#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
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:21424254C>G	ENST00000304625.2	+	2	414	c.324C>G	c.(322-324)atC>atG	p.I108M		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	108					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.I108I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCCTTTAATCCACTGTAACC	0.418																																						ENST00000304625.2																			2	Substitution - coding silent(2)	p.I108I(2)	lung(2)	breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(322-324)atC>atG		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							88.0	85.0	86.0					14																	21424254		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424254C>G	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.324C>G	14.37:g.21424254C>G	ENSP00000303276:p.Ile108Met						p.I108M	NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	414	+	all_cancers(95;0.00381)		108					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.324C>G	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	7.429	0.638271	0.14386	.	.	ENSG00000169385	ENST00000304625	T	0.14144	2.53	3.02	-0.152	0.13407	Ribonuclease A, domain (4);	0.275088	0.29260	U	0.012668	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.22276	0.067	B	0.23150	0.044	T	0.27331	-1.0077	10	0.66056	D	0.02	.	3.2827	0.06921	0.456:0.4014:0.0:0.1426	.	108	P10153	RNAS2_HUMAN	M	108	ENSP00000303276:I108M	ENSP00000303276:I108M	I	+	3	3	RNASE2	20494094	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.381000	0.07417	-0.034000	0.13713	0.455000	0.32223	ATC		0.418	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			24	102	0	0	0	1	0	24	102				
ZNF594	84622	broad.mit.edu	37	17	5086992	5086992	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:5086992T>C	ENST00000399604.4	-	1	700	c.560A>G	c.(559-561)gAa>gGa	p.E187G	ZNF594_ENST00000575779.1_Missense_Mutation_p.E187G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTTCCACATTCATGACATAT	0.373																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(559-561)gAa>gGa		zinc finger protein 594							86.0	88.0	88.0					17																	5086992		2004	4212	6216	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086992T>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.560A>G	17.37:g.5086992T>C	ENSP00000382513:p.Glu187Gly					ZNF594_ENST00000575779.1_Missense_Mutation_p.E187G	p.E187G			Q96JF6	ZN594_HUMAN			1	700	-			187					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.560A>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	T	7.405	0.633575	0.14322	.	.	ENSG00000180626	ENST00000399604	T	0.35789	1.29	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52273	0.1724	M	0.77616	2.38	0.21416	N	0.999695	D	0.54397	0.966	P	0.58013	0.831	T	0.37267	-0.9713	9	0.87932	D	0	.	8.2174	0.31521	0.0:0.0:0.0:1.0	.	187	Q96JF6	ZN594_HUMAN	G	187	ENSP00000382513:E187G	ENSP00000382513:E187G	E	-	2	0	ZNF594	5027716	0.008000	0.16893	0.897000	0.35233	0.014000	0.08584	0.952000	0.29149	1.088000	0.41272	0.460000	0.39030	GAA		0.373	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		16	131	0	0	0	1	0	16	131				
ADCY8	114	broad.mit.edu	37	8	131826374	131826374	+	Missense_Mutation	SNP	G	G	A	rs150152490	byFrequency	TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:131826374G>A	ENST00000286355.5	-	14	4946	c.2854C>T	c.(2854-2856)Cgg>Tgg	p.R952W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R821W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	952					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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGATATTCCGGAGCATGTTC	0.552										HNSCC(32;0.087)			G|||	2	0.000399361	0.0015	0.0	5008	,	,		17738	0.0		0.0	False		,,,				2504	0.0					ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2854-2856)Cgg>Tgg		adenylate cyclase 8 (brain)		G	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	228.0	170.0	189.0		2854	5.9	1.0	8	dbSNP_134	189	0,8600		0,0,4300	no	missense	ADCY8	NM_001115.2	101	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	952/1252	131826374	4,13002	2203	4300	6503	SO:0001583	missense	114				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 membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131826374G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2854C>T	8.37:g.131826374G>A	ENSP00000286355:p.Arg952Trp	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R821W	p.R952W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		14	4946	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		952						Missense_Mutation	SNP	ENST00000286355.5	37	c.2854C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497357	0.85069	9.08E-4	0.0	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79033	-1.23;-1.22	5.87	5.87	0.94306	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.058532	0.64402	D	0.000003	D	0.82527	0.5056	L	0.38175	1.15	0.35916	D	0.831459	D;D	0.89917	1.0;1.0	D;D	0.66351	0.943;0.917	D	0.83954	0.0318	10	0.41790	T	0.15	.	17.7375	0.88397	0.0:0.0:1.0:0.0	.	821;952	E7EVL1;P40145	.;ADCY8_HUMAN	W	952;821	ENSP00000286355:R952W;ENSP00000367161:R821W	ENSP00000286355:R952W	R	-	1	2	ADCY8	131895556	0.961000	0.32948	1.000000	0.80357	0.999000	0.98932	2.333000	0.43912	2.941000	0.99782	0.655000	0.94253	CGG		0.552	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			8	117	0	0	0	1	0	8	117				
LAPTM4A	9741	broad.mit.edu	37	2	20237127	20237127	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:20237127T>C	ENST00000175091.4	-	4	889	c.382A>G	c.(382-384)Att>Gtt	p.I128V		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	128					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAACTAATAGCAACCAGG	0.343																																					Ovarian(90;1240 1386 7711 14384 46863)	ENST00000175091.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						c.(382-384)Att>Gtt		lysosomal protein transmembrane 4 alpha							73.0	75.0	75.0					2																	20237127		2203	4300	6503	SO:0001583	missense	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20237127T>C	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.382A>G	2.37:g.20237127T>C	ENSP00000175091:p.Ile128Val						p.I128V	NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN			4	889	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		128					Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	c.382A>G	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888314	0.33348	.	.	ENSG00000068697	ENST00000175091	T	0.45276	0.9	5.84	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	L	0.37850	1.14	0.58432	D	0.999999	B;B	0.12630	0.006;0.006	B;B	0.17098	0.017;0.017	T	0.07290	-1.0780	10	0.19590	T	0.45	-14.869	11.5907	0.50943	0.0:0.0702:0.0:0.9298	.	118;128	B4E2U6;Q15012	.;LAP4A_HUMAN	V	128	ENSP00000175091:I128V	ENSP00000175091:I128V	I	-	1	0	LAPTM4A	20100608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.061000	0.64319	1.116000	0.41820	0.528000	0.53228	ATT		0.343	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1	NM_014713		10	69	0	0	0	1	0	10	69				
USP34	9736	broad.mit.edu	37	2	61433915	61433915	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:61433915C>T	ENST00000398571.2	-	71	9102	c.9026G>A	c.(9025-9027)cGc>cAc	p.R3009H	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3009					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGATAAGGGCGTGTAGACTT	0.393																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9025-9027)cGc>cAc		ubiquitin specific peptidase 34							65.0	61.0	62.0					2																	61433915		1840	4095	5935	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61433915C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9026G>A	2.37:g.61433915C>T	ENSP00000381577:p.Arg3009His						p.R3009H	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		71	9102	-			3009					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9026G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925851	0.52759	.	.	ENSG00000115464	ENST00000263989;ENST00000398571	T	0.64618	-0.11	5.82	5.82	0.92795	Armadillo-type fold (1);	0.049979	0.85682	D	0.000000	T	0.46908	0.1417	N	0.08118	0	0.53688	D	0.999972	B	0.15473	0.013	B	0.04013	0.001	T	0.34875	-0.9811	10	0.45353	T	0.12	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	3009	Q70CQ2	UBP34_HUMAN	H	2857;3009	ENSP00000381577:R3009H	ENSP00000263989:R2857H	R	-	2	0	USP34	61287419	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.958000	0.63660	2.756000	0.94617	0.563000	0.77884	CGC		0.393	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	77	0	0	0	1	0	7	77				
ADAM29	11086	broad.mit.edu	37	4	175899049	175899049	+	Silent	SNP	G	G	A	rs372859702		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:175899049G>A	ENST00000359240.3	+	5	3043	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	ADAM29_ENST00000404450.4_Silent_p.T791T|ADAM29_ENST00000514159.1_Silent_p.T791T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.T791T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	791	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T791T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCAGTTGACGCCTTCCCAGA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19223	0.0		0.0	False		,,,				2504	0.001				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			1	Substitution - coding silent(1)	p.T791T(1)	urinary_tract(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2371-2373)acG>acA		ADAM metallopeptidase domain 29		G	,,,	0,4406		0,0,2203	163.0	151.0	155.0		2373,2373,2373,2373	-1.5	0.0	4		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	791/821,791/821,791/821,791/821	175899049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899049G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2373G>A	4.37:g.175899049G>A						ADAM29_ENST00000404450.4_Silent_p.T791T|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.T791T|ADAM29_ENST00000445694.1_Silent_p.T791T	p.T791T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	3043	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	791			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.2373G>A	CCDS3823.1																																																																																				0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				17	160	0	0	0	1	0	17	160				
KCTD20	222658	broad.mit.edu	37	6	36447401	36447401	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr6:36447401G>C	ENST00000373731.2	+	5	962	c.571G>C	c.(571-573)Gat>Cat	p.D191H	KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.D46H	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	191	BTB.				protein homooligomerization (GO:0051260)			p.D191H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CAATTGTCCTGATGGCATCTC	0.358																																						ENST00000373731.2																			1	Substitution - Missense(1)	p.D191H(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(571-573)Gat>Cat		potassium channel tetramerization domain containing 20							134.0	126.0	129.0					6																	36447401		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36447401G>C	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.571G>C	6.37:g.36447401G>C	ENSP00000362836:p.Asp191His					KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.D46H	p.D191H	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN			5	962	+			191			BTB.		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.571G>C	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760397	0.89932	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	T;T	0.80033	-1.33;-1.33	5.01	5.01	0.66863	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.066066	0.64402	D	0.000013	D	0.82568	0.5065	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84175	0.0436	10	0.59425	D	0.04	-26.4327	18.5249	0.90968	0.0:0.0:1.0:0.0	.	191	Q7Z5Y7	KCD20_HUMAN	H	191;46	ENSP00000362836:D191H;ENSP00000439118:D46H	ENSP00000362836:D191H	D	+	1	0	KCTD20	36555379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.602000	0.87976	0.591000	0.81541	GAT		0.358	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		10	133	0	0	0	1	0	10	133				
STAG1	10274	broad.mit.edu	37	3	136170943	136170943	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:136170943T>C	ENST00000383202.2	-	14	1616	c.1360A>G	c.(1360-1362)Agg>Ggg	p.R454G	STAG1_ENST00000434713.2_Missense_Mutation_p.R228G|STAG1_ENST00000236698.5_Missense_Mutation_p.R454G|STAG1_ENST00000536929.1_Missense_Mutation_p.R38G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	454					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTCCCCTCCTCTTTGCTAAT	0.373																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1360-1362)Agg>Ggg		stromal antigen 1							135.0	121.0	126.0					3																	136170943		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136170943T>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1360A>G	3.37:g.136170943T>C	ENSP00000372689:p.Arg454Gly					STAG1_ENST00000434713.2_Missense_Mutation_p.R228G|STAG1_ENST00000536929.1_Missense_Mutation_p.R38G|STAG1_ENST00000236698.5_Missense_Mutation_p.R454G	p.R454G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			14	1616	-			454					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.1360A>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.871678	0.51695	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.36520	1.76;1.77;1.83;1.25	5.51	4.33	0.51752	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	L	0.37850	1.14	0.80722	D	1	B;P;B	0.45672	0.01;0.864;0.01	B;P;B	0.48982	0.019;0.597;0.029	T	0.09885	-1.0654	10	0.48119	T	0.1	.	12.5575	0.56263	0.0:0.0:0.1393:0.8607	.	471;454;454	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	G	454;454;228;38	ENSP00000372689:R454G;ENSP00000236698:R454G;ENSP00000404396:R228G;ENSP00000445787:R38G	ENSP00000236698:R454G	R	-	1	2	STAG1	137653633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.364000	0.66110	0.893000	0.36288	0.482000	0.46254	AGG		0.373	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		16	115	0	0	0	1	0	16	115				
SLC6A10P	386757	broad.mit.edu	37	16	32891896	32891896	+	RNA	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:32891896G>C	ENST00000330048.5	-	0	2827					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		TGGTCCCACTGTTGATGACAG	0.627																																						ENST00000330048.5																			0																																																			386757							g.chr16:32891896G>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32891896G>C								NR_003083.2						0	2827	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			9	70	0	0	0	1	0	9	70				
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:248308964G>T	ENST00000366476.1	+	1	515	c.515G>T	c.(514-516)cGg>cTg	p.R172L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(514-516)cGg>cTg		olfactory receptor, family 2, subfamily M, member 5							281.0	265.0	271.0					1																	248308964		2203	4298	6501	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308964G>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.515G>T	1.37:g.248308964G>T	ENSP00000355432:p.Arg172Leu						p.R172L	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	515	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		172						Missense_Mutation	SNP	ENST00000366476.1	37	c.515G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.474030	0.43942	.	.	ENSG00000162727	ENST00000366476	T	0.00115	8.71	3.28	-0.741	0.11112	GPCR, rhodopsin-like superfamily (1);	0.298455	0.18176	U	0.149296	T	0.00144	0.0004	L	0.58925	1.835	0.09310	N	1	B	0.17268	0.021	B	0.24394	0.053	T	0.44862	-0.9300	10	0.59425	D	0.04	.	2.3182	0.04204	0.3221:0.0:0.272:0.406	.	172	A3KFT3	OR2M5_HUMAN	L	172	ENSP00000355432:R172L	ENSP00000355432:R172L	R	+	2	0	OR2M5	246375587	0.000000	0.05858	0.004000	0.12327	0.873000	0.50193	1.125000	0.31332	0.031000	0.15407	0.492000	0.49549	CGG		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		35	492	1	0	1.36161e-19	1	1.50426e-19	35	492				
CLPS	1208	broad.mit.edu	37	6	35765036	35765036	+	Silent	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr6:35765036G>A	ENST00000259938.2	-	1	52	c.30C>T	c.(28-30)gtC>gtT	p.V10V		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	10					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(2)|prostate(1)	5						CAGAGAGGGCGACAAGCAGGA	0.607																																					Melanoma(167;2962 3494 37796)	ENST00000259938.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(28-30)gtC>gtT		colipase, pancreatic							120.0	106.0	111.0					6																	35765036		2203	4300	6503	SO:0001819	synonymous_variant	1208				lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region		g.chr6:35765036G>A		CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.30C>T	6.37:g.35765036G>A							p.V10V	NM_001832.3	NP_001823.1	P04118	COL_HUMAN			1	52	-			10					Q5T9G7|Q5U809	Silent	SNP	ENST00000259938.2	37	c.30C>T	CCDS4811.1																																																																																				0.607	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040312.1	NM_001832		15	153	0	0	0	1	0	15	153				
PPM1F	9647	broad.mit.edu	37	22	22277783	22277783	+	Silent	SNP	C	C	T	rs373995253		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr22:22277783C>T	ENST00000263212.5	-	8	1152	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	PPM1F_ENST00000538191.1_Silent_p.T245T|PPM1F_ENST00000407142.1_Silent_p.T181T	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	349					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCTCGGAGCCCGTCAGCGCCC	0.642																																						ENST00000407142.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(541-543)acG>acA		protein phosphatase, Mg2+/Mn2+ dependent, 1F		C		0,4406		0,0,2203	46.0	50.0	48.0		1047	-10.5	0.2	22		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPM1F	NM_014634.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		349/455	22277783	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22277783C>T	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1047G>A	22.37:g.22277783C>T						PPM1F_ENST00000263212.5_Silent_p.T349T|PPM1F_ENST00000538191.1_Silent_p.T245T	p.T181T			P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	6	1603	-	Colorectal(54;0.105)		349					A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	ENST00000263212.5	37	c.543G>A	CCDS13796.1																																																																																				0.642	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634		8	70	0	0	0	1	0	8	70				
PCNT	5116	broad.mit.edu	37	21	47746457	47746457	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr21:47746457C>T	ENST00000359568.5	+	2	328	c.221C>T	c.(220-222)tCa>tTa	p.S74L	PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000397682.3_5'Flank|C21orf58_ENST00000291691.7_5'Flank|C21orf58_ENST00000397685.4_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	74					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAAAGCACATCATGTGACGAC	0.522																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(220-222)tCa>tTa		pericentrin							123.0	114.0	117.0					21																	47746457		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47746457C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.221C>T	21.37:g.47746457C>T	ENSP00000352572:p.Ser74Leu					PCNT_ENST00000480896.1_3'UTR	p.S74L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			2	328	+	Breast(49;0.112)		74					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.221C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076488	0.55753	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01854	4.6	4.88	3.07	0.35406	.	1.113070	0.07215	N	0.859849	T	0.02848	0.0085	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45833	-0.9234	10	0.45353	T	0.12	.	5.0808	0.14655	0.1634:0.659:0.0:0.1776	.	74	O95613	PCNT_HUMAN	L	74	ENSP00000352572:S74L	ENSP00000338675:S74L	S	+	2	0	PCNT	46570885	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.621000	0.24418	0.586000	0.29626	0.462000	0.41574	TCA		0.522	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		13	120	0	0	0	1	0	13	120				
