#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
ZP4	57829	broad.mit.edu	37	1	238048465	238048465	+	Splice_Site	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:238048465C>T	ENST00000366570.4	-	9	1469	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	437	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AACATCCTACCGGTCCCCTGA	0.522																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.e9+1		zona pellucida glycoprotein 4							77.0	82.0	80.0					1																	238048465		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238048465C>T	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1311+1G>A	1.37:g.238048465C>T						RP11-193H5.1_ENST00000450451.1_RNA	p.P437_splice	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		9	1469	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	437			ZP.		B2RAE1	Splice_Site	SNP	ENST00000366570.4	37	c.1311_splice	CCDS1615.1																																																																																				0.522	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Silent	22	42	0	0	0	1	0	22	42				
C2orf54	79919	broad.mit.edu	37	2	241828002	241828002	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:241828002C>T	ENST00000388934.4	-	4	1116	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	C2orf54_ENST00000402775.2_Missense_Mutation_p.A152T|C2orf54_ENST00000307486.8_Missense_Mutation_p.A171T	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	320										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGGTACACGGCGCCCTGCAGT	0.697																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(511-513)Gcc>Acc		chromosome 2 open reading frame 54							11.0	15.0	14.0					2																	241828002		2128	4240	6368	SO:0001583	missense	79919							g.chr2:241828002C>T	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.958G>A	2.37:g.241828002C>T	ENSP00000373586:p.Ala320Thr					C2orf54_ENST00000388934.4_Missense_Mutation_p.A320T|C2orf54_ENST00000402775.2_Missense_Mutation_p.A152T	p.A171T			Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	4	609	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	320					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.511G>A	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035743	0.54896	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.08102	3.13;3.13;3.13	4.26	2.07	0.26955	.	0.540328	0.16695	N	0.203397	T	0.11110	0.0271	L	0.60455	1.87	0.21579	N	0.999632	P;P;P	0.51351	0.904;0.944;0.931	B;B;B	0.43052	0.314;0.406;0.284	T	0.11324	-1.0592	10	0.87932	D	0	-0.0041	11.0718	0.48008	0.494:0.506:0.0:0.0	.	320;171;152	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	T	152;171;320	ENSP00000385338:A152T;ENSP00000302779:A171T;ENSP00000373586:A320T	ENSP00000302779:A171T	A	-	1	0	C2orf54	241476675	0.172000	0.23043	0.994000	0.49952	0.903000	0.53119	0.532000	0.23067	0.720000	0.32209	0.536000	0.68110	GCC		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		3	27	0	0	0	1	0	3	27				
ZC3H12B	340554	broad.mit.edu	37	X	64721964	64721964	+	Silent	SNP	C	C	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:64721964C>A	ENST00000338957.4	+	5	1453	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V	ZC3H12B_ENST00000423889.3_Silent_p.V451V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	462							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTAGTTCTGTCCCCTCGCTTG	0.607																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1384-1386)gtC>gtA		zinc finger CCCH-type containing 12B							79.0	83.0	82.0					X																	64721964		2077	4188	6265	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64721964C>A	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1386C>A	X.37:g.64721964C>A						ZC3H12B_ENST00000423889.3_Silent_p.V451V	p.V462V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	1453	+			451					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1386C>A	CCDS48131.2																																																																																				0.607	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		12	116	1	0	0.38729	1	0.38729	12	116				
PARP1	142	broad.mit.edu	37	1	226553702	226553702	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:226553702T>C	ENST00000366794.5	-	18	2601	c.2458A>G	c.(2458-2460)Aac>Gac	p.N820D	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	820	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCATGAGTGTTCTTAACATAC	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2458-2460)Aac>Gac	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							205.0	149.0	168.0					1																	226553702		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226553702T>C	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2458A>G	1.37:g.226553702T>C	ENSP00000355759:p.Asn820Asp					PARP1_ENST00000490921.1_5'UTR	p.N820D	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	18	2601	-	Breast(184;0.133)		820			PARP catalytic.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.2458A>G	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	T	31	5.060433	0.93846	.	.	ENSG00000143799	ENST00000366794	T	0.14640	2.49	5.68	5.68	0.88126	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.42899	-0.9424	10	0.72032	D	0.01	.	15.9357	0.79704	0.0:0.0:0.0:1.0	.	820	P09874	PARP1_HUMAN	D	820	ENSP00000355759:N820D	ENSP00000355759:N820D	N	-	1	0	PARP1	224620325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.249000	0.78278	2.177000	0.69029	0.528000	0.53228	AAC		0.468	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		5	36	0	0	0	1	0	5	36				
TRANK1	9881	broad.mit.edu	37	3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:36874112C>T	ENST00000429976.2	-	21	7077	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1727H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5179-5181)cGc>cAc		tetratricopeptide repeat and ankyrin repeat containing 1							61.0	62.0	61.0					3																	36874112		1883	4100	5983	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874112C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6830G>A	3.37:g.36874112C>T	ENSP00000416168:p.Arg2277His					TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2277H	p.R1727H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	7077	-			2277					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5180G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	5.908	0.351583	0.11182	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.33865	1.39;1.8;1.39	5.05	3.23	0.37069	.	0.131761	0.33477	N	0.004876	T	0.19525	0.0469	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.14727	-1.0462	10	0.28530	T	0.3	.	5.3537	0.16050	0.0:0.5517:0.1377:0.3105	.	2277	O15050	TRNK1_HUMAN	H	1727;2277;1727	ENSP00000416826:R1727H;ENSP00000416168:R2277H;ENSP00000301807:R1727H	ENSP00000301807:R1727H	R	-	2	0	TRANK1	36849116	0.000000	0.05858	0.024000	0.17045	0.694000	0.40290	0.080000	0.14802	0.613000	0.30089	0.561000	0.74099	CGC		0.478	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		19	36	0	0	0	1	0	19	36				
OTOP1	133060	broad.mit.edu	37	4	4199453	4199453	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:4199453G>A	ENST00000296358.4	-	5	1132	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	370					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTAAATCCGGATTCCAGCC	0.582																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1108-1110)Cgg>Tgg		otopetrin 1							39.0	43.0	42.0					4																	4199453		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199453G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1108C>T	4.37:g.4199453G>A	ENSP00000296358:p.Arg370Trp						p.R370W	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1132	-			370					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1108C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	4.502	0.093099	0.08632	.	.	ENSG00000163982	ENST00000296358	T	0.08807	3.05	4.8	-2.93	0.05598	.	0.850416	0.10371	N	0.682800	T	0.04588	0.0125	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.39461	-0.9613	10	0.44086	T	0.13	-3.6484	3.0919	0.06296	0.3462:0.1054:0.4416:0.1068	.	370	Q7RTM1	OTOP1_HUMAN	W	370	ENSP00000296358:R370W	ENSP00000296358:R370W	R	-	1	2	OTOP1	4250354	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.074000	0.11450	-0.617000	0.05664	0.404000	0.27445	CGG		0.582	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	83	0	0	0	1	0	6	83				
KLHL18	23276	broad.mit.edu	37	3	47384261	47384261	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:47384261G>A	ENST00000232766.5	+	9	1299	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	KLHL18_ENST00000455924.2_Missense_Mutation_p.V315I	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	427										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGGGGTTACAGTCTTTGAGGG	0.522																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1279-1281)Gtc>Atc		kelch-like family member 18							210.0	179.0	189.0					3																	47384261		2203	4300	6503	SO:0001583	missense	23276							g.chr3:47384261G>A	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1279G>A	3.37:g.47384261G>A	ENSP00000232766:p.Val427Ile					KLHL18_ENST00000455924.2_Missense_Mutation_p.V315I	p.V427I	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	9	1299	+		Acute lymphoblastic leukemia(5;0.164)	427					A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	c.1279G>A	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289432	0.59976	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	D;D	0.82803	-1.65;-1.65	5.5	3.71	0.42584	Galactose oxidase, beta-propeller (1);	0.064999	0.64402	N	0.000009	D	0.84483	0.5482	M	0.86097	2.795	0.58432	D	0.999999	B	0.29136	0.234	B	0.32677	0.15	T	0.83005	-0.0175	10	0.62326	D	0.03	.	11.822	0.52245	0.1228:0.0:0.8772:0.0	.	427	O94889	KLH18_HUMAN	I	427;315	ENSP00000232766:V427I;ENSP00000405585:V315I	ENSP00000232766:V427I	V	+	1	0	KLHL18	47359265	1.000000	0.71417	0.693000	0.30195	0.990000	0.78478	3.095000	0.50235	0.801000	0.34066	0.650000	0.86243	GTC		0.522	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		24	50	0	0	0	1	0	24	50				
CYP4F12	66002	broad.mit.edu	37	19	15791259	15791259	+	Missense_Mutation	SNP	C	C	T	rs369172315		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:15791259C>T	ENST00000550308.1	+	5	835	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.T152M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	152					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.T152M(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGGATGCTGACGCCCGCCTTC	0.542																																						ENST00000550308.1																			2	Substitution - Missense(2)	p.T152M(2)	lung(1)|endometrium(1)	NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(454-456)aCg>aTg		cytochrome P450, family 4, subfamily F, polypeptide 12		C	MET/THR	0,4406		0,0,2203	38.0	40.0	39.0		455	2.9	0.8	19		39	3,8597		0,3,4297	no	missense	CYP4F12	NM_023944.3	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	152/525	15791259	3,13003	2203	4300	6503	SO:0001583	missense	66002							g.chr19:15791259C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.455C>T	19.37:g.15791259C>T	ENSP00000448998:p.Thr152Met					CYP4F12_ENST00000324632.9_Missense_Mutation_p.T152M	p.T152M	NM_023944.3	NP_076433.3					5	835	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.455C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948280	0.34377	0.0	3.49E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70631	-0.5;-0.5	2.92	2.92	0.33932	.	0.000000	0.64402	U	0.000001	D	0.87317	0.6147	H	0.96430	3.82	0.53688	D	0.999974	D;D	0.89917	1.0;0.998	D;P	0.74023	0.982;0.906	D	0.90125	0.4202	10	0.72032	D	0.01	.	11.5983	0.50986	0.0:1.0:0.0:0.0	.	152;152	B4E270;Q9HCS2	.;CP4FC_HUMAN	M	152	ENSP00000448998:T152M;ENSP00000321821:T152M	ENSP00000321821:T152M	T	+	2	0	CYP4F12	15652259	0.997000	0.39634	0.800000	0.32199	0.013000	0.08279	4.050000	0.57404	1.625000	0.50366	0.491000	0.48974	ACG		0.542	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			4	36	0	0	0	1	0	4	36				
