0.993;0.824	P;P	0.57057	0.812;0.766	T	0.82368	-0.0492	10	0.87932	D	0	.	10.5492	0.45079	0.8682:0.0:0.1318:0.0	.	120;120	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	I	120;120;120;97	ENSP00000443682:N120I;ENSP00000397110:N120I;ENSP00000349658:N120I;ENSP00000441942:N97I	ENSP00000349658:N120I	N	+	2	0	XPNPEP3	39607897	1.000000	0.71417	0.789000	0.31954	0.674000	0.39518	7.169000	0.77578	0.472000	0.27344	-0.379000	0.06801	AAT		0.463	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		15	73	0	0	0	1	0	15	73				
NOVA1	4857	broad.mit.edu	37	14	26939671	26939671	+	Nonstop_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:26939671C>A	ENST00000344429.5	-	5	548	c.545G>T	c.(544-546)tGa>tTa	p.*182L	NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000465357.2_Intron	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	0	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATCTTGCTTCATGATATCCA	0.264																																						ENST00000344429.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(544-546)tGa>tTa		neuro-oncological ventral antigen 1							83.0	86.0	85.0					14																	26939671		2199	4285	6484	SO:0001578	stop_lost	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26939671C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.545G>T	14.37:g.26939671C>A						NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000465357.2_Intron	p.*182L	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	548	-			0			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Nonstop_Mutation	SNP	ENST00000344429.5	37	c.545G>T	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	8.041	0.763861	0.15914	.	.	ENSG00000139910	ENST00000344429	.	.	.	5.17	0.788	0.18601	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4388	0.02350	0.166:0.362:0.2863:0.1856	.	.	.	.	L	182	.	.	X	-	2	2	NOVA1	26009511	0.000000	0.05858	0.252000	0.24328	0.550000	0.35303	-0.379000	0.07437	0.570000	0.29347	0.650000	0.86243	TGA		0.264	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		23	162	1	0	3.08376e-08	1	3.37873e-08	23	162				
IL12A-AS1	101928376	broad.mit.edu	37	3	159818970	159818970	+	RNA	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:159818970G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		ACGCCCCTGTGAGATTAGACT	0.483																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159818970G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159818970G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.483	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			63	184	0	0	0	1	0	63	184				
TRIM21	6737	broad.mit.edu	37	11	4411329	4411329	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:4411329T>A	ENST00000254436.7	-	2	423	c.311A>T	c.(310-312)gAg>gTg	p.E104V	TRIM21_ENST00000543625.1_Missense_Mutation_p.E104V	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	104					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCCATCTTTCTCACAGAACAG	0.557																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(310-312)gAg>gTg		tripartite motif containing 21							80.0	86.0	84.0					11																	4411329		2059	4201	6260	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411329T>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.311A>T	11.37:g.4411329T>A	ENSP00000254436:p.Glu104Val					TRIM21_ENST00000543625.1_Missense_Mutation_p.E104V	p.E104V	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	423	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	104					Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.311A>T	CCDS44525.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050919	0.75960	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.46063	0.88;0.88	4.32	4.32	0.51571	Zinc finger, B-box, chordata (1);Zinc finger, B-box (3);	0.126252	0.36374	N	0.002623	T	0.53562	0.1804	L	0.55017	1.72	0.33220	D	0.554532	D	0.58268	0.982	P	0.59825	0.864	T	0.67428	-0.5673	10	0.87932	D	0	.	12.1094	0.53830	0.0:0.0:0.0:1.0	.	104	P19474	RO52_HUMAN	V	104	ENSP00000254436:E104V;ENSP00000444045:E104V	ENSP00000254436:E104V	E	-	2	0	TRIM21	4367905	0.979000	0.34478	1.000000	0.80357	0.967000	0.64934	5.492000	0.66893	2.174000	0.68829	0.459000	0.35465	GAG		0.557	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		22	52	0	0	0	1	0	22	52				
KCNJ1	3758	broad.mit.edu	37	11	128709573	128709573	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:128709573C>T	ENST00000392664.2	-	2	739	c.623G>A	c.(622-624)tGc>tAc	p.C208Y	KCNJ1_ENST00000440599.2_Missense_Mutation_p.C189Y|KCNJ1_ENST00000392666.1_Missense_Mutation_p.C189Y|KCNJ1_ENST00000392665.2_Missense_Mutation_p.C189Y|KCNJ1_ENST00000324036.3_Missense_Mutation_p.C189Y	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	208					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GATTAGGAGGCAAAGCTTCCC	0.502																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(565-567)tGc>tAc		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						83.0	79.0	80.0					11																	128709573		2194	4285	6479	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709573C>T	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.623G>A	11.37:g.128709573C>T	ENSP00000376432:p.Cys208Tyr					KCNJ1_ENST00000324036.3_Missense_Mutation_p.C189Y|KCNJ1_ENST00000392666.1_Missense_Mutation_p.C189Y|KCNJ1_ENST00000440599.2_Missense_Mutation_p.C189Y|KCNJ1_ENST00000392664.2_Missense_Mutation_p.C208Y	p.C189Y	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	710	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	208					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.566G>A	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522282	0.64747	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78	5.71	5.71	0.89125	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.044035	0.85682	D	0.000000	D	0.98024	0.9349	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98485	1.0607	10	0.87932	D	0	.	19.8655	0.96803	0.0:1.0:0.0:0.0	.	208	P48048	IRK1_HUMAN	Y	189;189;189;189;208	ENSP00000376433:C189Y;ENSP00000376434:C189Y;ENSP00000406320:C189Y;ENSP00000316233:C189Y;ENSP00000376432:C208Y	ENSP00000316233:C189Y	C	-	2	0	KCNJ1	128214783	1.000000	0.71417	0.379000	0.26080	0.897000	0.52465	6.044000	0.71012	2.690000	0.91761	0.514000	0.50259	TGC		0.502	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		32	64	0	0	0	1	0	32	64				
HMGXB4	10042	broad.mit.edu	37	22	35661485	35661485	+	Nonsense_Mutation	SNP	C	C	G	rs371525087		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:35661485C>G	ENST00000216106.5	+	5	1232	c.1104C>G	c.(1102-1104)taC>taG	p.Y368*	HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.Y259*	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	368					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATCCCATACGCTGGAGCAG	0.517																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1102-1104)taC>taG		HMG box domain containing 4							58.0	62.0	61.0					22																	35661485		2203	4300	6503	SO:0001587	stop_gained	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661485C>G	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1104C>G	22.37:g.35661485C>G	ENSP00000216106:p.Tyr368*					HMGXB4_ENST00000444518.2_Nonsense_Mutation_p.Y259*	p.Y368*	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	1232	+			368					O75672|O75673|Q9UMT5	Nonsense_Mutation	SNP	ENST00000216106.5	37	c.1104C>G	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961176	0.74016	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	.	.	.	4.85	1.63	0.23807	.	1.663810	0.02670	N	0.108490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0054	9.8563	0.41088	0.0:0.7113:0.0:0.2887	.	.	.	.	X	259;259;259;368	.	ENSP00000216106:Y368X	Y	+	3	2	HMGXB4	33991485	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.019000	0.13444	0.264000	0.21851	-0.157000	0.13467	TAC		0.517	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		14	77	0	0	0	1	0	14	77				
PPM1K	152926	broad.mit.edu	37	4	89199431	89199431	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:89199431C>G	ENST00000608933.1	-	2	694	c.305G>C	c.(304-306)gGc>gCc	p.G102A	PPM1K_ENST00000315194.4_Missense_Mutation_p.G102A|PPM1K_ENST00000295908.7_Missense_Mutation_p.G102A|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000514204.1_Missense_Mutation_p.G102A|RNU6-112P_ENST00000363599.1_RNA|PPM1K_ENST00000508256.1_Intron	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	102	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTTCCGTTTGCCAATCTGTGA	0.498																																						ENST00000295908.6																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13						c.(304-306)gGc>gCc		protein phosphatase, Mg2+/Mn2+ dependent, 1K							106.0	93.0	97.0					4																	89199431		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199431C>G	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.305G>C	4.37:g.89199431C>G	ENSP00000477341:p.Gly102Ala					PPM1K_ENST00000315194.4_Missense_Mutation_p.G102A|PPM1K_ENST00000513546.2_5'UTR|PPM1K_ENST00000506423.1_Missense_Mutation_p.G102A	p.G102A	NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	694	-		Hepatocellular(203;0.114)	102			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.305G>C	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496067	0.85069	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.20738	2.05;2.05;2.05	4.39	4.39	0.52855	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.993	T	0.65776	-0.6086	10	0.87932	D	0	-18.1409	16.2792	0.82664	0.0:1.0:0.0:0.0	.	102;102;102	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	A	102	ENSP00000295908:G102A;ENSP00000424155:G102A;ENSP00000324761:G102A	ENSP00000295908:G102A	G	-	2	0	PPM1K	89418455	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.604000	0.82830	2.450000	0.82876	0.313000	0.20887	GGC		0.498	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		25	36	0	0	0	1	0	25	36				
MRPS17	51373	broad.mit.edu	37	7	56022709	56022709	+	Silent	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:56022709G>C	ENST00000285298.4	+	3	360	c.231G>C	c.(229-231)gtG>gtC	p.V77V	MRPS17_ENST00000426595.1_Silent_p.V172V	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	77					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAAGCATGTGAAACATGAAC	0.473																																						ENST00000285298.4																			0				kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(229-231)gtG>gtC		mitochondrial ribosomal protein S17							164.0	164.0	164.0					7																	56022709		2203	4300	6503	SO:0001819	synonymous_variant	51373				translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr7:56022709G>C	AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.231G>C	7.37:g.56022709G>C						MRPS17_ENST00000426595.1_Silent_p.V172V	p.V77V	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	360	+	Breast(14;0.214)		77					Q86X15	Silent	SNP	ENST00000285298.4	37	c.231G>C	CCDS5520.1																																																																																				0.473	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2	NM_015969		5	316	0	0	0	1	0	5	316				
OR5AC2	81050	broad.mit.edu	37	3	97806442	97806442	+	Silent	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:97806442C>G	ENST00000358642.2	+	1	426	c.426C>G	c.(424-426)ctC>ctG	p.L142L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	142					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L142L(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CCAACAAACTCAGCGCTCAGT	0.418																																						ENST00000358642.2																			1	Substitution - coding silent(1)	p.L142L(1)	large_intestine(1)	endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(424-426)ctC>ctG		olfactory receptor, family 5, subfamily AC, member 2							203.0	191.0	195.0					3																	97806442		2203	4300	6503	SO:0001819	synonymous_variant	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806442C>G	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.426C>G	3.37:g.97806442C>G							p.L142L	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	426	+			142						Silent	SNP	ENST00000358642.2	37	c.426C>G	CCDS33796.1																																																																																				0.418	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			71	291	0	0	0	1	0	71	291				
SEC63	11231	broad.mit.edu	37	6	108197819	108197819	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:108197819C>T	ENST00000369002.4	-	19	2162	c.1983G>A	c.(1981-1983)caG>caA	p.Q661Q		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	661	SEC63 2.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATATTAATGTCTGCTCCTTCC	0.363																																						ENST00000369002.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1981-1983)caG>caA		SEC63 homolog (S. cerevisiae)							302.0	246.0	265.0					6																	108197819		2203	4300	6503	SO:0001819	synonymous_variant	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108197819C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1983G>A	6.37:g.108197819C>T							p.Q661Q	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	19	2162	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	661			SEC63 2.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Silent	SNP	ENST00000369002.4	37	c.1983G>A	CCDS5061.1																																																																																				0.363	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		28	148	0	0	0	1	0	28	148				
NEIL3	55247	broad.mit.edu	37	4	178283546	178283546	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:178283546C>A	ENST00000264596.3	+	10	1857	c.1739C>A	c.(1738-1740)cCt>cAt	p.P580H		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	580					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTTGTGTGTCCTCTTGGGAAG	0.398								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1738-1740)cCt>cAt	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							91.0	98.0	96.0					4																	178283546		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178283546C>A	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1739C>A	4.37:g.178283546C>A	ENSP00000264596:p.Pro580His						p.P580H	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	10	1857	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	580					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1739C>A	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208491	0.58343	.	.	ENSG00000109674	ENST00000264596	T	0.36520	1.25	5.16	5.16	0.70880	Zinc finger, GRF-type (1);	0.124718	0.52532	D	0.000061	T	0.61640	0.2363	M	0.73319	2.225	0.53688	D	0.999972	D	0.89917	1.0	D	0.81914	0.995	T	0.65063	-0.6259	10	0.87932	D	0	-15.9183	19.0279	0.92941	0.0:1.0:0.0:0.0	.	580	Q8TAT5	NEIL3_HUMAN	H	580	ENSP00000264596:P580H	ENSP00000264596:P580H	P	+	2	0	NEIL3	178520540	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.066000	0.57520	2.593000	0.87608	0.491000	0.48974	CCT		0.398	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		20	97	1	0	1.55795e-14	1	1.83459e-14	20	97				
AGAP6	414189	broad.mit.edu	37	10	51768660	51768660	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:51768660G>T	ENST00000374056.4	+	7	1104	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	236					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G259W(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATCTGAGAAAGGGAGTGACCC	0.562																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.G259W(2)	lung(2)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(706-708)Ggg>Tgg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51768660G>T		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.706G>T	10.37:g.51768660G>T	ENSP00000363168:p.Gly236Trp					AGAP6_ENST00000412531.3_Missense_Mutation_p.G259W	p.G236W			C9IYN2	C9IYN2_HUMAN			7	1104	+			259						Missense_Mutation	SNP	ENST00000374056.4	37	c.706G>T		.	.	.	.	.	.	.	.	.	.	.	14.80	2.642559	0.47153	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.062808	0.64402	D	0.000009	T	0.67590	0.2909	M	0.72894	2.215	0.38579	D	0.950147	D	0.76494	0.999	D	0.77004	0.989	T	0.67078	-0.5761	9	0.87932	D	0	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	259	C9IYN2	.	W	259;236	.	ENSP00000363168:G259W	G	+	1	0	AGAP6	51438666	1.000000	0.71417	0.271000	0.24616	0.273000	0.26683	2.433000	0.44793	0.132000	0.18615	0.134000	0.15878	GGG		0.562	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		86	201	1	0	7.11685e-60	1	9.10379e-60	86	201				
NOTCH2	4853	broad.mit.edu	37	1	120510760	120510760	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:120510760T>G	ENST00000256646.2	-	7	1423	c.1204A>C	c.(1204-1206)Acc>Ccc	p.T402P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	402	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGGGCAGGTGCAAATATAT	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1204-1206)Acc>Ccc		notch 2							132.0	110.0	117.0					1																	120510760		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510760T>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1204A>C	1.37:g.120510760T>G	ENSP00000256646:p.Thr402Pro		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504		p.T402P	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1423	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	402			EGF-like 10.		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1204A>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325034	0.81580	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.92647	-3.08	5.24	5.24	0.73138	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38897	U	0.001527	D	0.94716	0.8295	M	0.76574	2.34	0.52099	D	0.999949	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.989;0.993;0.985	D	0.94803	0.7972	10	0.52906	T	0.07	.	14.4749	0.67539	0.0:0.0:0.0:1.0	.	363;402;402	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	P	402;363	ENSP00000256646:T402P	ENSP00000256646:T402P	T	-	1	0	NOTCH2	120312283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.525000	0.81892	2.202000	0.70862	0.533000	0.62120	ACC		0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		17	72	0	0	0	1	0	17	72				
MTUS1	57509	broad.mit.edu	37	8	17579364	17579364	+	Intron	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr8:17579364G>C	ENST00000262102.6	-	4	2674				MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000381861.3_Missense_Mutation_p.S16C|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GATTTTTGAAGAAATATCAGT	0.438																																						ENST00000381861.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(46-48)tCt>tGt		microtubule associated tumor suppressor 1							88.0	87.0	87.0					8																	17579364		1844	4096	5940	SO:0001627	intron_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17579364G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2449+1816C>G	8.37:g.17579364G>C						MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000262102.6_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron	p.S16C	NM_001001931.2	NP_001001931.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	1	366	-			0					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.47C>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487806	0.64074	.	.	ENSG00000129422	ENST00000381861	T	0.16457	2.34	5.48	5.48	0.80851	.	.	.	.	.	T	0.36082	0.0954	.	.	.	0.80722	D	1	P	0.52842	0.956	P	0.54026	0.74	T	0.04128	-1.0975	8	0.62326	D	0.03	.	19.7481	0.96258	0.0:0.0:1.0:0.0	.	16	Q9ULD2-6	.	C	16	ENSP00000371285:S16C	ENSP00000371285:S16C	S	-	2	0	MTUS1	17623644	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.692000	0.84203	2.738000	0.93877	0.655000	0.94253	TCT		0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		12	52	0	0	0	1	0	12	52				
ZNF80	7634	broad.mit.edu	37	3	113955304	113955304	+	Silent	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:113955304T>A	ENST00000482457.2	-	1	1121	c.618A>T	c.(616-618)cgA>cgT	p.R206R	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCATACTATGTCGGAAGAAAA	0.493																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(616-618)cgA>cgT		zinc finger protein 80							109.0	114.0	112.0					3																	113955304		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955304T>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.618A>T	3.37:g.113955304T>A							p.R206R	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	1121	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	206					Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.618A>T	CCDS2979.1																																																																																				0.493	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		10	190	0	0	0	1	0	10	190				