KLF7	8609	broad.mit.edu	37	2	207988567	207988567	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:207988567G>C	ENST00000309446.6	-	2	1040	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	KLF7_ENST00000467833.1_Intron|KLF7_ENST00000412414.2_Missense_Mutation_p.Q194E|KLF7_ENST00000423015.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000421199.1_Missense_Mutation_p.Q189E|KLF7_ENST00000458272.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	222					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CCGTTAAACTGACAGCGGTGA	0.557																																						ENST00000309446.6																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11						c.(664-666)Cag>Gag		Kruppel-like factor 7 (ubiquitous)							86.0	86.0	86.0					2																	207988567		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988567G>C	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.664C>G	2.37:g.207988567G>C	ENSP00000309570:p.Gln222Glu					KLF7_ENST00000412414.2_Missense_Mutation_p.Q194E|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.Q189E	p.Q222E	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	2	1040	-			222					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.664C>G	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402079	0.62288	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000412414	T;T;T	0.35236	1.32;1.32;1.32	5.94	5.94	0.96194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.64567	1.98	0.80722	D	1	P;P	0.41546	0.602;0.754	B;B	0.42738	0.396;0.306	T	0.29488	-1.0010	10	0.44086	T	0.13	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	194;222	B7Z4F7;O75840	.;KLF7_HUMAN	E	222;189;194	ENSP00000309570:Q222E;ENSP00000387510:Q189E;ENSP00000403284:Q194E	ENSP00000309570:Q222E	Q	-	1	0	KLF7	207696812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	CAG		0.557	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		15	128	0	0	0	1	0	15	128				
LRRC37B	114659	broad.mit.edu	37	17	30349129	30349129	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:30349129C>G	ENST00000341671.7	+	1	969	c.964C>G	c.(964-966)Cat>Gat	p.H322D	LRRC37B_ENST00000543378.2_Missense_Mutation_p.H240D|LRRC37B_ENST00000327564.7_Missense_Mutation_p.H349D|LRRC37B_ENST00000584368.1_Missense_Mutation_p.H334D|LRRC37B_ENST00000394713.3_Missense_Mutation_p.H322D	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	322						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCCACTGAATCATGAAGTGAC	0.493																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1045-1047)Cat>Gat		leucine rich repeat containing 37B							76.0	83.0	81.0					17																	30349129		2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30349129C>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.964C>G	17.37:g.30349129C>G	ENSP00000340519:p.His322Asp					LRRC37B_ENST00000584368.1_Missense_Mutation_p.H334D|LRRC37B_ENST00000543378.2_Missense_Mutation_p.H240D|LRRC37B_ENST00000394713.3_Missense_Mutation_p.H322D|LRRC37B_ENST00000341671.7_Missense_Mutation_p.H322D	p.H349D			Q96QE4	LR37B_HUMAN			1	1106	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	322					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.1045C>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	7.207	0.594627	0.13875	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.67345	-0.2;-0.26;0.86;-0.26	1.85	-2.36	0.06663	.	.	.	.	.	T	0.45276	0.1334	L	0.34521	1.04	0.09310	N	1	B;P	0.42827	0.096;0.791	B;B	0.35240	0.042;0.198	T	0.34153	-0.9840	9	0.49607	T	0.09	.	4.1609	0.10284	0.0:0.3515:0.4768:0.1718	.	322;322	Q17RC9;Q96QE4	.;LR37B_HUMAN	D	240;349;322;322	ENSP00000443345:H240D;ENSP00000332536:H349D;ENSP00000378202:H322D;ENSP00000340519:H322D	ENSP00000332536:H349D	H	+	1	0	LRRC37B	27373242	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.289000	0.02780	-0.507000	0.06549	0.164000	0.16699	CAT		0.493	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		11	183	0	0	0	1	0	11	183				
TAS1R1	80835	broad.mit.edu	37	1	6639024	6639024	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:6639024G>A	ENST00000333172.6	+	6	2099	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.A382T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	636					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCTACGCCAGGCCCTCTTTGC	0.537																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1906-1908)Gcc>Acc		taste receptor, type 1, member 1							101.0	97.0	99.0					1																	6639024		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639024G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1906G>A	1.37:g.6639024G>A	ENSP00000331867:p.Ala636Thr					TAS1R1_ENST00000351136.3_Missense_Mutation_p.A382T|TAS1R1_ENST00000328191.4_3'UTR	p.A636T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2099	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	636					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.1906G>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	7.789	0.711234	0.15239	.	.	ENSG00000173662	ENST00000333172;ENST00000351136	D;D	0.88124	-2.34;-2.34	5.19	-0.913	0.10500	GPCR, family 3, C-terminal (2);	0.585491	0.18085	N	0.152169	T	0.56819	0.2011	N	0.01446	-0.86	0.21184	N	0.999768	B;B	0.13594	0.002;0.008	B;B	0.17433	0.007;0.018	T	0.56165	-0.8024	10	0.02654	T	1	.	3.3691	0.07213	0.2185:0.214:0.4637:0.1038	.	382;636	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	T	636;382	ENSP00000331867:A636T;ENSP00000312558:A382T	ENSP00000331867:A636T	A	+	1	0	TAS1R1	6561611	0.000000	0.05858	0.002000	0.10522	0.574000	0.36063	0.311000	0.19380	-0.041000	0.13558	0.655000	0.94253	GCC		0.537	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			14	131	0	0	0	1	0	14	131				
VPS13A	23230	broad.mit.edu	37	9	79917892	79917892	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr9:79917892G>C	ENST00000360280.3	+	34	4134	c.3874G>C	c.(3874-3876)Gag>Cag	p.E1292Q	VPS13A_ENST00000376634.4_Missense_Mutation_p.E1292Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1292Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.E1253Q|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1292					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTAAATCTTGAGGTTGTGGT	0.353																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3874-3876)Gag>Cag		vacuolar protein sorting 13 homolog A (S. cerevisiae)							136.0	132.0	134.0					9																	79917892		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79917892G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3874G>C	9.37:g.79917892G>C	ENSP00000353422:p.Glu1292Gln					VPS13A_ENST00000376636.3_Missense_Mutation_p.E1253Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E1292Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.E1292Q|VPS13A_ENST00000423463.2_3'UTR	p.E1292Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			34	4134	+			1292					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3874G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085842	0.20390	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.31	5.31	0.75309	.	0.218732	0.37906	N	0.001895	T	0.30386	0.0763	L	0.50333	1.59	0.80722	D	1	B;D;D;D	0.67145	0.257;0.996;0.981;0.981	B;P;P;P	0.57324	0.146;0.818;0.818;0.818	T	0.01848	-1.1261	10	0.15952	T	0.53	.	18.5866	0.91192	0.0:0.0:1.0:0.0	.	1253;1292;1292;1292	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	1292;1253;1292;1292	ENSP00000365821:E1292Q;ENSP00000365823:E1253Q;ENSP00000353422:E1292Q;ENSP00000349985:E1292Q	ENSP00000349985:E1292Q	E	+	1	0	VPS13A	79107712	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	7.087000	0.76893	2.480000	0.83734	0.563000	0.77884	GAG		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		5	138	0	0	0	1	0	5	138				
SMG1	23049	broad.mit.edu	37	16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	SMG1_ENST00000567737.1_5'UTR|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.G13S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(37-39)Ggc>Agc		SMG1 phosphatidylinositol 3-kinase-related kinase							2.0	3.0	3.0					16																	18937327		1046	2801	3847	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937327C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.37G>A	16.37:g.18937327C>T	ENSP00000402515:p.Gly13Ser					SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|SMG1_ENST00000567737.1_5'UTR	p.G13S			Q96Q15	SMG1_HUMAN			1	449	-			13			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.37G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051895	0.55218	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01240	5.12;5.12	4.27	3.31	0.37934	.	0.832224	0.10596	N	0.656220	T	0.00998	0.0033	N	0.14661	0.345	0.31512	N	0.663496	B	0.22346	0.068	B	0.08055	0.003	T	0.29912	-0.9996	10	0.12766	T	0.61	.	6.0417	0.19738	0.0:0.7231:0.0:0.2769	.	13	Q96Q15	SMG1_HUMAN	S	13	ENSP00000402515:G13S;ENSP00000374118:G13S	ENSP00000374118:G13S	G	-	1	0	SMG1	18844828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.149000	0.42244	0.999000	0.39023	0.455000	0.32223	GGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	22	0	0	0	1	0	4	22				
RNASE2	6036	broad.mit.edu	37	14	21424255	21424255	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:21424255C>T	ENST00000304625.2	+	2	415	c.325C>T	c.(325-327)Cac>Tac	p.H109Y		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	109					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GCCTTTAATCCACTGTAACCT	0.418																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(325-327)Cac>Tac		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							88.0	85.0	86.0					14																	21424255		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424255C>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.325C>T	14.37:g.21424255C>T	ENSP00000303276:p.His109Tyr						p.H109Y	NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	415	+	all_cancers(95;0.00381)		109					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.325C>T	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.514768	0.00010	.	.	ENSG00000169385	ENST00000304625	T	0.13089	2.62	3.02	-6.03	0.02185	Ribonuclease A, domain (4);	2.831700	0.02211	N	0.063151	T	0.04907	0.0132	N	0.05031	-0.125	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.26087	-1.0113	10	0.02654	T	1	.	3.4068	0.07344	0.1052:0.0904:0.3135:0.491	.	109	P10153	RNAS2_HUMAN	Y	109	ENSP00000303276:H109Y	ENSP00000303276:H109Y	H	+	1	0	RNASE2	20494095	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-5.670000	0.00106	-5.988000	0.00007	-0.693000	0.03709	CAC		0.418	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			25	101	0	0	0	1	0	25	101				
TNFSF4	7292	broad.mit.edu	37	1	173176258	173176258	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:173176258C>G	ENST00000281834.3	-	1	194	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	TNFSF4_ENST00000367718.1_5'Flank|TNFSF4_ENST00000488053.1_5'Flank	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	20					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TTGTTCCTCTCGAATCTTGGC	0.512																																						ENST00000281834.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(58-60)Gag>Cag		tumor necrosis factor (ligand) superfamily, member 4							143.0	122.0	129.0					1																	173176258		2203	4300	6503	SO:0001583	missense	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173176258C>G	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.58G>C	1.37:g.173176258C>G	ENSP00000281834:p.Glu20Gln						p.E20Q	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN			1	194	-			20					Q5JZA5|Q8IV74|Q9HCN9	Missense_Mutation	SNP	ENST00000281834.3	37	c.58G>C	CCDS1306.1	.	.	.	.	.	.	.	.	.	.	C	0.872	-0.731682	0.03135	.	.	ENSG00000117586	ENST00000281834	.	.	.	5.43	-9.91	0.00458	.	2.135760	0.02097	N	0.053594	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13019	-1.0525	9	0.20519	T	0.43	1.8386	3.8976	0.09146	0.2525:0.0995:0.4828:0.1651	.	20	P23510	TNFL4_HUMAN	Q	20	.	ENSP00000281834:E20Q	E	-	1	0	TNFSF4	171442881	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.345000	0.07770	-1.330000	0.02255	-1.045000	0.02358	GAG		0.512	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			4	85	0	0	0	1	0	4	85				
ALDH3A2	224	broad.mit.edu	37	17	19578919	19578919	+	3'UTR	SNP	C	C	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:19578919C>A	ENST00000176643.6	+	0	1938				SLC47A2_ENST00000463318.1_5'Flank|ALDH3A2_ENST00000581518.1_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000571163.1_Missense_Mutation_p.T92N|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2						cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					AGTGCCTCTACTGAATTATTC	0.328																																						ENST00000571163.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13						c.(274-276)aCt>aAt		aldehyde dehydrogenase 3 family, member A2	NADH(DB00157)						154.0	149.0	151.0					17																	19578919		2203	4300	6503	SO:0001624	3_prime_UTR_variant	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19578919C>A	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.*34C>A	17.37:g.19578919C>A						ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000176643.6_3'UTR|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000581518.1_3'UTR	p.T92N			P51648	AL3A2_HUMAN			3	275	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		0					Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	c.275C>A	CCDS11210.1																																																																																				0.328	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			22	118	1	0	2.37509e-13	1	2.59916e-13	22	118				
GAN	8139	broad.mit.edu	37	16	81396185	81396185	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:81396185A>G	ENST00000568107.2	+	6	1217	c.1055A>G	c.(1054-1056)aAt>aGt	p.N352S		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	352					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCAGATGCAAATACATGGACA	0.403																																					GBM(106;1239 1507 7582 9741 33976)	ENST00000248272.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25						c.(1054-1056)aAt>aGt		gigaxonin							178.0	152.0	161.0					16																	81396185		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81396185A>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1055A>G	16.37:g.81396185A>G	ENSP00000476795:p.Asn352Ser						p.N352S	NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN			6	1217	+		Colorectal(91;0.153)	352						Missense_Mutation	SNP	ENST00000568107.2	37	c.1055A>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134752	0.56828	.	.	ENSG00000127688	ENST00000248272	D	0.82526	-1.62	5.04	5.04	0.67666	Galactose oxidase, beta-propeller (1);	0.087570	0.85682	D	0.000000	D	0.92596	0.7648	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93969	0.7247	10	0.62326	D	0.03	.	14.9604	0.71153	1.0:0.0:0.0:0.0	.	352	Q9H2C0	GAN_HUMAN	S	352	ENSP00000248272:N352S	ENSP00000248272:N352S	N	+	2	0	GAN	79953686	1.000000	0.71417	0.875000	0.34327	0.168000	0.22595	8.149000	0.89632	2.114000	0.64651	0.533000	0.62120	AAT		0.403	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			16	88	0	0	0	1	0	16	88				
CDK12	51755	broad.mit.edu	37	17	37627938	37627938	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:37627938C>T	ENST00000447079.4	+	2	1886	c.1853C>T	c.(1852-1854)gCt>gTt	p.A618V	CDK12_ENST00000430627.2_Missense_Mutation_p.A618V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	618					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTAACAGCTGCTATTCCACAC	0.478			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1852-1854)gCt>gTt		cyclin-dependent kinase 12							124.0	116.0	119.0					17																	37627938		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627938C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1853C>T	17.37:g.37627938C>T	ENSP00000398880:p.Ala618Val	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.A618V	p.A618V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1886	+			618					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1853C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394183	0.62066	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70516	-0.49;-0.48	5.79	5.79	0.91817	.	0.000000	0.49305	D	0.000160	T	0.65502	0.2697	L	0.44542	1.39	0.42611	D	0.993312	P;P;P	0.48294	0.851;0.851;0.908	B;B;B	0.43916	0.162;0.253;0.436	T	0.65278	-0.6207	10	0.35671	T	0.21	-11.1458	13.2682	0.60146	0.0:0.9277:0.0:0.0723	.	617;618;618	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	V	618	ENSP00000407720:A618V;ENSP00000398880:A618V	ENSP00000407720:A618V	A	+	2	0	CDK12	34881464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.297000	0.51810	2.736000	0.93811	0.655000	0.94253	GCT		0.478	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		12	168	0	0	0	1	0	12	168				
EPHA5	2044	broad.mit.edu	37	4	66467860	66467860	+	Missense_Mutation	SNP	A	A	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:66467860A>C	ENST00000273854.3	-	3	1009	c.409T>G	c.(409-411)Tgc>Ggc	p.C137G	EPHA5_ENST00000354839.4_Missense_Mutation_p.C137G|EPHA5_ENST00000432638.2_Missense_Mutation_p.C137G|EPHA5_ENST00000511294.1_Missense_Mutation_p.C137G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	137	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGGCTGTTGCAGTCCCGCAGG	0.428										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(409-411)Tgc>Ggc		EPH receptor A5							77.0	80.0	79.0					4																	66467860		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467860A>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.409T>G	4.37:g.66467860A>C	ENSP00000273854:p.Cys137Gly	TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Missense_Mutation_p.C137G|EPHA5_ENST00000432638.2_Missense_Mutation_p.C137G|EPHA5_ENST00000511294.1_Missense_Mutation_p.C137G	p.C137G	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			3	1009	-			137					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.409T>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114676	0.77210	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.77685	0.4167	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;0.973	D;D;D;P	0.91635	0.999;0.968;0.999;0.843	D	0.84542	0.0639	10	0.87932	D	0	.	15.9044	0.79412	1.0:0.0:0.0:0.0	.	137;137;137;137	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	G	137	ENSP00000273854:C137G;ENSP00000389208:C137G;ENSP00000346899:C137G;ENSP00000427638:C137G	ENSP00000273854:C137G	C	-	1	0	EPHA5	66150455	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	2.162000	0.67917	0.528000	0.53228	TGC		0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		12	132	0	0	0	1	0	12	132				