OR5H2	79310	broad.mit.edu	37	3	98001915	98001915	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:98001915A>G	ENST00000355273.2	+	1	184	c.184A>G	c.(184-186)Atc>Gtc	p.I62V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAACTTCACATCCCCATGTA	0.413																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(184-186)Atc>Gtc		olfactory receptor, family 5, subfamily H, member 2							331.0	309.0	317.0					3																	98001915		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001915A>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.184A>G	3.37:g.98001915A>G	ENSP00000347418:p.Ile62Val					RP11-325B23.2_ENST00000508616.1_lincRNA	p.I62V	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	184	+			62					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.184A>G	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	A	5.389	0.257053	0.10239	.	.	ENSG00000197938	ENST00000355273	T	0.00388	7.59	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.181253	0.26383	U	0.024691	T	0.00271	0.0008	N	0.25201	0.72	0.20403	N	0.999904	P	0.36577	0.558	B	0.39935	0.314	T	0.51694	-0.8673	10	0.72032	D	0.01	.	9.7235	0.40317	1.0:0.0:0.0:0.0	.	62	Q8NGV7	OR5H2_HUMAN	V	62	ENSP00000347418:I62V	ENSP00000347418:I62V	I	+	1	0	OR5H2	99484605	0.001000	0.12720	0.789000	0.31954	0.029000	0.11900	1.623000	0.37008	1.458000	0.47871	0.443000	0.29094	ATC		0.413	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			108	196	0	0	0	1	0	108	196				
PNMA3	29944	broad.mit.edu	37	X	152226071	152226071	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:152226071T>C	ENST00000370264.4	+	1	685	c.659T>C	c.(658-660)cTc>cCc	p.L220P	PNMA3_ENST00000370265.4_Missense_Mutation_p.L220P|PNMA3_ENST00000447306.1_Missense_Mutation_p.L220P			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	220					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gtcagtgggctccgggccagc	0.592																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(658-660)cTc>cCc		paraneoplastic Ma antigen 3							79.0	81.0	80.0					X																	152226071		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226071T>C	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.659T>C	X.37:g.152226071T>C	ENSP00000359286:p.Leu220Pro					PNMA3_ENST00000370264.4_Missense_Mutation_p.L220P|PNMA3_ENST00000370265.4_Missense_Mutation_p.L220P	p.L220P	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	995	+	Acute lymphoblastic leukemia(192;6.56e-05)		220					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.659T>C	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	t	12.56	1.974015	0.34848	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.14266	2.52;2.52;2.52	1.98	1.98	0.26296	.	.	.	.	.	T	0.31544	0.0800	M	0.75884	2.315	0.21064	N	0.999798	D	0.89917	1.0	D	0.83275	0.996	T	0.04427	-1.0952	9	0.56958	D	0.05	.	5.4244	0.16417	0.0:0.0:0.0:1.0	.	220	Q9UL41	PNMA3_HUMAN	P	220	ENSP00000359288:L220P;ENSP00000407642:L220P;ENSP00000359286:L220P	ENSP00000359286:L220P	L	+	2	0	PNMA3	151976727	0.247000	0.23920	0.006000	0.13384	0.008000	0.06430	1.926000	0.40084	1.055000	0.40461	0.378000	0.23410	CTC		0.592	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		8	219	0	0	0	1	0	8	219				
ADCY9	115	broad.mit.edu	37	16	4016491	4016491	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:4016491G>A	ENST00000294016.3	-	11	3885	c.3347C>T	c.(3346-3348)gCg>gTg	p.A1116V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1116	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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)|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)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCTGACGCCGCCATGTACGT	0.622																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3346-3348)gCg>gTg		adenylate cyclase 9							88.0	77.0	81.0					16																	4016491		2197	4300	6497	SO:0001583	missense	115				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	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016491G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3347C>T	16.37:g.4016491G>A	ENSP00000294016:p.Ala1116Val						p.A1116V	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	3885	-			1116			Guanylate cyclase 2.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3347C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024744	0.93518	.	.	ENSG00000162104	ENST00000294016	T	0.35048	1.33	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55829	-0.8079	10	0.87932	D	0	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	1116	O60503	ADCY9_HUMAN	V	1116	ENSP00000294016:A1116V	ENSP00000294016:A1116V	A	-	2	0	ADCY9	3956492	1.000000	0.71417	0.967000	0.41034	0.918000	0.54935	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GCG		0.622	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			8	118	0	0	0	1	0	8	118				
SLC9A2	6549	broad.mit.edu	37	2	103281660	103281660	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:103281660G>A	ENST00000233969.2	+	3	997	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	285					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAATCGGTGGGGTGCTGATTG	0.443																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(853-855)ggG>ggA		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							218.0	198.0	205.0					2																	103281660		2203	4300	6503	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103281660G>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.855G>A	2.37:g.103281660G>A							p.G285G	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			3	997	+			285					B2RMS2	Silent	SNP	ENST00000233969.2	37	c.855G>A	CCDS2062.1																																																																																				0.443	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			61	69	0	0	0	1	0	61	69				
CDC5L	988	broad.mit.edu	37	6	44387260	44387260	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr6:44387260G>C	ENST00000371477.3	+	9	1466	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	389	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATTGCATGAGAGTGACTTCT	0.438																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1165-1167)gaG>gaC		cell division cycle 5-like							161.0	141.0	148.0					6																	44387260		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44387260G>C	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1167G>C	6.37:g.44387260G>C	ENSP00000360532:p.Glu389Asp						p.E389D	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1466	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		389			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1167G>C	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052592	0.36181	.	.	ENSG00000096401	ENST00000371477	T	0.49432	0.78	5.57	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.45137	1.4	0.58432	D	0.999999	B	0.13594	0.008	B	0.18561	0.022	T	0.06534	-1.0821	10	0.23302	T	0.38	-19.9623	7.4271	0.27105	0.3178:0.0:0.6822:0.0	.	389	Q99459	CDC5L_HUMAN	D	389	ENSP00000360532:E389D	ENSP00000360532:E389D	E	+	3	2	CDC5L	44495238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	1.343000	0.45638	0.563000	0.77884	GAG		0.438	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			17	62	0	0	0	1	0	17	62				
HIPK4	147746	broad.mit.edu	37	19	40895408	40895408	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:40895408G>A	ENST00000291823.2	-	1	686	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGAGATCAGCGTGGATGATAG	0.627																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(400-402)caC>caT		homeodomain interacting protein kinase 4							60.0	57.0	58.0					19																	40895408		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40895408G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.402C>T	19.37:g.40895408G>A							p.H134H	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	686	-			134			Protein kinase.		A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.402C>T	CCDS12555.1																																																																																				0.627	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		4	30	0	0	0	1	0	4	30				
LATS2	26524	broad.mit.edu	37	13	21563346	21563346	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:21563346G>A	ENST00000382592.4	-	4	978	c.573C>T	c.(571-573)taC>taT	p.Y191Y	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.Y191Y	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGGCCCTCGTAGGGGGTAC	0.687																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(571-573)taC>taT		large tumor suppressor kinase 2							73.0	63.0	66.0					13																	21563346		2203	4299	6502	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21563346G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.573C>T	13.37:g.21563346G>A						LATS2_ENST00000542899.1_Silent_p.Y191Y|LATS2_ENST00000472754.1_5'UTR	p.Y191Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	978	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	191						Silent	SNP	ENST00000382592.4	37	c.573C>T	CCDS9294.1																																																																																				0.687	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			11	103	0	0	0	1	0	11	103				
BCL6	604	broad.mit.edu	37	3	187447676	187447676	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:187447676G>A	ENST00000406870.2	-	5	883	c.517C>T	c.(517-519)Cct>Tct	p.P173S	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P173S|BCL6_ENST00000450123.2_Missense_Mutation_p.P173S	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	173					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|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 isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TCACACCCAGGGGCGCTCCTC	0.602			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(517-519)Cct>Tct		B-cell CLL/lymphoma 6							74.0	73.0	73.0					3																	187447676		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447676G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.517C>T	3.37:g.187447676G>A	ENSP00000384371:p.Pro173Ser					RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P173S|BCL6_ENST00000450123.2_Missense_Mutation_p.P173S	p.P173S	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	883	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		173					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.517C>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113393	0.20795	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07908	3.16;3.16;3.15	5.1	5.1	0.69264	.	0.211314	0.50627	D	0.000115	T	0.06280	0.0162	N	0.17082	0.46	0.32129	N	0.586961	B;B	0.22003	0.063;0.006	B;B	0.17433	0.018;0.005	T	0.06463	-1.0825	10	0.41790	T	0.15	.	12.9239	0.58247	0.0:0.0:0.8379:0.1621	.	173;173	B8PSA7;P41182	.;BCL6_HUMAN	S	173	ENSP00000384371:P173S;ENSP00000232014:P173S;ENSP00000413122:P173S	ENSP00000232014:P173S	P	-	1	0	BCL6	188930370	0.998000	0.40836	0.997000	0.53966	0.769000	0.43574	0.819000	0.27308	2.539000	0.85634	0.561000	0.74099	CCT		0.602	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		6	139	0	0	0	1	0	6	139				
DCAF12L2	340578	broad.mit.edu	37	X	125299120	125299120	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:125299120C>T	ENST00000360028.2	-	1	814	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R263H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(787-789)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							38.0	43.0	41.0					X																	125299120		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299120C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.788G>A	X.37:g.125299120C>T	ENSP00000353128:p.Arg263His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	868	-			263					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.788G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	8.890	0.953815	0.18431	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63255	-0.03;-0.03	3.72	1.94	0.25998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.549990	0.13431	N	0.388455	T	0.52837	0.1759	L	0.57536	1.79	0.21697	N	0.999583	B	0.15719	0.014	B	0.10450	0.005	T	0.45308	-0.9270	10	0.40728	T	0.16	.	5.2143	0.15334	0.0:0.7235:0.0:0.2765	.	263	Q5VW00	DC122_HUMAN	H	263	ENSP00000441489:R263H;ENSP00000353128:R263H	ENSP00000353128:R263H	R	-	2	0	DCAF12L2	125126801	1.000000	0.71417	0.018000	0.16275	0.687000	0.40016	3.728000	0.54991	0.382000	0.24878	0.544000	0.68410	CGC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		5	91	0	0	0	1	0	5	91				