PRDM9	56979	broad.mit.edu	37	5	23523408	23523408	+	Missense_Mutation	SNP	G	G	T	rs376760285		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:23523408G>T	ENST00000296682.3	+	9	1073	c.891G>T	c.(889-891)aaG>aaT	p.K297N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	297	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGATCACCAAGGGGAGAAACT	0.438										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(889-891)aaG>aaT		PR domain containing 9							124.0	121.0	122.0					5																	23523408		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23523408G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.891G>T	5.37:g.23523408G>T	ENSP00000296682:p.Lys297Asn	HNSCC(3;0.000094)					p.K297N	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			9	1073	+			297			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.891G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	g	13.33	2.205132	0.39003	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.72505	-0.66	3.72	-0.992	0.10232	SET domain (2);	2.153060	0.02602	N	0.101195	T	0.79046	0.4380	L	0.51914	1.62	0.34593	D	0.71571	D	0.76494	0.999	D	0.72075	0.976	T	0.67658	-0.5614	10	0.87932	D	0	-2.6581	6.7764	0.23622	0.6646:0.0:0.3354:0.0	.	297	Q9NQV7	PRDM9_HUMAN	N	297;91	ENSP00000296682:K297N	ENSP00000253473:K91N	K	+	3	2	PRDM9	23559165	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	0.812000	0.27211	-0.076000	0.12775	-0.212000	0.12691	AAG		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		16	88	1	0	6.94344e-10	1	7.77666e-10	16	88				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	138	0	0	0	1	0	4	138				
ENO3	2027	broad.mit.edu	37	17	4859307	4859307	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:4859307C>T	ENST00000323997.6	+	9	1068	c.936C>T	c.(934-936)aaC>aaT	p.N312N	ENO3_ENST00000518175.1_Silent_p.N312N|ENO3_ENST00000519584.1_Silent_p.N269N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	312					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CGGGGGTGAACATCCAGATTG	0.577																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(934-936)aaC>aaT		enolase 3 (beta, muscle)							133.0	123.0	126.0					17																	4859307		2203	4300	6503	SO:0001819	synonymous_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4859307C>T	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.936C>T	17.37:g.4859307C>T						ENO3_ENST00000518175.1_Silent_p.N312N|ENO3_ENST00000519584.1_Silent_p.N269N	p.N312N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			9	1068	+			312					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	c.936C>T	CCDS11062.1																																																																																				0.577	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			13	83	0	0	0	1	0	13	83				
MCAT	27349	broad.mit.edu	37	22	43529248	43529248	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:43529248T>A	ENST00000290429.6	-	4	1019	c.974A>T	c.(973-975)aAg>aTg	p.K325M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	325					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CTGCTCCCACTTCACTGGGGA	0.582																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(973-975)aAg>aTg		malonyl CoA:ACP acyltransferase (mitochondrial)							107.0	107.0	107.0					22																	43529248		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529248T>A	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.974A>T	22.37:g.43529248T>A	ENSP00000290429:p.Lys325Met					MCAT_ENST00000327555.5_3'UTR	p.K325M	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1019	-		Ovarian(80;0.0694)	325					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.974A>T	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.614593	0.66672	.	.	ENSG00000100294	ENST00000290429	T	0.47528	0.84	5.46	3.35	0.38373	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.155351	0.56097	D	0.000037	T	0.63954	0.2555	M	0.83312	2.635	0.47441	D	0.999422	D	0.69078	0.997	D	0.66351	0.943	T	0.62656	-0.6808	10	0.72032	D	0.01	-18.5558	5.6078	0.17389	0.134:0.1447:0.0:0.7213	.	325	Q8IVS2	FABD_HUMAN	M	325	ENSP00000290429:K325M	ENSP00000290429:K325M	K	-	2	0	MCAT	41859192	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	2.672000	0.46850	0.385000	0.24970	0.533000	0.62120	AAG		0.582	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		124	134	0	0	0	1	0	124	134				
CTNNA2	1496	broad.mit.edu	37	2	80620362	80620362	+	Silent	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:80620362T>C	ENST00000402739.4	+	7	1088	c.1083T>C	c.(1081-1083)ccT>ccC	p.P361P	CTNNA2_ENST00000541047.1_Silent_p.P361P|CTNNA2_ENST00000361291.4_Silent_p.P395P|CTNNA2_ENST00000466387.1_Silent_p.P361P|CTNNA2_ENST00000496558.1_Silent_p.P361P|CTNNA2_ENST00000540488.1_Silent_p.P361P|CTNNA2_ENST00000343114.3_Silent_p.P40P	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	361					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGGAGATCCTCTCAACATTG	0.289																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1081-1083)ccT>ccC		catenin (cadherin-associated protein), alpha 2							94.0	89.0	91.0					2																	80620362		1822	4076	5898	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620362T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1083T>C	2.37:g.80620362T>C						CTNNA2_ENST00000540488.1_Silent_p.P361P|CTNNA2_ENST00000496558.1_Silent_p.P361P|CTNNA2_ENST00000402739.4_Silent_p.P361P|CTNNA2_ENST00000361291.4_Silent_p.P395P|CTNNA2_ENST00000343114.3_Silent_p.P40P|CTNNA2_ENST00000541047.1_Silent_p.P361P	p.P361P			P26232	CTNA2_HUMAN			12	1807	+			361					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.1083T>C																																																																																					0.289	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		23	136	0	0	0	1	0	23	136				
VPS13C	54832	broad.mit.edu	37	15	62148536	62148536	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:62148536A>T	ENST00000261517.5	-	83	11098	c.11025T>A	c.(11023-11025)gaT>gaA	p.D3675E	VPS13C_ENST00000249837.3_Missense_Mutation_p.D3632E	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAATACAAAATCTTCAAATG	0.348																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(11023-11025)gaT>gaA		vacuolar protein sorting 13 homolog C (S. cerevisiae)							119.0	115.0	116.0					15																	62148536		2202	4300	6502	SO:0001583	missense	54832				protein localization			g.chr15:62148536A>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11025T>A	15.37:g.62148536A>T	ENSP00000261517:p.Asp3675Glu					VPS13C_ENST00000249837.3_Missense_Mutation_p.D3632E	p.D3675E	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			83	11098	-			3675						Missense_Mutation	SNP	ENST00000261517.5	37	c.11025T>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	5.126	0.208849	0.09757	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.38887	1.11;1.11	5.68	-0.84	0.10755	.	0.057835	0.64402	D	0.000002	T	0.21227	0.0511	L	0.28344	0.845	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.003	T	0.31586	-0.9938	10	0.05525	T	0.97	.	9.3989	0.38420	0.547:0.0:0.453:0.0	.	3632;3675	Q709C8-3;Q709C8	.;VP13C_HUMAN	E	3632;3675	ENSP00000249837:D3632E;ENSP00000261517:D3675E	ENSP00000249837:D3632E	D	-	3	2	VPS13C	59935828	0.830000	0.29337	0.945000	0.38365	0.845000	0.48019	-0.238000	0.08977	-0.114000	0.11936	0.402000	0.26972	GAT		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		22	66	0	0	0	1	0	22	66				
CCDC141	285025	broad.mit.edu	37	2	179702112	179702112	+	Missense_Mutation	SNP	A	A	T	rs376589411		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:179702112A>T	ENST00000420890.2	-	23	3951	c.3834T>A	c.(3832-3834)gaT>gaA	p.D1278E	CCDC141_ENST00000295723.5_Missense_Mutation_p.D703E|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1278										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCTCTCTTATCATTGCATG	0.512																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3832-3834)gaT>gaA		coiled-coil domain containing 141							88.0	89.0	89.0					2																	179702112		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179702112A>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3834T>A	2.37:g.179702112A>T	ENSP00000395995:p.Asp1278Glu					CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D703E	p.D1278E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	3951	-			703					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.3834T>A		.	.	.	.	.	.	.	.	.	.	A	11.28	1.591516	0.28357	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.43294	0.95;1.55;1.55	5.56	-1.29	0.09288	.	1.168910	0.06159	N	0.675568	T	0.29652	0.0740	L	0.36672	1.1	0.09310	N	1	B;B	0.17667	0.004;0.023	B;B	0.14023	0.004;0.01	T	0.27226	-1.0080	10	0.42905	T	0.14	-0.0296	3.9639	0.09423	0.3682:0.0:0.3642:0.2676	.	703;703	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	E	1278;722;703	ENSP00000395995:D1278E;ENSP00000344627:D722E;ENSP00000295723:D703E	ENSP00000295723:D703E	D	-	3	2	CCDC141	179410357	0.000000	0.05858	0.072000	0.20136	0.939000	0.58152	0.729000	0.26028	-0.168000	0.10853	-1.158000	0.01797	GAT		0.512	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		19	66	0	0	0	1	0	19	66				
BAI3	577	broad.mit.edu	37	6	69640540	69640540	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:69640540G>T	ENST00000370598.1	+	4	1668	c.847G>T	c.(847-849)Gct>Tct	p.A283S		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	283					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCTGATGCTGCTAAATTTAT	0.348																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(847-849)Gct>Tct		brain-specific angiogenesis inhibitor 3							92.0	89.0	90.0					6																	69640540		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69640540G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.847G>T	6.37:g.69640540G>T	ENSP00000359630:p.Ala283Ser						p.A283S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			4	1668	+		all_lung(197;0.212)	283					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.847G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888184	0.52014	.	.	ENSG00000135298	ENST00000370598	T	0.19938	2.11	5.15	5.15	0.70609	.	0.134805	0.48767	D	0.000170	T	0.07863	0.0197	N	0.14661	0.345	0.80722	D	1	B	0.25105	0.118	B	0.26770	0.073	T	0.15521	-1.0434	10	0.31617	T	0.26	.	18.9928	0.92800	0.0:0.0:1.0:0.0	.	283	O60242	BAI3_HUMAN	S	283	ENSP00000359630:A283S	ENSP00000359630:A283S	A	+	1	0	BAI3	69697261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.361000	0.97122	2.559000	0.86315	0.585000	0.79938	GCT		0.348	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			14	34	1	0	7.93312e-07	1	8.54336e-07	14	34				
IGKV1D-8	28904	broad.mit.edu	37	2	90260223	90260223	+	RNA	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:90260223A>G	ENST00000471857.1	+	0	507									immunoglobulin kappa variable 1D-8																		GCAACTTATTACTGTCAACAG	0.498																																						ENST00000471857.1																			0																				121.0	134.0	130.0					2																	90260223		1857	4106	5963			28904							g.chr2:90260223A>G	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260223A>G														0	507	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.498	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		72	141	0	0	0	1	0	72	141				
GREM2	64388	broad.mit.edu	37	1	240656667	240656667	+	Missense_Mutation	SNP	C	C	T	rs533988435		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:240656667C>T	ENST00000318160.4	-	2	375	c.109G>A	c.(109-111)Ggc>Agc	p.G37S		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	37					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TTGCTGCTGCCGTCCTTGTAA	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		12421	0.001		0.0	False		,,,				2504	0.0					ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(109-111)Ggc>Agc		gremlin 2, DAN family BMP antagonist							24.0	26.0	25.0					1																	240656667		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656667C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.109G>A	1.37:g.240656667C>T	ENSP00000318650:p.Gly37Ser						p.G37S	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	375	-		all_cancers(173;0.0196)	37					Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.109G>A	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	C	6.114	0.389248	0.11581	.	.	ENSG00000180875	ENST00000318160	T	0.28454	1.61	5.15	1.79	0.24919	.	0.283053	0.34531	U	0.003896	T	0.11196	0.0273	N	0.05124	-0.11	0.34771	D	0.733763	B	0.02656	0.0	B	0.01281	0.0	T	0.24190	-1.0167	10	0.08837	T	0.75	-2.1671	6.8252	0.23878	0.0:0.5714:0.0:0.4286	.	37	Q9H772	GREM2_HUMAN	S	37	ENSP00000318650:G37S	ENSP00000318650:G37S	G	-	1	0	GREM2	238723290	0.998000	0.40836	0.995000	0.50966	0.959000	0.62525	2.471000	0.45127	0.578000	0.29487	-0.259000	0.10710	GGC		0.642	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		19	23	0	0	0	1	0	19	23				
DIS3L	115752	broad.mit.edu	37	15	66618320	66618320	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:66618320A>T	ENST00000319212.4	+	12	1869	c.1819A>T	c.(1819-1821)Att>Ttt	p.I607F	DIS3L_ENST00000441424.2_3'UTR|DIS3L_ENST00000319194.5_Missense_Mutation_p.I524F|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	607					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTTGATGATATTCCAGAATT	0.453																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1570-1572)Att>Ttt		DIS3 mitotic control homolog (S. cerevisiae)-like							131.0	124.0	126.0					15																	66618320		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66618320A>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1819A>T	15.37:g.66618320A>T	ENSP00000321711:p.Ile607Phe					DIS3L_ENST00000441424.2_3'UTR|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.I607F	p.I524F	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			12	1831	+			607					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.1570A>T	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670225	0.47677	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.35421	1.31;1.31	5.31	4.19	0.49359	Ribonuclease II/R (2);	0.181910	0.49916	D	0.000122	T	0.37544	0.1007	N	0.20685	0.6	0.80722	D	1	D;D;D	0.64830	0.994;0.985;0.985	D;P;P	0.63703	0.917;0.751;0.822	T	0.21827	-1.0234	10	0.56958	D	0.05	-20.5146	7.3177	0.26509	0.8351:0.0:0.1649:0.0	.	607;473;607	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	F	524;607	ENSP00000321583:I524F;ENSP00000321711:I607F	ENSP00000321583:I524F	I	+	1	0	DIS3L	64405374	1.000000	0.71417	0.107000	0.21349	0.241000	0.25554	3.177000	0.50871	1.991000	0.58162	0.379000	0.24179	ATT		0.453	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		44	97	0	0	0	1	0	44	97				
WIPF2	147179	broad.mit.edu	37	17	38433395	38433395	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:38433395A>G	ENST00000323571.4	+	7	1481	c.1241A>G	c.(1240-1242)tAt>tGt	p.Y414C	WIPF2_ENST00000394103.3_Missense_Mutation_p.Y156C|WIPF2_ENST00000585043.1_Missense_Mutation_p.Y414C|WIPF2_ENST00000536600.1_Missense_Mutation_p.Y156C|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.Y414C	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	414					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCAGAAGAATATAAACACTTT	0.348										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(1240-1242)tAt>tGt		WAS/WASL interacting protein family, member 2							122.0	128.0	126.0					17																	38433395		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38433395A>G	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.1241A>G	17.37:g.38433395A>G	ENSP00000320924:p.Tyr414Cys	HNSCC(43;0.11)				WIPF2_ENST00000585043.1_Missense_Mutation_p.Y414C|WIPF2_ENST00000583130.1_Missense_Mutation_p.Y414C|WIPF2_ENST00000536600.1_Missense_Mutation_p.Y156C|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Missense_Mutation_p.Y156C	p.Y414C	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			7	1481	+			414					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.1241A>G	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612109	0.66672	.	.	ENSG00000171475	ENST00000323571;ENST00000394103;ENST00000536600	T;T;T	0.63744	0.35;-0.06;-0.06	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.67725	0.953;0.928	T	0.79811	-0.1646	10	0.87932	D	0	-5.2929	10.6792	0.45804	0.8568:0.0:0.0:0.1432	.	156;414	A8MWR2;Q8TF74	.;WIPF2_HUMAN	C	414;156;156	ENSP00000320924:Y414C;ENSP00000377663:Y156C;ENSP00000439175:Y156C	ENSP00000320924:Y414C	Y	+	2	0	WIPF2	35686921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.118000	0.64673	2.180000	0.69256	0.383000	0.25322	TAT		0.348	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		26	117	0	0	0	1	0	26	117				
ADRBK1	156	broad.mit.edu	37	11	67049359	67049359	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:67049359C>T	ENST00000308595.5	+	11	1183	c.893C>T	c.(892-894)gCg>gTg	p.A298V	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A298V	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGCTTCTATGCGGCCGAGATC	0.642																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(892-894)gCg>gTg		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						88.0	86.0	87.0					11																	67049359		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67049359C>T	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.893C>T	11.37:g.67049359C>T	ENSP00000312262:p.Ala298Val					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A298V	p.A298V	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	1183	+			298			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.893C>T	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560174	0.65538	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.65732	-0.17;-0.17	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000014	T	0.73369	0.3578	L	0.40543	1.245	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.76116	-0.3077	10	0.72032	D	0.01	-0.2088	18.674	0.91523	0.0:1.0:0.0:0.0	.	298;298	P25098;E9PRV7	ARBK1_HUMAN;.	V	298	ENSP00000312262:A298V;ENSP00000434126:A298V	ENSP00000312262:A298V	A	+	2	0	ADRBK1	66805935	1.000000	0.71417	0.503000	0.27626	0.092000	0.18411	4.394000	0.59671	2.493000	0.84123	0.591000	0.81541	GCG		0.642	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		4	89	0	0	0	1	0	4	89				
AGXT2	64902	broad.mit.edu	37	5	35010177	35010177	+	Silent	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:35010177C>G	ENST00000231420.6	-	12	1466	c.1266G>C	c.(1264-1266)cgG>cgC	p.R422R		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	422					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CAAATTCATCCCGCAGCTTAG	0.428																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(1264-1266)cgG>cgC		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						149.0	135.0	140.0					5																	35010177		2203	4300	6503	SO:0001819	synonymous_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35010177C>G	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1266G>C	5.37:g.35010177C>G							p.R422R	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	12	1466	-	all_lung(31;4.52e-05)		422					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	c.1266G>C	CCDS3908.1																																																																																				0.428	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		71	73	0	0	0	1	0	71	73				
SLITRK6	84189	broad.mit.edu	37	13	86368230	86368230	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:86368230T>C	ENST00000400286.2	-	2	3012	c.2414A>G	c.(2413-2415)tAc>tGc	p.Y805C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	805					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGGACGTGAGTACATTAATGT	0.398																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2413-2415)tAc>tGc		SLIT and NTRK-like family, member 6							148.0	139.0	142.0					13																	86368230		1884	4098	5982	SO:0001583	missense	84189					integral to membrane		g.chr13:86368230T>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2414A>G	13.37:g.86368230T>C	ENSP00000383143:p.Tyr805Cys						p.Y805C	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	3012	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		805					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.2414A>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096472	0.36952	.	.	ENSG00000184564	ENST00000400286	T	0.64803	-0.12	5.84	5.84	0.93424	.	0.000000	0.64402	U	0.000008	T	0.74023	0.3662	L	0.47190	1.495	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.76429	-0.2962	10	0.87932	D	0	-9.8867	15.0542	0.71901	0.0:0.0:0.0:1.0	.	805	Q9H5Y7	SLIK6_HUMAN	C	805	ENSP00000383143:Y805C	ENSP00000383143:Y805C	Y	-	2	0	SLITRK6	85266231	1.000000	0.71417	0.995000	0.50966	0.091000	0.18340	5.984000	0.70548	2.228000	0.72767	0.533000	0.62120	TAC		0.398	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		8	113	0	0	0	1	0	8	113				