RPA2	6118	broad.mit.edu	37	1	28233480	28233480	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:28233480T>C	ENST00000373912.3	-	4	591	c.292A>G	c.(292-294)Aca>Gca	p.T98A	RPA2_ENST00000313433.7_Missense_Mutation_p.T186A|RPA2_ENST00000373909.3_Missense_Mutation_p.T106A	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	98	Asp/Glu-rich (acidic).				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGCAGCTGTCATGTCATCT	0.423								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(292-294)Aca>Gca	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							85.0	72.0	76.0					1																	28233480		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28233480T>C	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.292A>G	1.37:g.28233480T>C	ENSP00000363021:p.Thr98Ala					RPA2_ENST00000373909.3_Missense_Mutation_p.T106A|RPA2_ENST00000313433.7_Missense_Mutation_p.T186A	p.T98A	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	4	591	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	98			Asp/Glu-rich (acidic).		Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.292A>G	CCDS314.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.994786	0.93167	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.83	5.83	0.93111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	M	0.90595	3.13	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.953	D	0.86274	0.1663	10	0.87932	D	0	-30.9406	15.1763	0.72913	0.0:0.0:0.0:1.0	.	98;106	P15927;P15927-2	RFA2_HUMAN;.	A	98;106;186;102	ENSP00000363021:T98A;ENSP00000363017:T106A;ENSP00000363015:T186A;ENSP00000387649:T102A	ENSP00000363015:T186A	T	-	1	0	RPA2	28106067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.642000	0.83385	2.225000	0.72522	0.482000	0.46254	ACA		0.423	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		12	65	0	0	0	1	0	12	65				
SNHG14	104472715	broad.mit.edu	37	15	25438318	25438318	+	RNA	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr15:25438318G>A	ENST00000424208.1	+	0	1177				SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GGTCCCAATGGTCCCAGGCCA	0.582																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25438318G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438318G>A						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1177	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.582	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			4	55	0	0	0	1	0	4	55				
FMN2	56776	broad.mit.edu	37	1	240256629	240256629	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:240256629G>A	ENST00000319653.9	+	1	1450	c.1220G>A	c.(1219-1221)tGt>tAt	p.C407Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	407					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCCAGCGCTGTTTCAAGCCC	0.692																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1219-1221)tGt>tAt		formin 2							32.0	39.0	37.0					1																	240256629		2203	4299	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256629G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1220G>A	1.37:g.240256629G>A	ENSP00000318884:p.Cys407Tyr						p.C407Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1450	+	Ovarian(103;0.127)	all_cancers(173;0.013)	407					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1220G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862296	0.32884	.	.	ENSG00000155816	ENST00000319653	D	0.92348	-3.02	4.15	4.15	0.48705	.	0.175198	0.40640	N	0.001048	D	0.87120	0.6098	L	0.27053	0.805	0.80722	D	1	B	0.18863	0.031	B	0.15870	0.014	D	0.84515	0.0624	10	0.54805	T	0.06	.	16.6116	0.84884	0.0:0.0:1.0:0.0	.	407	Q9NZ56	FMN2_HUMAN	Y	407	ENSP00000318884:C407Y	ENSP00000318884:C407Y	C	+	2	0	FMN2	238323252	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.494000	0.60347	2.130000	0.65690	0.462000	0.41574	TGT		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	58	0	0	0	1	0	7	58				
APOL4	80832	broad.mit.edu	37	22	36587485	36587485	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr22:36587485A>G	ENST00000352371.1	-	6	915	c.691T>C	c.(691-693)Ttt>Ctt	p.F231L	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000332987.1_Missense_Mutation_p.F228L|APOL4_ENST00000404685.3_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	232					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						TCAAGTGCAAAAGAAAGCACA	0.483																																						ENST00000332987.1																			0				lung(1)	1						c.(682-684)Ttt>Ctt		apolipoprotein L, 4							105.0	98.0	100.0					22																	36587485		2187	4291	6478	SO:0001583	missense	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587485A>G	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.691T>C	22.37:g.36587485A>G	ENSP00000338260:p.Phe231Leu					APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.F231L|APOL4_ENST00000404685.3_3'UTR	p.F228L			Q9BPW4	APOL4_HUMAN			7	1104	-			232					Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	ENST00000352371.1	37	c.682T>C		.	.	.	.	.	.	.	.	.	.	a	0.012	-1.668852	0.00765	.	.	ENSG00000100336	ENST00000352371;ENST00000332987	T;T	0.02525	4.26;4.26	2.26	-4.51	0.03483	.	3.904070	0.00397	N	0.000054	T	0.00906	0.0030	N	0.01168	-0.975	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.38373	-0.9664	10	0.02654	T	1	.	1.0025	0.01480	0.2094:0.1675:0.1334:0.4896	.	232;228	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	L	231;228	ENSP00000338260:F231L;ENSP00000333229:F228L	ENSP00000333229:F228L	F	-	1	0	APOL4	34917431	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.784000	0.00771	-1.609000	0.01585	0.330000	0.21533	TTT		0.483	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		4	73	0	0	0	1	0	4	73				
SLITRK3	22865	broad.mit.edu	37	3	164906812	164906812	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:164906812G>A	ENST00000475390.1	-	2	2250	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	603	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCAATAGTGCGCACATCACGG	0.552										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1807-1809)Cgc>Tgc		SLIT and NTRK-like family, member 3							72.0	66.0	68.0					3																	164906812		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906812G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1807C>T	3.37:g.164906812G>A	ENSP00000420091:p.Arg603Cys	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.R603C	p.R603C			O94933	SLIK3_HUMAN			2	2250	-			603			LRRCT 2.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1807C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233294	0.39498	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53423	0.62;0.62	5.7	5.7	0.88788	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.38436	N	0.001697	T	0.72875	0.3515	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.66979	0.948	T	0.78064	-0.2350	10	0.87932	D	0	-16.8764	14.624	0.68608	0.0:0.0:0.8542:0.1458	.	603	O94933	SLIK3_HUMAN	C	603	ENSP00000420091:R603C;ENSP00000241274:R603C	ENSP00000241274:R603C	R	-	1	0	SLITRK3	166389506	1.000000	0.71417	0.999000	0.59377	0.362000	0.29581	3.133000	0.50531	2.836000	0.97738	0.655000	0.94253	CGC		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	83	0	0	0	1	0	4	83				
KXD1	79036	broad.mit.edu	37	19	18672916	18672916	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:18672916G>T	ENST00000602094.1	+	2	1510	c.50G>T	c.(49-51)aGc>aTc	p.S17I	KXD1_ENST00000540691.1_Missense_Mutation_p.S17I|KXD1_ENST00000595073.1_Missense_Mutation_p.S17I|AC005253.2_ENST00000597411.1_RNA|KXD1_ENST00000599319.1_Missense_Mutation_p.S17I|KXD1_ENST00000601630.1_Missense_Mutation_p.S17I|KXD1_ENST00000539106.1_Missense_Mutation_p.S17I|KXD1_ENST00000599000.1_Missense_Mutation_p.S17I|KXD1_ENST00000222307.4_Missense_Mutation_p.S17I|KXD1_ENST00000598830.1_Missense_Mutation_p.S17I			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	17					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											CGCATCCTGAGCATGGTGAAC	0.597																																						ENST00000602094.1																			0											c.(49-51)aGc>aTc		KxDL motif containing 1							54.0	46.0	49.0					19																	18672916		2203	4300	6503	SO:0001583	missense	79036						protein binding	g.chr19:18672916G>T	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.50G>T	19.37:g.18672916G>T	ENSP00000472836:p.Ser17Ile					KXD1_ENST00000599319.1_Missense_Mutation_p.S17I|KXD1_ENST00000599000.1_Missense_Mutation_p.S17I|KXD1_ENST00000598830.1_Missense_Mutation_p.S17I|KXD1_ENST00000539106.1_Missense_Mutation_p.S17I|KXD1_ENST00000222307.4_Missense_Mutation_p.S17I|KXD1_ENST00000595073.1_Missense_Mutation_p.S17I|KXD1_ENST00000540691.1_Missense_Mutation_p.S17I|KXD1_ENST00000601630.1_Missense_Mutation_p.S17I	p.S17I			Q9BQD3	CS050_HUMAN			2	1510	+			17					O76098	Missense_Mutation	SNP	ENST00000602094.1	37	c.50G>T	CCDS12381.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427899	0.83667	.	.	ENSG00000105700	ENST00000540691;ENST00000539106;ENST00000222307	T;T;T	0.51071	0.72;0.72;0.72	5.4	4.37	0.52481	Uncharacterised domain KxDL (1);	0.083541	0.85682	D	0.000000	T	0.58892	0.2154	M	0.65975	2.015	0.48571	D	0.999679	D	0.61080	0.989	P	0.58077	0.832	T	0.62343	-0.6874	10	0.87932	D	0	-33.3188	9.5008	0.39017	0.1594:0.0:0.8406:0.0	.	17	Q9BQD3	CS050_HUMAN	I	17	ENSP00000443549:S17I;ENSP00000438903:S17I;ENSP00000222307:S17I	ENSP00000222307:S17I	S	+	2	0	C19orf50	18533916	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.635000	0.74295	1.283000	0.44513	0.655000	0.94253	AGC		0.597	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		3	30	1	0	0.00909568	1	0.00917477	3	30				
COL11A1	1301	broad.mit.edu	37	1	103455097	103455097	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:103455097C>T	ENST00000370096.3	-	29	2683	c.2371G>A	c.(2371-2373)Gac>Aac	p.D791N	COL11A1_ENST00000358392.2_Missense_Mutation_p.D803N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D752N|COL11A1_ENST00000512756.1_Missense_Mutation_p.D675N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	791	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCCATGTCACCTTTGAAT	0.289																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2407-2409)Gac>Aac		collagen, type XI, alpha 1							65.0	69.0	68.0					1																	103455097		2203	4296	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103455097C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2371G>A	1.37:g.103455097C>T	ENSP00000359114:p.Asp791Asn					COL11A1_ENST00000512756.1_Missense_Mutation_p.D675N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D791N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D752N	p.D803N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	29	2724	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	791			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2407G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324146	0.95708	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.94232	-3.38;-3.38;-3.25;-3.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.95595	0.8568	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.997	D;D;D;D	0.91635	0.999;0.995;0.995;0.989	D	0.95493	0.8571	10	0.87932	D	0	.	19.2483	0.93912	0.0:1.0:0.0:0.0	.	675;752;803;791	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	N	791;803;752;675	ENSP00000359114:D791N;ENSP00000351163:D803N;ENSP00000302551:D752N;ENSP00000426533:D675N	ENSP00000302551:D752N	D	-	1	0	COL11A1	103227685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.695000	0.74593	2.882000	0.98803	0.655000	0.94253	GAC		0.289	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	81	0	0	0	1	0	4	81				
ZFPM2	23414	broad.mit.edu	37	8	106431395	106431395	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:106431395G>C	ENST00000407775.2	+	2	314	c.64G>C	c.(64-66)Gat>Cat	p.D22H	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	22					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCCATTGAAGATGAGGAAGA	0.398																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(64-66)Gat>Cat		zinc finger protein, FOG family member 2							74.0	69.0	71.0					8																	106431395		1840	4098	5938	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106431395G>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.64G>C	8.37:g.106431395G>C	ENSP00000384179:p.Asp22His					ZFPM2_ENST00000520492.1_5'UTR	p.D22H	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		2	314	+			22					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.64G>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515066	0.64634	.	.	ENSG00000169946	ENST00000407775	T	0.19938	2.11	5.37	5.37	0.77165	.	0.099662	0.36628	N	0.002499	T	0.16811	0.0404	N	0.08118	0	0.80722	D	1	B	0.30021	0.265	B	0.36418	0.224	T	0.17561	-1.0365	10	0.59425	D	0.04	.	19.0988	0.93265	0.0:0.0:1.0:0.0	.	22	Q8WW38	FOG2_HUMAN	H	22	ENSP00000384179:D22H	ENSP00000384179:D22H	D	+	1	0	ZFPM2	106500571	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.374000	0.97172	2.528000	0.85240	0.591000	0.81541	GAT		0.398	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			4	83	0	0	0	1	0	4	83				
ANKRD30BP2	149992	broad.mit.edu	37	21	14417427	14417427	+	RNA	SNP	A	A	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr21:14417427A>G	ENST00000507941.1	+	0	95				RNU6-614P_ENST00000384369.1_RNA					ankyrin repeat domain 30B pseudogene 2																		AAGGTATTCAATTCAGCTGAG	0.343																																						ENST00000507941.1																			0																																																			149992							g.chr21:14417427A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14417427A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.343	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	22	0	0	0	1	0	3	22				
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	G	A	rs370497980		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr18:47527697G>A	ENST00000285039.7	-	5	839	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	180	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACGGTGGCGAAATAGCGCA	0.532																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(538-540)ttC>ttT		myosin VB		G		1,3831		0,1,1915	109.0	108.0	108.0		540	-10.6	0.3	18		108	0,8252		0,0,4126	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6041	AA,AG,GG		0.0,0.0261,0.0083		180/1849	47527697	1,12083	1916	4126	6042	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47527697G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.540C>T	18.37:g.47527697G>A							p.F180F	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	5	839	-			180			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.540C>T	CCDS42436.1																																																																																				0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			5	145	0	0	0	1	0	5	145				
ARHGAP5	394	broad.mit.edu	37	14	32561642	32561642	+	Silent	SNP	T	T	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:32561642T>C	ENST00000345122.3	+	2	2082	c.1767T>C	c.(1765-1767)gaT>gaC	p.D589D	ARHGAP5_ENST00000539826.2_Silent_p.D589D|ARHGAP5_ENST00000556611.1_Silent_p.D589D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.D589D|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	589					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATATCACGATAGTACCAATA	0.378																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(1765-1767)gaT>gaC		Rho GTPase activating protein 5							72.0	71.0	71.0					14																	32561642		2203	4298	6501	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561642T>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1767T>C	14.37:g.32561642T>C						ARHGAP5_ENST00000432921.1_Silent_p.D589D|ARHGAP5_ENST00000539826.2_Silent_p.D589D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.D589D	p.D589D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	2082	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		589					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1767T>C	CCDS32062.1																																																																																				0.378	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		11	94	0	0	0	1	0	11	94				
CLEC4E	26253	broad.mit.edu	37	12	8693383	8693383	+	Missense_Mutation	SNP	G	G	C	rs144112080	byFrequency	TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr12:8693383G>C	ENST00000299663.3	-	1	176	c.11C>G	c.(10-12)tCt>tGt	p.S4C	CLEC4E_ENST00000446457.2_Missense_Mutation_p.S4C|CLEC4E_ENST00000545274.1_Missense_Mutation_p.S4C	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	4					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AGATGATTTAGATGAATTCAT	0.368																																						ENST00000299663.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(10-12)tCt>tGt		C-type lectin domain family 4, member E							318.0	272.0	287.0					12																	8693383		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8693383G>C	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.11C>G	12.37:g.8693383G>C	ENSP00000299663:p.Ser4Cys					CLEC4E_ENST00000446457.2_Missense_Mutation_p.S4C|CLEC4E_ENST00000545274.1_Missense_Mutation_p.S4C	p.S4C	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN			1	176	-	Lung SC(5;0.184)		4					B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.11C>G	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438606	0.43326	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.39592	4.07;1.07	3.83	3.83	0.44106	.	0.501896	0.17036	N	0.189528	T	0.48960	0.1529	L	0.44542	1.39	0.09310	N	1	D	0.67145	0.996	P	0.57371	0.819	T	0.34204	-0.9838	10	0.72032	D	0.01	.	11.5357	0.50636	0.0:0.0:1.0:0.0	.	4	Q9ULY5	CLC4E_HUMAN	C	4	ENSP00000299663:S4C;ENSP00000443034:S4C	ENSP00000299663:S4C	S	-	2	0	CLEC4E	8584650	0.056000	0.20664	0.080000	0.20451	0.046000	0.14306	2.136000	0.42121	2.442000	0.82660	0.591000	0.81541	TCT		0.368	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		13	151	0	0	0	1	0	13	151				
ZC3H10	84872	broad.mit.edu	37	12	56514873	56514873	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr12:56514873G>A	ENST00000257940.2	+	3	803	c.527G>A	c.(526-528)gGc>gAc	p.G176D	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	176	Poly-Gly.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ACTGGTGGGGGCTCAACAGGC	0.552																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(526-528)gGc>gAc		zinc finger CCCH-type containing 10							68.0	67.0	67.0					12																	56514873		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56514873G>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.527G>A	12.37:g.56514873G>A	ENSP00000257940:p.Gly176Asp					RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	p.G176D	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	803	+			176			Poly-Gly.			Missense_Mutation	SNP	ENST00000257940.2	37	c.527G>A	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446633	0.25987	.	.	ENSG00000135482	ENST00000257940	.	.	.	4.89	3.98	0.46160	.	0.066588	0.56097	D	0.000022	T	0.29652	0.0740	N	0.08118	0	0.80722	D	1	P	0.34662	0.462	B	0.27887	0.084	T	0.12243	-1.0555	9	0.29301	T	0.29	-13.4968	14.3272	0.66528	0.0:0.15:0.85:0.0	.	176	Q96K80	ZC3HA_HUMAN	D	176	.	ENSP00000257940:G176D	G	+	2	0	ZC3H10	54801140	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	4.605000	0.61119	1.400000	0.46741	0.591000	0.81541	GGC		0.552	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		4	101	0	0	0	1	0	4	101				
PLA2G4F	255189	broad.mit.edu	37	15	42437787	42437787	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr15:42437787C>T	ENST00000382396.4	-	16	1852	c.1766G>A	c.(1765-1767)aGt>aAt	p.S589N	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.S591N			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	589	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GATATTCACACTGCCTCTGTA	0.597																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1771-1773)aGt>aAt		phospholipase A2, group IVF							104.0	111.0	109.0					15																	42437787		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42437787C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1766G>A	15.37:g.42437787C>T	ENSP00000371833:p.Ser589Asn					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.S589N	p.S591N	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	16	1863	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	589			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1772G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778404	0.31502	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.13657	2.57;2.57	5.0	0.907	0.19321	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.880578	0.10030	N	0.724875	T	0.07369	0.0186	N	0.14661	0.345	0.09310	N	1	P;P	0.36354	0.549;0.549	B;B	0.40329	0.326;0.326	T	0.31861	-0.9928	10	0.23302	T	0.38	-0.0401	1.0661	0.01611	0.1934:0.4262:0.1262:0.2542	.	376;589	A2RRC4;Q68DD2	.;PA24F_HUMAN	N	585;591;589;589	ENSP00000380442:S591N;ENSP00000371833:S589N	ENSP00000290497:S585N	S	-	2	0	PLA2G4F	40225079	0.000000	0.05858	0.005000	0.12908	0.279000	0.26890	-0.105000	0.10907	0.233000	0.21120	0.484000	0.47621	AGT		0.597	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		15	200	0	0	0	1	0	15	200				