SDHC	6391	broad.mit.edu	37	1	161326623	161326623	+	Missense_Mutation	SNP	G	G	A	rs386833414		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:161326623G>A	ENST00000367975.2	+	5	547	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Missense_Mutation_p.R80Q|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.R99Q|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	133					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AATGGGATCCGACACTTGGTA	0.473			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		"""paraganglioma, pheochromocytoma"""			0				urinary_tract(1)	1						c.(397-399)cGa>cAa		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						123.0	116.0	118.0					1																	161326623		2203	4300	6503	SO:0001583	missense	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326623G>A	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.398G>A	1.37:g.161326623G>A	ENSP00000356953:p.Arg133Gln					SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000392169.2_Missense_Mutation_p.R80Q|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.R99Q|SDHC_ENST00000342751.4_Intron	p.R133Q	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	547	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		133					O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Missense_Mutation	SNP	ENST00000367975.2	37	c.398G>A	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.916551	0.92249	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	D;D;D	0.98012	-4.66;-4.66;-4.66	5.24	5.24	0.73138	Succinate dehydrogenase, cytochrome b subunit, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.96777	3.88	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99050	1.0827	9	0.87932	D	0	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	80;99;133	Q99643-5;Q99643-3;Q99643	.;.;C560_HUMAN	Q	133;99;80	ENSP00000356953:R133Q;ENSP00000390558:R99Q;ENSP00000376009:R80Q	ENSP00000356953:R133Q	R	+	2	0	SDHC	159593247	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	6.750000	0.74888	2.602000	0.87976	0.639000	0.83563	CGA		0.473	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001		4	92	0	0	0	1	0	4	92				
ASPHD2	57168	broad.mit.edu	37	22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547																																						ENST00000215906.5																			1	Substitution - Missense(1)	p.A243T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(805-807)Gcg>Acg		aspartate beta-hydroxylase domain containing 2							185.0	182.0	183.0					22																	26830386		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830386G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.805G>A	22.37:g.26830386G>A	ENSP00000215906:p.Ala269Thr						p.A269T	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	1243	+			269					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.805G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619616	0.87460	.	.	ENSG00000128203	ENST00000215906	T	0.44083	0.93	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75459	-0.3310	10	0.62326	D	0.03	-33.4365	17.0945	0.86631	0.0:0.0:1.0:0.0	.	269	Q6ICH7	ASPH2_HUMAN	T	269	ENSP00000215906:A269T	ENSP00000215906:A269T	A	+	1	0	ASPHD2	25160386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	GCG		0.547	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		6	199	0	0	0	1	0	6	199				
PPP1R3F	89801	broad.mit.edu	37	X	49126932	49126932	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:49126932G>A	ENST00000055335.6	+	1	616	c.600G>A	c.(598-600)ccG>ccA	p.P200P	PPP1R3F_ENST00000495799.1_Intron|LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000438316.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	200	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCTACGTCCCGCGCAGCCCGC	0.706																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(598-600)ccG>ccA		protein phosphatase 1, regulatory subunit 3F							9.0	10.0	9.0					X																	49126932		2084	4095	6179	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49126932G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.600G>A	X.37:g.49126932G>A						PPP1R3F_ENST00000438316.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000495799.1_Intron	p.P200P	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			1	616	+	Ovarian(276;0.236)		200			CBM21.		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.600G>A	CCDS35254.1																																																																																				0.706	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		21	21	0	0	0	1	0	21	21				
COL27A1	85301	broad.mit.edu	37	9	116931263	116931263	+	Silent	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:116931263C>T	ENST00000356083.3	+	3	1819	c.1428C>T	c.(1426-1428)acC>acT	p.T476T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	476	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGCCCGCACCAGCACCCACA	0.567																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1426-1428)acC>acT		collagen, type XXVII, alpha 1							160.0	186.0	177.0					9																	116931263		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931263C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1428C>T	9.37:g.116931263C>T							p.T476T	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	1819	+			476			Pro-rich.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.1428C>T	CCDS6802.1																																																																																				0.567	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		134	191	0	0	0	1	0	134	191				
SETD3	84193	broad.mit.edu	37	14	99865139	99865139	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:99865139G>A	ENST00000331768.5	-	13	1821	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	554					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AGTTTTCACCGTTTACAAGCC	0.468																																						ENST00000331768.5																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1660-1662)aaC>aaT		SET domain containing 3							273.0	234.0	247.0					14																	99865139		2203	4300	6503	SO:0001819	synonymous_variant	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865139G>A	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1662C>T	14.37:g.99865139G>A							p.N554N	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN			13	1821	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	554					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	ENST00000331768.5	37	c.1662C>T	CCDS9951.1																																																																																				0.468	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		4	145	0	0	0	1	0	4	145				
ITPR2	3709	broad.mit.edu	37	12	26639240	26639240	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:26639240C>G	ENST00000381340.3	-	41	6024	c.5608G>C	c.(5608-5610)Gct>Cct	p.A1870P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1870					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCTGAAGAAGCTTCTGTTAAT	0.363																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(5608-5610)Gct>Cct		inositol 1,4,5-trisphosphate receptor, type 2							177.0	164.0	168.0					12																	26639240		1867	4093	5960	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26639240C>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5608G>C	12.37:g.26639240C>G	ENSP00000370744:p.Ala1870Pro						p.A1870P	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			41	6024	-	Colorectal(261;0.0847)		1870					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5608G>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676676	0.88445	.	.	ENSG00000123104	ENST00000381340	D	0.92752	-3.1	4.92	4.92	0.64577	.	0.115347	0.64402	D	0.000016	D	0.92427	0.7596	M	0.67700	2.07	0.80722	D	1	P	0.50617	0.937	P	0.46110	0.504	D	0.92783	0.6242	10	0.49607	T	0.09	.	18.3171	0.90225	0.0:1.0:0.0:0.0	.	1870	Q14571	ITPR2_HUMAN	P	1870	ENSP00000370744:A1870P	ENSP00000370744:A1870P	A	-	1	0	ITPR2	26530507	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.200000	0.77838	2.550000	0.86006	0.655000	0.94253	GCT		0.363	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	45	0	0	0	1	0	12	45				
CHRNA1	1134	broad.mit.edu	37	2	175613522	175613522	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:175613522A>G	ENST00000261007.5	-	9	1169	c.1103T>C	c.(1102-1104)aTc>aCc	p.I368T	CHRNA1_ENST00000348749.5_Missense_Mutation_p.I343T|CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.I261T	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	368					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GAAAAACATGATATTTGGGAT	0.348											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(1027-1029)aTc>aCc		cholinergic receptor, nicotinic, alpha 1 (muscle)							97.0	93.0	94.0					2																	175613522		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175613522A>G	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1103T>C	2.37:g.175613522A>G	ENSP00000261007:p.Ile368Thr		OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924	CHRNA1_ENST00000261007.5_Missense_Mutation_p.I368T|CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.I261T	p.I343T	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			8	1105	-			368					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.1028T>C	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313102	0.60414	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542	D;D;D	0.85861	-2.04;-2.04;-2.04	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.232408	0.50627	D	0.000109	D	0.87241	0.6128	M	0.78456	2.415	0.80722	D	1	B;P	0.35575	0.143;0.51	B;B	0.39339	0.112;0.297	D	0.88337	0.2972	10	0.72032	D	0.01	.	15.924	0.79597	1.0:0.0:0.0:0.0	.	343;368	Q53SH4;P02708	.;ACHA_HUMAN	T	343;368;261	ENSP00000261008:I343T;ENSP00000261007:I368T;ENSP00000387026:I261T	ENSP00000261007:I368T	I	-	2	0	CHRNA1	175321768	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.287000	0.95975	2.217000	0.71921	0.533000	0.62120	ATC		0.348	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			28	30	0	0	0	1	0	28	30				
TBPL2	387332	broad.mit.edu	37	14	55907119	55907119	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:55907119C>T	ENST00000247219.5	-	1	215	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTCACCTGAGCGGCGCACTGG	0.622																																						ENST00000247219.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(145-147)Gct>Act		TATA box binding protein like 2							39.0	40.0	40.0					14																	55907119		2110	4136	6246	SO:0001583	missense	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55907119C>T	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.145G>A	14.37:g.55907119C>T	ENSP00000247219:p.Ala49Thr						p.A49T	NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN			1	215	-			49						Missense_Mutation	SNP	ENST00000247219.5	37	c.145G>A	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	C	7.832	0.720018	0.15372	.	.	ENSG00000182521	ENST00000247219	T	0.44482	0.92	5.12	1.77	0.24775	.	0.953359	0.08743	N	0.900274	T	0.36166	0.0957	L	0.47716	1.5	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.29882	-0.9997	10	0.44086	T	0.13	0.3082	9.4559	0.38753	0.0:0.6697:0.0:0.3303	.	49	Q6SJ96	TBPL2_HUMAN	T	49	ENSP00000247219:A49T	ENSP00000247219:A49T	A	-	1	0	TBPL2	54976872	0.001000	0.12720	0.317000	0.25265	0.073000	0.16967	0.225000	0.17757	0.552000	0.29026	0.462000	0.41574	GCT		0.622	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		6	116	0	0	0	1	0	6	116				