MRTO4	51154	broad.mit.edu	37	1	19581327	19581327	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:19581327T>G	ENST00000330263.4	+	2	377	c.80T>G	c.(79-81)aTa>aGa	p.I27R	MRTO4_ENST00000493700.1_3'UTR	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	27					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAACCTGATAGAAGAGGTA	0.403																																					GBM(192;2418 3032 7540 48714)	ENST00000330263.4																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8						c.(79-81)aTa>aGa		mRNA turnover 4 homolog (S. cerevisiae)							119.0	116.0	117.0					1																	19581327		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19581327T>G	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.80T>G	1.37:g.19581327T>G	ENSP00000364320:p.Ile27Arg					MRTO4_ENST00000493700.1_3'UTR	p.I27R	NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	377	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	27					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.80T>G	CCDS191.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531305	0.85706	.	.	ENSG00000053372	ENST00000330263	T	0.49432	0.78	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	M	0.87269	2.87	0.80722	D	1	P	0.46064	0.872	P	0.60609	0.877	T	0.75388	-0.3335	10	0.72032	D	0.01	-24.9434	13.1604	0.59540	0.0:0.0:0.0:1.0	.	27	Q9UKD2	MRT4_HUMAN	R	27	ENSP00000364320:I27R	ENSP00000364320:I27R	I	+	2	0	MRTO4	19453914	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.845000	0.75394	1.999000	0.58509	0.482000	0.46254	ATA		0.403	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		36	77	0	0	0	1	0	36	77				
RYR2	6262	broad.mit.edu	37	1	237880645	237880645	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:237880645C>G	ENST00000366574.2	+	72	10788	c.10471C>G	c.(10471-10473)Ctg>Gtg	p.L3491V	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3475V|RYR2_ENST00000360064.6_Missense_Mutation_p.L3489V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3491					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCATTGCTCTGGCCAAAAA	0.498																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10471-10473)Ctg>Gtg		ryanodine receptor 2 (cardiac)							73.0	78.0	77.0					1																	237880645		1933	4127	6060	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237880645C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10471C>G	1.37:g.237880645C>G	ENSP00000355533:p.Leu3491Val					RYR2_ENST00000360064.6_Missense_Mutation_p.L3489V|RYR2_ENST00000542537.1_Missense_Mutation_p.L3475V	p.L3491V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		72	10788	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3491					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10471C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510026	0.44660	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96774	-4.12;-4.09;-4.11	5.33	3.41	0.39046	.	0.000000	0.47852	D	0.000208	D	0.94712	0.8294	M	0.79123	2.44	0.80722	D	1	P	0.51057	0.941	B	0.42692	0.395	D	0.91834	0.5478	10	0.44086	T	0.13	-8.2112	7.2249	0.26010	0.1382:0.7202:0.0:0.1416	.	3491	Q92736	RYR2_HUMAN	V	3491;3489;3475;446	ENSP00000355533:L3491V;ENSP00000353174:L3489V;ENSP00000443798:L3475V	ENSP00000353174:L3489V	L	+	1	2	RYR2	235947268	0.161000	0.22892	0.990000	0.47175	0.833000	0.47200	0.708000	0.25719	0.708000	0.31955	-0.181000	0.13052	CTG		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	16	0	0	0	1	0	18	16				
CPXM1	56265	broad.mit.edu	37	20	2776512	2776512	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr20:2776512A>T	ENST00000380605.2	-	11	1517	c.1453T>A	c.(1453-1455)Tgg>Agg	p.W485R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	485					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCTTCATCCACTTGATTACT	0.637																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1453-1455)Tgg>Agg		carboxypeptidase X (M14 family), member 1							66.0	63.0	64.0					20																	2776512		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776512A>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1453T>A	20.37:g.2776512A>T	ENSP00000369979:p.Trp485Arg						p.W485R	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			11	1517	-			485					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1453T>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811202	0.70797	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.11930	2.73	5.15	5.15	0.70609	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63782	-0.6559	10	0.87932	D	0	-17.1867	12.968	0.58497	1.0:0.0:0.0:0.0	.	485	Q96SM3	CPXM1_HUMAN	R	485;181	ENSP00000369979:W485R	ENSP00000369979:W485R	W	-	1	0	CPXM1	2724512	1.000000	0.71417	0.933000	0.37362	0.908000	0.53690	9.139000	0.94554	2.169000	0.68431	0.460000	0.39030	TGG		0.637	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		23	44	0	0	0	1	0	23	44				
SLC14A1	6563	broad.mit.edu	37	18	43310271	43310271	+	5'UTR	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:43310271G>C	ENST00000321925.4	+	0	218				SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E52Q|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000589700.1_5'Flank|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000586142.1_5'UTR|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.E52Q|RP11-116O18.3_ENST00000586213.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)						transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CAAGGAGCCAGAGGAAGAGAT	0.527																																						ENST00000436407.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(154-156)Gag>Cag		solute carrier family 14 (urea transporter), member 1							89.0	86.0	87.0					18																	43310271		2203	4300	6503	SO:0001623	5_prime_UTR_variant	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43310271G>C	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.-15G>C	18.37:g.43310271G>C						SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E52Q|SLC14A1_ENST00000586142.1_5'UTR|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000321925.4_5'UTR|RP11-116O18.3_ENST00000589510.1_RNA	p.E52Q	NM_001146037.1	NP_001139509.1	Q13336	UT1_HUMAN			2	701	+			0					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.154G>C	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330341	0.24167	.	.	ENSG00000141469	ENST00000415427;ENST00000436407	T;T	0.48522	0.81;0.81	5.71	2.88	0.33553	.	.	.	.	.	T	0.34832	0.0911	L	0.44542	1.39	0.39443	D	0.96728	B	0.23806	0.091	B	0.26517	0.07	T	0.09422	-1.0675	9	0.19147	T	0.46	.	6.2188	0.20669	0.1668:0.1515:0.6818:0.0	.	52	Q13336-2	.	Q	52	ENSP00000412309:E52Q;ENSP00000390637:E52Q	ENSP00000412309:E52Q	E	+	1	0	SLC14A1	41564269	0.273000	0.24181	0.834000	0.33040	0.009000	0.06853	0.414000	0.21164	0.781000	0.33589	-0.150000	0.13652	GAG		0.527	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		15	40	0	0	0	1	0	15	40				
MTHFD2	10797	broad.mit.edu	37	2	74441341	74441341	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:74441341C>G	ENST00000394053.2	+	8	1105	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	MTHFD2_ENST00000394050.3_Missense_Mutation_p.S178C|SLC4A5_ENST00000483195.1_5'Flank|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.S240C|MTHFD2_ENST00000409804.1_Missense_Mutation_p.S214C|MTHFD2_ENST00000409601.1_Missense_Mutation_p.S259C	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	342					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GTGCTGAAGTCTAAAGAGCTT	0.473																																						ENST00000394053.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(1024-1026)tCt>tGt		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						97.0	101.0	100.0					2																	74441341		1952	4139	6091	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74441341C>G	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.1025C>G	2.37:g.74441341C>G	ENSP00000377617:p.Ser342Cys					MTHFD2_ENST00000409601.1_Missense_Mutation_p.S259C|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000409804.1_Missense_Mutation_p.S214C|MTHFD2_ENST00000394050.3_Missense_Mutation_p.S178C|MTHFD2_ENST00000264090.4_Missense_Mutation_p.S240C	p.S342C	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN			8	1105	+			342					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.1025C>G	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577972	0.45902	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T;T	0.48201	1.83;0.82;1.85;1.43;1.77	5.58	3.78	0.43462	.	0.241577	0.35805	N	0.002974	T	0.34948	0.0915	L	0.29908	0.895	0.21473	N	0.999673	P;B	0.50710	0.938;0.371	B;B	0.43360	0.417;0.215	T	0.17592	-1.0364	10	0.54805	T	0.06	.	7.6118	0.28135	0.1623:0.7541:0.0:0.0836	.	259;342	B8ZZU9;P13995	.;MTDC_HUMAN	C	342;214;240;178;259	ENSP00000377617:S342C;ENSP00000386536:S214C;ENSP00000264090:S240C;ENSP00000377614:S178C;ENSP00000386542:S259C	ENSP00000264090:S240C	S	+	2	0	MTHFD2	74294849	0.022000	0.18835	0.989000	0.46669	0.760000	0.43138	1.259000	0.32956	0.839000	0.34971	-0.905000	0.02835	TCT		0.473	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			28	64	0	0	0	1	0	28	64				
KIAA0355	9710	broad.mit.edu	37	19	34843626	34843626	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:34843626C>T	ENST00000299505.6	+	14	3852	c.2979C>T	c.(2977-2979)agC>agT	p.S993S	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	993										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGCTGCCCAGCCCCAGCGCAC	0.587																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(2977-2979)agC>agT		KIAA0355							69.0	69.0	69.0					19																	34843626		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34843626C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2979C>T	19.37:g.34843626C>T						AC010504.2_ENST00000591311.1_RNA	p.S993S	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			14	3852	+	Esophageal squamous(110;0.162)		993					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.2979C>T	CCDS12436.1																																																																																				0.587	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		37	53	0	0	0	1	0	37	53				
ERBB4	2066	broad.mit.edu	37	2	212587161	212587161	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:212587161A>T	ENST00000342788.4	-	7	1150	c.840T>A	c.(838-840)aaT>aaA	p.N280K	ERBB4_ENST00000402597.1_Missense_Mutation_p.N280K|ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000436443.1_Missense_Mutation_p.N280K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	280	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGTACTTTGCATTGAAATTGT	0.373										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(838-840)aaT>aaA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							184.0	167.0	173.0					2																	212587161		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212587161A>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.840T>A	2.37:g.212587161A>T	ENSP00000342235:p.Asn280Lys	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.N280K|ERBB4_ENST00000402597.1_Missense_Mutation_p.N280K	p.N280K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	7	1150	-		Renal(323;0.06)|Lung NSC(271;0.197)	280			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.840T>A	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.73|11.73	1.724904|1.724904	0.30593|0.30593	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.175798	.|0.64402	.|D	.|0.000007	T|T	0.24509|0.24509	0.0594|0.0594	L|L	0.41236|0.41236	1.265|1.265	0.34118|0.34118	D|D	0.663772|0.663772	.|B;B;B;B;B	.|0.14805	.|0.001;0.01;0.011;0.001;0.001	.|B;B;B;B;B	.|0.25759	.|0.002;0.063;0.022;0.002;0.005	T|T	0.31308|0.31308	-0.9948|-0.9948	5|9	.|.	.|.	.|.	.|.	7.9721|7.9721	0.30134|0.30134	0.793:0.1369:0.0701:0.0|0.793:0.1369:0.0701:0.0	.|.	.|280;280;139;280;280	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	K|K	280|280	.|ENSP00000342235:N280K;ENSP00000403204:N280K;ENSP00000385565:N280K	.|.	M|N	-|-	2|3	0|2	ERBB4|ERBB4	212295406|212295406	0.982000|0.982000	0.34865|0.34865	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	0.355000|0.355000	0.20163|0.20163	2.228000|2.228000	0.72767|0.72767	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		36	67	0	0	0	1	0	36	67				
PCDH10	57575	broad.mit.edu	37	4	134073258	134073258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:134073258G>T	ENST00000264360.5	+	1	2789	c.1963G>T	c.(1963-1965)Gag>Tag	p.E655*	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E655K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGGCCTTATGAGCTGGTGAT	0.692																																						ENST00000264360.4																			1	Substitution - Missense(1)	p.E655K(1)	lung(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1963-1965)Gag>Tag		protocadherin 10							19.0	23.0	22.0					4																	134073258		2188	4284	6472	SO:0001587	stop_gained	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073258G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1963G>T	4.37:g.134073258G>T	ENSP00000264360:p.Glu655*						p.E655*	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2789	+			655			Cadherin 6.		Q4W5F6|Q96SF0	Nonsense_Mutation	SNP	ENST00000264360.5	37	c.1963G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	47	13.129982	0.99721	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	.	.	.	4.47	4.47	0.54385	.	0.000000	0.43919	D	0.000509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	16.9329	0.86195	0.0:0.0:1.0:0.0	.	.	.	.	X	655	.	ENSP00000264360:E655X	E	+	1	0	PCDH10	134292708	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.741000	0.74837	2.310000	0.77875	0.655000	0.94253	GAG		0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	22	1	0	3.07112e-06	1	3.27933e-06	12	22				
MAP2	4133	broad.mit.edu	37	2	210543340	210543340	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:210543340G>T	ENST00000360351.4	+	5	813	c.307G>T	c.(307-309)Gta>Tta	p.V103L	MAP2_ENST00000392194.1_Missense_Mutation_p.V103L|MAP2_ENST00000361559.4_Missense_Mutation_p.V103L|MAP2_ENST00000199940.6_Missense_Mutation_p.V103L|MAP2_ENST00000447185.1_Missense_Mutation_p.V103L	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	103					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGCTGAGGCTGTAGCAGTCCT	0.413																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(307-309)Gta>Tta		microtubule-associated protein 2	Estramustine(DB01196)						118.0	112.0	114.0					2																	210543340		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210543340G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.307G>T	2.37:g.210543340G>T	ENSP00000353508:p.Val103Leu					MAP2_ENST00000392194.1_Missense_Mutation_p.V103L|MAP2_ENST00000447185.1_Missense_Mutation_p.V103L|MAP2_ENST00000199940.6_Missense_Mutation_p.V103L|MAP2_ENST00000361559.4_Missense_Mutation_p.V103L	p.V103L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	5	813	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	103					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.307G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084206	0.94100	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T;T	0.58652	1.99;0.32;1.99;1.99;1.99;1.99;1.99;1.99	5.06	5.06	0.68205	.	0.000000	0.48767	D	0.000172	T	0.64193	0.2576	N	0.24115	0.695	0.51233	D	0.999914	D;D;P;D;D;P	0.71674	0.998;0.99;0.946;0.984;0.998;0.817	D;D;D;D;D;B	0.81914	0.995;0.98;0.919;0.935;0.99;0.261	T	0.62421	-0.6858	10	0.28530	T	0.3	-15.7239	18.4525	0.90709	0.0:0.0:1.0:0.0	.	103;103;104;103;103;103	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	L	103;103;103;103;103;103;103;29	ENSP00000199940:V103L;ENSP00000376031:V103L;ENSP00000353508:V103L;ENSP00000355290:V103L;ENSP00000409969:V103L;ENSP00000376032:V103L;ENSP00000392164:V103L;ENSP00000388824:V29L	ENSP00000199940:V103L	V	+	1	0	MAP2	210251585	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.277000	0.89896	2.324000	0.78689	0.655000	0.94253	GTA		0.413	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		17	44	1	0	5.3912e-06	1	5.73242e-06	17	44				
RPL7A	6130	broad.mit.edu	37	9	136216806	136216806	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:136216806A>G	ENST00000323345.6	+	4	344	c.314A>G	c.(313-315)gAg>gGg	p.E105G	SNORD36B_ENST00000363961.1_RNA|SURF1_ENST00000495952.1_5'Flank|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000491289.1_5'Flank|SNORD24_ENST00000383884.1_RNA|SNORD36A_ENST00000362874.1_RNA|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Intron|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000371999.1_5'Flank|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000344469.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TACAGACCAGAGACAAAGCAA	0.517																																						ENST00000323345.6																			0				cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(313-315)gAg>gGg		ribosomal protein L7a							44.0	49.0	48.0					9																	136216806		2203	4297	6500	SO:0001583	missense	6130				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome	g.chr9:136216806A>G	BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.314A>G	9.37:g.136216806A>G	ENSP00000361076:p.Glu105Gly					RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_3'UTR	p.E105G	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)	4	344	+			105					P11518|Q5T8U4	Missense_Mutation	SNP	ENST00000323345.6	37	c.314A>G	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885521	0.51908	.	.	ENSG00000148303	ENST00000323345;ENST00000426651	T;T	0.63417	-0.04;0.57	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	H	0.98027	4.13	0.80722	D	1	P	0.34892	0.474	B	0.34991	0.193	T	0.82625	-0.0365	10	0.72032	D	0.01	.	13.5286	0.61609	1.0:0.0:0.0:0.0	.	105	P62424	RL7A_HUMAN	G	105;132	ENSP00000361076:E105G;ENSP00000416638:E132G	ENSP00000361076:E105G	E	+	2	0	RPL7A	135206627	1.000000	0.71417	0.990000	0.47175	0.288000	0.27193	8.434000	0.90294	1.791000	0.52520	0.482000	0.46254	GAG		0.517	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	NM_000972		45	31	0	0	0	1	0	45	31				
NUTM1	256646	broad.mit.edu	37	15	34640443	34640443	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:34640443G>T	ENST00000333756.4	+	2	445	c.290G>T	c.(289-291)gGg>gTg	p.G97V	NUTM1_ENST00000438749.3_Missense_Mutation_p.G115V|NUTM1_ENST00000537011.1_Missense_Mutation_p.G125V	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	97	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACAGAAGGGGGGTCAGCTGAG	0.587																																						ENST00000537011.1																			0											c.(373-375)gGg>gTg		NUT midline carcinoma, family member 1							64.0	62.0	63.0					15																	34640443		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640443G>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.290G>T	15.37:g.34640443G>T	ENSP00000329448:p.Gly97Val					NUTM1_ENST00000438749.3_Missense_Mutation_p.G115V|NUTM1_ENST00000333756.4_Missense_Mutation_p.G97V	p.G125V							3	756	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.374G>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347799	0.24426	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.26810	1.71;1.71;1.71	5.69	3.83	0.44106	Nuclear Testis  protein, N-terminal (1);	0.412768	0.21028	N	0.081385	T	0.46308	0.1386	M	0.77103	2.36	0.19945	N	0.999942	D;D;D	0.63880	0.993;0.992;0.993	D;D;D	0.68039	0.955;0.925;0.955	T	0.29822	-0.9999	10	0.66056	D	0.02	.	7.7819	0.29070	0.1825:0.0:0.8175:0.0	.	115;125;97	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	V	125;115;97;97	ENSP00000444896:G125V;ENSP00000407031:G115V;ENSP00000329448:G97V	ENSP00000329448:G97V	G	+	2	0	C15orf55	32427735	0.163000	0.22920	0.006000	0.13384	0.098000	0.18820	1.172000	0.31908	1.423000	0.47198	-0.136000	0.14681	GGG		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		32	43	1	0	9.65021e-13	1	1.11043e-12	32	43				
CCSER2	54462	broad.mit.edu	37	10	86130849	86130849	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:86130849A>C	ENST00000224756.8	+	2	226	c.41A>C	c.(40-42)aAg>aCg	p.K14T	CCSER2_ENST00000359979.4_Missense_Mutation_p.K14T|CCSER2_ENST00000372088.2_Missense_Mutation_p.K14T	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	14					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TTGGGTTCCAAGTTGCCAAAG	0.343																																						ENST00000224756.8																			0											c.(40-42)aAg>aCg		coiled-coil serine-rich protein 2							44.0	44.0	44.0					10																	86130849		2203	4299	6502	SO:0001583	missense	54462							g.chr10:86130849A>C		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.41A>C	10.37:g.86130849A>C	ENSP00000224756:p.Lys14Thr					CCSER2_ENST00000359979.4_Missense_Mutation_p.K14T|CCSER2_ENST00000372088.2_Missense_Mutation_p.K14T	p.K14T	NM_018999.2	NP_061872.2					2	226	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.41A>C	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140425	0.56936	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.54071	0.59;1.95;1.9	6.06	4.94	0.65067	.	0.085160	0.51477	D	0.000100	T	0.64692	0.2621	L	0.56769	1.78	0.80722	D	1	D;D;P	0.76494	0.999;0.989;0.675	D;P;P	0.67548	0.952;0.787;0.503	T	0.67150	-0.5743	10	0.72032	D	0.01	-14.0828	9.7292	0.40350	0.9201:0.0:0.0799:0.0	.	14;14;14	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	T	14	ENSP00000353068:K14T;ENSP00000224756:K14T;ENSP00000361160:K14T	ENSP00000224756:K14T	K	+	2	0	FAM190B	86120829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.134000	0.42102	2.315000	0.78130	0.533000	0.62120	AAG		0.343	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		14	47	0	0	0	1	0	14	47				