GPR22	2845	broad.mit.edu	37	7	107114812	107114812	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr7:107114812C>T	ENST00000304402.4	+	3	1650	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	103					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TATAGTTATCCTTCTGCTTTC	0.358																																						ENST00000304402.4																			0				large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						c.(307-309)Ctt>Ttt		G protein-coupled receptor 22							138.0	134.0	135.0					7																	107114812		2203	4299	6502	SO:0001583	missense	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107114812C>T	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.307C>T	7.37:g.107114812C>T	ENSP00000302676:p.Leu103Phe					COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron	p.L103F	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN			3	1650	+			103					O14554	Missense_Mutation	SNP	ENST00000304402.4	37	c.307C>T	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621864	0.46840	.	.	ENSG00000172209	ENST00000304402	T	0.38240	1.15	5.39	5.39	0.77823	GPCR, rhodopsin-like superfamily (1);	0.120963	0.56097	D	0.000027	T	0.43656	0.1257	L	0.42245	1.32	0.53005	D	0.999966	P	0.49307	0.922	P	0.49252	0.604	T	0.20907	-1.0261	10	0.45353	T	0.12	-9.25	19.5108	0.95140	0.0:1.0:0.0:0.0	.	103	Q99680	GPR22_HUMAN	F	103	ENSP00000302676:L103F	ENSP00000302676:L103F	L	+	1	0	GPR22	106902048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.140000	0.31516	2.670000	0.90874	0.650000	0.86243	CTT		0.358	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			6	158	0	0	0	1	0	6	158				
CCDC18	343099	broad.mit.edu	37	1	93682201	93682201	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:93682201G>C	ENST00000343253.7	+	13	2227	c.1725G>C	c.(1723-1725)aaG>aaC	p.K575N	CCDC18_ENST00000338949.4_Missense_Mutation_p.K375N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.K576N|CCDC18_ENST00000557479.1_Missense_Mutation_p.K694N			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	575										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGATGACAAAGAAATGTTCTC	0.313																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1723-1725)aaG>aaC		coiled-coil domain containing 18							52.0	50.0	51.0					1																	93682201		1802	4063	5865	SO:0001583	missense	343099							g.chr1:93682201G>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1725G>C	1.37:g.93682201G>C	ENSP00000343377:p.Lys575Asn					CCDC18_ENST00000557479.1_Missense_Mutation_p.K694N|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Missense_Mutation_p.K375N|CCDC18_ENST00000401026.3_Missense_Mutation_p.K576N	p.K575N			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	13	2227	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	575					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1725G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.153103|3.153103	0.57259|0.57259	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267|ENST00000370276	T;T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37;2.37|.	5.49|5.49	3.59|3.59	0.41128|0.41128	.|.	0.102348|.	0.64402|.	D|.	0.000003|.	T|T	0.52256|0.52256	0.1723|0.1723	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.971;0.999|.	P;D|.	0.63283|.	0.714;0.913|.	T|T	0.53330|0.53330	-0.8454|-0.8454	10|5	0.40728|.	T|.	0.16|.	.|.	12.887|12.887	0.58049|0.58049	0.1387:0.0:0.8613:0.0|0.1387:0.0:0.8613:0.0	.|.	575;694|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	N|T	575;576;694;375;295|629	ENSP00000343377:K575N;ENSP00000383808:K576N;ENSP00000451099:K694N;ENSP00000344380:K375N;ENSP00000391151:K295N|.	ENSP00000344380:K375N|.	K|R	+|+	3|2	2|0	CCDC18|CCDC18	93454789|93454789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.803000|1.803000	0.38863|0.38863	1.456000|1.456000	0.47831|0.47831	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.313	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		7	118	0	0	0	1	0	7	118				
SCN3B	55800	broad.mit.edu	37	11	123516408	123516408	+	Missense_Mutation	SNP	C	C	T	rs147803210		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr11:123516408C>T	ENST00000392770.2	-	2	908	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	SCN3B_ENST00000530277.1_Missense_Mutation_p.V36M|SCN3B_ENST00000299333.3_Missense_Mutation_p.V36M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	36	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCCCTGCACGGCCTCCGTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19902	0.001		0.0	False		,,,				2504	0.0					ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(106-108)Gtg>Atg		sodium channel, voltage-gated, type III, beta subunit							107.0	102.0	104.0					11																	123516408		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516408C>T	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.106G>A	11.37:g.123516408C>T	ENSP00000376523:p.Val36Met					SCN3B_ENST00000530277.1_Missense_Mutation_p.V36M|SCN3B_ENST00000299333.3_Missense_Mutation_p.V36M	p.V36M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	2	908	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	36			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.106G>A	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276094	0.95459	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.052335	0.85682	D	0.000000	D	0.83004	0.5160	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.82061	-0.0644	10	0.49607	T	0.09	0.229	20.4182	0.99029	0.0:1.0:0.0:0.0	.	36	Q9NY72	SCN3B_HUMAN	M	36	ENSP00000376523:V36M;ENSP00000299333:V36M;ENSP00000432785:V36M;ENSP00000435554:V36M;ENSP00000434363:V36M	ENSP00000299333:V36M	V	-	1	0	SCN3B	123021618	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	7.481000	0.81124	2.820000	0.97059	0.609000	0.83330	GTG		0.627	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		17	126	0	0	0	1	0	17	126				
FBXL5	26234	broad.mit.edu	37	4	15627482	15627482	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:15627482G>C	ENST00000341285.3	-	9	1367	c.1243C>G	c.(1243-1245)Caa>Gaa	p.Q415E	FBXL5_ENST00000412094.2_Missense_Mutation_p.Q398E|FBXL5_ENST00000382358.4_Missense_Mutation_p.Q289E	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	415					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAGCCACTTTGATGAGATGTC	0.423																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1243-1245)Caa>Gaa		F-box and leucine-rich repeat protein 5							59.0	59.0	59.0					4																	15627482		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15627482G>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1243C>G	4.37:g.15627482G>C	ENSP00000344866:p.Gln415Glu					FBXL5_ENST00000382358.4_Missense_Mutation_p.Q289E|FBXL5_ENST00000412094.2_Missense_Mutation_p.Q398E	p.Q415E	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			9	1367	-			415					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1243C>G	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.020|8.020	0.759396|0.759396	0.15846|0.15846	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358|ENST00000513163	T;T;T|.	0.16196|.	2.36;2.36;2.36|.	5.71|5.71	2.64|2.64	0.31445|0.31445	.|.	0.735454|.	0.13734|.	N|.	0.366474|.	T|.	0.18130|.	0.0435|.	N|N	0.08118|0.08118	0|0	0.22096|0.22096	N|N	0.999368|0.999368	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|.	0.25082|.	-1.0142|.	10|.	0.02654|.	T|.	1|.	-1.7185|-1.7185	7.7605|7.7605	0.28948|0.28948	0.0:0.3212:0.3565:0.3223|0.0:0.3212:0.3565:0.3223	.|.	398;415|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	E|X	415;398;289|335	ENSP00000344866:Q415E;ENSP00000408679:Q398E;ENSP00000371795:Q289E|.	ENSP00000344866:Q415E|.	Q|S	-|-	1|2	0|0	FBXL5|FBXL5	15236580|15236580	0.968000|0.968000	0.33430|0.33430	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	1.594000|1.594000	0.36697|0.36697	0.708000|0.708000	0.31955|0.31955	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.423	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			12	136	0	0	0	1	0	12	136				
PCDHAC1	56135	broad.mit.edu	37	5	140308207	140308207	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:140308207G>T	ENST00000253807.2	+	1	1730	c.1730G>T	c.(1729-1731)gGa>gTa	p.G577V	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G577V|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	577	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGGACTGGACACTTGGTC	0.493																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1729-1731)gGa>gTa									109.0	113.0	112.0					5																	140308207		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140308207G>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1730G>T	5.37:g.140308207G>T	ENSP00000253807:p.Gly577Val					PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G577V|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.G577V	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1730	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1730G>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400815	0.62177	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.69175	-0.38;-0.38	5.95	5.07	0.68467	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.88081	0.6341	H	0.98965	4.385	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.90645	0.4578	9	0.87932	D	0	.	10.0725	0.42341	0.1928:0.0:0.8072:0.0	.	577;577	Q9H158;Q9H158-2	PCDC1_HUMAN;.	V	577	ENSP00000386356:G577V;ENSP00000253807:G577V	ENSP00000253807:G577V	G	+	2	0	PCDHAC1	140288391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.612000	0.61169	1.491000	0.48482	0.563000	0.77884	GGA		0.493	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		20	158	1	0	4.35082e-09	1	4.6731e-09	20	158				
NOM1	64434	broad.mit.edu	37	7	156743149	156743149	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr7:156743149G>A	ENST00000275820.3	+	1	733	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	240	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E240*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAGGAGGAGGAAGATGCCGG	0.552																																						ENST00000275820.3																			1	Substitution - Nonsense(1)	p.E240*(1)	large_intestine(1)	endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(718-720)Gaa>Aaa		nucleolar protein with MIF4G domain 1							76.0	76.0	76.0					7																	156743149		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743149G>A	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.718G>A	7.37:g.156743149G>A	ENSP00000275820:p.Glu240Lys						p.E240K	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	733	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	240			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.718G>A	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677290	0.68042	.	.	ENSG00000146909	ENST00000275820	T	0.13538	2.58	4.12	3.24	0.37175	.	0.587370	0.16155	N	0.227077	T	0.09512	0.0234	L	0.36672	1.1	0.30450	N	0.775347	P	0.39480	0.675	B	0.33960	0.173	T	0.08597	-1.0714	10	0.13470	T	0.59	.	11.7639	0.51920	0.0862:0.0:0.9138:0.0	.	240	Q5C9Z4	NOM1_HUMAN	K	240	ENSP00000275820:E240K	ENSP00000275820:E240K	E	+	1	0	NOM1	156435910	0.977000	0.34250	0.728000	0.30774	0.670000	0.39368	1.990000	0.40717	0.937000	0.37394	0.650000	0.86243	GAA		0.552	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		6	122	0	0	0	1	0	6	122				
DCLK2	166614	broad.mit.edu	37	4	151124979	151124979	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:151124979C>T	ENST00000296550.7	+	5	1748	c.994C>T	c.(994-996)Cct>Tct	p.P332S	DCLK2_ENST00000302176.8_Missense_Mutation_p.P349S|DCLK2_ENST00000506325.1_Missense_Mutation_p.P332S	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	332	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTTTCTACTCCTAAATCTAC	0.403																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(994-996)Cct>Tct		doublecortin-like kinase 2							121.0	111.0	114.0					4																	151124979		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151124979C>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.994C>T	4.37:g.151124979C>T	ENSP00000296550:p.Pro332Ser					DCLK2_ENST00000302176.8_Missense_Mutation_p.P349S|DCLK2_ENST00000506325.1_Missense_Mutation_p.P332S	p.P332S	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			5	1748	+	all_hematologic(180;0.151)		332			Ser-rich.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.994C>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155495	0.78114	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.69435	0.93;0.93;-0.4	5.88	5.88	0.94601	.	0.050069	0.85682	D	0.000000	T	0.76104	0.3941	M	0.62723	1.935	0.58432	D	0.999991	P;P;B	0.48162	0.906;0.775;0.102	P;B;B	0.52909	0.713;0.306;0.045	T	0.76825	-0.2816	10	0.62326	D	0.03	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	349;332;332	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	S	332;332;349	ENSP00000296550:P332S;ENSP00000427235:P332S;ENSP00000303887:P349S	ENSP00000296550:P332S	P	+	1	0	DCLK2	151344429	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.045000	0.71020	2.779000	0.95612	0.637000	0.83480	CCT		0.403	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		15	135	0	0	0	1	0	15	135				
LPAR2	9170	broad.mit.edu	37	19	19737971	19737971	+	Silent	SNP	G	G	C	rs201065881		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:19737971G>C	ENST00000542587.1	-	5	1025	c.123C>G	c.(121-123)acC>acG	p.T41T	LPAR2_ENST00000407877.3_Silent_p.T41T|LPAR2_ENST00000586703.1_Silent_p.T41T|LPAR2_ENST00000589311.1_5'Flank			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	41					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCACGCTGACGGTCAGCCCCA	0.592																																						ENST00000542587.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(121-123)acC>acG		lysophosphatidic acid receptor 2							32.0	30.0	31.0					19																	19737971		2203	4300	6503	SO:0001819	synonymous_variant	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737971G>C	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.123C>G	19.37:g.19737971G>C						LPAR2_ENST00000407877.3_Silent_p.T41T|LPAR2_ENST00000586703.1_Silent_p.T41T	p.T41T			Q9HBW0	LPAR2_HUMAN			5	1025	-			41					O00543|O43431	Silent	SNP	ENST00000542587.1	37	c.123C>G	CCDS12407.1																																																																																				0.592	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		5	52	0	0	0	1	0	5	52				
LCOR	84458	broad.mit.edu	37	10	98711951	98711951	+	Silent	SNP	C	C	T	rs563114887		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr10:98711951C>T	ENST00000371097.4	+	7	876	c.330C>T	c.(328-330)aaC>aaT	p.N110N	LCOR_ENST00000356016.3_Silent_p.N110N|LCOR_ENST00000371103.3_Silent_p.N110N|LCOR_ENST00000540664.1_Silent_p.N110N|LCOR_ENST00000498444.1_3'UTR			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	110					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTCAAGGGAACGGGTAAGGGA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		17427	0.001		0.0	False		,,,				2504	0.0					ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(328-330)aaC>aaT		ligand dependent nuclear receptor corepressor							79.0	80.0	79.0					10																	98711951		2203	4300	6503	SO:0001819	synonymous_variant	84458							g.chr10:98711951C>T		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.330C>T	10.37:g.98711951C>T						LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371097.4_Silent_p.N110N|LCOR_ENST00000356016.3_Silent_p.N110N|LCOR_ENST00000371103.3_Silent_p.N110N	p.N110N	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	7	873	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	ENST00000371097.4	37	c.330C>T	CCDS7451.1																																																																																				0.438	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			5	76	0	0	0	1	0	5	76				
RDH10	157506	broad.mit.edu	37	8	74235183	74235183	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:74235183G>A	ENST00000240285.5	+	6	1616	c.938G>A	c.(937-939)cGg>cAg	p.R313Q	RDH10_ENST00000519380.1_Missense_Mutation_p.R148Q|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	313					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGCATGTATCGGTTCCTAGGA	0.403																																						ENST00000240285.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(937-939)cGg>cAg		retinol dehydrogenase 10 (all-trans)							88.0	79.0	82.0					8																	74235183		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74235183G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.938G>A	8.37:g.74235183G>A	ENSP00000240285:p.Arg313Gln					RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R148Q|RP11-434I12.2_ENST00000514599.1_RNA	p.R313Q	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		6	1616	+	Breast(64;0.0954)		313						Missense_Mutation	SNP	ENST00000240285.5	37	c.938G>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260553	0.80246	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.90004	-2.6;0.67	5.55	5.55	0.83447	.	0.057317	0.64402	D	0.000001	D	0.87641	0.6228	L	0.47016	1.485	0.80722	D	1	D	0.63880	0.993	P	0.45119	0.47	D	0.85691	0.1307	10	0.29301	T	0.29	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	313	Q8IZV5	RDH10_HUMAN	Q	313;148	ENSP00000240285:R313Q;ENSP00000428132:R148Q	ENSP00000240285:R313Q	R	+	2	0	RDH10	74397737	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.657000	0.98554	2.894000	0.99253	0.591000	0.81541	CGG		0.403	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			8	106	0	0	0	1	0	8	106				
SLC12A4	6560	broad.mit.edu	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	rs370220716		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000338335.3_Intron	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2365-2367)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56.0	57.0	57.0		2359,2365,2341,2266,2359	2.2	1.0	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980419G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp					SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W	p.R789W	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2404	-		Ovarian(137;0.192)	787					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2365C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		4	103	0	0	0	1	0	4	103				
XRN1	54464	broad.mit.edu	37	3	142078760	142078760	+	Silent	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:142078760G>A	ENST00000264951.4	-	30	3525	c.3408C>T	c.(3406-3408)gcC>gcT	p.A1136A	XRN1_ENST00000392981.2_Silent_p.A1136A	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1136					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAGTACATCGGCTTCTCTAT	0.313																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(3406-3408)gcC>gcT		5'-3' exoribonuclease 1							66.0	68.0	67.0					3																	142078760		2203	4299	6502	SO:0001819	synonymous_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142078760G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3408C>T	3.37:g.142078760G>A						XRN1_ENST00000392981.2_Silent_p.A1136A	p.A1136A	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			30	3525	-			1136					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	c.3408C>T	CCDS3123.1																																																																																				0.313	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	71	0	0	0	1	0	5	71				