PLAC1	10761	broad.mit.edu	37	X	133700590	133700590	+	Silent	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:133700590G>C	ENST00000359237.4	-	3	408	c.123C>G	c.(121-123)ccC>ccG	p.P41P	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATGAAGGGGTGCACTG	0.517																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(121-123)ccC>ccG		placenta-specific 1							227.0	200.0	209.0					X																	133700590		2203	4300	6503	SO:0001819	synonymous_variant	10761				placenta development	extracellular region		g.chrX:133700590G>C	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.123C>G	X.37:g.133700590G>C						PLAC1_ENST00000476971.1_5'UTR	p.P41P	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	408	-	Acute lymphoblastic leukemia(192;0.000127)		41						Silent	SNP	ENST00000359237.4	37	c.123C>G	CCDS14642.1																																																																																				0.517	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		129	172	0	0	0	1	0	129	172				
SRBD1	55133	broad.mit.edu	37	2	45774700	45774700	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:45774700C>T	ENST00000263736.4	-	13	1789	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.R95Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	576					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCCGCCTCTCGGAAGCCTTG	0.333																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1726-1728)cGa>cAa		S1 RNA binding domain 1							66.0	65.0	66.0					2																	45774700		2203	4299	6502	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45774700C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1727G>A	2.37:g.45774700C>T	ENSP00000263736:p.Arg576Gln					SRBD1_ENST00000535761.1_Missense_Mutation_p.R95Q	p.R576Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		13	1789	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	576					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1727G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577650	0.45902	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.39997	1.05;1.05	5.24	3.43	0.39272	YqgF/RNase H-like domain (2);	0.204155	0.41500	N	0.000866	T	0.28433	0.0703	L	0.31065	0.9	0.35119	D	0.766877	B	0.16802	0.019	B	0.08055	0.003	T	0.21690	-1.0238	10	0.44086	T	0.13	.	8.1694	0.31245	0.0:0.6937:0.0:0.3063	.	576	Q8N5C6	SRBD1_HUMAN	Q	576;95	ENSP00000263736:R576Q;ENSP00000441272:R95Q	ENSP00000263736:R576Q	R	-	2	0	SRBD1	45628204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.055000	0.30467	0.685000	0.31468	0.655000	0.94253	CGA		0.333	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		21	27	0	0	0	1	0	21	27				
PAK7	57144	broad.mit.edu	37	20	9561502	9561502	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:9561502C>T	ENST00000378429.3	-	5	826	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	PAK7_ENST00000353224.5_Missense_Mutation_p.V94M|PAK7_ENST00000378423.1_Missense_Mutation_p.V94M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	94	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGCGAGTCACCGAGATGTTG	0.517																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(280-282)Gtg>Atg		p21 protein (Cdc42/Rac)-activated kinase 7							122.0	122.0	122.0					20																	9561502		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561502C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.280G>A	20.37:g.9561502C>T	ENSP00000367686:p.Val94Met					PAK7_ENST00000353224.5_Missense_Mutation_p.V94M|PAK7_ENST00000378423.1_Missense_Mutation_p.V94M	p.V94M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	826	-			94			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.280G>A	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864803	0.91511	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.47528	0.84;0.84;0.84	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68930	-0.5279	9	.	.	.	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	94;94	B0AZM9;Q9P286	.;PAK7_HUMAN	M	94;94;94;42	ENSP00000367686:V94M;ENSP00000322957:V94M;ENSP00000367679:V94M	.	V	-	1	0	PAK7	9509502	1.000000	0.71417	0.960000	0.40013	0.974000	0.67602	7.814000	0.86154	2.744000	0.94065	0.655000	0.94253	GTG		0.517	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			82	132	0	0	0	1	0	82	132				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	36	0	0	0	1	0	26	36				
TPST1	8460	broad.mit.edu	37	7	65705779	65705779	+	Missense_Mutation	SNP	C	C	T	rs377712883		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr7:65705779C>T	ENST00000304842.5	+	2	792	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGAAGATCCGCCTGGATGA	0.512																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)Cgc>Tgc		tyrosylprotein sulfotransferase 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	110.0	111.0		367	5.8	1.0	7		111	0,8600		0,0,4300	no	missense	TPST1	NM_003596.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	123/371	65705779	1,13005	2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705779C>T	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.367C>T	7.37:g.65705779C>T	ENSP00000302413:p.Arg123Cys					TPST1_ENST00000480281.1_Intron	p.R123C	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	792	+			123					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.367C>T	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189657	0.78789	2.27E-4	0.0	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.86877	0.2039	9	0.56958	D	0.05	-12.2145	13.9123	0.63876	0.152:0.848:0.0:0.0	.	123;123	F5H7U7;O60507	.;TPST1_HUMAN	C	123	.	ENSP00000302413:R123C	R	+	1	0	TPST1	65343214	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.692000	0.47018	2.723000	0.93209	0.585000	0.79938	CGC		0.512	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		29	42	0	0	0	1	0	29	42				
SPTB	6710	broad.mit.edu	37	14	65260496	65260496	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:65260496G>A	ENST00000389721.5	-	13	1917	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	SPTB_ENST00000389722.3_Missense_Mutation_p.R629W|SPTB_ENST00000556626.1_Missense_Mutation_p.R629W|SPTB_ENST00000542895.1_Missense_Mutation_p.R629W|SPTB_ENST00000389720.3_Missense_Mutation_p.R629W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	629				RKA -> ART (in Ref. 1; AAA60578/ AAA60579). {ECO:0000305}.	actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCCTTCCGCCCAGCTGCC	0.552																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(1885-1887)Cgg>Tgg		spectrin, beta, erythrocytic							51.0	47.0	49.0					14																	65260496		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260496G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1885C>T	14.37:g.65260496G>A	ENSP00000374371:p.Arg629Trp					SPTB_ENST00000556626.1_Missense_Mutation_p.R629W|SPTB_ENST00000542895.1_Missense_Mutation_p.R629W|SPTB_ENST00000389720.3_Missense_Mutation_p.R629W|SPTB_ENST00000389721.5_Missense_Mutation_p.R629W	p.R629W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	1938	-		all_lung(585;4.15e-09)	629	RKA -> ART (in Ref. 1; AAA60578/ AAA60579).				Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1885C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535411	0.64972	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.32	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.81664	0.4870	M	0.92412	3.305	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84767	0.0765	10	0.87932	D	0	.	10.291	0.43596	0.0:0.0:0.6147:0.3853	.	629;633	P11277;Q59FP5	SPTB1_HUMAN;.	W	633;629;629;629;629;629	ENSP00000374372:R629W;ENSP00000451752:R629W;ENSP00000374371:R629W;ENSP00000443882:R629W;ENSP00000374370:R629W	ENSP00000374370:R629W	R	-	1	2	SPTB	64330249	0.993000	0.37304	0.965000	0.40720	0.940000	0.58332	1.733000	0.38156	2.494000	0.84150	0.561000	0.74099	CGG		0.552	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			4	74	0	0	0	1	0	4	74				
UQCRC1	7384	broad.mit.edu	37	3	48636583	48636583	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48636583C>T	ENST00000203407.5	-	13	1837	c.1421G>A	c.(1420-1422)gGc>gAc	p.G474D		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	474					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAGAACATGCCGCTACGGAT	0.637																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1420-1422)gGc>gAc		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						104.0	103.0	103.0					3																	48636583		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48636583C>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1421G>A	3.37:g.48636583C>T	ENSP00000203407:p.Gly474Asp						p.G474D	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	13	1837	-			474					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1421G>A	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.331430	0.24167	.	.	ENSG00000010256	ENST00000203407	T	0.49139	0.79	5.23	5.23	0.72850	Peptidase M16, core (1);	0.046832	0.85682	D	0.000000	T	0.50633	0.1627	L	0.33093	0.98	0.40674	D	0.982246	P;D	0.89917	0.877;1.0	B;D	0.63381	0.393;0.914	T	0.38351	-0.9665	10	0.09084	T	0.74	-32.6735	13.8753	0.63648	0.0:0.7191:0.2809:0.0	.	359;474	B4DUL5;P31930	.;QCR1_HUMAN	D	474	ENSP00000203407:G474D	ENSP00000203407:G474D	G	-	2	0	UQCRC1	48611587	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.070000	0.41491	2.414000	0.81942	0.457000	0.33378	GGC		0.637	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		4	185	0	0	0	1	0	4	185				
RNF31	55072	broad.mit.edu	37	14	24619441	24619441	+	Silent	SNP	A	A	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619441A>T	ENST00000324103.6	+	7	1301	c.981A>T	c.(979-981)cgA>cgT	p.R327R	RNF31_ENST00000559275.1_Silent_p.R176R|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Silent_p.R176R	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	327	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ATCGGCCCCGAGGCTGTAAGG	0.607																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(979-981)cgA>cgT		ring finger protein 31							55.0	60.0	59.0					14																	24619441		1957	4147	6104	SO:0001819	synonymous_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619441A>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.981A>T	14.37:g.24619441A>T						RNF31_ENST00000559275.1_Silent_p.R176R|RNF31_ENST00000382687.3_Silent_p.R176R	p.R327R	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	7	1301	+			327			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	c.981A>T	CCDS41931.1																																																																																				0.607	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		31	48	0	0	0	1	0	31	48				
MYO3A	53904	broad.mit.edu	37	10	26500781	26500781	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:26500781G>A	ENST00000265944.5	+	35	4906	c.4740G>A	c.(4738-4740)gcG>gcA	p.A1580A	MYO3A_ENST00000543632.1_Missense_Mutation_p.G596S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1580					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTGCTGGGCGGCGGAGAGCC	0.662																																						ENST00000543632.1																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1786-1788)Ggc>Agc		myosin IIIA							41.0	46.0	45.0					10																	26500781		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500781G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4740G>A	10.37:g.26500781G>A						MYO3A_ENST00000265944.5_Silent_p.A1580A	p.G596S			Q8NEV4	MYO3A_HUMAN			17	1846	+			0			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1786G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607023	0.46527	.	.	ENSG00000095777	ENST00000543632	T	0.75367	-0.93	4.4	-0.958	0.10347	.	.	.	.	.	T	0.40645	0.1125	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.34527	-0.9825	8	0.02654	T	1	.	1.4101	0.02289	0.2173:0.1059:0.3708:0.306	.	596	F5H0U9	.	S	596	ENSP00000445909:G596S	ENSP00000445909:G596S	G	+	1	0	MYO3A	26540787	0.009000	0.17119	0.381000	0.26106	0.814000	0.46013	0.004000	0.13106	0.008000	0.14787	0.462000	0.41574	GGC		0.662	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		13	43	0	0	0	1	0	13	43				