MPHOSPH8	54737	broad.mit.edu	37	13	20240584	20240584	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:20240584C>G	ENST00000361479.5	+	10	2107	c.2039C>G	c.(2038-2040)tCa>tGa	p.S680*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.S680*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	680					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGAGGAAATTCAGACATCGTA	0.438																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(2038-2040)tCa>tGa		M-phase phosphoprotein 8							172.0	149.0	157.0					13																	20240584		2203	4300	6503	SO:0001587	stop_gained	54737				cell cycle	cytoplasm|nucleus		g.chr13:20240584C>G	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2039C>G	13.37:g.20240584C>G	ENSP00000355388:p.Ser680*					MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.S680*	p.S680*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	10	2107	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	680					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Nonsense_Mutation	SNP	ENST00000361479.5	37	c.2039C>G	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033732	0.93575	.	.	ENSG00000196199	ENST00000414242;ENST00000360754;ENST00000361479	.	.	.	5.77	4.93	0.64822	.	0.263585	0.38326	N	0.001729	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4489	0.44509	0.1339:0.797:0.0:0.0691	.	.	.	.	X	680;9;680	.	ENSP00000353982:S9X	S	+	2	0	MPHOSPH8	19138584	0.999000	0.42202	0.526000	0.27913	0.056000	0.15407	4.348000	0.59379	1.438000	0.47492	0.557000	0.71058	TCA		0.438	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		26	135	0	0	0	1	0	26	135				
CLASP1	23332	broad.mit.edu	37	2	122144728	122144728	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:122144728G>A	ENST00000263710.4	-	32	3733	c.3344C>T	c.(3343-3345)aCc>aTc	p.T1115I	CLASP1_ENST00000409078.3_Missense_Mutation_p.T1087I|CLASP1_ENST00000545861.1_Missense_Mutation_p.T861I|CLASP1_ENST00000541859.1_Missense_Mutation_p.T871I|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1093I|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1094I|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1110I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1115					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGAACAGTTGGTGGGTGAGGT	0.527																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3343-3345)aCc>aTc		cytoplasmic linker associated protein 1							46.0	50.0	49.0					2																	122144728		1944	4127	6071	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122144728G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3344C>T	2.37:g.122144728G>A	ENSP00000263710:p.Thr1115Ile					CLASP1_ENST00000397587.3_Missense_Mutation_p.T1094I|CLASP1_ENST00000541859.1_Missense_Mutation_p.T871I|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1110I|CLASP1_ENST00000545861.1_Missense_Mutation_p.T861I|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1087I|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1093I	p.T1115I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			32	3733	-	Renal(3;0.0496)		1115					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3344C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.344968	0.95807	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.51574	1.99;2.02;1.99;2.01;0.7;2.0	6.04	6.04	0.98038	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	L	0.54323	1.7	0.80722	D	1	D;P;P;D	0.89917	0.999;0.846;0.761;1.0	D;P;P;D	0.83275	0.991;0.806;0.645;0.996	T	0.66846	-0.5820	10	0.87932	D	0	-21.624	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1087;1094;1095;1115	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	I	1115;1110;1094;1093;871;1087;861	ENSP00000263710:T1115I;ENSP00000389372:T1110I;ENSP00000380717:T1094I;ENSP00000441625:T1093I;ENSP00000441770:T871I;ENSP00000386442:T1087I	ENSP00000263710:T1115I	T	-	2	0	CLASP1	121861198	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.685000	0.98661	2.873000	0.98535	0.563000	0.77884	ACC		0.527	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		14	20	0	0	0	1	0	14	20				
ATP8A2	51761	broad.mit.edu	37	13	26114470	26114470	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:26114470A>G	ENST00000381655.2	+	8	737	c.595A>G	c.(595-597)Atg>Gtg	p.M199V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.M159V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	159					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACCTCAGGCAATGTGTTATGT	0.388																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(595-597)Atg>Gtg		ATPase, aminophospholipid transporter, class I, type 8A, member 2							144.0	132.0	136.0					13																	26114470		1870	4108	5978	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26114470A>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.595A>G	13.37:g.26114470A>G	ENSP00000371070:p.Met199Val					ATP8A2_ENST00000255283.8_Missense_Mutation_p.M159V	p.M199V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	8	737	+		Breast(139;0.0201)|Lung SC(185;0.0225)	159					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.595A>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807484	0.50421	.	.	ENSG00000132932	ENST00000381655;ENST00000255283	T;T	0.74315	-0.83;-0.83	5.91	5.91	0.95273	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	N	0.17872	0.535	0.80722	D	1	B;B;B	0.26672	0.156;0.128;0.156	B;B;B	0.33121	0.1;0.098;0.158	T	0.66472	-0.5915	10	0.72032	D	0.01	.	16.0221	0.80506	1.0:0.0:0.0:0.0	.	159;159;159	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	V	199;159	ENSP00000371070:M199V;ENSP00000255283:M159V	ENSP00000255283:M159V	M	+	1	0	ATP8A2	25012470	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.038000	0.93771	2.273000	0.75805	0.523000	0.50628	ATG		0.388	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		15	78	0	0	0	1	0	15	78				
USP12	219333	broad.mit.edu	37	13	27669839	27669839	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:27669839T>C	ENST00000282344.6	-	4	728	c.472A>G	c.(472-474)Att>Gtt	p.I158V		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	158	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCATTATCAATATTACCATTA	0.333																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(472-474)Att>Gtt		ubiquitin specific peptidase 12							102.0	96.0	98.0					13																	27669839		2203	4295	6498	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27669839T>C	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.472A>G	13.37:g.27669839T>C	ENSP00000282344:p.Ile158Val						p.I158V	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	4	728	-		Lung SC(185;0.0161)	158					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.472A>G	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	T	0.073	-1.199392	0.01581	.	.	ENSG00000152484	ENST00000282344	T	0.29917	1.55	5.54	1.46	0.22682	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.845943	0.10863	N	0.625883	T	0.14184	0.0343	N	0.10916	0.065	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.33471	-0.9867	10	0.18276	T	0.48	-5.5481	6.0595	0.19830	0.0:0.1422:0.2544:0.6034	.	158	O75317	UBP12_HUMAN	V	158	ENSP00000282344:I158V	ENSP00000282344:I158V	I	-	1	0	USP12	26567839	0.939000	0.31865	0.001000	0.08648	0.934000	0.57294	1.106000	0.31098	0.460000	0.27045	0.533000	0.62120	ATT		0.333	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		7	45	0	0	0	1	0	7	45				
EIF5B	9669	broad.mit.edu	37	2	99976938	99976938	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:99976938A>G	ENST00000289371.6	+	3	374	c.172A>G	c.(172-174)Atc>Gtc	p.I58V		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGAAGATGATATCCTGAAAGA	0.333																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(172-174)Atc>Gtc		eukaryotic translation initiation factor 5B							73.0	70.0	71.0					2																	99976938		1831	4085	5916	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99976938A>G	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.172A>G	2.37:g.99976938A>G	ENSP00000289371:p.Ile58Val						p.I58V	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			3	374	+			58					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.172A>G	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.240897	0.58995	.	.	ENSG00000158417	ENST00000289371	T	0.49720	0.77	5.17	5.17	0.71159	.	.	.	.	.	T	0.45316	0.1336	M	0.63428	1.95	0.80722	D	1	B	0.25312	0.123	B	0.21360	0.034	T	0.36696	-0.9737	8	.	.	.	-10.0088	14.4786	0.67564	1.0:0.0:0.0:0.0	.	58	O60841	IF2P_HUMAN	V	58	ENSP00000289371:I58V	.	I	+	1	0	EIF5B	99343370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.488000	0.90458	2.072000	0.62099	0.533000	0.62120	ATC		0.333	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		5	43	0	0	0	1	0	5	43				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	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.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	183	0	0	0	1	0	5	183				
RAB36	9609	broad.mit.edu	37	22	23487587	23487587	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:23487587G>T	ENST00000263116.2	+	1	75	c.35G>T	c.(34-36)cGc>cTc	p.R12L	RAB36_ENST00000341989.4_Missense_Mutation_p.R12L|RTDR1_ENST00000406876.1_5'Flank	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	12					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ATGCTTGGACGCGCCGCTGCC	0.667																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(34-36)cGc>cTc		RAB36, member RAS oncogene family							51.0	57.0	55.0					22																	23487587		2203	4298	6501	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23487587G>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.35G>T	22.37:g.23487587G>T	ENSP00000263116:p.Arg12Leu					RAB36_ENST00000341989.4_Missense_Mutation_p.R12L	p.R12L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	1	75	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		12					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.35G>T	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003099	0.54254	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.66815	-0.23;0.19	3.51	-3.04	0.05412	.	2.964260	0.01607	N	0.022344	T	0.43545	0.1252	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32481	-0.9905	10	0.87932	D	0	0.6754	2.8375	0.05519	0.1441:0.0997:0.4695:0.2867	.	12;12	O95755-2;O95755	.;RAB36_HUMAN	L	12	ENSP00000263116:R12L;ENSP00000343494:R12L	ENSP00000263116:R12L	R	+	2	0	RAB36	21817587	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.788000	0.04614	-0.747000	0.04759	-1.067000	0.02272	CGC		0.667	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		27	86	1	0	8.58068e-18	1	1.03461e-17	27	86				
DSEL	92126	broad.mit.edu	37	18	65178364	65178364	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:65178364G>T	ENST00000310045.7	-	2	4985	c.3512C>A	c.(3511-3513)aCc>aAc	p.T1171N	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1161					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTTTGTAGAGGTGGCAAACAA	0.343																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3511-3513)aCc>aAc		dermatan sulfate epimerase-like							84.0	82.0	82.0					18																	65178364		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178364G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3512C>A	18.37:g.65178364G>T	ENSP00000310565:p.Thr1171Asn					CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	p.T1171N	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4985	-		Esophageal squamous(42;0.129)	1161					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3512C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656095	0.67586	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.82893	-1.66	4.7	4.7	0.59300	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.86477	0.5942	L	0.54323	1.7	0.46564	D	0.999108	D	0.58620	0.983	P	0.58013	0.831	D	0.87793	0.2620	10	0.72032	D	0.01	-13.9206	13.7057	0.62636	0.0:0.1546:0.8454:0.0	.	1161	Q8IZU8	DSEL_HUMAN	N	1171;1161	ENSP00000310565:T1171N	ENSP00000310565:T1171N	T	-	2	0	DSEL	63329344	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.704000	0.84595	2.309000	0.77851	0.563000	0.77884	ACC		0.343	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		20	61	1	0	1.2644e-06	1	1.35587e-06	20	61				
ABCA2	20	broad.mit.edu	37	9	139904328	139904328	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:139904328C>T	ENST00000371605.3	-	42	6667	c.6520G>A	c.(6520-6522)Gag>Aag	p.E2174K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E2175K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E2175K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2174	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGGTCAGCTCCAGCTTCTCC	0.647																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6523-6525)Gag>Aag		ATP-binding cassette, sub-family A (ABC1), member 2							45.0	54.0	51.0					9																	139904328		2197	4297	6494	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904328C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6520G>A	9.37:g.139904328C>T	ENSP00000360666:p.Glu2174Lys					ABCA2_ENST00000371605.3_Missense_Mutation_p.E2174K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E2175K	p.E2175K			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	43	6670	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2174			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6523G>A		.	.	.	.	.	.	.	.	.	.	C	26.8	4.775213	0.90108	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000398210;ENST00000355090;ENST00000341511	D;D;D	0.93906	-3.31;-3.31;-3.31	3.52	3.52	0.40303	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.205335	0.40469	U	0.001096	D	0.93677	0.7980	N	0.25957	0.775	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.94368	0.7593	10	0.56958	D	0.05	.	15.5878	0.76499	0.0:1.0:0.0:0.0	.	2174;2205	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	K	2175;2174;76;2205;2175	ENSP00000265662:E2175K;ENSP00000360666:E2174K;ENSP00000344155:E2175K	ENSP00000265662:E2175K	E	-	1	0	ABCA2	139024149	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.313000	0.65798	1.983000	0.57843	0.491000	0.48974	GAG		0.647	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		4	15	0	0	0	1	0	4	15				
SYNE1	23345	broad.mit.edu	37	6	152655242	152655242	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:152655242C>T	ENST00000367255.5	-	77	13296	c.12695G>A	c.(12694-12696)aGg>aAg	p.R4232K	SYNE1_ENST00000423061.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4097K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4232K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4232					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCTCTTCCCTTTGCAAGCA	0.398										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12694-12696)aGg>aAg		spectrin repeat containing, nuclear envelope 1							221.0	200.0	207.0					6																	152655242		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152655242C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12695G>A	6.37:g.152655242C>T	ENSP00000356224:p.Arg4232Lys	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4232K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4161K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4097K	p.R4232K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	77	13296	-		Ovarian(120;0.0955)	4232					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12695G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919821	0.73098	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000002	T	0.32346	0.0826	L	0.55103	1.725	0.80722	D	1	P;P;D	0.52996	0.929;0.929;0.957	B;B;P	0.48166	0.365;0.365;0.569	T	0.01945	-1.1242	10	0.21014	T	0.42	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	4232;4232;4161	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	4232;4161;4232;4161;4097	ENSP00000356224:R4232K;ENSP00000396024:R4161K;ENSP00000265368:R4232K;ENSP00000390975:R4161K;ENSP00000341887:R4097K	ENSP00000265368:R4232K	R	-	2	0	SYNE1	152696935	1.000000	0.71417	0.988000	0.46212	0.897000	0.52465	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	AGG		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		79	171	0	0	0	1	0	79	171				
SLC41A2	84102	broad.mit.edu	37	12	105255129	105255129	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:105255129C>T	ENST00000258538.3	-	7	1322	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	399					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ACAGTTGTGTCCAGAATAAGG	0.353																																					Esophageal Squamous(195;176 2919 4272 35572)	ENST00000258538.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						c.(1195-1197)Gac>Aac		solute carrier family 41 (magnesium transporter), member 2							58.0	54.0	56.0					12																	105255129		2203	4300	6503	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105255129C>T	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1195G>A	12.37:g.105255129C>T	ENSP00000258538:p.Asp399Asn						p.D399N	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN			7	1322	-			399					Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.1195G>A	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	C	32	5.118995	0.94385	.	.	ENSG00000136052	ENST00000258538	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.52094	-0.8621	10	0.39692	T	0.17	-2.9911	20.8794	0.99867	0.0:1.0:0.0:0.0	.	399	Q96JW4	S41A2_HUMAN	N	399	ENSP00000258538:D399N	ENSP00000258538:D399N	D	-	1	0	SLC41A2	103779259	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.315000	0.78998	2.941000	0.99782	0.655000	0.94253	GAC		0.353	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		4	71	0	0	0	1	0	4	71				
CSMD2	114784	broad.mit.edu	37	1	34083115	34083115	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:34083115G>A	ENST00000373380.1	-	17	2769	c.2549C>T	c.(2548-2550)cCg>cTg	p.P850L	CSMD2_ENST00000373381.4_Missense_Mutation_p.P1977L|CSMD2_ENST00000373388.2_Missense_Mutation_p.P76L|CSMD2_ENST00000373377.1_Missense_Mutation_p.P76L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1937	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCATATCCCGGCTCACACTG	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5929-5931)cCg>cTg		CUB and Sushi multiple domains 2							109.0	83.0	92.0					1																	34083115		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34083115G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2549C>T	1.37:g.34083115G>A	ENSP00000362478:p.Pro850Leu					CSMD2_ENST00000373380.1_Missense_Mutation_p.P850L|CSMD2_ENST00000373377.1_Missense_Mutation_p.P76L|CSMD2_ENST00000373388.2_Missense_Mutation_p.P76L	p.P1977L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			38	6106	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1937			CUB 12.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5930C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.099827	0.94197	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81872	-0.0733	10	0.66056	D	0.02	.	18.3393	0.90299	0.0:0.0:1.0:0.0	.	850;1937;1977	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	1977;850;76;76	ENSP00000362479:P1977L;ENSP00000362478:P850L;ENSP00000362475:P76L;ENSP00000362486:P76L	ENSP00000241312:P1937L	P	-	2	0	CSMD2	33855702	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	9.809000	0.99208	2.676000	0.91093	0.655000	0.94253	CCG		0.582	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		11	25	0	0	0	1	0	11	25				
CEP350	9857	broad.mit.edu	37	1	179985006	179985006	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:179985006C>G	ENST00000367607.3	+	11	2493	c.2075C>G	c.(2074-2076)tCt>tGt	p.S692C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	692					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATCAGCCATCTGGAGAATCT	0.428																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(2074-2076)tCt>tGt		centrosomal protein 350kDa							74.0	64.0	67.0					1																	179985006		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179985006C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2075C>G	1.37:g.179985006C>G	ENSP00000356579:p.Ser692Cys						p.S692C	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			11	2493	+			692					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2075C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714471	0.89112	.	.	ENSG00000135837	ENST00000367607	T	0.17054	2.3	5.57	5.57	0.84162	.	0.000000	0.45606	D	0.000343	T	0.34019	0.0883	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.993;0.998	T	0.01074	-1.1460	9	.	.	.	.	19.149	0.93481	0.0:1.0:0.0:0.0	.	692;692	E7EU22;Q5VT06	.;CE350_HUMAN	C	692	ENSP00000356579:S692C	.	S	+	2	0	CEP350	178251629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.627000	0.74258	2.633000	0.89246	0.563000	0.77884	TCT		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		10	24	0	0	0	1	0	10	24				