UGT2A1	10941	broad.mit.edu	37	4	70455336	70455336	+	Silent	SNP	A	A	T	rs371649258		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:70455336A>T	ENST00000503640.1	-	6	1393	c.1338T>A	c.(1336-1338)atT>atA	p.I446I	UGT2A2_ENST00000457664.2_Silent_p.I455I|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Silent_p.I446I|UGT2A1_ENST00000514019.1_Silent_p.I612I|UGT2A1_ENST00000512704.1_Silent_p.I402I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	446					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATCATGGTGAATTCTTGATA	0.393																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1336-1338)atT>atA		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							96.0	101.0	100.0					4																	70455336		2203	4300	6503	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455336A>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1338T>A	4.37:g.70455336A>T						UGT2A1_ENST00000512704.1_Silent_p.I402I|UGT2A1_ENST00000514019.1_Silent_p.I612I|UGT2A2_ENST00000457664.2_Silent_p.I455I|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Silent_p.I446I	p.I446I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			6	1393	-			446					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.1338T>A	CCDS3529.1																																																																																				0.393	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		32	244	0	0	0	1	0	32	244				
ALDOA	226	broad.mit.edu	37	16	30080251	30080251	+	Silent	SNP	C	C	T	rs11553120		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:30080251C>T	ENST00000566897.1	+	8	1644	c.492C>T	c.(490-492)atC>atT	p.I164I	ALDOA_ENST00000564595.2_Silent_p.I218I|ALDOA_ENST00000338110.5_Silent_p.I164I|ALDOA_ENST00000564546.1_Silent_p.I164I|ALDOA_ENST00000412304.2_Silent_p.I164I|ALDOA_ENST00000395248.1_Silent_p.I218I|ALDOA_ENST00000569545.1_Silent_p.I164I|ALDOA_ENST00000563060.2_Silent_p.I164I|ALDOA_ENST00000395240.3_Silent_p.I164I|ALDOA_ENST00000569798.1_Silent_p.I164I			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	164					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTCGCCATCATGGAAAATG	0.562											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000566897.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(490-492)atC>atT		aldolase A, fructose-bisphosphate							93.0	87.0	89.0					16																	30080251		2197	4300	6497	SO:0001819	synonymous_variant	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30080251C>T	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.492C>T	16.37:g.30080251C>T			OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	ALDOA_ENST00000564546.1_Silent_p.I164I|ALDOA_ENST00000564595.2_Silent_p.I218I|ALDOA_ENST00000338110.5_Silent_p.I164I|ALDOA_ENST00000412304.2_Silent_p.I164I|ALDOA_ENST00000395240.3_Silent_p.I164I|ALDOA_ENST00000569798.1_Silent_p.I164I|ALDOA_ENST00000563060.2_Silent_p.I164I|ALDOA_ENST00000569545.1_Silent_p.I164I|ALDOA_ENST00000395248.1_Silent_p.I218I	p.I164I			P04075	ALDOA_HUMAN			8	1644	+			164					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	c.492C>T	CCDS10668.1																																																																																				0.562	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		14	102	0	0	0	1	0	14	102				
CENPQ	55166	broad.mit.edu	37	6	49448713	49448713	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr6:49448713G>A	ENST00000335783.3	+	6	491	c.397G>A	c.(397-399)Gat>Aat	p.D133N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	133					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAAGATGGAAGATTTAACTAA	0.323																																						ENST00000335783.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11						c.(397-399)Gat>Aat		centromere protein Q							100.0	104.0	103.0					6																	49448713		2203	4300	6503	SO:0001583	missense	55166				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr6:49448713G>A	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.397G>A	6.37:g.49448713G>A	ENSP00000337289:p.Asp133Asn						p.D133N	NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN			6	491	+	Lung NSC(77;0.0128)		133					A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	c.397G>A	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.352477	0.01256	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.44881	0.91	5.83	-0.0272	0.13927	.	0.534284	0.19868	N	0.104273	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	0.99999	B	0.15141	0.012	B	0.14578	0.011	T	0.32955	-0.9887	10	0.02654	T	1	-2.5848	0.4642	0.00521	0.3405:0.1507:0.3084:0.2005	.	133	Q7L2Z9	CENPQ_HUMAN	N	133	ENSP00000337289:D133N	ENSP00000337289:D133N	D	+	1	0	CENPQ	49556672	0.197000	0.23362	0.425000	0.26659	0.071000	0.16799	0.248000	0.18198	0.113000	0.18004	0.644000	0.83932	GAT		0.323	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		13	105	0	0	0	1	0	13	105				
PRKCH	5583	broad.mit.edu	37	14	61915942	61915942	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:61915942A>G	ENST00000332981.5	+	5	1059	c.674A>G	c.(673-675)cAa>cGa	p.Q225R	PRKCH_ENST00000555082.1_Missense_Mutation_p.Q64R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	225					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGTACTTGCCAAAACAATATT	0.408																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(673-675)cAa>cGa		protein kinase C, eta							178.0	164.0	169.0					14																	61915942		2203	4300	6503	SO:0001583	missense	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61915942A>G	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.674A>G	14.37:g.61915942A>G	ENSP00000329127:p.Gln225Arg					PRKCH_ENST00000555082.1_Missense_Mutation_p.Q64R	p.Q225R	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	5	1059	+			225					B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	c.674A>G	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766355	0.31228	.	.	ENSG00000027075	ENST00000556778;ENST00000555906;ENST00000332981;ENST00000555082;ENST00000553831;ENST00000553265;ENST00000556164;ENST00000557585;ENST00000557473	D;D;D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.76	5.76	0.90799	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.085825	0.50627	D	0.000120	D	0.83408	0.5248	N	0.08118	0	0.40801	D	0.983342	B	0.09022	0.002	B	0.15052	0.012	T	0.79097	-0.1943	10	0.18710	T	0.47	.	16.0816	0.81007	1.0:0.0:0.0:0.0	.	225	P24723	KPCL_HUMAN	R	64;64;225;64;64;64;64;64;64	ENSP00000452055:Q64R;ENSP00000451205:Q64R;ENSP00000329127:Q225R;ENSP00000450981:Q64R;ENSP00000450959:Q64R;ENSP00000451933:Q64R;ENSP00000452330:Q64R;ENSP00000451930:Q64R;ENSP00000452528:Q64R	ENSP00000329127:Q225R	Q	+	2	0	PRKCH	60985695	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.062000	0.57492	2.211000	0.71520	0.454000	0.30748	CAA		0.408	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		9	91	0	0	0	1	0	9	91				
G6PD	2539	broad.mit.edu	37	X	153762677	153762677	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chrX:153762677C>T	ENST00000393564.2	-	6	632	c.520G>A	c.(520-522)Ggg>Agg	p.G174R	G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Missense_Mutation_p.G174R|G6PD_ENST00000393562.2_Missense_Mutation_p.G204R	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	174					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTCCCTCCCGAAGGGCTTC	0.617																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(610-612)Ggg>Agg		glucose-6-phosphate dehydrogenase							81.0	68.0	73.0					X																	153762677		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153762677C>T	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.520G>A	X.37:g.153762677C>T	ENSP00000377194:p.Gly174Arg					G6PD_ENST00000393564.2_Missense_Mutation_p.G174R|G6PD_ENST00000369620.2_Missense_Mutation_p.G174R	p.G204R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			6	993	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		174					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.610G>A	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158276	0.78114	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.65	4.79	0.61399	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.99910	0.9957	H	0.99851	4.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96312	0.9229	10	0.87932	D	0	.	11.3761	0.49728	0.0:0.9102:0.0:0.0898	.	174;204	P11413;P11413-3	G6PD_HUMAN;.	R	204;174;174;174;175;175;174	ENSP00000377192:G204R;ENSP00000377194:G174R;ENSP00000358633:G174R;ENSP00000395599:G175R;ENSP00000400648:G175R;ENSP00000394690:G174R	ENSP00000291567:G174R	G	-	1	0	G6PD	153415871	1.000000	0.71417	0.956000	0.39512	0.683000	0.39861	7.518000	0.81795	1.146000	0.42352	-0.322000	0.08575	GGG		0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		14	44	0	0	0	1	0	14	44				
KLHL3	26249	broad.mit.edu	37	5	137056200	137056200	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:137056200G>A	ENST00000309755.4	-	2	531	c.88C>T	c.(88-90)Cct>Tct	p.P30S	KLHL3_ENST00000508657.1_5'UTR|KLHL3_ENST00000394937.3_Missense_Mutation_p.P30S	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	30					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATGTGGGCAGGGTTGACAGTG	0.507																																						ENST00000309755.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(88-90)Cct>Tct		kelch-like family member 3							176.0	156.0	163.0					5																	137056200		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:137056200G>A	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.88C>T	5.37:g.137056200G>A	ENSP00000312397:p.Pro30Ser					KLHL3_ENST00000394937.3_Missense_Mutation_p.P30S|KLHL3_ENST00000508657.1_5'UTR	p.P30S	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	2	531	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	30					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.88C>T	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036260	0.35893	.	.	ENSG00000146021	ENST00000309755;ENST00000394937	T;T	0.70749	-0.51;-0.51	5.65	1.5	0.22942	BTB/POZ fold (2);	0.342692	0.31156	N	0.008146	T	0.40171	0.1106	N	0.08118	0	0.28736	N	0.902243	B	0.15930	0.015	B	0.12156	0.007	T	0.24977	-1.0145	10	0.07325	T	0.83	.	5.2944	0.15745	0.2426:0.2742:0.4832:0.0	.	30	Q9UH77	KLHL3_HUMAN	S	30	ENSP00000312397:P30S;ENSP00000378395:P30S	ENSP00000312397:P30S	P	-	1	0	KLHL3	137084099	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	1.390000	0.34464	0.278000	0.22164	0.467000	0.42956	CCT		0.507	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			7	89	0	0	0	1	0	7	89				
NECAB2	54550	broad.mit.edu	37	16	84027968	84027968	+	Missense_Mutation	SNP	G	G	T	rs146128471	byFrequency	TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:84027968G>T	ENST00000305202.4	+	7	675	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S	NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000565691.1_Missense_Mutation_p.A137S	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	220						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCCCACTCCCGCCTCTGCCCC	0.612																																						ENST00000565691.1																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(409-411)Gcc>Tcc		N-terminal EF-hand calcium binding protein 2							56.0	55.0	55.0					16																	84027968		2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84027968G>T	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.658G>T	16.37:g.84027968G>T	ENSP00000307449:p.Ala220Ser					NECAB2_ENST00000305202.4_Missense_Mutation_p.A220S|NECAB2_ENST00000567703.1_3'UTR	p.A137S			Q7Z6G3	NECA2_HUMAN			5	1131	+			220					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.409G>T	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	g	1.338	-0.594875	0.03771	.	.	ENSG00000103154	ENST00000305202	T	0.16324	2.35	4.58	-1.51	0.08664	.	0.688531	0.14784	N	0.298607	T	0.03178	0.0093	N	0.00841	-1.15	0.09310	N	1	B	0.23937	0.094	B	0.17433	0.018	T	0.40739	-0.9547	10	0.10902	T	0.67	-8.317	2.7955	0.05400	0.3689:0.2961:0.2496:0.0853	.	220	Q7Z6G3	NECA2_HUMAN	S	220	ENSP00000307449:A220S	ENSP00000307449:A220S	A	+	1	0	NECAB2	82585469	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.535000	0.23114	-0.094000	0.12374	-0.762000	0.03455	GCC		0.612	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		15	38	1	0	1.33834e-09	1	1.45091e-09	15	38				
TTLL3	26140	broad.mit.edu	37	3	9868709	9868709	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:9868709G>T	ENST00000547186.1	+	9	1119	c.903G>T	c.(901-903)gaG>gaT	p.E301D	TTLL3_ENST00000427853.3_Missense_Mutation_p.E89D|TTLL3_ENST00000455274.1_Missense_Mutation_p.E89D|TTLL3_ENST00000383827.1_Missense_Mutation_p.E89D|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.E444D|TTLL3_ENST00000430793.1_Missense_Mutation_p.E89D|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E362D|TTLL3_ENST00000397241.1_Missense_Mutation_p.E89D	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	301	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACCTGGAGGAGATGCTGAAGC	0.587																																						ENST00000383827.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(265-267)gaG>gaT		tubulin tyrosine ligase-like family, member 3							164.0	145.0	151.0					3																	9868709		2203	4300	6503	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9868709G>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.903G>T	3.37:g.9868709G>T	ENSP00000446659:p.Glu301Asp					TTLL3_ENST00000430793.1_Missense_Mutation_p.E89D|TTLL3_ENST00000427853.3_Missense_Mutation_p.E89D|TTLL3_ENST00000426895.4_Missense_Mutation_p.E444D|TTLL3_ENST00000397241.1_Missense_Mutation_p.E89D|TTLL3_ENST00000547186.1_Missense_Mutation_p.E301D|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E362D|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000455274.1_Missense_Mutation_p.E89D	p.E89D			Q9Y4R7	TTLL3_HUMAN			3	2548	+	Medulloblastoma(99;0.227)		301					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.267G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.38|13.38	2.220682|2.220682	0.39201|0.39201	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252|ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	.|T;T;T;T;T;T;T;T;T	.|0.09350	.|2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.09|5.09	2.16|2.16	0.27623|0.27623	.|.	.|0.490753	.|0.18659	.|U	.|0.134773	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.12182|0.12182	0.205|0.205	0.32849|0.32849	D|D	0.506409|0.506409	.|B;B;B;B;B;B	.|0.33964	.|0.015;0.003;0.026;0.024;0.015;0.434	.|B;B;B;B;B;B	.|0.38683	.|0.048;0.017;0.07;0.029;0.086;0.279	T|T	0.30650|0.30650	-0.9971|-0.9971	5|10	.|0.06236	.|T	.|0.91	.|.	4.9024|4.9024	0.13781|0.13781	0.3208:0.1481:0.531:0.0|0.3208:0.1481:0.531:0.0	.|.	.|240;89;89;89;301;362	.|B4DM47;Q9Y4R7-2;B2RCJ2;Q9Y4R7-5;Q9Y4R7;E7ETI0	.|.;.;.;.;TTLL3_HUMAN;.	Y|D	257|362;444;301;89;89;239;89;89;89	.|ENSP00000380427:E362D;ENSP00000392549:E444D;ENSP00000446659:E301D;ENSP00000380416:E89D;ENSP00000394462:E89D;ENSP00000398097:E239D;ENSP00000373338:E89D;ENSP00000409632:E89D;ENSP00000403874:E89D	.|ENSP00000380416:E89D	D|E	+|+	1|3	0|2	TTLL3|ARPC4-TTLL3;TTLL3	9843709|9843709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	1.922000|1.922000	0.40045|0.40045	0.549000|0.549000	0.28973|0.28973	0.557000|0.557000	0.71058|0.71058	GAT|GAG		0.587	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		4	104	1	0	0.00909568	1	0.00917477	4	104				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	71	0	0	0	1	0	4	71				
GMIP	51291	broad.mit.edu	37	19	19749229	19749229	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:19749229C>T	ENST00000203556.4	-	8	737	c.600G>A	c.(598-600)atG>atA	p.M200I	GMIP_ENST00000445806.2_Missense_Mutation_p.M200I|GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Missense_Mutation_p.M200I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	200					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTGCTCCTTCATCCACTGCT	0.597																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(598-600)atG>atA		GEM interacting protein							168.0	119.0	136.0					19																	19749229		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19749229C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.600G>A	19.37:g.19749229C>T	ENSP00000203556:p.Met200Ile					GMIP_ENST00000587238.1_Missense_Mutation_p.M200I|GMIP_ENST00000445806.2_Missense_Mutation_p.M200I	p.M200I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			8	737	-			200					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.600G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	7.251	0.603315	0.14002	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.41065	1.01;1.01	4.18	-0.692	0.11301	.	2.112350	0.02227	N	0.064566	T	0.27559	0.0677	N	0.25647	0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09122	-1.0689	10	0.30078	T	0.28	-0.0037	2.1629	0.03829	0.1475:0.4932:0.1574:0.2019	.	200;200;200	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	I	200	ENSP00000203556:M200I;ENSP00000397075:M200I	ENSP00000203556:M200I	M	-	3	0	GMIP	19610229	0.000000	0.05858	0.848000	0.33437	0.974000	0.67602	-0.461000	0.06712	0.083000	0.17047	0.491000	0.48974	ATG		0.597	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	42	0	0	0	1	0	4	42				
SEMA3G	56920	broad.mit.edu	37	3	52469713	52469713	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:52469713C>T	ENST00000231721.2	-	16	2254	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	752					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCAGCTCTTGCCCCTGGCCTG	0.677																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(2254-2256)gGc>gAc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							52.0	59.0	57.0					3																	52469713		2203	4299	6502	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52469713C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.2255G>A	3.37:g.52469713C>T	ENSP00000231721:p.Gly752Asp						p.G752D	NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	16	2254	-			752					Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.2255G>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900062	0.52227	.	.	ENSG00000010319	ENST00000231721	D	0.84944	-1.92	4.84	2.9	0.33743	.	0.413183	0.24481	N	0.038154	T	0.81664	0.4870	M	0.61703	1.905	0.41063	D	0.985392	B	0.34241	0.444	B	0.33454	0.164	T	0.78821	-0.2053	10	0.22109	T	0.4	.	14.5527	0.68078	0.0:0.5935:0.4065:0.0	.	752	Q9NS98	SEM3G_HUMAN	D	752	ENSP00000231721:G752D	ENSP00000231721:G752D	G	-	2	0	SEMA3G	52444753	0.755000	0.28372	1.000000	0.80357	0.994000	0.84299	0.912000	0.28597	1.227000	0.43598	0.650000	0.86243	GGC		0.677	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		4	72	0	0	0	1	0	4	72				
TIMELESS	8914	broad.mit.edu	37	12	56814876	56814876	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr12:56814876G>C	ENST00000553532.1	-	24	3061	c.2911C>G	c.(2911-2913)Ctg>Gtg	p.L971V	TIMELESS_ENST00000554616.1_Missense_Mutation_p.L468V|TIMELESS_ENST00000229201.4_Missense_Mutation_p.L970V					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCTTCTTCCAGATCTTCCTGG	0.473																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2908-2910)Ctg>Gtg		timeless circadian clock							94.0	94.0	94.0					12																	56814876		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56814876G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2911C>G	12.37:g.56814876G>C	ENSP00000450607:p.Leu971Val					TIMELESS_ENST00000553532.1_Missense_Mutation_p.L971V|TIMELESS_ENST00000554616.1_Missense_Mutation_p.L468V	p.L970V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			24	3062	-			971						Missense_Mutation	SNP	ENST00000553532.1	37	c.2908C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551234	0.13374	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.67345	2.66;2.66;-0.26	5.02	1.75	0.24633	Timeless C-terminal (1);	0.814577	0.11114	N	0.598232	T	0.53562	0.1804	L	0.36672	1.1	0.09310	N	1	B	0.24317	0.101	B	0.25614	0.062	T	0.46555	-0.9183	10	0.45353	T	0.12	.	6.7588	0.23528	0.0:0.1589:0.4369:0.4042	.	971	Q9UNS1	TIM_HUMAN	V	970;971;468	ENSP00000229201:L970V;ENSP00000450607:L971V;ENSP00000450848:L468V	ENSP00000229201:L971V	L	-	1	2	TIMELESS	55101143	0.001000	0.12720	0.360000	0.25837	0.696000	0.40369	0.028000	0.13644	0.682000	0.31407	0.561000	0.74099	CTG		0.473	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		11	108	0	0	0	1	0	11	108				