NUTM1	256646	broad.mit.edu	37	15	34640764	34640764	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:34640764C>T	ENST00000333756.4	+	2	766	c.611C>T	c.(610-612)tCc>tTc	p.S204F	NUTM1_ENST00000438749.3_Missense_Mutation_p.S222F|NUTM1_ENST00000537011.1_Missense_Mutation_p.S232F	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	204						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGTGACCGCTCCAAAATTTCC	0.562																																						ENST00000537011.1																			0											c.(694-696)tCc>tTc		NUT midline carcinoma, family member 1							48.0	50.0	49.0					15																	34640764		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640764C>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.611C>T	15.37:g.34640764C>T	ENSP00000329448:p.Ser204Phe					NUTM1_ENST00000333756.4_Missense_Mutation_p.S204F|NUTM1_ENST00000438749.3_Missense_Mutation_p.S222F	p.S232F							3	1077	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.695C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	8.995	0.978563	0.18812	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.25749	1.78;1.78;1.78	5.69	4.78	0.61160	Nuclear Testis  protein, N-terminal (1);	0.463681	0.20479	N	0.091531	T	0.30386	0.0763	M	0.67953	2.075	0.32339	N	0.559985	B;B;B	0.26512	0.151;0.047;0.125	B;B;B	0.29598	0.09;0.032;0.104	T	0.40232	-0.9574	10	0.56958	D	0.05	.	11.9374	0.52880	0.0:0.9185:0.0:0.0815	.	222;232;204	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	F	232;222;204;204	ENSP00000444896:S232F;ENSP00000407031:S222F;ENSP00000329448:S204F	ENSP00000329448:S204F	S	+	2	0	C15orf55	32428056	0.994000	0.37717	0.442000	0.26870	0.047000	0.14425	2.606000	0.46291	1.421000	0.47157	0.655000	0.94253	TCC		0.562	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		5	66	0	0	0	1	0	5	66				
SLC12A7	10723	broad.mit.edu	37	5	1081825	1081825	+	Silent	SNP	C	C	T	rs138705098		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:1081825C>T	ENST00000264930.5	-	9	1207	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	388					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)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCCACAAACGCCCCCGCGT	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16120	0.0		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1162-1164)gcG>gcA		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	C		1,4401	4.2+/-10.8	0,1,2200	81.0	76.0	78.0		1164	-3.1	0.0	5	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		388/1084	1081825	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1081825C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1164G>A	5.37:g.1081825C>T							p.A388A	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		9	1207	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		388					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1164G>A	CCDS34129.1																																																																																				0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		8	68	0	0	0	1	0	8	68				
F2	2147	broad.mit.edu	37	11	46747678	46747678	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr11:46747678G>C	ENST00000311907.5	+	7	885	c.829G>C	c.(829-831)Gcc>Ccc	p.A277P	F2_ENST00000530231.1_Missense_Mutation_p.A277P	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	277	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GTGCTATGTGGCCGGGAAGCC	0.597																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(829-831)Gcc>Ccc		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						76.0	88.0	84.0					11																	46747678		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46747678G>C	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.829G>C	11.37:g.46747678G>C	ENSP00000308541:p.Ala277Pro					F2_ENST00000530231.1_Missense_Mutation_p.A277P	p.A277P	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	7	885	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	277			Kringle 2.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.829G>C	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891614	0.33442	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.67865	-0.29;-0.29;-0.29	5.37	4.44	0.53790	Kringle (4);Kringle-like fold (1);	0.749252	0.13221	N	0.404377	T	0.72350	0.3449	M	0.62723	1.935	0.26178	N	0.979761	P	0.45428	0.858	P	0.49387	0.609	T	0.65166	-0.6234	10	0.87932	D	0	.	13.0778	0.59097	0.0:0.0:0.6918:0.3082	.	277	P00734	THRB_HUMAN	P	277;277;267	ENSP00000308541:A277P;ENSP00000433907:A277P;ENSP00000387413:A267P	ENSP00000308541:A277P	A	+	1	0	F2	46704254	0.722000	0.28017	0.726000	0.30738	0.331000	0.28603	1.949000	0.40313	1.216000	0.43427	0.563000	0.77884	GCC		0.597	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			7	125	0	0	0	1	0	7	125				
RNF31	55072	broad.mit.edu	37	14	24619440	24619440	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619440G>T	ENST00000324103.6	+	7	1300	c.980G>T	c.(979-981)cGa>cTa	p.R327L	RNF31_ENST00000559275.1_Missense_Mutation_p.R176L|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.R176L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	327	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATCGGCCCCGAGGCTGTAAG	0.607																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(979-981)cGa>cTa		ring finger protein 31							54.0	60.0	58.0					14																	24619440		1956	4145	6101	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619440G>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.980G>T	14.37:g.24619440G>T	ENSP00000315112:p.Arg327Leu					RNF31_ENST00000559275.1_Missense_Mutation_p.R176L|RNF31_ENST00000382687.3_Missense_Mutation_p.R176L	p.R327L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	7	1300	+			327			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.980G>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016307	0.75161	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.54279	0.58;0.58	5.36	4.46	0.54185	Zinc finger, RanBP2-type (1);	0.078912	0.51477	D	0.000093	T	0.64571	0.2610	L	0.52573	1.65	0.44201	D	0.997023	D;P;P	0.69078	0.997;0.845;0.904	D;B;P	0.69654	0.965;0.354;0.674	T	0.67604	-0.5628	10	0.87932	D	0	-1.9713	12.2106	0.54377	0.0843:0.0:0.9157:0.0	.	142;327;176	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	L	327;176	ENSP00000315112:R327L;ENSP00000372134:R176L	ENSP00000315112:R327L	R	+	2	0	RNF31	23689280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.394000	0.59671	1.462000	0.47948	0.655000	0.94253	CGA		0.607	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		31	47	1	0	1.88708e-17	1	1.99975e-17	31	47				
PDHA1	5160	broad.mit.edu	37	X	19368154	19368154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:19368154C>T	ENST00000422285.2	+	3	322	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PDHA1_ENST00000379805.3_Nonsense_Mutation_p.R73*|PDHA1_ENST00000379806.5_Nonsense_Mutation_p.R111*|PDHA1_ENST00000540249.1_Nonsense_Mutation_p.R73*|PDHA1_ENST00000545074.1_Nonsense_Mutation_p.R73*			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	73					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GACTGTACGCCGAATGGAGTT	0.483																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(331-333)Cga>Tga		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						247.0	195.0	212.0					X																	19368154		2203	4300	6503	SO:0001587	stop_gained	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19368154C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.217C>T	X.37:g.19368154C>T	ENSP00000394382:p.Arg73*					PDHA1_ENST00000379805.3_Nonsense_Mutation_p.R73*|PDHA1_ENST00000540249.1_Nonsense_Mutation_p.R73*|PDHA1_ENST00000422285.2_Nonsense_Mutation_p.R73*|PDHA1_ENST00000545074.1_Nonsense_Mutation_p.R73*	p.R111*	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			4	476	+	Hepatocellular(33;0.183)		73					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Nonsense_Mutation	SNP	ENST00000422285.2	37	c.331C>T	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972389	0.92919	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000417819;ENST00000422285;ENST00000355808;ENST00000379815;ENST00000379805	.	.	.	5.17	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2387	14.379	0.66900	0.149:0.851:0.0:0.0	.	.	.	.	X	111;73;73;111;101;73;73;101;73	.	ENSP00000348062:R73X	R	+	1	2	PDHA1	19278075	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.517000	0.60503	1.038000	0.40049	0.600000	0.82982	CGA		0.483	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			7	145	0	0	0	1	0	7	145				
SPANXD	64648	broad.mit.edu	37	X	140785691	140785691	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:140785691G>T	ENST00000370515.3	-	2	558	c.225C>A	c.(223-225)aaC>aaA	p.N75K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	75						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GGTTGATTCTGTTCTTTCGGG	0.443																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(223-225)aaC>aaA		SPANX family, member D							210.0	183.0	192.0					X																	140785691		2199	4272	6471	SO:0001583	missense	64648							g.chrX:140785691G>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.225C>A	X.37:g.140785691G>T	ENSP00000359546:p.Asn75Lys						p.N75K	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	558	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.225C>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	8.571	0.880046	0.17467	.	.	ENSG00000196406	ENST00000370515	T	0.14516	2.5	.	.	.	.	.	.	.	.	T	0.28234	0.0697	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.08351	-1.0726	6	0.49607	T	0.09	.	.	.	.	.	75	Q9BXN6	SPNXD_HUMAN	K	75	ENSP00000359546:N75K	ENSP00000359546:N75K	N	-	3	2	SPANXD	140613357	0.018000	0.18449	0.011000	0.14972	0.011000	0.07611	0.075000	0.14686	0.068000	0.16574	0.068000	0.15388	AAC		0.443	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			22	335	1	0	2.27525e-19	1	2.44762e-19	22	335				
PHKB	5257	broad.mit.edu	37	16	47730353	47730353	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:47730353C>A	ENST00000323584.5	+	29	2981	c.2957C>A	c.(2956-2958)aCg>aAg	p.T986K	PHKB_ENST00000455779.1_Missense_Mutation_p.T979K|PHKB_ENST00000566044.1_Missense_Mutation_p.T979K|PHKB_ENST00000299167.8_Missense_Mutation_p.T986K	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	986					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTGAAGACACGTTGGGAAAT	0.408																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2935-2937)aCg>aAg		phosphorylase kinase, beta							133.0	116.0	122.0					16																	47730353		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47730353C>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2957C>A	16.37:g.47730353C>A	ENSP00000313504:p.Thr986Lys					PHKB_ENST00000323584.5_Missense_Mutation_p.T986K|PHKB_ENST00000566044.1_Missense_Mutation_p.T979K|PHKB_ENST00000299167.8_Missense_Mutation_p.T986K	p.T979K			Q93100	KPBB_HUMAN			30	3121	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	986					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2936C>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076135	0.36662	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	T;T	0.68181	-0.31;-0.31	5.55	3.3	0.37823	.	0.282154	0.43747	D	0.000524	T	0.57227	0.2039	L	0.53249	1.67	0.43226	D	0.995114	B;B;B	0.34313	0.448;0.029;0.03	B;B;B	0.26770	0.04;0.073;0.038	T	0.56450	-0.7977	10	0.72032	D	0.01	-8.2061	10.9116	0.47112	0.0:0.0868:0.0:0.9132	.	227;986;979	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	K	979;979;986	ENSP00000414345:T979K;ENSP00000313504:T986K	ENSP00000299167:T979K	T	+	2	0	PHKB	46287854	1.000000	0.71417	0.719000	0.30619	0.403000	0.30841	4.789000	0.62446	0.415000	0.25817	-0.142000	0.14014	ACG		0.408	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			14	53	1	0	2.61681e-11	1	2.69266e-11	14	53				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		6	31	0	0	0	1	0	6	31				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	103	0	0	0	1	0	8	103				
TAS1R2	80834	broad.mit.edu	37	1	19168269	19168269	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:19168269G>A	ENST00000375371.3	-	5	1566	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	515					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGCACTCGAAGCAGCAGA	0.597																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1543-1545)ttC>ttT		taste receptor, type 1, member 2	Aspartame(DB00168)						145.0	111.0	122.0					1																	19168269		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19168269G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1545C>T	1.37:g.19168269G>A							p.F515F	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	1566	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	515					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1545C>T	CCDS187.1																																																																																				0.597	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			24	40	0	0	0	1	0	24	40				