LOC339874	339874	broad.mit.edu	37	3	131081077	131081077	+	RNA	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:131081077G>T	ENST00000502521.1	-	0	239				NUDT16P_ENST00000499077.2_RNA|RP11-933H2.4_ENST00000513905.1_RNA	NR_038976.1																						TCGCAAGACAGCAGCCTGGAG	0.667																																						ENST00000502521.1																			0																																																			339874							g.chr3:131081077G>T																													3.37:g.131081077G>T						NUDT16P_ENST00000499077.2_RNA		NR_038976.1						0	239	-									RNA	SNP	ENST00000502521.1	37																																																																																						0.667	RP11-933H2.4-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000356585.3			7	7	1	0	8.12818e-05	1	8.53459e-05	7	7				
MUC16	94025	broad.mit.edu	37	19	9085048	9085048	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:9085048G>T	ENST00000397910.4	-	1	6970	c.6767C>A	c.(6766-6768)cCt>cAt	p.P2256H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2256	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAGTATCAGGGGAGGGGGA	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6766-6768)cCt>cAt		mucin 16, cell surface associated							75.0	72.0	73.0					19																	9085048		1938	4135	6073	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085048G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6767C>A	19.37:g.9085048G>T	ENSP00000381008:p.Pro2256His						p.P2256H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6970	-			2256			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6767C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.239	-1.015131	0.02078	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	0.225	0.225	0.15325	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.72982	0.979	T	0.41360	-0.9513	7	0.87932	D	0	.	.	.	.	.	2256	B5ME49	.	H	2256	ENSP00000381008:P2256H	ENSP00000381008:P2256H	P	-	2	0	MUC16	8946048	0.019000	0.18553	0.007000	0.13788	0.007000	0.05969	0.792000	0.26929	0.300000	0.22699	0.305000	0.20034	CCT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	33	1	0	0.00116845	1	0.00120183	6	33				
CDH9	1007	broad.mit.edu	37	5	26881714	26881714	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:26881714G>C	ENST00000231021.4	-	12	2073	c.1901C>G	c.(1900-1902)gCt>gGt	p.A634G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	634					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCAATGCAGCAAACAACAC	0.388																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1900-1902)gCt>gGt		cadherin 9, type 2 (T1-cadherin)							46.0	50.0	49.0					5																	26881714		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881714G>C	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1901C>G	5.37:g.26881714G>C	ENSP00000231021:p.Ala634Gly						p.A634G	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2073	-			634					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1901C>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682163	0.29872	.	.	ENSG00000113100	ENST00000231021	T	0.57436	0.4	4.96	4.96	0.65561	.	0.098886	0.64402	D	0.000001	T	0.58163	0.2103	M	0.77486	2.375	0.45979	D	0.998793	B;B	0.19445	0.036;0.0	B;B	0.28991	0.097;0.001	T	0.56703	-0.7935	9	.	.	.	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	227;634	B4DFP0;Q9ULB4	.;CADH9_HUMAN	G	634	ENSP00000231021:A634G	.	A	-	2	0	CDH9	26917471	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	5.531000	0.67148	2.447000	0.82792	0.557000	0.71058	GCT		0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		16	85	0	0	0	1	0	16	85				
DSEL	92126	broad.mit.edu	37	18	65178269	65178269	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr18:65178269G>T	ENST00000310045.7	-	2	5080	c.3607C>A	c.(3607-3609)Cta>Ata	p.L1203I	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1193					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTCAATTAGTTTAATTTCA	0.373																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3607-3609)Cta>Ata		dermatan sulfate epimerase-like							107.0	104.0	105.0					18																	65178269		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178269G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3607C>A	18.37:g.65178269G>T	ENSP00000310565:p.Leu1203Ile					CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	p.L1203I	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	5080	-		Esophageal squamous(42;0.129)	1193					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3607C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159536	0.38119	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.81996	-1.56	5.44	-6.13	0.02118	Sulfotransferase domain (1);	0.100908	0.41500	U	0.000873	T	0.71617	0.3361	M	0.65498	2.005	0.22240	N	0.999268	P	0.45176	0.852	B	0.41666	0.363	T	0.64457	-0.6403	10	0.56958	D	0.05	-3.0595	0.7856	0.01048	0.281:0.2753:0.2563:0.1874	.	1193	Q8IZU8	DSEL_HUMAN	I	1203;1193	ENSP00000310565:L1203I	ENSP00000310565:L1203I	L	-	1	2	DSEL	63329249	0.981000	0.34729	0.433000	0.26760	0.960000	0.62799	0.323000	0.19593	-1.139000	0.02881	-0.961000	0.02630	CTA		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		28	71	1	0	3.65163e-15	1	4.34061e-15	28	71				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	82	0	0	0	1	0	6	82				
WAC	51322	broad.mit.edu	37	10	28905264	28905264	+	Silent	SNP	A	A	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:28905264A>T	ENST00000354911.4	+	12	1880	c.1719A>T	c.(1717-1719)ggA>ggT	p.G573G	WAC_ENST00000347934.4_Silent_p.G470G|WAC_ENST00000375646.1_Silent_p.G421G|WAC_ENST00000375664.4_Silent_p.G528G	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	573					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACGTTCAAGGATGGCCTGCAG	0.413																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1582-1584)ggA>ggT		WW domain containing adaptor with coiled-coil							91.0	79.0	83.0					10																	28905264		2203	4300	6503	SO:0001819	synonymous_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28905264A>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1719A>T	10.37:g.28905264A>T						WAC_ENST00000375646.1_Silent_p.G421G|WAC_ENST00000347934.4_Silent_p.G470G|WAC_ENST00000354911.4_Silent_p.G573G	p.G528G			Q9BTA9	WAC_HUMAN			12	2193	+			573					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	c.1584A>T	CCDS7159.1																																																																																				0.413	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		20	66	0	0	0	1	0	20	66				
HERC2P3	283755	broad.mit.edu	37	15	20588475	20588475	+	RNA	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:20588475C>G	ENST00000428453.1	-	0	4275							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGCAGTGTCCCCAGGACACC	0.488																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														283755							g.chr15:20588475C>G	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588475C>G														0	4275	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.488	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	40	0	0	0	1	0	5	40				
ABCE1	6059	broad.mit.edu	37	4	146044652	146044652	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:146044652A>G	ENST00000296577.4	+	16	2055	c.1540A>G	c.(1540-1542)Aca>Gca	p.T514A	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	514	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGCAAAAAAGACAGCCTTTGT	0.373																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(1540-1542)Aca>Gca		ATP-binding cassette, sub-family E (OABP), member 1							80.0	77.0	78.0					4																	146044652		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146044652A>G	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1540A>G	4.37:g.146044652A>G	ENSP00000296577:p.Thr514Ala					OTUD4_ENST00000455611.2_Intron	p.T514A	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			16	2055	+	all_hematologic(180;0.151)		514			ABC transporter 2.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.1540A>G	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345784	0.41599	.	.	ENSG00000164163	ENST00000296577	D	0.88201	-2.35	5.69	4.51	0.55191	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	L	0.47078	1.49	0.80722	D	1	B	0.19200	0.034	B	0.24006	0.05	T	0.79985	-0.1572	10	0.32370	T	0.25	-16.0832	13.3925	0.60832	0.8685:0.1315:0.0:0.0	.	514	P61221	ABCE1_HUMAN	A	514	ENSP00000296577:T514A	ENSP00000296577:T514A	T	+	1	0	ABCE1	146264102	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.339000	0.96797	1.091000	0.41335	-0.257000	0.10917	ACA		0.373	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		20	48	0	0	0	1	0	20	48				
DNAH9	1770	broad.mit.edu	37	17	11592934	11592934	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:11592934C>A	ENST00000262442.4	+	20	3863	c.3795C>A	c.(3793-3795)atC>atA	p.I1265I	DNAH9_ENST00000454412.2_Silent_p.I1265I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1265	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCGAGATCCAGCAGATGG	0.498																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3793-3795)atC>atA		dynein, axonemal, heavy chain 9							118.0	109.0	112.0					17																	11592934		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11592934C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3795C>A	17.37:g.11592934C>A						DNAH9_ENST00000454412.2_Silent_p.I1265I	p.I1265I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	3863	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1265			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.3795C>A	CCDS11160.1																																																																																				0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		53	100	1	0	5.57489e-27	1	6.85304e-27	53	100				
RPS10	6204	broad.mit.edu	37	6	34392518	34392518	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:34392518G>A	ENST00000326199.8	-	3	343	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.H84Y|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.H84Y	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	84					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						GGGGGCAGATGAAGGTAATCA	0.547																																					Colon(121;749 1624 4895 8687 22360)	ENST00000605528.1																			0											c.(250-252)Cat>Tat									28.0	29.0	28.0					6																	34392518		2202	4295	6497	SO:0001583	missense	100529239							g.chr6:34392518G>A	U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.250C>T	6.37:g.34392518G>A	ENSP00000347271:p.His84Tyr					RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000326199.8_Missense_Mutation_p.H84Y|RPS10_ENST00000344700.3_Missense_Mutation_p.H84Y	p.H84Y	NM_001202470.2	NP_001189399.1					3	266	-								B2R4E3|Q5TZC0	Missense_Mutation	SNP	ENST00000326199.8	37	c.250C>T	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163740	0.78226	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.79033	-1.2;-1.23	5.19	5.19	0.71726	Plectin/S10, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.89785	3.06	0.80722	D	1	B	0.32467	0.372	B	0.39094	0.29	D	0.84491	0.0611	10	0.66056	D	0.02	-21.1753	18.7885	0.91964	0.0:0.0:1.0:0.0	.	84	P46783	RS10_HUMAN	Y	84	ENSP00000347271:H84Y;ENSP00000363169:H84Y	ENSP00000347271:H84Y	H	-	1	0	RPS10	34500496	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.754000	0.98908	2.446000	0.82766	0.485000	0.47835	CAT		0.547	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			10	32	0	0	0	1	0	10	32				
OR4A16	81327	broad.mit.edu	37	11	55111056	55111056	+	Missense_Mutation	SNP	C	C	T	rs144905099		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:55111056C>T	ENST00000314721.2	+	1	430	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127Q(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCTCTAAGCCGCTGCACTAT	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21546	0.0		0.0	False		,,,				2504	0.0					ENST00000314721.2																			1	Substitution - Missense(1)	p.P127Q(1)	lung(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(379-381)cCg>cTg		olfactory receptor, family 4, subfamily A, member 16		C	LEU/PRO	0,4402		0,0,2201	181.0	166.0	171.0		380	1.8	1.0	11	dbSNP_134	171	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR4A16	NM_001005274.1	98	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	127/329	55111056	2,12992	2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111056C>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.380C>T	11.37:g.55111056C>T	ENSP00000325128:p.Pro127Leu						p.P127L	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	430	+			127					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.380C>T	CCDS31499.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	12.95	2.090044	0.36855	0.0	2.33E-4	ENSG00000181961	ENST00000314721	T	0.01902	4.57	2.69	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.13841	0.0335	H	0.95004	3.61	0.43137	D	0.994889	D	0.76494	0.999	D	0.65443	0.935	T	0.00472	-1.1719	9	0.87932	D	0	.	7.2227	0.25997	0.0:0.8562:0.0:0.1437	.	127	Q8NH70	O4A16_HUMAN	L	127	ENSP00000325128:P127L	ENSP00000325128:P127L	P	+	2	0	OR4A16	54867632	0.998000	0.40836	0.996000	0.52242	0.205000	0.24178	4.671000	0.61590	0.463000	0.27118	0.423000	0.28283	CCG		0.468	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		60	131	0	0	0	1	0	60	131				
KDM6A	7403	broad.mit.edu	37	X	44945195	44945195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:44945195C>A	ENST00000377967.4	+	24	3560	c.3519C>A	c.(3517-3519)taC>taA	p.Y1173*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Y1180*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Y1094*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Y1128*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1173	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTGAAGGTTACTGGGGTGTTC	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3517-3519)taC>taA		lysine (K)-specific demethylase 6A							178.0	149.0	159.0					X																	44945195		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44945195C>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3519C>A	X.37:g.44945195C>A	ENSP00000367203:p.Tyr1173*					KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Y1180*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Y1094*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Y1128*	p.Y1173*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			24	3560	+			1173			JmjC.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3519C>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.205105|7.205105	0.98132|0.98132	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|.	.|.	.|.	5.37|5.37	4.51|4.51	0.55191|0.55191	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.25457|.	0.0619|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30563|.	-0.9974|.	3|.	.|0.02654	.|T	.|1	-9.8669|-9.8669	10.3811|10.3811	0.44113|0.44113	0.0:0.8248:0.0:0.1752|0.0:0.8248:0.0:0.1752	.|.	.|.	.|.	.|.	M|X	771;816|870;1173;1128;1180;1094	.|.	.|ENSP00000334340:Y870X	L|Y	+|+	1|3	2|2	KDM6A|KDM6A	44830139|44830139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.926000|1.926000	0.40084|0.40084	1.155000|1.155000	0.42497|0.42497	0.600000|0.600000	0.82982|0.82982	CTG|TAC		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		35	31	1	0	9.45814e-24	1	1.15702e-23	35	31				
RARB	5915	broad.mit.edu	37	3	25611300	25611300	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:25611300G>A	ENST00000404969.1	+	4	521	c.521G>A	c.(520-522)tGc>tAc	p.C174Y	RARB_ENST00000437042.2_Missense_Mutation_p.C55Y|RARB_ENST00000330688.4_Missense_Mutation_p.C167Y|RARB_ENST00000458646.1_Missense_Mutation_p.C55Y|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	174	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAGCAAGAATGCACAGAGAGC	0.498																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(499-501)tGc>tAc		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						125.0	120.0	121.0					3																	25611300		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611300G>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.521G>A	3.37:g.25611300G>A	ENSP00000385865:p.Cys174Tyr					RARB_ENST00000404969.1_Missense_Mutation_p.C174Y|RARB_ENST00000458646.1_Missense_Mutation_p.C55Y|RARB_ENST00000437042.2_Missense_Mutation_p.C55Y|RARB_ENST00000462272.1_3'UTR	p.C167Y	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			4	921	+			174			Hinge.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.500G>A		.	.	.	.	.	.	.	.	.	.	G	3.496	-0.102788	0.06967	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	4.57	3.62	0.41486	Nuclear hormone receptor, ligand-binding (2);	0.313778	0.35013	N	0.003505	T	0.36248	0.0960	M	0.73598	2.24	0.34539	D	0.710033	B;B	0.29909	0.261;0.186	B;B	0.38880	0.284;0.212	T	0.36163	-0.9759	10	0.02654	T	1	.	9.1537	0.36978	0.0:0.1434:0.6362:0.2204	.	174;167	P10826;F1D8S6	RARB_HUMAN;.	Y	174;174;174;55;167;55	ENSP00000373282:C174Y;ENSP00000385865:C174Y;ENSP00000398840:C55Y;ENSP00000332296:C167Y;ENSP00000391391:C55Y	ENSP00000332296:C167Y	C	+	2	0	RARB	25586304	0.998000	0.40836	0.996000	0.52242	0.986000	0.74619	1.719000	0.38011	2.530000	0.85305	0.561000	0.74099	TGC		0.498	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		5	53	0	0	0	1	0	5	53				
HTT	3064	broad.mit.edu	37	4	3225279	3225279	+	Silent	SNP	C	C	T	rs371891121		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr4:3225279C>T	ENST00000355072.5	+	55	7762	c.7617C>T	c.(7615-7617)ctC>ctT	p.L2539L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2539					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAAAGCTCTCGACACCAGGT	0.602																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7615-7617)ctC>ctT		huntingtin		C		1,4015		0,1,2007	54.0	60.0	58.0		7617	-10.6	0.0	4		58	0,8350		0,0,4175	no	coding-synonymous	HTT	NM_002111.6		0,1,6182	TT,TC,CC		0.0,0.0249,0.0081		2539/3143	3225279	1,12365	2008	4175	6183	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3225279C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7617C>T	4.37:g.3225279C>T							p.L2539L	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	55	7762	+		all_epithelial(65;0.18)	2539					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.7617C>T	CCDS43206.1																																																																																				0.602	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		7	43	0	0	0	1	0	7	43				
C19orf53	28974	broad.mit.edu	37	19	13883052	13883052	+	5'Flank	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:13883052C>T	ENST00000588234.1	+	0	0				CTB-5E10.3_ENST00000586894.1_RNA|CTB-5E10.3_ENST00000586297.1_RNA|CTB-5E10.3_ENST00000591826.1_RNA|C19orf53_ENST00000593274.1_5'Flank|MRI1_ENST00000319545.8_Missense_Mutation_p.T309I|MRI1_ENST00000040663.6_Missense_Mutation_p.T356I	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53											breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CTAACCACCACCATCTCTTCC	0.547																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(925-927)aCc>aTc		methylthioribose-1-phosphate isomerase 1							82.0	80.0	81.0					19																	13883052		2203	4300	6503	SO:0001631	upstream_gene_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13883052C>T	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13883052C>T	Exception_encountered					CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Missense_Mutation_p.T356I	p.T309I	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN			6	983	+			356					B2R4J9	Missense_Mutation	SNP	ENST00000588234.1	37	c.926C>T	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	C	7.295	0.611848	0.14066	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	D;D	0.89485	-2.52;-2.43	4.36	0.79	0.18613	.	0.448028	0.20590	N	0.089369	T	0.69378	0.3104	N	0.08118	0	0.09310	N	1	B;B	0.22746	0.074;0.001	B;B	0.17979	0.02;0.0	T	0.54316	-0.8312	10	0.15499	T	0.54	-29.6147	2.7629	0.05312	0.1758:0.3791:0.3416:0.1034	.	309;356	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	I	356;309	ENSP00000040663:T356I;ENSP00000314871:T309I	ENSP00000040663:T356I	T	+	2	0	MRI1	13744052	0.000000	0.05858	0.003000	0.11579	0.631000	0.37964	0.380000	0.20602	0.958000	0.37956	0.485000	0.47835	ACC		0.547	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1	NM_014047		19	37	0	0	0	1	0	19	37				