ARNT	405	broad.mit.edu	37	1	150808764	150808764	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:150808764G>A	ENST00000358595.5	-	7	892	c.692C>T	c.(691-693)gCc>gTc	p.A231V	ARNT_ENST00000505755.1_Missense_Mutation_p.A216V|ARNT_ENST00000354396.2_Missense_Mutation_p.A231V|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000515192.1_Missense_Mutation_p.A222V	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	231	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTGTCAGGGCATTTTCTGA	0.418			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(691-693)gCc>gTc		aryl hydrocarbon receptor nuclear translocator							94.0	75.0	81.0					1																	150808764		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150808764G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.692C>T	1.37:g.150808764G>A	ENSP00000351407:p.Ala231Val					ARNT_ENST00000515192.1_Missense_Mutation_p.A222V|ARNT_ENST00000505755.1_Missense_Mutation_p.A216V|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.A231V	p.A231V	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	892	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		231			PAS 1.		B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.692C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799372	0.90538	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.05139	3.59;3.59;3.59;3.49	5.52	5.52	0.82312	PAS (1);PAS fold (1);	0.098801	0.64402	D	0.000001	T	0.06690	0.0171	N	0.17082	0.46	0.50039	D	0.999847	P;D;D;P;B;P;D	0.57571	0.927;0.98;0.965;0.69;0.09;0.823;0.965	P;P;P;B;B;P;P	0.57204	0.761;0.761;0.815;0.433;0.096;0.535;0.815	T	0.49542	-0.8929	10	0.41790	T	0.15	.	19.8024	0.96513	0.0:0.0:1.0:0.0	.	215;231;216;231;222;216;231	B4E3L5;A6NGV6;A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;.;.;ARNT_HUMAN	V	231;231;231;222;215;216	ENSP00000351407:A231V;ENSP00000346372:A231V;ENSP00000423851:A222V;ENSP00000427571:A216V	ENSP00000346372:A231V	A	-	2	0	ARNT	149075388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.822000	0.62686	2.752000	0.94435	0.655000	0.94253	GCC		0.418	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			4	97	0	0	0	1	0	4	97				
OR8U1	219417	broad.mit.edu	37	11	56143799	56143799	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr11:56143799A>T	ENST00000302270.1	+	1	700	c.700A>T	c.(700-702)Aga>Tga	p.R234*		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AGCTGAGGGAAGACAGAAGGC	0.473																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(700-702)Aga>Tga		olfactory receptor, family 8, subfamily U, member 1							132.0	132.0	132.0					11																	56143799		2045	4232	6277	SO:0001587	stop_gained	219417							g.chr11:56143799A>T	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.700A>T	11.37:g.56143799A>T	ENSP00000304188:p.Arg234*						p.R234*	NM_001005204.1	NP_001005204.1					1	700	+	Esophageal squamous(21;0.00448)								Nonsense_Mutation	SNP	ENST00000302270.1	37	c.700A>T	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.338884	0.24253	.	.	ENSG00000172199	ENST00000302270	.	.	.	5.78	4.61	0.57282	.	0.000000	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8905	0.58069	0.7489:0.2511:0.0:0.0	.	.	.	.	X	234	.	ENSP00000304188:R234X	R	+	1	2	OR8U1	55900375	0.001000	0.12720	0.143000	0.22291	0.009000	0.06853	0.224000	0.17738	2.214000	0.71695	0.523000	0.50628	AGA		0.473	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		4	121	0	0	0	1	0	4	121				
QDPR	5860	broad.mit.edu	37	4	17513674	17513674	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:17513674C>A	ENST00000281243.5	-	1	183	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	QDPR_ENST00000428702.2_Missense_Mutation_p.A2S|QDPR_ENST00000513615.1_Missense_Mutation_p.A2S|QDPR_ENST00000508623.1_Missense_Mutation_p.A2S	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	2					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						GCCGCCGCCGCCATCCTGCTC	0.766																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(4-6)Gcg>Tcg		quinoid dihydropteridine reductase	NADH(DB00157)						6.0	9.0	8.0					4																	17513674		1753	3519	5272	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17513674C>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.4G>T	4.37:g.17513674C>A	ENSP00000281243:p.Ala2Ser					QDPR_ENST00000508623.1_Missense_Mutation_p.A2S|QDPR_ENST00000513615.1_Missense_Mutation_p.A2S|QDPR_ENST00000428702.2_Missense_Mutation_p.A2S	p.A2S	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			1	183	-			2					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.4G>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999643	0.54147	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	D;D;D;D	0.97888	-2.84;-3.61;-4.59;-3.1	3.76	3.76	0.43208	.	1.277620	0.06175	U	0.678331	D	0.96583	0.8885	N	0.12182	0.205	0.24499	N	0.99426	D;D	0.67145	0.996;0.99	D;P	0.75484	0.986;0.757	D	0.90626	0.4563	10	0.09843	T	0.71	-0.6845	12.49	0.55895	0.0:0.8304:0.1696:0.0	.	2;2	B3KW71;P09417	.;DHPR_HUMAN	S	2	ENSP00000422759:A2S;ENSP00000281243:A2S;ENSP00000390944:A2S;ENSP00000426377:A2S	ENSP00000281243:A2S	A	-	1	0	QDPR	17122772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.524000	0.35942	1.939000	0.56221	0.650000	0.86243	GCG		0.766	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		5	26	1	0	1.23904e-05	1	1.31861e-05	5	26				
MRPS18B	28973	broad.mit.edu	37	6	30595812	30595812	+	IGR	SNP	G	G	A	rs17852297		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr6:30595812G>A	ENST00000259873.4	+	0	1532				ATAT1_ENST00000376485.4_Missense_Mutation_p.D109N|ATAT1_ENST00000329992.8_Missense_Mutation_p.D109N|ATAT1_ENST00000319027.5_Missense_Mutation_p.D109N|ATAT1_ENST00000330083.5_Missense_Mutation_p.D97N|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000318999.7_Missense_Mutation_p.D109N|ATAT1_ENST00000376483.4_Missense_Mutation_p.D109N|ATAT1_ENST00000376478.2_Missense_Mutation_p.D109N	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B						translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CTCTTAGGATGATCGTGAGGC	0.468																																						ENST00000376483.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(325-327)Gat>Aat		alpha tubulin acetyltransferase 1							84.0	85.0	84.0					6																	30595812		1510	2708	4218	SO:0001628	intergenic_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30595812G>A	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268		6.37:g.30595812G>A						ATAT1_ENST00000329992.8_Missense_Mutation_p.D109N|ATAT1_ENST00000330083.5_Missense_Mutation_p.D97N|ATAT1_ENST00000318999.7_Missense_Mutation_p.D109N|ATAT1_ENST00000376478.2_Missense_Mutation_p.D109N|ATAT1_ENST00000319027.5_Missense_Mutation_p.D109N|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376485.4_Missense_Mutation_p.D109N	p.D109N			Q5SQI0	ATAT_HUMAN			5	335	+			109					A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	c.325G>A	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236068	0.58886	.	.	ENSG00000137343	ENST00000318999;ENST00000376485;ENST00000376478;ENST00000319027;ENST00000376483;ENST00000329992;ENST00000330083	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.18	5.18	0.71444	Acyl-CoA N-acyltransferase (1);	0.447709	0.26383	N	0.024685	T	0.09423	0.0232	N	0.01576	-0.805	0.28457	N	0.916073	B;B;B;P;B;P	0.41848	0.014;0.383;0.008;0.629;0.01;0.763	B;B;B;B;B;B	0.44315	0.044;0.178;0.026;0.446;0.008;0.085	T	0.06917	-1.0800	10	0.17832	T	0.49	-4.8485	12.3414	0.55095	0.0:0.2782:0.7218:0.0	.	97;109;97;109;109;109	B7Z4Q7;Q5SQI0-3;Q5SQI0-2;Q5SQI0;Q5SQI0-6;Q5SQI0-4	.;.;.;ATAT_HUMAN;.;.	N	109;109;109;109;109;109;97	ENSP00000324222:D109N;ENSP00000365668:D109N;ENSP00000365661:D109N;ENSP00000324459:D109N;ENSP00000365666:D109N;ENSP00000332374:D109N;ENSP00000327832:D97N	ENSP00000324222:D109N	D	+	1	0	ATAT1	30703791	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.181000	0.65054	2.719000	0.93026	0.558000	0.71614	GAT		0.468	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			7	83	0	0	0	1	0	7	83				
TOX	9760	broad.mit.edu	37	8	59728263	59728263	+	Silent	SNP	G	G	A	rs111551773		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:59728263G>A	ENST00000361421.1	-	7	1246	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	342						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				ATGTCTTCACGTCAACAGGTT	0.493																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1024-1026)gaC>gaT		thymocyte selection-associated high mobility group box		G		0,4406		0,0,2203	76.0	78.0	77.0		1026	-5.1	0.4	8	dbSNP_132	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TOX	NM_014729.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		342/527	59728263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59728263G>A		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1026C>T	8.37:g.59728263G>A							p.D342D	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			7	1246	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	342					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.1026C>T	CCDS34897.1																																																																																				0.493	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		10	62	0	0	0	1	0	10	62				
COBLL1	22837	broad.mit.edu	37	2	165551851	165551851	+	Missense_Mutation	SNP	T	T	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:165551851T>A	ENST00000392717.2	-	13	2283	c.2279A>T	c.(2278-2280)gAt>gTt	p.D760V	COBLL1_ENST00000409184.3_Missense_Mutation_p.D722V|COBLL1_ENST00000194871.6_Missense_Mutation_p.D789V|COBLL1_ENST00000342193.4_Missense_Mutation_p.D722V|COBLL1_ENST00000375458.2_Missense_Mutation_p.D684V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	760						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGGCAAAAGATCATCATTACC	0.393																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2050-2052)gAt>gTt		cordon-bleu WH2 repeat protein-like 1							159.0	155.0	156.0					2																	165551851		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551851T>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2279A>T	2.37:g.165551851T>A	ENSP00000376478:p.Asp760Val					COBLL1_ENST00000392717.2_Missense_Mutation_p.D760V|COBLL1_ENST00000342193.4_Missense_Mutation_p.D722V|COBLL1_ENST00000194871.6_Missense_Mutation_p.D789V|COBLL1_ENST00000409184.3_Missense_Mutation_p.D722V	p.D684V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2272	-			760					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2051A>T		.	.	.	.	.	.	.	.	.	.	T	4.539	0.100091	0.08731	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.67	-3.44	0.04796	.	0.837805	0.10890	N	0.622766	T	0.17789	0.0427	L	0.29908	0.895	0.09310	N	0.999999	B;B;B	0.22414	0.069;0.069;0.024	B;B;B	0.18561	0.02;0.022;0.018	T	0.22871	-1.0204	9	0.23891	T	0.37	-1.2531	1.7534	0.02976	0.1107:0.2662:0.2268:0.3963	.	760;789;722	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	V	684;722;722;760;789	.	ENSP00000194871:D789V	D	-	2	0	COBLL1	165260097	0.000000	0.05858	0.012000	0.15200	0.444000	0.32077	-0.330000	0.07925	-0.171000	0.10797	0.455000	0.32223	GAT		0.393	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		25	153	0	0	0	1	0	25	153				
LPHN3	23284	broad.mit.edu	37	4	62758432	62758432	+	Silent	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:62758432G>A	ENST00000514591.1	+	9	1664	c.1335G>A	c.(1333-1335)cgG>cgA	p.R445R	LPHN3_ENST00000514157.1_Silent_p.R445R|LPHN3_ENST00000506700.1_Silent_p.R445R|LPHN3_ENST00000511324.1_Silent_p.R513R|LPHN3_ENST00000504896.1_Silent_p.R445R|LPHN3_ENST00000508946.1_Silent_p.R445R|LPHN3_ENST00000506720.1_Silent_p.R513R|LPHN3_ENST00000545650.1_Silent_p.R445R|LPHN3_ENST00000507625.1_Silent_p.R513R|LPHN3_ENST00000506746.1_Silent_p.R513R|LPHN3_ENST00000512091.2_Silent_p.R445R|LPHN3_ENST00000514996.1_Silent_p.R445R|LPHN3_ENST00000509896.1_Silent_p.R513R|LPHN3_ENST00000507164.1_Silent_p.R513R|LPHN3_ENST00000508693.1_Silent_p.R513R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	445					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCACCCTTCGGACCACAACTT	0.483																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1333-1335)cgG>cgA		latrophilin 3							125.0	118.0	120.0					4																	62758432		1996	4169	6165	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758432G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1335G>A	4.37:g.62758432G>A						LPHN3_ENST00000507164.1_Silent_p.R513R|LPHN3_ENST00000514996.1_Silent_p.R445R|LPHN3_ENST00000507625.1_Silent_p.R513R|LPHN3_ENST00000506720.1_Silent_p.R513R|LPHN3_ENST00000514591.1_Silent_p.R445R|LPHN3_ENST00000508693.1_Silent_p.R513R|LPHN3_ENST00000545650.1_Silent_p.R445R|LPHN3_ENST00000511324.1_Silent_p.R513R|LPHN3_ENST00000506700.1_Silent_p.R445R|LPHN3_ENST00000504896.1_Silent_p.R445R|LPHN3_ENST00000506746.1_Silent_p.R513R|LPHN3_ENST00000508946.1_Silent_p.R445R|LPHN3_ENST00000509896.1_Silent_p.R513R|LPHN3_ENST00000514157.1_Silent_p.R445R	p.R445R			Q9HAR2	LPHN3_HUMAN			9	2082	+			445					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1335G>A	CCDS54768.1																																																																																				0.483	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	103	0	0	0	1	0	5	103				
NFU1	27247	broad.mit.edu	37	2	69627666	69627666	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:69627666T>C	ENST00000410022.2	-	7	755	c.550A>G	c.(550-552)Act>Gct	p.T184A	NFU1_ENST00000462320.1_Missense_Mutation_p.T43A|NFU1_ENST00000303698.3_Missense_Mutation_p.T160A|NFU1_ENST00000394305.1_Missense_Mutation_p.T43A|NFU1_ENST00000471185.1_Intron	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	184	NifU.				iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCCTGCACAGTTGGCCTGTGA	0.358																																						ENST00000410022.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						c.(550-552)Act>Gct		NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)							144.0	134.0	137.0					2																	69627666		2203	4300	6503	SO:0001583	missense	27247				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding	g.chr2:69627666T>C	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.550A>G	2.37:g.69627666T>C	ENSP00000387219:p.Thr184Ala					NFU1_ENST00000471185.1_Intron|NFU1_ENST00000303698.3_Missense_Mutation_p.T160A|NFU1_ENST00000394305.1_Missense_Mutation_p.T43A|NFU1_ENST00000462320.1_Missense_Mutation_p.T43A	p.T184A	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN			7	755	-			184			NifU.		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	c.550A>G	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	T	8.367	0.834425	0.16820	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320;ENST00000450796;ENST00000484177	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.17	5.17	0.71159	NIF system FeS cluster assembly, NifU, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	N	0.00422	-1.515	0.80722	D	1	P;B	0.48230	0.907;0.309	P;P	0.51974	0.686;0.456	T	0.62129	-0.6919	10	0.02654	T	1	-9.3653	14.3487	0.66685	0.0:0.0:0.0:1.0	.	160;184	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	A	184;160;43;43;43;43	ENSP00000387219:T184A;ENSP00000306965:T160A;ENSP00000377842:T43A;ENSP00000418598:T43A;ENSP00000415102:T43A;ENSP00000417693:T43A	ENSP00000306965:T160A	T	-	1	0	NFU1	69481170	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.322000	0.79097	2.165000	0.68154	0.450000	0.29827	ACT		0.358	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		12	191	0	0	0	1	0	12	191				
ARAP2	116984	broad.mit.edu	37	4	36179604	36179604	+	Missense_Mutation	SNP	T	T	C	rs199846587		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:36179604T>C	ENST00000303965.4	-	9	2191	c.1702A>G	c.(1702-1704)Ata>Gta	p.I568V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	568	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTAATAGTATGCTGATCCAG	0.378																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(1702-1704)Ata>Gta		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							102.0	100.0	101.0					4																	36179604		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36179604T>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1702A>G	4.37:g.36179604T>C	ENSP00000302895:p.Ile568Val						p.I568V	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			9	2191	-			568			PH 1.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.1702A>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	2.173	-0.389521	0.04932	.	.	ENSG00000047365	ENST00000303965	T	0.74947	-0.89	5.33	-0.245	0.13027	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.454073	0.22512	N	0.059087	T	0.36193	0.0958	N	0.01473	-0.845	0.25372	N	0.988693	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.40194	-0.9576	10	0.02654	T	1	.	6.6819	0.23125	0.0:0.1353:0.1967:0.6679	.	498;568	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	V	568	ENSP00000302895:I568V	ENSP00000302895:I568V	I	-	1	0	ARAP2	35855999	1.000000	0.71417	0.766000	0.31476	0.965000	0.64279	1.164000	0.31810	-0.240000	0.09696	0.397000	0.26171	ATA		0.378	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		11	96	0	0	0	1	0	11	96				
GIPC3	126326	broad.mit.edu	37	19	3586578	3586578	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:3586578C>T	ENST00000322315.5	+	2	356	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	104										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCATCTTTGCCCACGTGCGA	0.572											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(310-312)gCc>gTc		GIPC PDZ domain containing family, member 3							109.0	104.0	105.0					19																	3586578		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3586578C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.311C>T	19.37:g.3586578C>T	ENSP00000319254:p.Ala104Val		OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.A104V	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	356	+			104					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.311C>T	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295504	0.60086	.	.	ENSG00000179855	ENST00000322315	T	0.38887	1.11	3.49	3.49	0.39957	PDZ/DHR/GLGF (1);	0.056740	0.64402	D	0.000002	T	0.33235	0.0856	L	0.40543	1.245	0.80722	D	1	P	0.39809	0.689	B	0.36378	0.223	T	0.26608	-1.0098	10	0.44086	T	0.13	-28.6584	13.7627	0.62977	0.0:1.0:0.0:0.0	.	104	Q8TF64	GIPC3_HUMAN	V	104	ENSP00000319254:A104V	ENSP00000319254:A104V	A	+	2	0	GIPC3	3537578	1.000000	0.71417	0.928000	0.36995	0.745000	0.42441	7.058000	0.76676	1.791000	0.52520	0.561000	0.74099	GCC		0.572	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		20	195	0	0	0	1	0	20	195				