SSTR4	6754	broad.mit.edu	37	20	23016949	23016949	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:23016949G>A	ENST00000255008.3	+	1	893	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	277					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCTTTCTACGTGGTGCAGCT	0.587																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(829-831)Gtg>Atg		somatostatin receptor 4							205.0	211.0	209.0					20																	23016949		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016949G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.829G>A	20.37:g.23016949G>A	ENSP00000255008:p.Val277Met					RP4-753D10.3_ENST00000440921.1_RNA	p.V277M	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	893	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		277					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.829G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158219	0.38119	.	.	ENSG00000132671	ENST00000255008	T	0.74106	-0.81	3.36	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.103213	0.39687	U	0.001293	T	0.74974	0.3787	M	0.77616	2.38	0.34610	D	0.717462	P	0.39250	0.665	B	0.43889	0.435	T	0.82100	-0.0624	10	0.56958	D	0.05	.	7.6455	0.28318	0.1218:0.0:0.8782:0.0	.	277	P31391	SSR4_HUMAN	M	277	ENSP00000255008:V277M	ENSP00000255008:V277M	V	+	1	0	SSTR4	22964949	0.373000	0.25073	0.949000	0.38748	0.684000	0.39900	0.644000	0.24766	1.694000	0.51137	0.655000	0.94253	GTG		0.587	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			5	114	0	0	0	1	0	5	114				
SMAD6	4091	broad.mit.edu	37	15	67073541	67073541	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:67073541A>T	ENST00000288840.5	+	4	2190	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	SMAD6_ENST00000338426.4_Missense_Mutation_p.I126F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	387	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						GCGCAGCAAGATCGGCTTCGG	0.672																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.(1159-1161)Atc>Ttc		SMAD family member 6							32.0	29.0	30.0					15																	67073541		2200	4298	6498	SO:0001583	missense	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073541A>T	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1159A>T	15.37:g.67073541A>T	ENSP00000288840:p.Ile387Phe					SMAD6_ENST00000338426.4_Missense_Mutation_p.I126F	p.I387F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN			4	2190	+			387			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	c.1159A>T	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794117	0.90453	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.99429	-5.89;-5.17	5.62	5.62	0.85841	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97554	1.0094	10	0.87932	D	0	.	15.8133	0.78581	1.0:0.0:0.0:0.0	.	126;387	O43541-2;O43541	.;SMAD6_HUMAN	F	387;126	ENSP00000288840:I387F;ENSP00000345054:I126F	ENSP00000288840:I387F	I	+	1	0	SMAD6	64860595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.141000	0.66446	0.402000	0.26972	ATC		0.672	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		4	36	0	0	0	1	0	4	36				
DCN	1634	broad.mit.edu	37	12	91546926	91546926	+	Silent	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:91546926G>A	ENST00000052754.5	-	6	1194	c.693C>T	c.(691-693)aaC>aaT	p.N231N	DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Silent_p.N122N|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Silent_p.N84N|DCN_ENST00000228329.5_Silent_p.N122N|DCN_ENST00000552962.1_Silent_p.N231N|DCN_ENST00000393155.1_Silent_p.N231N|DCN_ENST00000425043.1_Silent_p.N84N|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	231					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGCTGATTTTGTTGCCATCAA	0.358																																						ENST00000052754.5																			0				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(691-693)aaC>aaT		decorin							144.0	136.0	139.0					12																	91546926		2203	4300	6503	SO:0001819	synonymous_variant	1634				organ morphogenesis	extracellular space		g.chr12:91546926G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.693C>T	12.37:g.91546926G>A						DCN_ENST00000552962.1_Silent_p.N231N|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Silent_p.N84N|DCN_ENST00000393155.1_Silent_p.N231N|DCN_ENST00000420120.2_Silent_p.N122N|DCN_ENST00000228329.5_Silent_p.N122N|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Silent_p.N84N|DCN_ENST00000456569.2_Intron	p.N231N	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			6	1194	-			231					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	c.693C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	9.695	1.152850	0.21371	.	.	ENSG00000011465	ENST00000550758	.	.	.	5.33	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5199	0.44912	0.1641:0.0:0.8359:0.0	.	.	.	.	X	1	.	.	Q	-	1	0	DCN	90071057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.118000	0.57884	0.576000	0.29452	-0.229000	0.12294	CAA		0.358	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		8	77	0	0	0	1	0	8	77				
CDH6	1004	broad.mit.edu	37	5	31323107	31323107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:31323107C>T	ENST00000265071.2	+	12	2330	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	689					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACAAATTACGAAGGGACAT	0.502																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2065-2067)Cga>Tga		cadherin 6, type 2, K-cadherin (fetal kidney)							89.0	82.0	84.0					5																	31323107		2203	4300	6503	SO:0001587	stop_gained	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323107C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2065C>T	5.37:g.31323107C>T	ENSP00000265071:p.Arg689*						p.R689*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2330	+			689					A8K5H5|Q9BWS0	Nonsense_Mutation	SNP	ENST00000265071.2	37	c.2065C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	40	8.383210	0.98786	.	.	ENSG00000113361	ENST00000265071	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8024	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	X	689	.	ENSP00000265071:R689X	R	+	1	2	CDH6	31358864	1.000000	0.71417	0.955000	0.39395	0.845000	0.48019	2.358000	0.44134	2.752000	0.94435	0.655000	0.94253	CGA		0.502	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		6	56	0	0	0	1	0	6	56				
ABCD2	225	broad.mit.edu	37	12	39947886	39947886	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:39947886C>T	ENST00000308666.3	-	10	2186	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	684	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R684H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTTCAAAGCGCCAACCTCC	0.348																																						ENST00000308666.3																			2	Substitution - Missense(2)	p.R684H(2)	lung(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2050-2052)cGc>cAc		ATP-binding cassette, sub-family D (ALD), member 2							101.0	99.0	99.0					12																	39947886		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947886C>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2051G>A	12.37:g.39947886C>T	ENSP00000310688:p.Arg684His						p.R684H	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			10	2186	-			684			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.2051G>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651274	0.29336	.	.	ENSG00000173208	ENST00000308666	D	0.94650	-3.48	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.059794	0.64402	D	0.000002	D	0.91240	0.7239	L	0.46157	1.445	0.47374	D	0.999407	B	0.16166	0.016	B	0.13407	0.009	D	0.87211	0.2247	9	.	.	.	1.7877	14.2213	0.65828	0.0:0.925:0.0:0.075	.	684	Q9UBJ2	ABCD2_HUMAN	H	684	ENSP00000310688:R684H	.	R	-	2	0	ABCD2	38234153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.855000	0.55957	2.535000	0.85469	0.655000	0.94253	CGC		0.348	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		3	38	0	0	0	1	0	3	38				
NAT8L	339983	broad.mit.edu	37	4	2065803	2065803	+	Silent	SNP	C	C	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:2065803C>G	ENST00000423729.2	+	3	858	c.858C>G	c.(856-858)ctC>ctG	p.L286L	NAT8L_ENST00000331662.3_Silent_p.L118L	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	286					metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGAGCGCCTCTTCTTCCAGG	0.711																																						ENST00000423729.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(856-858)ctC>ctG		N-acetyltransferase 8-like (GCN5-related, putative)							25.0	21.0	23.0					4																	2065803		2198	4295	6493	SO:0001819	synonymous_variant	339983					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity	g.chr4:2065803C>G	AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.858C>G	4.37:g.2065803C>G						NAT8L_ENST00000331662.3_Silent_p.L118L	p.L286L	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0315)		3	858	+			286						Silent	SNP	ENST00000423729.2	37	c.858C>G	CCDS3359.2																																																																																				0.711	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178557		13	20	0	0	0	1	0	13	20				
RBFOX1	54715	broad.mit.edu	37	16	7383041	7383041	+	Intron	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:7383041C>T	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000355637.4_Silent_p.G13G|RBFOX1_ENST00000436368.2_Silent_p.G13G|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.G13G|RBFOX1_ENST00000547372.1_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATCCTTATGGCGTGCCTATGA	0.488																																					Ovarian(157;934 2567 15163 39509)	ENST00000355637.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(37-39)ggC>ggT		RNA binding protein, fox-1 homolog (C. elegans) 1							220.0	177.0	191.0					16																	7383041		2197	4300	6497	SO:0001627	intron_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7383041C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185108C>T	16.37:g.7383041C>T						RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.G13G|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000436368.2_Silent_p.G13G|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron	p.G13G	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN			1	291	+			242					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.39C>T	CCDS55983.1																																																																																				0.488	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		9	161	0	0	0	1	0	9	161				
VAMP5	10791	broad.mit.edu	37	2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602																																						ENST00000306384.4																			1	Substitution - Missense(1)	p.R8W(1)	large_intestine(1)	NS(1)|large_intestine(3)|lung(1)	5						c.(22-24)Cgg>Tgg		vesicle-associated membrane protein 5							99.0	86.0	90.0					2																	85818866		2203	4300	6503	SO:0001583	missense	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818866C>T	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.22C>T	2.37:g.85818866C>T	ENSP00000305647:p.Arg8Trp						p.R8W	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	105	+			8			v-SNARE coiled-coil homology.		Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	c.22C>T	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966516	0.74131	.	.	ENSG00000168899	ENST00000306384	T	0.46451	0.87	4.84	3.86	0.44501	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.58163	0.2103	M	0.78456	2.415	0.26041	N	0.981608	D	0.76494	0.999	P	0.57846	0.828	T	0.52895	-0.8514	10	0.87932	D	0	.	11.017	0.47696	0.199:0.801:0.0:0.0	.	8	O95183	VAMP5_HUMAN	W	8	ENSP00000305647:R8W	ENSP00000305647:R8W	R	+	1	2	VAMP5	85672377	0.838000	0.29461	0.993000	0.49108	0.993000	0.82548	1.643000	0.37217	2.240000	0.73641	0.561000	0.74099	CGG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		10	85	0	0	0	1	0	10	85				