TMCO3	55002	broad.mit.edu	37	13	114152668	114152668	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr13:114152668A>C	ENST00000434316.2	+	3	815	c.456A>C	c.(454-456)gaA>gaC	p.E152D	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E152D	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	152						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AAGAAACAGAATATATGGAAC	0.333																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(454-456)gaA>gaC		transmembrane and coiled-coil domains 3							73.0	76.0	75.0					13																	114152668		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114152668A>C	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.456A>C	13.37:g.114152668A>C	ENSP00000389399:p.Glu152Asp					TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E152D	p.E152D	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		3	815	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	152					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.456A>C	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551217	0.45383	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.36878	1.23	5.22	-9.43	0.00607	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	M	0.71581	2.175	0.40022	D	0.975424	D;D	0.71674	0.996;0.998	P;D	0.65987	0.831;0.94	T	0.73668	-0.3910	10	0.59425	D	0.04	-7.1314	16.4703	0.84109	0.461:0.0:0.539:0.0	.	152;152	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	D	152	ENSP00000389399:E152D	ENSP00000364540:E152D	E	+	3	2	TMCO3	113200669	0.782000	0.28689	0.053000	0.19242	0.262000	0.26303	-0.070000	0.11523	-1.886000	0.01116	-1.361000	0.01213	GAA		0.333	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		18	39	0	0	0	1	0	18	39				
OR4C13	283092	broad.mit.edu	37	11	49974454	49974454	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:49974454C>A	ENST00000555099.1	+	1	512	c.480C>A	c.(478-480)ttC>ttA	p.F160L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGATCCTCTTCATCTGTCAAT	0.443																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(478-480)ttC>ttA		olfactory receptor, family 4, subfamily C, member 13							208.0	176.0	187.0					11																	49974454		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974454C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.480C>A	11.37:g.49974454C>A	ENSP00000452277:p.Phe160Leu						p.F160L	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	512	+			160					A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.480C>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	2.937	-0.219655	0.06061	.	.	ENSG00000258817	ENST00000555099	T	0.00048	8.82	2.91	0.911	0.19343	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000163	T	0.00109	0.0003	N	0.17764	0.52	0.09310	N	1	B	0.19331	0.035	B	0.33690	0.168	T	0.14117	-1.0484	9	.	.	.	.	3.1143	0.06369	0.0:0.475:0.231:0.294	.	160	Q8NGP0	OR4CD_HUMAN	L	160	ENSP00000452277:F160L	.	F	+	3	2	OR4C13	49931030	0.000000	0.05858	0.432000	0.26747	0.129000	0.20672	-4.294000	0.00258	0.095000	0.17434	0.186000	0.17326	TTC		0.443	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		47	97	1	0	4.44401e-20	1	5.4101e-20	47	97				
KRTAP5-11	440051	broad.mit.edu	37	11	71293728	71293728	+	Silent	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:71293728A>G	ENST00000398530.1	-	1	193	c.156T>C	c.(154-156)tgT>tgC	p.C52C	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	52	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGGAGCAGGAACAGGCTGGCA	0.652																																						ENST00000398530.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(154-156)tgT>tgC		keratin associated protein 5-11							99.0	120.0	113.0					11																	71293728		2200	4293	6493	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293728A>G	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.156T>C	11.37:g.71293728A>G						AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.C52C	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	193	-			52			6 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000398530.1	37	c.156T>C	CCDS41685.1																																																																																				0.652	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		66	372	0	0	0	1	0	66	372				
MAGEB1	4112	broad.mit.edu	37	X	30268814	30268814	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:30268814C>A	ENST00000378981.3	+	4	525	c.204C>A	c.(202-204)acC>acA	p.T68T	MAGEB1_ENST00000397548.2_Silent_p.T68T|MAGEB1_ENST00000397550.1_Silent_p.T68T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	68										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CACCCACCACCACTGCTGCTG	0.562																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(202-204)acC>acA		melanoma antigen family B, 1							39.0	30.0	33.0					X																	30268814		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30268814C>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.204C>A	X.37:g.30268814C>A						MAGEB1_ENST00000397548.2_Silent_p.T68T|MAGEB1_ENST00000397550.1_Silent_p.T68T	p.T68T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	525	+			68					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.204C>A	CCDS14222.1																																																																																				0.562	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		3	8	1	0	1	1	1	3	8				
PCDH11X	27328	broad.mit.edu	37	X	91642806	91642806	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:91642806C>A	ENST00000373094.1	+	5	4062	c.3217C>A	c.(3217-3219)Cat>Aat	p.H1073N	PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1036N|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1063N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1036N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1063N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1073N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1073					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGGGAGACCATGATGCAGG	0.542																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3217-3219)Cat>Aat		protocadherin 11 X-linked							142.0	110.0	120.0					X																	91642806		2201	4298	6499	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91642806C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3217C>A	X.37:g.91642806C>A	ENSP00000362186:p.His1073Asn					PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1036N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1063N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1036N|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1063N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1073N	p.H1073N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			5	4062	+			1073					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3217C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	7.581	0.668769	0.14776	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.54071	0.62;0.67;0.59;0.64;0.7;0.59	3.56	2.59	0.31030	.	0.481828	0.15625	U	0.252664	T	0.42854	0.1221	L	0.43152	1.355	0.21184	N	0.999767	B;B;B;B;B	0.28400	0.068;0.21;0.21;0.21;0.134	B;B;B;B;B	0.23419	0.046;0.046;0.046;0.046;0.034	T	0.29610	-1.0006	10	0.32370	T	0.25	.	12.8634	0.57926	0.0:0.8187:0.1812:0.0	.	1036;1063;1073;1063;1073	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1073;1063;1036;1063;1073;1073;1036	ENSP00000362186:H1073N;ENSP00000362189:H1063N;ENSP00000362180:H1036N;ENSP00000355105:H1063N;ENSP00000384758:H1073N;ENSP00000298274:H1036N	ENSP00000298274:H1036N	H	+	1	0	PCDH11X	91529462	1.000000	0.71417	0.989000	0.46669	0.453000	0.32348	2.624000	0.46444	1.376000	0.46267	0.502000	0.49764	CAT		0.542	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		37	22	1	0	2.46787e-29	1	3.09405e-29	37	22				
PTGFRN	5738	broad.mit.edu	37	1	117503966	117503966	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:117503966G>T	ENST00000393203.2	+	5	1462	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	439	Ig-like C2-type 4.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GAGTGGGGAGGCGAATGTCCG	0.597																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1315-1317)Gcg>Tcg		prostaglandin F2 receptor inhibitor							123.0	95.0	105.0					1																	117503966		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117503966G>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1315G>T	1.37:g.117503966G>T	ENSP00000376899:p.Ala439Ser						p.A439S	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	5	1462	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	439			Ig-like C2-type 4.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1315G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	9.652	1.141921	0.21205	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.26067	1.76	5.45	3.57	0.40892	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354292	0.29544	N	0.011853	T	0.10078	0.0247	L	0.57536	1.79	0.09310	N	1	B	0.29212	0.237	B	0.34590	0.186	T	0.24154	-1.0168	10	0.16420	T	0.52	-23.8012	7.4372	0.27162	0.1914:0.0:0.8086:0.0	.	439	Q9P2B2	FPRP_HUMAN	S	439;298	ENSP00000376899:A439S	ENSP00000376899:A439S	A	+	1	0	PTGFRN	117305489	0.975000	0.34042	0.091000	0.20842	0.771000	0.43674	2.868000	0.48436	1.307000	0.44944	0.305000	0.20034	GCG		0.597	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		25	90	1	0	1.64293e-13	1	1.89917e-13	25	90				
SHANK2	22941	broad.mit.edu	37	11	70336360	70336360	+	Intron	SNP	G	G	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:70336360G>T	ENST00000423696.2	-	13	1451				SHANK2_ENST00000449116.2_Missense_Mutation_p.P260T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000409530.1_Missense_Mutation_p.P269T|SHANK2_ENST00000357171.3_Missense_Mutation_p.P270T|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000409161.1_Intron			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AACTTCTGTGGGGGAGTGCCA	0.587																																						ENST00000409530.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(805-807)Cca>Aca		SH3 and multiple ankyrin repeat domains 2							72.0	74.0	73.0					11																	70336360		2200	4294	6494	SO:0001627	intron_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70336360G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1414+20C>A	11.37:g.70336360G>T						SHANK2_ENST00000409161.1_Intron|SHANK2_ENST00000449833.2_Intron|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.P260T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.P270T	p.P269T			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		8	804	-			0			PDZ.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.805C>A		.	.	.	.	.	.	.	.	.	.	G	10.32	1.318071	0.23994	.	.	ENSG00000162105	ENST00000409530;ENST00000449116;ENST00000357171	T;T;T	0.57436	0.8;0.4;0.8	4.42	4.42	0.53409	.	.	.	.	.	T	0.45175	0.1329	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.17722	0.019	T	0.44065	-0.9352	8	0.87932	D	0	.	12.5427	0.56182	0.0:0.0:1.0:0.0	.	260	B7ZKU9	.	T	269;260;270	ENSP00000387324:P269T;ENSP00000394939:P260T;ENSP00000349694:P270T	ENSP00000349694:P270T	P	-	1	0	SHANK2	70014008	0.010000	0.17322	0.072000	0.20136	0.079000	0.17450	1.744000	0.38268	1.996000	0.58369	0.462000	0.41574	CCA		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		20	164	1	0	1.33834e-09	1	1.4923e-09	20	164				
PFAS	5198	broad.mit.edu	37	17	8158955	8158955	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:8158955A>G	ENST00000314666.6	+	5	653	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	174					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAATGGCCCTATCAATATACT	0.597																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(520-522)Atc>Gtc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						49.0	48.0	48.0					17																	8158955		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8158955A>G	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.520A>G	17.37:g.8158955A>G	ENSP00000313490:p.Ile174Val					PFAS_ENST00000545834.1_Intron	p.I174V	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			5	653	+			174					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.520A>G	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	0.249	-1.007957	0.02112	.	.	ENSG00000178921	ENST00000314666	T	0.14766	2.48	5.55	5.55	0.83447	.	0.125366	0.53938	D	0.000042	T	0.06872	0.0175	N	0.10782	0.045	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.11641	-1.0579	10	0.02654	T	1	-18.7331	13.6423	0.62257	1.0:0.0:0.0:0.0	.	174	O15067	PUR4_HUMAN	V	174	ENSP00000313490:I174V	ENSP00000313490:I174V	I	+	1	0	PFAS	8099680	0.536000	0.26378	0.064000	0.19789	0.299000	0.27559	1.388000	0.34442	2.108000	0.64289	0.379000	0.24179	ATC		0.597	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			18	23	0	0	0	1	0	18	23				
KCNC1	3746	broad.mit.edu	37	11	17757969	17757969	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:17757969C>T	ENST00000379472.3	+	1	450	c.420C>T	c.(418-420)ggC>ggT	p.G140G	KCNC1_ENST00000265969.6_Silent_p.G140G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	140					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACGGCCCTGGCGACTCGGGCG	0.726																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(418-420)ggC>ggT		potassium voltage-gated channel, Shaw-related subfamily, member 1							8.0	11.0	10.0					11																	17757969		2167	4230	6397	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757969C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.420C>T	11.37:g.17757969C>T						KCNC1_ENST00000265969.6_Silent_p.G140G	p.G140G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	450	+			140					K4DI87	Silent	SNP	ENST00000379472.3	37	c.420C>T	CCDS7827.1																																																																																				0.726	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		8	10	0	0	0	1	0	8	10				
TTN	7273	broad.mit.edu	37	2	179641980	179641980	+	Silent	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:179641980A>G	ENST00000591111.1	-	27	4934	c.4710T>C	c.(4708-4710)ggT>ggC	p.G1570G	TTN_ENST00000342992.6_Silent_p.G1570G|TTN_ENST00000342175.6_Silent_p.G1524G|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.G1524G|TTN_ENST00000589042.1_Silent_p.G1570G|TTN_ENST00000460472.2_Silent_p.G1524G|TTN_ENST00000360870.5_Silent_p.G1570G			Q8WZ42	TITIN_HUMAN	titin	12427	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTCGGGAACCTTCCTTTA	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(4708-4710)ggT>ggC		titin							148.0	139.0	142.0					2																	179641980		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641980A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4710T>C	2.37:g.179641980A>G						TTN_ENST00000342175.6_Silent_p.G1524G|TTN_ENST00000342992.6_Silent_p.G1570G|TTN_ENST00000591111.1_Silent_p.G1570G|TTN_ENST00000360870.5_Silent_p.G1570G|TTN_ENST00000460472.2_Silent_p.G1524G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Silent_p.G1524G	p.G1570G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		27	4934	-			1305			Ig-like 7.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.4710T>C																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	105	0	0	0	1	0	7	105				
C12orf43	64897	broad.mit.edu	37	12	121442181	121442181	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:121442181C>G	ENST00000288757.3	-	6	586	c.564G>C	c.(562-564)aaG>aaC	p.K188N	C12orf43_ENST00000366211.2_Missense_Mutation_p.K147N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000537817.1_Missense_Mutation_p.K189N|C12orf43_ENST00000445832.3_Missense_Mutation_p.K158N|C12orf43_ENST00000539736.1_Missense_Mutation_p.K178N	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	188	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTTTTCTTCTTTGCCTCCT	0.597																																						ENST00000445832.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(472-474)aaG>aaC		chromosome 12 open reading frame 43							136.0	154.0	148.0					12																	121442181		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121442181C>G	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.564G>C	12.37:g.121442181C>G	ENSP00000288757:p.Lys188Asn					C12orf43_ENST00000537817.1_Missense_Mutation_p.K189N|C12orf43_ENST00000366211.2_Missense_Mutation_p.K147N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000288757.3_Missense_Mutation_p.K188N|C12orf43_ENST00000539736.1_Missense_Mutation_p.K178N	p.K158N			Q96C57	CL043_HUMAN			6	576	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		188					Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.474G>C	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.718|9.718	1.158844|1.158844	0.21454|0.21454	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367|ENST00000546272	T;T;T;T;T|.	0.57436|.	0.46;0.44;0.44;0.4;0.52|.	4.8|4.8	0.644|0.644	0.17776|0.17776	.|.	0.592522|.	0.18385|.	N|.	0.142857|.	T|T	0.38746|0.38746	0.1052|0.1052	L|L	0.53249|0.53249	1.67|1.67	0.19775|0.19775	N|N	0.999957|0.999957	P;P;D;P;P|.	0.89917|.	0.815;0.815;1.0;0.815;0.815|.	P;P;D;P;P|.	0.85130|.	0.49;0.49;0.997;0.49;0.49|.	T|T	0.31586|0.31586	-0.9938|-0.9938	10|5	0.36615|.	T|.	0.2|.	-5.505|-5.505	4.9116|4.9116	0.13825|0.13825	0.0:0.4469:0.1525:0.4006|0.0:0.4469:0.1525:0.4006	.|.	178;147;189;178;188|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	N|T	158;188;189;147;178;126;143|142	ENSP00000409788:K158N;ENSP00000288757:K188N;ENSP00000442224:K189N;ENSP00000437803:K178N;ENSP00000442041:K126N|.	ENSP00000288757:K188N|.	K|R	-|-	3|2	2|0	C12orf43|C12orf43	119926564|119926564	0.043000|0.043000	0.20138|0.20138	0.218000|0.218000	0.23776|0.23776	0.002000|0.002000	0.02628|0.02628	0.310000|0.310000	0.19356|0.19356	0.465000|0.465000	0.27167|0.27167	-0.793000|-0.793000	0.03317|0.03317	AAG|AGA		0.597	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		16	110	0	0	0	1	0	16	110				
XPO1	7514	broad.mit.edu	37	2	61726874	61726874	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:61726874T>A	ENST00000401558.2	-	7	1291	c.564A>T	c.(562-564)caA>caT	p.Q188H	XPO1_ENST00000406957.1_Missense_Mutation_p.Q188H|XPO1_ENST00000404992.2_Missense_Mutation_p.Q188H	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	188	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TAGATTTGACTTGGGTTATCT	0.318			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(562-564)caA>caT		exportin 1 (CRM1 homolog, yeast)							63.0	65.0	64.0					2																	61726874		2202	4300	6502	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61726874T>A	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.564A>T	2.37:g.61726874T>A	ENSP00000384863:p.Gln188His					XPO1_ENST00000406957.1_Missense_Mutation_p.Q188H|XPO1_ENST00000404992.2_Missense_Mutation_p.Q188H	p.Q188H	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		7	1291	-			188			Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.564A>T	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138961	0.77775	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.51325	0.71;0.71;0.71	5.95	3.59	0.41128	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.91818	3.245	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.73889	-0.3840	10	0.56958	D	0.05	-12.7764	10.3242	0.43783	0.0:0.1326:0.0:0.8674	.	188	O14980	XPO1_HUMAN	H	188	ENSP00000384863:Q188H;ENSP00000385942:Q188H;ENSP00000385559:Q188H	ENSP00000384863:Q188H	Q	-	3	2	XPO1	61580378	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.386000	0.52492	0.506000	0.28125	0.533000	0.62120	CAA		0.318	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		34	67	0	0	0	1	0	34	67				
TACC2	10579	broad.mit.edu	37	10	123844120	123844120	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:123844120A>C	ENST00000369005.1	+	4	2445	c.2105A>C	c.(2104-2106)cAg>cCg	p.Q702P	TACC2_ENST00000334433.3_Missense_Mutation_p.Q702P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.Q702P|TACC2_ENST00000515603.1_Missense_Mutation_p.Q702P|TACC2_ENST00000453444.2_Missense_Mutation_p.Q702P|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	702					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACACCCTTCAGAGCAGGGAA	0.542																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2104-2106)cAg>cCg		transforming, acidic coiled-coil containing protein 2							43.0	47.0	46.0					10																	123844120		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844120A>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2105A>C	10.37:g.123844120A>C	ENSP00000358001:p.Gln702Pro					TACC2_ENST00000515273.1_Missense_Mutation_p.Q702P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.Q702P|TACC2_ENST00000453444.2_Missense_Mutation_p.Q702P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.Q702P	p.Q702P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2445	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	702					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2105A>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648175	0.47258	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.04917	3.61;3.53;3.55;3.61;3.53	5.47	2.98	0.34508	.	0.000000	0.33534	N	0.004809	T	0.11153	0.0272	L	0.34521	1.04	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66196	0.942;0.942;0.942	T	0.05937	-1.0855	10	0.87932	D	0	-4.1766	5.1108	0.14808	0.7537:0.0:0.0868:0.1595	.	702;702;702	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	P	702;702;702;702;702;692	ENSP00000358001:Q702P;ENSP00000424467:Q702P;ENSP00000427618:Q702P;ENSP00000334280:Q702P;ENSP00000395048:Q702P	ENSP00000334280:Q702P	Q	+	2	0	TACC2	123834110	0.004000	0.15560	0.051000	0.19133	0.072000	0.16883	0.187000	0.16998	0.900000	0.36469	0.459000	0.35465	CAG		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	36	0	0	0	1	0	8	36				