ITGB4	3691	broad.mit.edu	37	17	73752808	73752808	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:73752808C>T	ENST00000200181.3	+	37	5108	c.4921C>T	c.(4921-4923)Ccc>Tcc	p.P1641S	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.P1571S|ITGB4_ENST00000449880.2_Missense_Mutation_p.P1624S|ITGB4_ENST00000450894.3_Missense_Mutation_p.P1571S|ITGB4_ENST00000339591.3_Missense_Mutation_p.P1624S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1641					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGAGCACTCCCAGTGCCCC	0.667																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4921-4923)Ccc>Tcc		integrin, beta 4							54.0	55.0	55.0					17																	73752808		2203	4299	6502	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73752808C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4921C>T	17.37:g.73752808C>T	ENSP00000200181:p.Pro1641Ser					ITGB4_ENST00000449880.2_Missense_Mutation_p.P1624S|ITGB4_ENST00000339591.3_Missense_Mutation_p.P1624S|ITGB4_ENST00000450894.3_Missense_Mutation_p.P1571S|ITGB4_ENST00000579662.1_Missense_Mutation_p.P1571S|GALK1_ENST00000225614.2_Intron	p.P1641S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		37	5108	+	all_cancers(13;1.5e-07)		1641			Fibronectin type-III 4.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.4921C>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554641	0.45487	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.61742	0.08;0.08;0.08	5.04	5.04	0.67666	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87598	0.2495	10	0.87932	D	0	.	18.7536	0.91823	0.0:1.0:0.0:0.0	.	1624;1571;1641	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	S	1641;1624;1624	ENSP00000200181:P1641S;ENSP00000344079:P1624S;ENSP00000400217:P1624S	ENSP00000200181:P1641S	P	+	1	0	ITGB4	71264403	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.776000	0.85560	2.518000	0.84900	0.462000	0.41574	CCC		0.667	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			4	90	0	0	0	1	0	4	90				
ADCY9	115	broad.mit.edu	37	16	4163838	4163838	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:4163838C>T	ENST00000294016.3	-	2	2144	c.1606G>A	c.(1606-1608)Gca>Aca	p.A536T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	536					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						AAGTATTTTGCGGTGGCCTCA	0.507																																						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.(1606-1608)Gca>Aca		adenylate cyclase 9							111.0	108.0	109.0					16																	4163838		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.chr16:4163838C>T	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.1606G>A	16.37:g.4163838C>T	ENSP00000294016:p.Ala536Thr						p.A536T	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	2144	-			536					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1606G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792530	0.70452	.	.	ENSG00000162104	ENST00000294016	D	0.85339	-1.97	5.39	3.41	0.39046	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.056390	0.64402	D	0.000001	D	0.92331	0.7567	M	0.84511	2.7	0.53005	D	0.999962	D	0.89917	1.0	D	0.85130	0.997	D	0.91849	0.5490	10	0.44086	T	0.13	.	14.6143	0.68537	0.2663:0.7337:0.0:0.0	.	536	O60503	ADCY9_HUMAN	T	536	ENSP00000294016:A536T	ENSP00000294016:A536T	A	-	1	0	ADCY9	4103839	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	6.003000	0.70701	0.646000	0.30693	0.555000	0.69702	GCA		0.507	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			5	189	0	0	0	1	0	5	189				
EIF4A2	1974	broad.mit.edu	37	3	186505353	186505353	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:186505353C>G	ENST00000323963.5	+	9	1043	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.L328V|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.L232V|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	327	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAGTCGTGTTCTGATCACTAC	0.393			T	BCL6	NHL																																	ENST00000323963.5				Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(979-981)Ctg>Gtg		eukaryotic translation initiation factor 4A2							151.0	143.0	146.0					3																	186505353		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186505353C>G	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.979C>G	3.37:g.186505353C>G	ENSP00000326381:p.Leu327Val					EIF4A2_ENST00000356531.5_Missense_Mutation_p.L232V|EIF4A2_ENST00000440191.2_Missense_Mutation_p.L328V	p.L327V			Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	9	1043	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		327			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.979C>G	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343173	0.61073	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.15017	2.46;2.46;2.46	5.12	2.37	0.29283	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.76494	0.999;0.99;0.997;0.997	D;P;D;D	0.79784	0.99;0.891;0.987;0.993	T	0.10683	-1.0619	10	0.87932	D	0	.	7.3054	0.26445	0.0:0.6555:0.0:0.3445	.	183;232;328;327	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	V	327;328;232	ENSP00000326381:L327V;ENSP00000398370:L328V;ENSP00000348925:L232V	ENSP00000326381:L327V	L	+	1	2	EIF4A2	187988047	0.905000	0.30787	1.000000	0.80357	0.995000	0.86356	0.093000	0.15086	0.428000	0.26173	0.563000	0.77884	CTG		0.393	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		24	212	0	0	0	1	0	24	212				
LPIN2	9663	broad.mit.edu	37	18	2924428	2924428	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr18:2924428G>C	ENST00000261596.4	-	15	2293	c.2055C>G	c.(2053-2055)atC>atG	p.I685M	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	685	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAGAAATGATGATCTTGTCAT	0.493																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2053-2055)atC>atG		lipin 2							166.0	139.0	148.0					18																	2924428		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2924428G>C	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2055C>G	18.37:g.2924428G>C	ENSP00000261596:p.Ile685Met						p.I685M	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	15	2293	-			685			C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2055C>G	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882703	0.72410	.	.	ENSG00000101577	ENST00000261596	T	0.80566	-1.39	5.97	5.09	0.68999	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.367409	0.33980	N	0.004363	D	0.87095	0.6092	M	0.87547	2.89	0.47476	D	0.999436	B	0.33637	0.42	P	0.47941	0.562	D	0.87540	0.2458	10	0.87932	D	0	-8.6547	8.9029	0.35505	0.0686:0.0:0.6771:0.2543	.	685	Q92539	LPIN2_HUMAN	M	685	ENSP00000261596:I685M	ENSP00000261596:I685M	I	-	3	3	LPIN2	2914428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.480000	0.45206	1.505000	0.48720	0.655000	0.94253	ATC		0.493	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		15	125	0	0	0	1	0	15	125				
PTCH2	8643	broad.mit.edu	37	1	45294893	45294893	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:45294893G>A	ENST00000372192.3	-	10	1437	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A436V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	436	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.A436V(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGAGGCCACCGCCAGGGCCAC	0.672									Basal Cell Nevus syndrome																													ENST00000447098.2																			1	Substitution - Missense(1)	p.A436V(1)	endometrium(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	GRCh37	CM083056	PTCH2	M		c.(1306-1308)gCg>gTg		patched 2							27.0	29.0	28.0					1																	45294893		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45294893G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1307C>T	1.37:g.45294893G>A	ENSP00000361266:p.Ala436Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A436V	p.A436V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			10	1318	-	Acute lymphoblastic leukemia(166;0.155)		436			SSD.		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1307C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071986	0.93950	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.96554	-4.05;-4.05	4.98	4.98	0.66077	Sterol-sensing domain (1);	0.236313	0.33854	N	0.004481	D	0.97670	0.9236	M	0.80847	2.515	0.54753	D	0.99998	P;P	0.52170	0.933;0.951	P;P	0.57283	0.551;0.817	D	0.98574	1.0647	10	0.87932	D	0	-4.4999	17.8686	0.88804	0.0:0.0:1.0:0.0	.	436;436	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	436	ENSP00000389703:A436V;ENSP00000361266:A436V	ENSP00000361266:A436V	A	-	2	0	PTCH2	45067480	1.000000	0.71417	0.976000	0.42696	0.742000	0.42306	7.550000	0.82173	2.315000	0.78130	0.561000	0.74099	GCG		0.672	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		4	52	0	0	0	1	0	4	52				
TACC3	10460	broad.mit.edu	37	4	1733024	1733024	+	Silent	SNP	T	T	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:1733024T>A	ENST00000313288.4	+	6	1693	c.1587T>A	c.(1585-1587)gcT>gcA	p.A529A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	529					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GAGACCCCGCTGAGGGTACGT	0.632																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1585-1587)gcT>gcA		transforming, acidic coiled-coil containing protein 3							56.0	59.0	58.0					4																	1733024		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1733024T>A	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1587T>A	4.37:g.1733024T>A							p.A529A	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		6	1693	+		Breast(71;0.212)|all_epithelial(65;0.241)	529					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.1587T>A	CCDS3352.1																																																																																				0.632	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			7	90	0	0	0	1	0	7	90				
MAG	4099	broad.mit.edu	37	19	35804258	35804258	+	Missense_Mutation	SNP	C	C	A	rs200067189		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:35804258C>A	ENST00000392213.3	+	11	1941	c.1782C>A	c.(1780-1782)gaC>gaA	p.D594E	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.D569E	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	594					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGCTGGACCTGAGCTATT	0.612																																						ENST00000392213.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1780-1782)gaC>gaA		myelin associated glycoprotein							86.0	79.0	82.0					19																	35804258		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804258C>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1782C>A	19.37:g.35804258C>A	ENSP00000376048:p.Asp594Glu					MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.D569E	p.D594E	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1941	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	594					B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1782C>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	C	5.929	0.355524	0.11239	.	.	ENSG00000105695	ENST00000262624;ENST00000392213;ENST00000537831	T;T	0.66995	-0.24;-0.14	4.7	2.5	0.30297	.	0.056328	0.64402	D	0.000001	T	0.43255	0.1239	N	0.19112	0.55	0.29405	N	0.861661	B;B	0.22080	0.064;0.033	B;B	0.14023	0.01;0.01	T	0.30563	-0.9974	10	0.06494	T	0.89	.	9.7578	0.40513	0.3758:0.6242:0.0:0.0	.	631;594	Q59GD9;P20916	.;MAG_HUMAN	E	631;594;569	ENSP00000376048:D594E;ENSP00000440695:D569E	ENSP00000262624:D631E	D	+	3	2	MAG	40496098	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	1.648000	0.37271	0.549000	0.28973	-0.314000	0.08810	GAC		0.612	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		11	70	1	0	0.000673444	1	0.000703779	11	70				
KALRN	8997	broad.mit.edu	37	3	124053119	124053119	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr3:124053119A>G	ENST00000240874.3	+	9	1575	c.1418A>G	c.(1417-1419)cAg>cGg	p.Q473R	KALRN_ENST00000460856.1_Missense_Mutation_p.Q473R|KALRN_ENST00000360013.3_Missense_Mutation_p.Q473R	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	473					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGGTCAGCCAGGATGGCAAA	0.562																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1417-1419)cAg>cGg		kalirin, RhoGEF kinase							91.0	94.0	93.0					3																	124053119		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053119A>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1418A>G	3.37:g.124053119A>G	ENSP00000240874:p.Gln473Arg					KALRN_ENST00000460856.1_Missense_Mutation_p.Q473R|KALRN_ENST00000240874.3_Missense_Mutation_p.Q473R	p.Q473R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			9	1545	+			473					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1418A>G	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.19|13.19	2.164098|2.164098	0.38217|0.38217	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.42131|.	0.98;0.98;0.98|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68238|0.68238	0.2979|0.2979	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;P;B|.	0.47409|.	0.25;0.895;0.365|.	B;P;B|.	0.44518|.	0.068;0.452;0.143|.	T|T	0.66929|0.66929	-0.5799|-0.5799	10|5	0.30854|.	T|.	0.27|.	.|.	14.9098|14.9098	0.70746|0.70746	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	473;473;473|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	R|G	473|451	ENSP00000418611:Q473R;ENSP00000240874:Q473R;ENSP00000353109:Q473R|.	ENSP00000240874:Q473R|.	Q|R	+|+	2|1	0|2	KALRN|KALRN	125535809|125535809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.066000|7.066000	0.76734|0.76734	2.162000|2.162000	0.67917|0.67917	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.562	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		21	150	0	0	0	1	0	21	150				
ZKSCAN1	7586	broad.mit.edu	37	7	99627983	99627983	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr7:99627983A>T	ENST00000324306.6	+	5	1018	c.784A>T	c.(784-786)Agc>Tgc	p.S262C	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.S49C|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S226C	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	262	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAATTATGGGAGCGCATTTCC	0.498																																						ENST00000324306.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(784-786)Agc>Tgc		zinc finger with KRAB and SCAN domains 1							109.0	92.0	98.0					7																	99627983		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99627983A>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.784A>T	7.37:g.99627983A>T	ENSP00000323148:p.Ser262Cys					ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.S49C|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.S226C	p.S262C	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1018	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		262			KRAB.		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.784A>T	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.316289	0.40996	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.01838	4.61;4.61;4.61	5.32	5.32	0.75619	Krueppel-associated box (4);	0.547984	0.17780	N	0.162291	T	0.03477	0.0100	L	0.43152	1.355	0.22811	N	0.998704	B	0.26041	0.14	B	0.34590	0.186	T	0.33317	-0.9873	10	0.72032	D	0.01	.	7.7851	0.29087	0.9098:0.0:0.0902:0.0	.	262	P17029	ZKSC1_HUMAN	C	262;226;49	ENSP00000323148:S262C;ENSP00000409172:S226C;ENSP00000443508:S49C	ENSP00000323148:S262C	S	+	1	0	ZKSCAN1	99465919	0.980000	0.34600	0.915000	0.36163	0.469000	0.32828	2.712000	0.47186	2.233000	0.73108	0.533000	0.62120	AGC		0.498	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		5	41	0	0	0	1	0	5	41				
ZNF709	163051	broad.mit.edu	37	19	12575076	12575076	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:12575076G>C	ENST00000397732.3	-	4	1831	c.1660C>G	c.(1660-1662)Cac>Gac	p.H554D	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.H554D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCTCCAGTGTGAGTCCTTTCA	0.428																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1660-1662)Cac>Gac		zinc finger protein 709							144.0	151.0	148.0					19																	12575076		2203	4300	6503	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575076G>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1660C>G	19.37:g.12575076G>C	ENSP00000380840:p.His554Asp					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.H554D	p.H554D	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1831	-			554					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1660C>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317599	0.81469	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.67698	-0.28;-0.28	2.91	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86723	0.6001	H	0.97829	4.085	0.25552	N	0.987079	D	0.89917	1.0	D	0.97110	1.0	T	0.75525	-0.3287	9	0.87932	D	0	.	9.2595	0.37603	0.1166:0.0:0.8834:0.0	.	554	Q8N972	ZN709_HUMAN	D	554	ENSP00000380840:H554D;ENSP00000404127:H554D	ENSP00000404127:H554D	H	-	1	0	ZNF709;CTD-2192J16.17	12436076	1.000000	0.71417	0.005000	0.12908	0.996000	0.88848	8.044000	0.89434	0.817000	0.34445	0.585000	0.79938	CAC		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		16	267	0	0	0	1	0	16	267				
ANKRD32	84250	broad.mit.edu	37	5	94014601	94014601	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:94014601G>C	ENST00000265140.5	+	15	2335	c.1916G>C	c.(1915-1917)aGa>aCa	p.R639T		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	639						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAGATGGGTAGAAATGTGATG	0.373																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(1915-1917)aGa>aCa		ankyrin repeat domain 32							262.0	236.0	245.0					5																	94014601		2203	4300	6503	SO:0001583	missense	84250							g.chr5:94014601G>C	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1916G>C	5.37:g.94014601G>C	ENSP00000265140:p.Arg639Thr						p.R639T	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	15	2335	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	639					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.1916G>C	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632860	0.47049	.	.	ENSG00000133302	ENST00000265140	T	0.52754	0.65	5.71	3.87	0.44632	.	0.151217	0.47455	D	0.000227	T	0.40272	0.1110	L	0.47716	1.5	0.33286	D	0.562935	B	0.31383	0.321	B	0.33454	0.164	T	0.53215	-0.8470	10	0.66056	D	0.02	.	8.2604	0.31781	0.3101:0.0:0.6899:0.0	.	639	Q9BQI6	ANR32_HUMAN	T	639	ENSP00000265140:R639T	ENSP00000265140:R639T	R	+	2	0	ANKRD32	94040357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.000000	0.40816	0.697000	0.31718	0.557000	0.71058	AGA		0.373	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		6	109	0	0	0	1	0	6	109				
CHD1L	9557	broad.mit.edu	37	1	146736116	146736116	+	Silent	SNP	T	T	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:146736116T>A	ENST00000369258.4	+	7	632	c.612T>A	c.(610-612)acT>acA	p.T204T	CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Silent_p.T204T	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	204	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGACCGGAACTCCCATCCAGA	0.428																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(610-612)acT>acA		chromodomain helicase DNA binding protein 1-like							74.0	67.0	69.0					1																	146736116		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146736116T>A	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.612T>A	1.37:g.146736116T>A						CHD1L_ENST00000431239.1_Silent_p.T204T|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000467213.1_3'UTR	p.T204T	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			7	632	+	all_hematologic(923;0.0487)		204			Helicase ATP-binding.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.612T>A	CCDS927.1																																																																																				0.428	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		5	57	0	0	0	1	0	5	57				