TUBB1	81027	broad.mit.edu	37	20	57597953	57597953	+	Silent	SNP	C	C	T	rs150453159	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:57597953C>T	ENST00000217133.1	+	2	380	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	37					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAGCGACCGCGGGGCCTCGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		18152	0.0		0.002	False		,,,				2504	0.0					ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(109-111)cgC>cgT		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	C		0,4406		0,0,2203	63.0	58.0	59.0		111	-2.9	0.0	20	dbSNP_134	59	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	TUBB1	NM_030773.3		0,14,6489	TT,TC,CC		0.1628,0.0,0.1076		37/452	57597953	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57597953C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.111C>T	20.37:g.57597953C>T							p.R37R	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		2	380	+	all_lung(29;0.00711)		37						Silent	SNP	ENST00000217133.1	37	c.111C>T	CCDS13475.1																																																																																				0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		26	36	0	0	0	1	0	26	36				
ZBTB20	26137	broad.mit.edu	37	3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:114058129T>C	ENST00000474710.1	-	5	2127	c.1949A>G	c.(1948-1950)aAc>aGc	p.N650S	ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000462705.1_Missense_Mutation_p.N577S	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1729-1731)aAc>aGc		zinc finger and BTB domain containing 20							204.0	179.0	187.0					3																	114058129		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058129T>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1949A>G	3.37:g.114058129T>C	ENSP00000419153:p.Asn650Ser					ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S	p.N577S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2551	-			650					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1730A>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059543	0.55325	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99;3.99;3.99	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.047714	0.85682	D	0.000000	T	0.02688	0.0081	N	0.04203	-0.255	0.58432	D	0.999999	P	0.43826	0.818	B	0.41466	0.358	T	0.68546	-0.5380	10	0.19590	T	0.45	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	650	Q9HC78	ZBT20_HUMAN	S	577;577;577;577;650;577;577	ENSP00000420324:N577S;ENSP00000377375:N577S;ENSP00000418092:N577S;ENSP00000419902:N577S;ENSP00000419153:N650S;ENSP00000349803:N577S;ENSP00000417307:N577S	ENSP00000349803:N577S	N	-	2	0	ZBTB20	115540819	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	6.139000	0.71728	2.288000	0.76882	0.533000	0.62120	AAC		0.527	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		101	122	0	0	0	1	0	101	122				
ANKRD30A	91074	broad.mit.edu	37	10	37430910	37430910	+	Missense_Mutation	SNP	C	C	T	rs200193852	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:37430910C>T	ENST00000602533.1	+	7	1016	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T306M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T306M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	362					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGGAAATTACGAGTCCTGCA	0.433													.|||	2	0.000399361	0.0015	0.0	5008	,	,		19604	0.0		0.0	False		,,,				2504	0.0					ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(916-918)aCg>aTg		ankyrin repeat domain 30A							92.0	91.0	91.0					10																	37430910		1874	4104	5978	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430910C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.917C>T	10.37:g.37430910C>T	ENSP00000473551:p.Thr306Met					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T306M|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T306M	p.T306M			Q9BXX3	AN30A_HUMAN			7	1016	+			362					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.917C>T		.	.	.	.	.	.	.	.	.	.	.	14.40	2.523711	0.44866	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05382	3.45;3.45	0.5	0.5	0.16919	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.25351	0.124	B	0.10450	0.005	T	0.45366	-0.9266	8	0.33940	T	0.23	.	.	.	.	.	362	Q9BXX3	AN30A_HUMAN	M	306	ENSP00000354432:T306M;ENSP00000363792:T306M	ENSP00000354432:T306M	T	+	2	0	ANKRD30A	37470916	0.012000	0.17670	0.007000	0.13788	0.009000	0.06853	-0.326000	0.07965	0.525000	0.28522	0.134000	0.15878	ACG		0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		65	86	0	0	0	1	0	65	86				
WDR7	23335	broad.mit.edu	37	18	54446754	54446754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr18:54446754C>T	ENST00000254442.3	+	18	3251	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	WDR7_ENST00000357574.3_Nonsense_Mutation_p.R981*|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1014					hematopoietic progenitor cell differentiation (GO:0002244)			p.R1014R(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GATGCTGGCCCGAAGATGGCA	0.413																																						ENST00000254442.3																			1	Substitution - coding silent(1)	p.R1014R(1)	lung(1)	NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3040-3042)Cga>Tga		WD repeat domain 7							108.0	94.0	99.0					18																	54446754		2203	4300	6503	SO:0001587	stop_gained	23335							g.chr18:54446754C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3040C>T	18.37:g.54446754C>T	ENSP00000254442:p.Arg1014*					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.R981*	p.R1014*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	18	3251	+			1014					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP	ENST00000254442.3	37	c.3040C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	44	10.553455	0.99426	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1865	0.89795	0.0:1.0:0.0:0.0	.	.	.	.	X	1014;981;339;981	.	ENSP00000254442:R1014X	R	+	1	2	WDR7	52597752	0.967000	0.33354	1.000000	0.80357	0.999000	0.98932	2.298000	0.43602	2.379000	0.81126	0.655000	0.94253	CGA		0.413	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			6	42	0	0	0	1	0	6	42				
CELSR3	1951	broad.mit.edu	37	3	48690585	48690585	+	Silent	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48690585C>T	ENST00000164024.4	-	10	5764	c.5484G>A	c.(5482-5484)agG>agA	p.R1828R	CELSR3_ENST00000544264.1_Silent_p.R1828R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1828	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCGAGCCCCTGGTCACTG	0.617																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(5482-5484)agG>agA		cadherin, EGF LAG seven-pass G-type receptor 3							63.0	52.0	55.0					3																	48690585		2203	4299	6502	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48690585C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5484G>A	3.37:g.48690585C>T						CELSR3_ENST00000164024.4_Silent_p.R1828R	p.R1828R			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	10	5764	-			1828			Laminin G-like 2.		O75092	Silent	SNP	ENST00000164024.4	37	c.5484G>A	CCDS2775.1																																																																																				0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		6	118	0	0	0	1	0	6	118				
OR1M1	125963	broad.mit.edu	37	19	9204546	9204546	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:9204546C>T	ENST00000429566.3	+	1	692	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTGATAGCCACGCCCTTTGTC	0.567																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(625-627)aCg>aTg		olfactory receptor, family 1, subfamily M, member 1							129.0	104.0	113.0					19																	9204546		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204546C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.626C>T	19.37:g.9204546C>T	ENSP00000401966:p.Thr209Met						p.T209M	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	692	+			209					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.626C>T	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	10.00	1.233263	0.22626	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.37411	1.2	3.8	-4.65	0.03339	GPCR, rhodopsin-like superfamily (1);	0.868487	0.10040	N	0.723505	T	0.17619	0.0423	N	0.17901	0.54	0.09310	N	1	B	0.27316	0.175	B	0.24541	0.054	T	0.17806	-1.0357	10	0.33940	T	0.23	.	5.7238	0.18002	0.0:0.3708:0.2348:0.3943	.	209	Q8NGA1	OR1M1_HUMAN	M	212;209	ENSP00000401966:T209M	ENSP00000303195:T212M	T	+	2	0	OR1M1	9065546	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	0.053000	0.14184	-0.892000	0.03935	-0.147000	0.13772	ACG		0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			52	74	0	0	0	1	0	52	74				
ZNF280C	55609	broad.mit.edu	37	X	129354412	129354412	+	Silent	SNP	A	A	G			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:129354412A>G	ENST00000370978.4	-	13	1591	c.1438T>C	c.(1438-1440)Ttg>Ctg	p.L480L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTGGTCAAAAATTGTAGT	0.393																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1438-1440)Ttg>Ctg		zinc finger protein 280C							135.0	120.0	125.0					X																	129354412		2203	4300	6503	SO:0001819	synonymous_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354412A>G	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1438T>C	X.37:g.129354412A>G							p.L480L	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			13	1591	-			480					A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	c.1438T>C	CCDS14622.1																																																																																				0.393	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		9	156	0	0	0	1	0	9	156				
AQP3	360	broad.mit.edu	37	9	33442299	33442299	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:33442299G>A	ENST00000297991.4	-	5	790	c.710C>T	c.(709-711)aCg>aTg	p.T237M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	237					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CTGTACTCACGTGAAGACTGC	0.657																																						ENST00000297991.4																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.e5+1		aquaporin 3 (Gill blood group)							16.0	21.0	19.0					9																	33442299		2202	4300	6502	SO:0001630	splice_region_variant	360				excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	g.chr9:33442299G>A		CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.710+1C>T	9.37:g.33442299G>A						AQP3_ENST00000493581.1_5'UTR	p.T237_splice	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)	5	790	-			237					A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Splice_Site	SNP	ENST00000297991.4	37	c.710_splice	CCDS6542.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068493	0.76301	.	.	ENSG00000165272	ENST00000297991	T	0.12039	2.72	5.5	5.5	0.81552	Aquaporin-like (2);	0.212919	0.39407	N	0.001376	T	0.44808	0.1311	M	0.94101	3.495	0.58432	D	0.999998	D	0.76494	0.999	P	0.60886	0.88	T	0.57631	-0.7778	10	0.72032	D	0.01	-3.6035	14.8657	0.70412	0.0:0.2544:0.7456:0.0	.	237	Q92482	AQP3_HUMAN	M	237	ENSP00000297991:T237M	ENSP00000297991:T237M	T	-	2	0	AQP3	33432299	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.535000	0.53575	2.582000	0.87167	0.563000	0.77884	ACG		0.657	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925	Missense_Mutation	3	28	0	0	0	1	0	3	28				