ZNF614	80110	broad.mit.edu	37	19	52519934	52519934	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:52519934T>A	ENST00000270649.6	-	5	1461	c.917A>T	c.(916-918)cAg>cTg	p.Q306L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATGAGTTCGCTGATGAGCAAT	0.413																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(916-918)cAg>cTg		zinc finger protein 614							125.0	112.0	117.0					19																	52519934		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519934T>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.917A>T	19.37:g.52519934T>A	ENSP00000270649:p.Gln306Leu					ZNF614_ENST00000356322.6_Intron	p.Q306L	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1461	-		all_neural(266;0.0505)	306					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.917A>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190511	0.58017	.	.	ENSG00000142556	ENST00000270649	T	0.14391	2.51	3.85	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16557	0.0398	N	0.05351	-0.065	0.21861	N	0.999508	D	0.71674	0.998	D	0.80764	0.994	T	0.15983	-1.0418	9	0.66056	D	0.02	.	8.4164	0.32674	0.1754:0.0:0.0:0.8246	.	306	Q8N883	ZN614_HUMAN	L	306	ENSP00000270649:Q306L	ENSP00000270649:Q306L	Q	-	2	0	ZNF614	57211746	0.003000	0.15002	0.987000	0.45799	0.997000	0.91878	1.334000	0.33827	0.507000	0.28148	0.533000	0.62120	CAG		0.413	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		5	299	0	0	0	1	0	5	299				
ZC3H12A	80149	broad.mit.edu	37	1	37948897	37948897	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr1:37948897C>T	ENST00000373087.6	+	6	1601	c.1485C>T	c.(1483-1485)caC>caT	p.H495H		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGCTGGCCACTTCAGTGTCC	0.647																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1483-1485)caC>caT		zinc finger CCCH-type containing 12A							74.0	85.0	81.0					1																	37948897		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948897C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1485C>T	1.37:g.37948897C>T							p.H495H	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			6	1601	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	495			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1485C>T	CCDS417.1																																																																																				0.647	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		63	99	0	0	0	1	0	63	99				
C14orf37	145407	broad.mit.edu	37	14	58605500	58605500	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:58605500C>T	ENST00000267485.7	-	2	771	c.577G>A	c.(577-579)Gca>Aca	p.A193T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	193						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTCAGTTGCAAATGATTGA	0.383																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(577-579)Gca>Aca		chromosome 14 open reading frame 37							104.0	101.0	102.0					14																	58605500		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605500C>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.577G>A	14.37:g.58605500C>T	ENSP00000267485:p.Ala193Thr					C14orf37_ENST00000334342.5_5'UTR	p.A193T	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	771	-			193					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.577G>A	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093578	0.20471	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.33865	1.39	5.85	1.74	0.24563	.	0.473096	0.21263	N	0.077441	T	0.24736	0.0600	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.18166	0.026;0.026;0.01;0.01	B;B;B;B	0.19946	0.017;0.027;0.017;0.017	T	0.18366	-1.0339	10	0.52906	T	0.07	-6.1391	5.1565	0.15038	0.0:0.5897:0.146:0.2643	.	231;193;193;193	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	T	193;231	ENSP00000267485:A193T	ENSP00000267485:A193T	A	-	1	0	C14orf37	57675253	0.000000	0.05858	0.147000	0.22382	0.321000	0.28281	-0.001000	0.12947	0.109000	0.17891	-0.137000	0.14449	GCA		0.383	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		13	172	0	0	0	1	0	13	172				
SCO2	9997	broad.mit.edu	37	22	50962127	50962127	+	Silent	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:50962127C>T	ENST00000543927.1	-	2	920	c.714G>A	c.(712-714)acG>acA	p.T238T	CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000535425.1_Silent_p.T238T|SCO2_ENST00000252785.3_Silent_p.T238T|SCO2_ENST00000395693.3_Silent_p.T238T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	238	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGTAGTAATCCGTGAAGAGGC	0.587																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(712-714)acG>acA		SCO2 cytochrome c oxidase assembly protein							150.0	135.0	140.0					22																	50962127		2203	4300	6503	SO:0001819	synonymous_variant	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962127C>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.714G>A	22.37:g.50962127C>T						SCO2_ENST00000395693.3_Silent_p.T238T|SCO2_ENST00000252785.3_Silent_p.T238T|SCO2_ENST00000535425.1_Silent_p.T238T	p.T238T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	920	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	238			Thioredoxin.		Q3T1B5|Q9UK87	Silent	SNP	ENST00000543927.1	37	c.714G>A	CCDS14095.1																																																																																				0.587	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		77	74	0	0	0	1	0	77	74				
CDC27	996	broad.mit.edu	37	17	45234324	45234324	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr17:45234324C>T	ENST00000066544.3	-	7	890	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					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						TAATAAACTTCGACCAGTTTT	0.358																																						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.(796-798)cGa>cAa		cell division cycle 27							60.0	65.0	63.0					17																	45234324		2200	4293	6493	SO:0001583	missense	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.chr17:45234324C>T	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.797G>A	17.37:g.45234324C>T	ENSP00000066544:p.Arg266Gln					CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q|CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q	p.R266Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			7	890	-			266					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.797G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328146	0.81690	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69806	-0.43;-0.4;-0.17;-0.43;0.52	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;P	0.89917	1.0;1.0;0.991;0.921	D;D;P;B	0.72338	0.95;0.977;0.724;0.153	T	0.69975	-0.4999	10	0.30854	T	0.27	-17.5002	17.2083	0.86924	0.0:1.0:0.0:0.0	.	205;266;266;266	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Q	266;266;205;266;266	ENSP00000066544:R266Q;ENSP00000434614:R266Q;ENSP00000392802:R205Q;ENSP00000437339:R266Q;ENSP00000432105:R266Q	ENSP00000066544:R266Q	R	-	2	0	CDC27	42589323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.665000	0.90641	0.460000	0.39030	CGA		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	69	0	0	0	1	0	4	69				
WDHD1	11169	broad.mit.edu	37	14	55411049	55411049	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:55411049C>T	ENST00000360586.3	-	25	3255		c.e25+1		WDHD1_ENST00000359167.4_Splice_Site|WDHD1_ENST00000420358.2_Splice_Site|WDHD1_ENST00000421192.1_Splice_Site	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1						heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATTATCCTTACCTTTCTTTCT	0.338																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.e25+1		WD repeat and HMG-box DNA binding protein 1							139.0	137.0	138.0					14																	55411049		2203	4299	6502	SO:0001630	splice_region_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55411049C>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.3189+1G>A	14.37:g.55411049C>T						WDHD1_ENST00000420358.2_Splice_Site|WDHD1_ENST00000421192.1_Splice_Site|WDHD1_ENST00000359167.4_Splice_Site		NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			25	3255	-								C9JW18|F6W0U7	Splice_Site	SNP	ENST00000360586.3	37		CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888683	0.52014	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2888	0.94090	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDHD1	54480799	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	6.217000	0.72218	2.668000	0.90789	0.655000	0.94253	.		0.338	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	Intron	86	79	0	0	0	1	0	86	79				
AGXT2	64902	broad.mit.edu	37	5	35010176	35010176	+	Missense_Mutation	SNP	C	C	A	rs199863290		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:35010176C>A	ENST00000231420.6	-	12	1467	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	423					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TCAAATTCATCCCGCAGCTTA	0.428																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(1267-1269)Gat>Tat		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						148.0	135.0	139.0					5																	35010176		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35010176C>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1267G>T	5.37:g.35010176C>A	ENSP00000231420:p.Asp423Tyr						p.D423Y	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	12	1467	-	all_lung(31;4.52e-05)		423					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.1267G>T	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675461	0.67928	.	.	ENSG00000113492	ENST00000231420	D	0.86627	-2.15	5.67	4.79	0.61399	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.044760	0.85682	D	0.000000	D	0.92743	0.7693	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.983;0.984	D	0.92929	0.6362	10	0.59425	D	0.04	-21.2743	14.5648	0.68168	0.0:0.9285:0.0:0.0715	.	348;423	E9PDL7;Q9BYV1	.;AGT2_HUMAN	Y	423	ENSP00000231420:D423Y	ENSP00000231420:D423Y	D	-	1	0	AGXT2	35045933	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.410000	0.66381	2.677000	0.91161	0.655000	0.94253	GAT		0.428	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		73	74	1	0	1.15773e-35	1	1.45874e-35	73	74				
STIP1	10963	broad.mit.edu	37	11	63964770	63964770	+	Missense_Mutation	SNP	G	G	A	rs149913210		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr11:63964770G>A	ENST00000305218.4	+	6	847	c.700G>A	c.(700-702)Gat>Aat	p.D234N	STIP1_ENST00000358794.5_Missense_Mutation_p.D281N|STIP1_ENST00000538945.1_Missense_Mutation_p.D210N	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	234					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCTGGGGAACGATGCCTACAA	0.443																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(841-843)Gat>Aat		stress-induced-phosphoprotein 1		G	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	105.0	91.0	96.0		700	5.8	0.6	11	dbSNP_134	96	0,8594		0,0,4297	no	missense	STIP1	NM_006819.2	23	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	234/544	63964770	1,12995	2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63964770G>A	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.700G>A	11.37:g.63964770G>A	ENSP00000305958:p.Asp234Asn					STIP1_ENST00000538945.1_Missense_Mutation_p.D210N|STIP1_ENST00000305218.4_Missense_Mutation_p.D234N	p.D281N			P31948	STIP1_HUMAN			6	1394	+			234					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.841G>A	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374540	0.42105	2.27E-4	0.0	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	T;T;T	0.59224	0.28;0.28;0.28	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.729135	0.13962	N	0.350749	T	0.51346	0.1669	L	0.37466	1.105	0.41817	D	0.99	B;B	0.28713	0.184;0.22	B;B	0.24701	0.032;0.055	T	0.41395	-0.9511	10	0.27082	T	0.32	-19.0529	19.3175	0.94220	0.0:0.0:1.0:0.0	.	210;234	F5H0T1;P31948	.;STIP1_HUMAN	N	281;234;210	ENSP00000351646:D281N;ENSP00000305958:D234N;ENSP00000445957:D210N	ENSP00000305958:D234N	D	+	1	0	STIP1	63721346	0.988000	0.35896	0.592000	0.28758	0.557000	0.35523	4.044000	0.57361	2.941000	0.99782	0.655000	0.94253	GAT		0.443	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		11	83	0	0	0	1	0	11	83				
KALRN	8997	broad.mit.edu	37	3	124398338	124398338	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:124398338G>C	ENST00000462213.1	+	3	426	c.202G>C	c.(202-204)Gat>Cat	p.D68H	KALRN_ENST00000428018.2_Missense_Mutation_p.D722H|KALRN_ENST00000291478.5_Missense_Mutation_p.D754H|KALRN_ENST00000360013.3_Missense_Mutation_p.D2451H			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2450	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGTGTGATGATCTTGACCC	0.433																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7351-7353)Gat>Cat		kalirin, RhoGEF kinase							312.0	262.0	279.0					3																	124398338		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124398338G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.202G>C	3.37:g.124398338G>C	ENSP00000418790:p.Asp68His					KALRN_ENST00000428018.2_Missense_Mutation_p.D722H|KALRN_ENST00000291478.4_Missense_Mutation_p.D754H|KALRN_ENST00000462213.1_Missense_Mutation_p.D68H	p.D2451H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			51	7478	+			2450					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000462213.1	37	c.7351G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.018998|5.018998	0.93462|0.93462	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213|ENST00000354186	T;T;T;T|.	0.60797|.	0.16;0.51;0.51;0.51|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55924|0.55924	0.1951|0.1951	N|N	0.22421|0.22421	0.69|0.69	0.50171|0.50171	D|D	0.999851|0.999851	D;D|.	0.65815|.	0.995;0.995|.	P;P|.	0.58013|.	0.831;0.831|.	T|T	0.48779|0.48779	-0.9005|-0.9005	10|5	0.48119|.	T|.	0.1|.	.|.	19.317|19.317	0.94218|0.94218	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	754;2450|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	H|I	2451;754;722;68|2419	ENSP00000353109:D2451H;ENSP00000291478:D754H;ENSP00000402419:D722H;ENSP00000418790:D68H|.	ENSP00000291478:D754H|.	D|M	+|+	1|3	0|0	KALRN|KALRN	125881028|125881028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.789000|8.789000	0.91839|0.91839	2.806000|2.806000	0.96561|0.96561	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.433	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356377.1	NM_003947		13	121	0	0	0	1	0	13	121				
GIMAP7	168537	broad.mit.edu	37	7	150217161	150217161	+	Silent	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:150217161C>A	ENST00000313543.4	+	2	256	c.99C>A	c.(97-99)atC>atA	p.I33I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	33	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAGGAAATCTTTGATTCTA	0.512																																						ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(97-99)atC>atA		GTPase, IMAP family member 7							65.0	59.0	61.0					7																	150217161		2203	4300	6503	SO:0001819	synonymous_variant	168537						GTP binding	g.chr7:150217161C>A	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.99C>A	7.37:g.150217161C>A							p.I33I	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	256	+			33						Silent	SNP	ENST00000313543.4	37	c.99C>A	CCDS5903.1																																																																																				0.512	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		7	30	1	0	0.00198382	1	0.0020322	7	30				
HIST1H2BA	255626	broad.mit.edu	37	6	25727498	25727498	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr6:25727498C>A	ENST00000274764.2	+	1	362	c.362C>A	c.(361-363)aCt>aAt	p.T121N	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	121					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T117_S125delTKAVTKYTS(1)		breast(1)|kidney(1)	2						AAGGCTGTCACTAAGTACACC	0.498																																						ENST00000274764.2																			1	Deletion - In frame(1)	p.T117_S125delTKAVTKYTS(1)	breast(1)	breast(1)|kidney(1)	2						c.(361-363)aCt>aAt		histone cluster 1, H2ba							282.0	203.0	230.0					6																	25727498		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727498C>A	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.362C>A	6.37:g.25727498C>A	ENSP00000274764:p.Thr121Asn						p.T121N	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN			1	362	+			121					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.362C>A	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601776	0.46423	.	.	ENSG00000146047	ENST00000274764	T	0.44482	0.92	3.33	3.33	0.38152	Histone-fold (2);	0.000000	0.64402	D	0.000001	T	0.66538	0.2799	M	0.93328	3.405	0.58432	D	0.999995	P	0.51537	0.946	D	0.70487	0.969	T	0.76537	-0.2923	10	0.87932	D	0	.	14.4817	0.67587	0.0:1.0:0.0:0.0	.	121	Q96A08	H2B1A_HUMAN	N	121	ENSP00000274764:T121N	ENSP00000274764:T121N	T	+	2	0	HIST1H2BA	25835477	1.000000	0.71417	0.316000	0.25252	0.008000	0.06430	7.474000	0.81024	2.181000	0.69327	0.644000	0.83932	ACT		0.498	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		20	30	1	0	1.01871e-10	1	1.15119e-10	20	30				
HMGCR	3156	broad.mit.edu	37	5	74647084	74647084	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:74647084A>G	ENST00000287936.4	+	10	1289	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	HMGCR_ENST00000343975.5_Missense_Mutation_p.N378S|HMGCR_ENST00000511206.1_Missense_Mutation_p.N378S	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	378	Linker.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTGGTCAGAAATAACCAGAAA	0.388																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1132-1134)aAt>aGt		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						77.0	78.0	78.0					5																	74647084		2203	4299	6502	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74647084A>G		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1133A>G	5.37:g.74647084A>G	ENSP00000287936:p.Asn378Ser					HMGCR_ENST00000511206.1_Missense_Mutation_p.N378S|HMGCR_ENST00000343975.5_Missense_Mutation_p.N378S	p.N378S	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	10	1289	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	378			Linker.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1133A>G	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	A	4.326	0.059856	0.08339	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.42131	0.99;0.99;0.98	5.79	2.19	0.27852	.	0.403858	0.32343	N	0.006221	T	0.26738	0.0654	L	0.36672	1.1	0.26800	N	0.969223	B;B;B	0.14012	0.009;0.003;0.001	B;B;B	0.12837	0.008;0.008;0.002	T	0.27706	-1.0066	10	0.08381	T	0.77	-4.1212	8.8052	0.34934	0.7842:0.0:0.2158:0.0	.	378;378;378	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	S	378;309;378;378	ENSP00000426745:N378S;ENSP00000287936:N378S;ENSP00000340816:N378S	ENSP00000287936:N378S	N	+	2	0	HMGCR	74682840	0.783000	0.28701	0.927000	0.36925	0.722000	0.41435	0.654000	0.24918	0.150000	0.19136	0.528000	0.53228	AAT		0.388	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			46	32	0	0	0	1	0	46	32				
CDHR2	54825	broad.mit.edu	37	5	176008504	176008504	+	Missense_Mutation	SNP	G	G	A	rs201340301	byFrequency	TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:176008504G>A	ENST00000510636.1	+	17	2253	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CDHR2_ENST00000261944.5_Missense_Mutation_p.R660H|CDHR2_ENST00000506348.1_Missense_Mutation_p.R660H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	660	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAGGGCCGCATTGTGCTG	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		16977	0.002		0.0	False		,,,				2504	0.0					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1978-1980)cGc>cAc		cadherin-related family member 2							52.0	53.0	53.0					5																	176008504		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176008504G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1979G>A	5.37:g.176008504G>A	ENSP00000424565:p.Arg660His					CDHR2_ENST00000261944.5_Missense_Mutation_p.R660H|CDHR2_ENST00000506348.1_Missense_Mutation_p.R660H	p.R660H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			17	2253	+			660			Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1979G>A	CCDS34297.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.18	1.279723	0.23392	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.52754	0.65;0.65;0.65	5.47	3.35	0.38373	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38268	0.1034	L	0.47716	1.5	0.24303	N	0.995118	B	0.31290	0.318	B	0.28553	0.091	T	0.18335	-1.0340	9	0.32370	T	0.25	-17.2615	9.372	0.38258	0.26:0.0:0.74:0.0	.	660	Q9BYE9	CDHR2_HUMAN	H	660	ENSP00000424565:R660H;ENSP00000261944:R660H;ENSP00000421078:R660H	ENSP00000261944:R660H	R	+	2	0	CDHR2	175941110	0.049000	0.20398	0.998000	0.56505	0.498000	0.33706	0.862000	0.27899	1.312000	0.45043	0.549000	0.68633	CGC		0.622	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	53	0	0	0	1	0	6	53				