MAP7D1	55700	broad.mit.edu	37	1	36645154	36645154	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:36645154delC	ENST00000373151.2	+	14	2442	c.2226delC	c.(2224-2226)agcfs	p.S742fs	MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S709fs|MAP7D1_ENST00000316156.4_Frame_Shift_Del_p.S704fs|MAP7D1_ENST00000373148.4_Frame_Shift_Del_p.S278fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	742					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				ACGGTTCCAGCCCAGGTAAAG	0.617																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(2110-2112)agfs		MAP7 domain containing 1							70.0	58.0	62.0					1																	36645154		2187	4284	6471	SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36645154delC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.2226delC	1.37:g.36645154delC	ENSP00000362244:p.Ser742fs					MAP7D1_ENST00000373148.4_Frame_Shift_Del_p.S278fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S709fs|MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.S742fs	p.S704fs			Q3KQU3	MA7D1_HUMAN			13	2565	+		Myeloproliferative disorder(586;0.0393)	742					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Del	DEL	ENST00000373151.2	37	c.2112delC	CCDS30673.1																																																																																				0.617	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		2	4						2	4	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85039999	85040007	+	In_Frame_Del	DEL	GCAGCGCCA	GCAGCGCCA	-	rs142534762|rs3217269|rs199701060|rs201060055	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:85039999_85040007delGCAGCGCCA	ENST00000370630.5	-	1	140_148	c.92_100delTGGCGCTGC	c.(91-102)ctggcgctgcgg>cgg	p.LAL31del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	31					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GCCGCGAGCCgcagcgccagcagcgccag	0.718														1537	0.306909	0.5038	0.2954	5008	,	,		11352	0.0556		0.2624	False		,,,				2504	0.3538					ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(91-102)cgg>c		chitobiase, di-N-acetyl-				865,21,1798		349,2,165,3,13,810						-3.6	0.0		dbSNP_134	4	1279,4,4361		415,1,448,1,1,1956	no	codingComplex	CTBS	NM_004388.2		764,3,613,4,14,2766	A1A1,A1A2,A1R,A2A2,A2R,RR		22.7321,33.0104,26.0447				2144,25,6159				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85039999_85040007delGCAGCGCCA	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.92_100delTGGCGCTGC	1.37:g.85040008_85040016delGCAGCGCCA	ENSP00000359664:p.Leu31_Leu33del					CTBS_ENST00000477677.1_5'UTR	p.LALR31del	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	140_148	-			31					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.92_100delTGGCGCTGC	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		5	4						5	4	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209200822	209200823	+	In_Frame_Ins	INS	-	-	GTCTTC			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209200822_209200823insGTCTTC	ENST00000264380.4	+	27	4576_4577	c.4418_4419insGTCTTC	c.(4417-4422)atgtct>atGTCTTCgtct	p.1476_1477insSS	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1476					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCAAGGCTCATGTCTTCCTCTG	0.441																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(4417-4419)atc>aGTCTTCtc		phosphoinositide kinase, FYVE finger containing																																				SO:0001652	inframe_insertion	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209200822_209200823insGTCTTC	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4419_4424dupGTCTTC	2.37:g.209200823_209200828dupGTCTTC	ENSP00000264380:p.Ser1475_Ser1476dup					PIKFYVE_ENST00000474721.1_3'UTR	p.1473_1473I>SLL	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			27	4576_4577	+			1473					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	In_Frame_Ins	INS	ENST00000264380.4	37	c.4418_4419insGTCTTC	CCDS2382.1																																																																																				0.441	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		21	86						21	86	---	---	---	---
SLC10A4	201780	broad.mit.edu	37	4	48485844	48485844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:48485844delG	ENST00000273861.4	+	1	485	c.266delG	c.(265-267)tggfs	p.W89fs		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTCGGCCCTGGGCGCCCCAC	0.756																																						ENST00000273861.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(265-267)tgfs		solute carrier family 10, member 4							3.0	2.0	2.0					4																	48485844		1613	3252	4865	SO:0001589	frameshift_variant	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48485844delG	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.266delG	4.37:g.48485844delG	ENSP00000273861:p.Trp89fs						p.W89fs	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN			1	485	+			89					Q8WUZ2	Frame_Shift_Del	DEL	ENST00000273861.4	37	c.266delG	CCDS3482.1																																																																																				0.756	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		2	4						2	4	---	---	---	---
GAPDHP15	642317	broad.mit.edu	37	6	58294383	58294383	+	lincRNA	DEL	T	T	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr6:58294383delT	ENST00000420759.1	+	0	114																											GTCATCCCAGTTTCCCAGAGA	0.493																																						ENST00000420759.1																			0																																																			0							g.chr6:58294383delT																													6.37:g.58294383delT														0	114	+									RNA	DEL	ENST00000420759.1	37																																																																																						0.493	XXbac-BPG55C20.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000041060.1			2	4						2	4	---	---	---	---
SNX31	169166	broad.mit.edu	37	8	101589305	101589308	+	Splice_Site	DEL	TAGA	TAGA	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr8:101589305_101589308delTAGA	ENST00000311812.2	-	13	1321		c.e13-2		SNX31_ENST00000428383.2_Splice_Site	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31						protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTCAATCTGCTAGATAGATTAGTG	0.363																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.e13-2		sorting nexin 31																																				SO:0001630	splice_region_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101589305_101589308delTAGA		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1171-2TCTA>-	8.37:g.101589309_101589312delTAGA						SNX31_ENST00000428383.2_Splice_Site		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		13	1321	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)							C9J6L9|Q8N0U9	Splice_Site	DEL	ENST00000311812.2	37		CCDS6288.1																																																																																				0.363	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628	Intron	43	94						43	94	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28713125	28713125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:28713125delC	ENST00000380958.3	+	1	483	c.331delC	c.(331-333)cccfs	p.P112fs	PAN3_ENST00000399613.1_5'Flank|PAN3-AS1_ENST00000563843.1_RNA	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCTGGGCCGCCCCCCGGGCC	0.771																																						ENST00000380958.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(331-333)ccfs		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							2.0	2.0	2.0					13																	28713125		1117	2602	3719	SO:0001589	frameshift_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28713125delC	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.331delC	13.37:g.28713125delC	ENSP00000370345:p.Pro112fs						p.P112fs	NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	1	483	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	112			Interaction with polyadenylate-binding protein.			Frame_Shift_Del	DEL	ENST00000380958.3	37	c.331delC	CCDS9329.2																																																																																				0.771	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		2	4						2	4	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51530587	51530587	+	Frame_Shift_Del	DEL	A	A	-	rs75254367		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:51530587delA	ENST00000336617.3	+	11	1315	c.916delA	c.(916-918)aaafs	p.K308fs	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	308					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGTAAAAAATAAAAAAAAAAT	0.299																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(916-918)aafs		ribonuclease H2, subunit B			,	196,98,3922		10,2,174,0,96,1826	18.0	20.0	20.0		,	0.7	0.0	13	dbSNP_131	20	322,192,7686		10,1,301,0,191,3597	no	codingComplex,intron	RNASEH2B	NM_024570.3,NM_001142279.2	,	20,3,475,0,287,5423	A1A1,A1A2,A1R,A2A2,A2R,RR		6.2683,6.9734,6.5077	,	,	51530587	518,290,11608	2193	4282	6475	SO:0001589	frameshift_variant	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530587delA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.916delA	13.37:g.51530587delA	ENSP00000337623:p.Lys308fs					RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	p.K308fs	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1315	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	308					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Del	DEL	ENST00000336617.3	37	c.916delA	CCDS9425.1																																																																																				0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		3	6						3	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			2	4						2	4	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-	rs143282103		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1.0		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	167						8	167	---	---	---	---
CES2	8824	broad.mit.edu	37	16	66977769	66977770	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:66977769_66977770insT	ENST00000317091.4	+	12	2697_2698	c.1713_1714insT	c.(1714-1716)tggfs	p.W572fs	CES2_ENST00000417689.1_Frame_Shift_Ins_p.W556fs|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	508					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GTCTGCCACACTGGCCGCTGTT	0.634																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1711-1716)caggccfs		carboxylesterase 2																																				SO:0001589	frameshift_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66977769_66977770insT	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1714dupT	16.37:g.66977770_66977770dupT	ENSP00000317842:p.Trp572fs					RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Frame_Shift_Ins_p.QA555fs	p.QA571fs	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	12	2697_2698	+		Ovarian(137;0.0563)	507					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Frame_Shift_Ins	INS	ENST00000317091.4	37	c.1713_1714insT	CCDS10825.1																																																																																				0.634	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		7	112						7	112	---	---	---	---
NDUFA3	4696	broad.mit.edu	37	19	54610132	54610135	+	Frame_Shift_Del	DEL	GATG	GATG	-	rs587775895	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:54610132_54610135delGATG	ENST00000485876.1	+	4	220_223	c.178_181delGATG	c.(178-183)gatgggfs	p.DG60fs	NDUFA3_ENST00000391763.3_3'UTR|NDUFA3_ENST00000391764.3_Intron|NDUFA3_ENST00000391762.1_3'UTR|NDUFA3_ENST00000303553.5_Frame_Shift_Del_p.DG17fs			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	60					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGTCCGTGATGATGGGAACATGCC	0.642																																						ENST00000485876.1																			0				breast(1)|endometrium(1)	2						c.(178-183)ggfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4696				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:54610132_54610135delGATG	AF044955	CCDS12877.1	19q13.42	2011-07-04	2002-08-29		ENSG00000170906	ENSG00000170906		"""Mitochondrial respiratory chain complex / Complex I"""	7686	protein-coding gene	gene with protein product	"""complex I B9 subunit"""	603832	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)"""			9878551	Standard	NM_004542		Approved	B9	uc002qde.3	O95167	OTTHUMG00000064972	ENST00000485876.1:c.178_181delGATG	19.37:g.54610132_54610135delGATG	ENSP00000418438:p.Asp60fs					NDUFA3_ENST00000391762.1_3'UTR|NDUFA3_ENST00000391763.3_3'UTR|NDUFA3_ENST00000303553.5_Frame_Shift_Del_p.DG17fs|NDUFA3_ENST00000391764.3_Intron	p.DG60fs			O95167	NDUA3_HUMAN			4	220_223	+	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		60						Frame_Shift_Del	DEL	ENST00000485876.1	37	c.178_181delGATG	CCDS12877.1																																																																																				0.642	NDUFA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139509.5	NM_004542		11	6						11	6	---	---	---	---