PPP1R9A	55607	broad.mit.edu	37	7	94539840	94539840	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:94539840T>A	ENST00000433881.1	+	2	947	c.415T>A	c.(415-417)Ttc>Atc	p.F139I	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.F139I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.F139I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.F139I			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	139	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATATTCCAAGTTCACTGAGAC	0.423										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(415-417)Ttc>Atc		protein phosphatase 1, regulatory subunit 9A							139.0	134.0	135.0					7																	94539840		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539840T>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.415T>A	7.37:g.94539840T>A	ENSP00000398870:p.Phe139Ile	HNSCC(28;0.073)				PPP1R9A_ENST00000433881.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.F139I|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.F139I|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.F139I|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.F139I	p.F139I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	631	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		139			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.415T>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.658789	0.29515	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.66	3.16	0.36331	.	0.049548	0.85682	D	0.000000	D	0.95551	0.8554	M	0.77103	2.36	0.43145	D	0.994905	D;D;D;P;P	0.89917	0.958;1.0;1.0;0.78;0.91	P;D;D;B;B	0.85130	0.465;0.997;0.997;0.265;0.388	D	0.94447	0.7664	9	.	.	.	.	8.184	0.31328	0.0:0.0697:0.1347:0.7956	.	139;139;139;139;139	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	I	139	ENSP00000405514:F139I;ENSP00000344524:F139I;ENSP00000411342:F139I;ENSP00000398870:F139I;ENSP00000289495:F139I;ENSP00000402893:F139I	.	F	+	1	0	PPP1R9A	94377776	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	4.784000	0.62411	1.097000	0.41459	0.482000	0.46254	TTC		0.423	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		48	210	0	0	0	1	0	48	210				
CILP	8483	broad.mit.edu	37	15	65489297	65489297	+	Silent	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr15:65489297G>A	ENST00000261883.4	-	9	3493	c.3327C>T	c.(3325-3327)agC>agT	p.S1109S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1109					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCCCACATTGCTCTTCATGA	0.592																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3325-3327)agC>agT		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							72.0	55.0	61.0					15																	65489297		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489297G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3327C>T	15.37:g.65489297G>A							p.S1109S	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3493	-			1109					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.3327C>T	CCDS10203.1																																																																																				0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		13	47	0	0	0	1	0	13	47				
GSTZ1	2954	broad.mit.edu	37	14	77793842	77793842	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:77793842C>T	ENST00000216465.5	+	4	448	c.163C>T	c.(163-165)Cct>Tct	p.P55S	GSTZ1_ENST00000556627.1_Intron|GSTZ1_ENST00000557639.1_5'UTR|GSTZ1_ENST00000553586.1_Missense_Mutation_p.P56S|GSTZ1_ENST00000349555.3_Missense_Mutation_p.P55S|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000554279.1_Missense_Mutation_p.P55S	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	55	GST N-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GGCACTGAATCCTATGAAGCA	0.577																																						ENST00000216465.5																			0				lung(2)|prostate(1)	3						c.(163-165)Cct>Tct		glutathione S-transferase zeta 1	Glutathione(DB00143)						51.0	44.0	46.0					14																	77793842		2203	4300	6503	SO:0001583	missense	2954				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	g.chr14:77793842C>T	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000216465.5:c.163C>T	14.37:g.77793842C>T	ENSP00000216465:p.Pro55Ser					GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000554279.1_Missense_Mutation_p.P55S|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000349555.3_Missense_Mutation_p.P55S|GSTZ1_ENST00000556627.1_Intron|GSTZ1_ENST00000553586.1_Missense_Mutation_p.P56S|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000557639.1_5'UTR	p.P55S	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	448	+			55			GST N-terminal.		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000216465.5	37	c.163C>T	CCDS9858.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330105	0.81690	.	.	ENSG00000100577	ENST00000216465;ENST00000554279;ENST00000349555;ENST00000553586	T;T;T;T	0.38560	1.13;2.25;1.13;1.13	5.63	4.71	0.59529	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.88842	2.985	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.75484	0.986;0.948	T	0.74808	-0.3539	10	0.87932	D	0	-4.3478	13.9118	0.63871	0.0:0.8483:0.1517:0.0	.	55;55	A6NED0;O43708	.;MAAI_HUMAN	S	55;55;55;56	ENSP00000216465:P55S;ENSP00000452498:P55S;ENSP00000314404:P55S;ENSP00000451976:P56S	ENSP00000216465:P55S	P	+	1	0	GSTZ1	76863595	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.994000	0.56994	2.648000	0.89879	0.655000	0.94253	CCT		0.577	GSTZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414082.1	NM_145870		12	45	0	0	0	1	0	12	45				
IFNA10	3446	broad.mit.edu	37	9	21206966	21206966	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:21206966A>G	ENST00000357374.2	-	1	176	c.131T>C	c.(130-132)aTg>aCg	p.M44T		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	44					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GATTCTTCCCATTTGTCCCAG	0.522																																						ENST00000357374.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(130-132)aTg>aCg		interferon, alpha 10							99.0	105.0	103.0					9																	21206966		2203	4300	6503	SO:0001583	missense	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206966A>G		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.131T>C	9.37:g.21206966A>G	ENSP00000369566:p.Met44Thr						p.M44T	NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	176	-			44					Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	c.131T>C	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	13.04	2.118149	0.37339	.	.	ENSG00000186803	ENST00000357374	T	0.04654	3.58	3.65	3.65	0.41850	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.141424	0.64402	D	0.000008	T	0.21590	0.0520	M	0.89840	3.065	0.09310	N	1	D	0.60575	0.988	D	0.79784	0.993	T	0.06789	-1.0807	10	0.87932	D	0	.	5.949	0.19235	0.8758:0.0:0.1242:0.0	.	44	P01566	IFN10_HUMAN	T	44	ENSP00000369566:M44T	ENSP00000369566:M44T	M	-	2	0	IFNA10	21196966	0.711000	0.27906	0.049000	0.19019	0.179000	0.23085	2.011000	0.40922	1.426000	0.47256	0.409000	0.27619	ATG		0.522	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		55	68	0	0	0	1	0	55	68				
RSU1P2	100133308	broad.mit.edu	37	10	45602405	45602405	+	RNA	SNP	G	G	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:45602405G>A	ENST00000423875.1	-	0	1031									Ras suppressor protein 1 pseudogene 2																		CTACAAGGCTGCAGCAGTGAA	0.388																																						ENST00000423875.1																			0																																																			100133308							g.chr10:45602405G>A			10q11.21	2013-06-03			ENSG00000242848	ENSG00000232554			44391	pseudogene	pseudogene							Standard	NR_024472		Approved		uc009xmq.2		OTTHUMG00000185442		10.37:g.45602405G>A														0	1031	-									RNA	SNP	ENST00000423875.1	37																																																																																						0.388	RSU1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471233.1			8	30	0	0	0	1	0	8	30				
ZNF8	7554	broad.mit.edu	37	19	58805933	58805933	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr19:58805933G>C	ENST00000196548.5	+	4	890	c.759G>C	c.(757-759)caG>caC	p.Q253H	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.Q253H			P17098	ZNF8_HUMAN	zinc finger protein 8	253					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCAGGTGCAGGACAAACCCT	0.483																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(757-759)caG>caC		zinc finger protein 8							72.0	68.0	69.0					19																	58805933		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58805933G>C	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.759G>C	19.37:g.58805933G>C	ENSP00000196548:p.Gln253His					AC010642.1_ENST00000591325.1_3'UTR	p.Q253H	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	890	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	253					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.759G>C	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922132	0.52653	.	.	ENSG00000083842	ENST00000196548	T	0.06371	3.31	4.93	-4.14	0.03892	.	0.399934	0.19323	N	0.117100	T	0.04998	0.0134	L	0.47716	1.5	0.20196	N	0.999922	P	0.51653	0.947	P	0.44561	0.453	T	0.23048	-1.0199	10	0.87932	D	0	-6.3911	1.2972	0.02072	0.3951:0.2629:0.2086:0.1334	.	253	P17098	ZNF8_HUMAN	H	253	ENSP00000196548:Q253H	ENSP00000196548:Q253H	Q	+	3	2	ZNF8	63497745	0.000000	0.05858	0.038000	0.18304	0.235000	0.25334	-0.889000	0.04144	-0.422000	0.07405	-0.151000	0.13558	CAG		0.483	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		39	29	0	0	0	1	0	39	29				
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		7	194						7	194	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452233	43452234	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr2:43452233_43452234insCA	ENST00000282388.3	-	2	1002_1003	c.709_710insTG	c.(709-711)ggcfs	p.G237fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	237					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				ATCGCGCGTGCCAAAGGCACGC	0.733																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(709-711)cacfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452233_43452234insCA	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.708_709dupTG	2.37:g.43452234_43452235dupCA	ENSP00000282388:p.Gly237fs					THADA_ENST00000330266.7_Intron	p.H237fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1002_1003	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	237					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.709_710insTG	CCDS1811.1																																																																																				0.733	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		5	10						5	10	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		10	147						10	147	---	---	---	---
C5orf38	153571	broad.mit.edu	37	5	2755276	2755277	+	3'UTR	INS	-	-	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr5:2755276_2755277insA	ENST00000334000.3	+	0	655_656				IRX2_ENST00000502957.1_5'Flank|C5orf38_ENST00000397835.4_Frame_Shift_Ins_p.R157fs	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38							extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGCCGACTGAGAAggccggggc	0.777																																						ENST00000397835.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(466-468)aagfs		chromosome 5 open reading frame 38																																				SO:0001624	3_prime_UTR_variant	153571					extracellular region		g.chr5:2755276_2755277insA	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.*122->A	5.37:g.2755278_2755278dupA						C5orf38_ENST00000334000.3_3'UTR	p.K156fs			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	3	467_468	+			42						Frame_Shift_Ins	INS	ENST00000334000.3	37	c.467_468insA	CCDS34131.1																																																																																				0.777	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		28	28						28	28	---	---	---	---
AKR1B1	231	broad.mit.edu	37	7	134143791	134143791	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr7:134143791delG	ENST00000285930.4	-	1	103	c.24delC	c.(22-24)aacfs	p.N9fs	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	9					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	TGGCGCCGTTGTTGAGCAGGA	0.692											OREG0018334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000285930.4																			0				kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14						c.(22-24)aafs		aldo-keto reductase family 1, member B1 (aldose reductase)	NADH(DB00157)|Sulindac(DB00605)						34.0	27.0	30.0					7																	134143791		2202	4298	6500	SO:0001589	frameshift_variant	231				C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr7:134143791delG	J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.24delC	7.37:g.134143791delG	ENSP00000285930:p.Asn9fs		OREG0018334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1608	AKR1B1_ENST00000489022.1_5'UTR	p.N9fs	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN			1	103	-			9					B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Frame_Shift_Del	DEL	ENST00000285930.4	37	c.24delC	CCDS5831.1																																																																																				0.692	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628		2	4						2	4	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971156	21971156	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr9:21971156delC	ENST00000304494.5	-	2	472	c.202delG	c.(202-204)gcgfs	p.A68fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.R82fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.R82fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.R123fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A17fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	68			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V. {ECO:0000269|PubMed:8710906}.|Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TTGGGCTCCGCGCCGTGGAGC	0.706		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1377	Whole gene deletion(1316)|Unknown(45)|Deletion - Frameshift(9)|Substitution - Missense(5)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(1315)|p.?(45)|p.A68T(5)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E61_L94del(1)|p.0(1)|p.L64_E69>Q(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)	haematopoietic_and_lymphoid_tissue(285)|skin(175)|central_nervous_system(167)|lung(146)|urinary_tract(92)|bone(74)|oesophagus(58)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(244-246)ccfs		cyclin-dependent kinase inhibitor 2A							7.0	9.0	9.0					9																	21971156		2125	4228	6353	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971156delC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.202delG	9.37:g.21971156delC	ENSP00000307101:p.Ala68fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.R82fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.R123fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A17fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A68fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.A68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A17fs	p.R82fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	537	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.245delG	CCDS6510.1																																																																																				0.706	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	7						4	7	---	---	---	---
NUDT13	25961	broad.mit.edu	37	10	74882016	74882017	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr10:74882016_74882017insA	ENST00000357321.4	+	4	425_426	c.307_308insA	c.(307-309)gaafs	p.E103fs	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000372997.3_Frame_Shift_Ins_p.E103fs|NUDT13_ENST00000349051.5_Frame_Shift_Ins_p.E103fs	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TGAGCAGCAGGAAGCATGGTTT	0.446																																						ENST00000357321.4																			0				large_intestine(2)|lung(5)	7						c.(307-309)agcfs		nudix (nucleoside diphosphate linked moiety X)-type motif 13																																				SO:0001589	frameshift_variant	25961						hydrolase activity|metal ion binding	g.chr10:74882016_74882017insA	AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.309dupA	10.37:g.74882018_74882018dupA	ENSP00000349874:p.Glu103fs					NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000349051.5_Frame_Shift_Ins_p.S103fs|NUDT13_ENST00000372997.3_Frame_Shift_Ins_p.S103fs|NUDT13_ENST00000544879.1_5'UTR	p.S103fs	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN			4	425_426	+	Prostate(51;0.0119)		103						Frame_Shift_Ins	INS	ENST00000357321.4	37	c.307_308insA	CCDS31220.1																																																																																				0.446	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		40	98						40	98	---	---	---	---
GNS	2799	broad.mit.edu	37	12	65152922	65152922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr12:65152922delC	ENST00000258145.3	-	1	305	c.135delG	c.(133-135)cggfs	p.R46fs	GNS_ENST00000542058.1_Frame_Shift_Del_p.R46fs|RP11-629N8.3_ENST00000434563.3_RNA|snoU13_ENST00000458789.1_RNA|GNS_ENST00000543646.1_Frame_Shift_Del_p.R46fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	46					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CGTTGGGCCTCCGGGTTCCCG	0.697																																						ENST00000258145.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15						c.(133-135)cgfs		glucosamine (N-acetyl)-6-sulfatase							23.0	24.0	23.0					12																	65152922		2183	4267	6450	SO:0001589	frameshift_variant	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65152922delC		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.135delG	12.37:g.65152922delC	ENSP00000258145:p.Arg46fs					GNS_ENST00000542058.1_Frame_Shift_Del_p.R46fs|GNS_ENST00000543646.1_Frame_Shift_Del_p.R46fs	p.R46fs	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	1	305	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		46					B4DYH8|Q53F05	Frame_Shift_Del	DEL	ENST00000258145.3	37	c.135delG	CCDS8970.1																																																																																				0.697	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			2	4						2	4	---	---	---	---
LINC00640	283553	broad.mit.edu	37	14	51817667	51817668	+	lincRNA	INS	-	-	TGG			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr14:51817667_51817668insTGG	ENST00000555649.1	-	0	651																											CTTTCTCTCTCTGGTGAGGAAG	0.446																																						ENST00000555649.1																			0																																																			283553							g.chr14:51817667_51817668insTGG																													14.37:g.51817668_51817670dupTGG														0	651	-									RNA	INS	ENST00000555649.1	37																																																																																						0.446	RP11-255G12.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411552.1			7	8						7	8	---	---	---	---
RANBP1	5902	broad.mit.edu	37	22	20113982	20113982	+	Intron	DEL	A	A	-			TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chr22:20113982delA	ENST00000331821.3	+	5	607				RANBP1_ENST00000402752.1_Intron|SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000430524.1_Frame_Shift_Del_p.D109fs	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1						intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGTCTGCCAGATAAACATTCC	0.557																																						ENST00000430524.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(325-327)gtfs		RAN binding protein 1																																				SO:0001627	intron_variant	5902				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding	g.chr22:20113982delA	D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.505+91A>-	22.37:g.20113982delA						RANBP1_ENST00000402752.1_Intron|SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000331821.3_Intron	p.D109fs			P43487	RANG_HUMAN			6	1157	+	Colorectal(54;0.0993)		0			RanBD1.		Q53EY3	Frame_Shift_Del	DEL	ENST00000331821.3	37	c.326delA	CCDS13775.1																																																																																				0.557	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882		10	26						10	26	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73043145	73043145	+	lincRNA	DEL	T	T	-	rs375977945		TCGA-P3-A6SX-01A-11D-A34J-08	TCGA-P3-A6SX-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd5dcc9c-1174-4393-bce7-56618c12275e	8f61840b-3fe7-40a7-9c5d-36d935dfc881	g.chrX:73043145delT	ENST00000604411.1	+	0	31106				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		tttttctttcttttttttttt	0.348													|||unknown(HR)	989	0.261987	0.3207	0.2032	3775	,	,		11900	0.1071		0.1491	False		,,,				2504	0.1697					ENST00000604411.1																			0																				2.0	2.0	2.0					X																	73043145		660	1494	2154			9383							g.chrX:73043145delT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043145delT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	31106	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.348	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		3	2						3	2	---	---	---	---