GLI2	2736	broad.mit.edu	37	2	121746944	121746944	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:121746944G>A	ENST00000452319.1	+	14	3514	c.3454G>A	c.(3454-3456)Ggc>Agc	p.G1152S	GLI2_ENST00000361492.4_Missense_Mutation_p.G1152S|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2									p.G1152S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGTGAGCTCCGGCACCGTAGA	0.632																																						ENST00000452319.1																			1	Substitution - Missense(1)	p.G1152S(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3454-3456)Ggc>Agc		GLI family zinc finger 2							27.0	25.0	26.0					2																	121746944		2176	4252	6428	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746944G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3454G>A	2.37:g.121746944G>A	ENSP00000390436:p.Gly1152Ser					GLI2_ENST00000361492.4_Missense_Mutation_p.G1152S|GLI2_ENST00000314490.11_Intron	p.G1152S			P10070	GLI2_HUMAN			14	3514	+	Renal(3;0.0496)	Prostate(154;0.0623)	1152						Missense_Mutation	SNP	ENST00000452319.1	37	c.3454G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976621	0.92982	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.34859	1.34;1.34	4.87	4.87	0.63330	.	0.099552	0.64402	D	0.000001	T	0.61602	0.2360	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62709	-0.6797	9	.	.	.	.	18.2578	0.90025	0.0:0.0:1.0:0.0	.	1152;807	P10070;P10070-2	GLI2_HUMAN;.	S	1152	ENSP00000390436:G1152S;ENSP00000354586:G1152S	.	G	+	1	0	GLI2	121463414	1.000000	0.71417	0.982000	0.44146	0.798000	0.45092	9.524000	0.98036	2.542000	0.85734	0.449000	0.29647	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	41	0	0	0	1	0	7	41				
C3P1	388503	broad.mit.edu	37	19	10158008	10158008	+	RNA	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:10158008G>A	ENST00000495140.1	+	0	1216							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)	p.S57S(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TCTGTGTCTCGGACCCCTTTG	0.542																																						ENST00000495140.1																			1	Substitution - coding silent(1)	p.S57S(1)	endometrium(1)	endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															165.0	160.0	162.0					19																	10158008		1997	4161	6158			388503							g.chr19:10158008G>A	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10158008G>A														0	1216	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.542	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		16	215	0	0	0	1	0	16	215				
ZSCAN5B	342933	broad.mit.edu	37	19	56701757	56701757	+	Missense_Mutation	SNP	T	T	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:56701757T>G	ENST00000586855.2	-	5	1240	c.927A>C	c.(925-927)gaA>gaC	p.E309D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E309D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	309					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTGAGGCTCTTCTTGGGAAA	0.547																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(925-927)gaA>gaC		zinc finger and SCAN domain containing 5B							111.0	117.0	115.0					19																	56701757		2203	4297	6500	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701757T>G		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.927A>C	19.37:g.56701757T>G	ENSP00000466072:p.Glu309Asp					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E309D	p.E309D			A6NJL1	ZSA5B_HUMAN			5	1240	-			309						Missense_Mutation	SNP	ENST00000586855.2	37	c.927A>C	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	T	4.162	0.028636	0.08054	.	.	ENSG00000197213	ENST00000358992	T	0.06528	3.29	2.29	-4.22	0.03800	.	.	.	.	.	T	0.03783	0.0107	L	0.46614	1.455	0.09310	N	1	P	0.41313	0.745	B	0.37480	0.251	T	0.36261	-0.9755	9	0.12766	T	0.61	.	0.3972	0.00420	0.1938:0.2964:0.2524:0.2574	.	309	A6NJL1	ZSA5B_HUMAN	D	309	ENSP00000351883:E309D	ENSP00000351883:E309D	E	-	3	2	ZSCAN5B	61393569	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.808000	0.00361	-0.770000	0.04614	0.254000	0.18369	GAA		0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		13	189	0	0	0	1	0	13	189				
ZFHX3	463	broad.mit.edu	37	16	72822728	72822728	+	Silent	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:72822728C>T	ENST00000268489.5	-	10	10119	c.9447G>A	c.(9445-9447)ccG>ccA	p.P3149P	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.P2235P|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3149					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.P3149P(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		Ovarian(137;0.13)				CCATCAAGTTCGGCTTAGGAG	0.547																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.P3149P(1)	upper_aerodigestive_tract(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.(9445-9447)ccG>ccA		zinc finger homeobox 3							93.0	95.0	94.0					16																	72822728		2198	4299	6497	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.chr16:72822728C>T	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.9447G>A	16.37:g.72822728C>T						ZFHX3_ENST00000397992.5_Silent_p.P2235P	p.P3149P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10119	-		Ovarian(137;0.13)	3149					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.9447G>A	CCDS10908.1																																																																																				0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	173	0	0	0	1	0	10	173				
WASF2	10163	broad.mit.edu	37	1	27742575	27742575	+	Silent	SNP	G	G	C	rs200795125		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:27742575G>C	ENST00000430629.2	-	5	656	c.441C>G	c.(439-441)ctC>ctG	p.L147L	WASF2_ENST00000536657.1_Silent_p.L147L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	147					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGTAGAATTTGAGTGCCTCTT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		20295	0.001		0.0	False		,,,				2504	0.0					ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(439-441)ctC>ctG		WAS protein family, member 2							174.0	157.0	162.0					1																	27742575		2203	4300	6503	SO:0001819	synonymous_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27742575G>C	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.441C>G	1.37:g.27742575G>C						WASF2_ENST00000536657.1_Silent_p.L147L	p.L147L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	5	656	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	147					B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	c.441C>G	CCDS304.1																																																																																				0.433	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		25	120	0	0	0	1	0	25	120				
WFS1	7466	broad.mit.edu	37	4	6296871	6296871	+	Silent	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:6296871C>T	ENST00000226760.1	+	7	986	c.816C>T	c.(814-816)gaC>gaT	p.D272D	WFS1_ENST00000503569.1_Silent_p.D272D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	272					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AAGATGATGACGAGCTGGCGG	0.607																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(814-816)gaC>gaT		Wolfram syndrome 1 (wolframin)							76.0	69.0	71.0					4																	6296871		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6296871C>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.816C>T	4.37:g.6296871C>T						WFS1_ENST00000503569.1_Silent_p.D272D	p.D272D	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	7	986	+			272					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.816C>T	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	C	7.532	0.658909	0.14645	.	.	ENSG00000109501	ENST00000506362	.	.	.	4.35	-0.963	0.10330	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40251	-0.9573	4	.	.	.	-35.9257	5.7045	0.17901	0.1295:0.4607:0.0:0.4097	.	.	.	.	M	150	.	.	T	+	2	0	WFS1	6347772	0.014000	0.17966	0.799000	0.32177	0.663000	0.39108	-1.044000	0.03532	0.002000	0.14630	0.462000	0.41574	ACG		0.607	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			7	109	0	0	0	1	0	7	109				
ZNF626	199777	broad.mit.edu	37	19	20807517	20807517	+	Missense_Mutation	SNP	A	A	C	rs369061479		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr19:20807517A>C	ENST00000601440.1	-	4	1312	c.1166T>G	c.(1165-1167)aTa>aGa	p.I389R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTATCTTATGCGT	0.383																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1165-1167)aTa>aGa		zinc finger protein 626							58.0	61.0	60.0					19																	20807517		2137	4276	6413	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807517A>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1166T>G	19.37:g.20807517A>C	ENSP00000469958:p.Ile389Arg					CTC-513N18.7_ENST00000595094.1_lincRNA	p.I389R	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1312	-			389					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1166T>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.001	-3.420587	0.00013	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	N	0.00072	-2.265	0.42855	D	0.994096	B	0.06786	0.001	B	0.13407	0.009	T	0.37888	-0.9686	8	0.02654	T	1	.	3.6201	0.08092	0.5901:0.4099:0.0:0.0	.	389	Q68DY1	ZN626_HUMAN	R	389;313;389	.	ENSP00000445201:I389R	I	-	2	0	ZNF626	20599357	0.000000	0.05858	0.055000	0.19348	0.055000	0.15305	-2.406000	0.01044	0.243000	0.21327	0.240000	0.17902	ATA		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		5	134	0	0	0	1	0	5	134				
TCHH	7062	broad.mit.edu	37	1	152083709	152083709	+	Missense_Mutation	SNP	C	C	T	rs199860960	byFrequency	TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:152083709C>T	ENST00000368804.1	-	2	1983	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	662	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCCTCGCGCTTCAGC	0.667													c|||	3	0.000599042	0.0	0.0	5008	,	,		17550	0.0		0.003	False		,,,				2504	0.0					ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1984-1986)Gag>Aag		trichohyalin			LYS/GLU	0,3984		0,0,1992	50.0	59.0	56.0		1984	2.0	0.0	1		56	1,8325		0,1,4162	no	missense	TCHH	NM_007113.2	56	0,1,6154	TT,TC,CC		0.012,0.0,0.0081	benign	662/1944	152083709	1,12309	1992	4163	6155	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083709C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1984G>A	1.37:g.152083709C>T	ENSP00000357794:p.Glu662Lys						p.E662K	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1983	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		662			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1984G>A	CCDS41396.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	c	10.28	1.307708	0.23821	0.0	1.2E-4	ENSG00000159450	ENST00000368804	T	0.05447	3.44	3.88	1.96	0.26148	.	.	.	.	.	T	0.00845	0.0028	N	0.24115	0.695	0.09310	N	1	B	0.34399	0.452	B	0.20184	0.028	T	0.46400	-0.9194	9	0.09843	T	0.71	.	5.8464	0.18669	0.0:0.6433:0.0:0.3567	.	662	Q07283	TRHY_HUMAN	K	662	ENSP00000357794:E662K	ENSP00000357794:E662K	E	-	1	0	TCHH	150350333	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	-1.729000	0.01856	0.162000	0.19483	0.451000	0.29950	GAG		0.667	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	157	0	0	0	1	0	7	157				
TSNARE1	203062	broad.mit.edu	37	8	143381872	143381872	+	Missense_Mutation	SNP	C	C	T	rs368224487		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr8:143381872C>T	ENST00000307180.3	-	10	1382	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	TSNARE1_ENST00000519651.1_Missense_Mutation_p.R203Q|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R421Q|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R422Q	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	422	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCTCCTCCCGCAGCCGGAT	0.632																																						ENST00000519651.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(607-609)cGg>cAg		t-SNARE domain containing 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	48.0	49.0		1265	2.0	0.1	8		49	0,8600		0,0,4300	no	missense	TSNARE1	NM_145003.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	422/514	143381872	1,13005	2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143381872C>T			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1265G>A	8.37:g.143381872C>T	ENSP00000303437:p.Arg422Gln					TSNARE1_ENST00000520166.1_Missense_Mutation_p.R422Q|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R422Q|TSNARE1_ENST00000524325.1_Missense_Mutation_p.R421Q	p.R203Q			Q96NA8	TSNA1_HUMAN			8	711	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		422					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.608G>A	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377317	0.42105	2.27E-4	0.0	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.55	2.0	0.26442	t-SNARE (1);Target SNARE coiled-coil domain (3);	0.000000	0.32041	U	0.006661	T	0.70727	0.3257	M	0.79343	2.45	0.09310	N	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;P;D;D	0.85130	0.997;0.889;0.997;0.997	T	0.60255	-0.7299	10	0.59425	D	0.04	.	6.534	0.22341	0.0:0.7012:0.0:0.2988	.	421;203;422;423	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	Q	421;422;422;203	ENSP00000428763:R421Q;ENSP00000303437:R422Q;ENSP00000427770:R422Q;ENSP00000429679:R203Q	ENSP00000303437:R422Q	R	-	2	0	TSNARE1	143379779	0.090000	0.21635	0.101000	0.21167	0.299000	0.27559	0.822000	0.27352	0.097000	0.17492	0.655000	0.94253	CGG		0.632	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		6	60	0	0	0	1	0	6	60				
N4BP1	9683	broad.mit.edu	37	16	48595377	48595377	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:48595377C>G	ENST00000262384.3	-	2	1413	c.1177G>C	c.(1177-1179)Gaa>Caa	p.E393Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	393					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TCTCTGTCTTCTTGGAATCTT	0.358																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(1177-1179)Gaa>Caa		NEDD4 binding protein 1							47.0	45.0	46.0					16																	48595377		1822	4075	5897	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595377C>G	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1177G>C	16.37:g.48595377C>G	ENSP00000262384:p.Glu393Gln					RP11-44I10.3_ENST00000563994.1_RNA	p.E393Q	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	1413	-		all_cancers(37;0.179)|all_lung(18;0.11)	393					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1177G>C	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567738	0.28003	.	.	ENSG00000102921	ENST00000262384	T	0.48522	0.81	5.78	4.81	0.61882	.	0.901190	0.09967	N	0.732627	T	0.33235	0.0856	N	0.24115	0.695	0.27378	N	0.955487	P	0.38250	0.624	B	0.39706	0.307	T	0.13791	-1.0496	10	0.15952	T	0.53	-5.8669	6.4898	0.22109	0.0:0.7031:0.1816:0.1153	.	393	O75113	N4BP1_HUMAN	Q	393	ENSP00000262384:E393Q	ENSP00000262384:E393Q	E	-	1	0	N4BP1	47152878	0.976000	0.34144	0.976000	0.42696	0.989000	0.77384	1.484000	0.35508	1.414000	0.47017	0.655000	0.94253	GAA		0.358	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		12	101	0	0	0	1	0	12	101				
QDPR	5860	broad.mit.edu	37	4	17513673	17513673	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:17513673G>A	ENST00000281243.5	-	1	184	c.5C>T	c.(4-6)gCg>gTg	p.A2V	QDPR_ENST00000428702.2_Missense_Mutation_p.A2V|QDPR_ENST00000513615.1_Missense_Mutation_p.A2V|QDPR_ENST00000508623.1_Missense_Mutation_p.A2V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	2					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CGCCGCCGCCGCCATCCTGCT	0.766																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(4-6)gCg>gTg		quinoid dihydropteridine reductase	NADH(DB00157)						6.0	9.0	8.0					4																	17513673		1743	3510	5253	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17513673G>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.5C>T	4.37:g.17513673G>A	ENSP00000281243:p.Ala2Val					QDPR_ENST00000508623.1_Missense_Mutation_p.A2V|QDPR_ENST00000513615.1_Missense_Mutation_p.A2V|QDPR_ENST00000428702.2_Missense_Mutation_p.A2V	p.A2V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			1	184	-			2					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.5C>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402965	0.83230	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	D;D;D;D	0.97888	-2.85;-3.61;-4.59;-3.11	3.76	3.76	0.43208	.	1.277620	0.06175	U	0.678331	D	0.97476	0.9174	N	0.19112	0.55	0.29016	N	0.886586	D;D	0.76494	0.999;0.998	D;P	0.76071	0.987;0.768	D	0.93917	0.7202	10	0.36615	T	0.2	-0.6845	15.3895	0.74731	0.0:0.0:1.0:0.0	.	2;2	B3KW71;P09417	.;DHPR_HUMAN	V	2	ENSP00000422759:A2V;ENSP00000281243:A2V;ENSP00000390944:A2V;ENSP00000426377:A2V	ENSP00000281243:A2V	A	-	2	0	QDPR	17122771	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.133000	0.42093	1.939000	0.56221	0.650000	0.86243	GCG		0.766	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		5	27	0	0	0	1	0	5	27				
LARP1	23367	broad.mit.edu	37	5	154173460	154173460	+	Silent	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:154173460G>A	ENST00000336314.4	+	6	762	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	323					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGAGACATCGAGTGTGAAGA	0.701																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(736-738)tcG>tcA		La ribonucleoprotein domain family, member 1							56.0	68.0	64.0					5																	154173460		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154173460G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.738G>A	5.37:g.154173460G>A							p.S246S	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		6	762	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	323					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.738G>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391827	0.25118	.	.	ENSG00000155506	ENST00000518194	.	.	.	5.8	3.77	0.43336	.	.	.	.	.	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52071	-0.8624	4	.	.	.	-6.2342	7.8952	0.29702	0.0969:0.3733:0.5298:0.0	.	.	.	.	K	85	.	.	E	+	1	0	LARP1	154153653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.852000	0.27764	2.735000	0.93741	0.655000	0.94253	GAG		0.701	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		19	124	0	0	0	1	0	19	124				
OR2T2	401992	broad.mit.edu	37	1	248616785	248616785	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:248616785G>A	ENST00000342927.3	+	1	709	c.687G>A	c.(685-687)atG>atA	p.M229I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCACAGGATGAACTCTGCTG	0.547																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(685-687)atG>atA		olfactory receptor, family 2, subfamily T, member 2							103.0	73.0	83.0					1																	248616785		2188	4258	6446	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616785G>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.687G>A	1.37:g.248616785G>A	ENSP00000343062:p.Met229Ile						p.M229I	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	709	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		229					B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.687G>A	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	g	3.079	-0.189392	0.06299	.	.	ENSG00000196240	ENST00000342927	T	0.00021	9.03	3.33	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.104023	0.42821	D	0.000647	T	0.00073	0.0002	N	0.26130	0.795	0.09310	N	1	P	0.35684	0.515	B	0.33392	0.163	T	0.17289	-1.0374	10	0.87932	D	0	.	7.4618	0.27300	0.0:0.4257:0.4171:0.1572	.	229	Q6IF00	OR2T2_HUMAN	I	229	ENSP00000343062:M229I	ENSP00000343062:M229I	M	+	3	0	OR2T2	246683408	0.000000	0.05858	0.229000	0.23960	0.010000	0.07245	-0.423000	0.07034	0.571000	0.29365	0.298000	0.19748	ATG		0.547	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		7	101	0	0	0	1	0	7	101				
TTC37	9652	broad.mit.edu	37	5	94839625	94839625	+	Missense_Mutation	SNP	T	T	A	rs531584176		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:94839625T>A	ENST00000358746.2	-	31	3408	c.3110A>T	c.(3109-3111)gAt>gTt	p.D1037V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1037						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GATAGCTTTATCATATTCACC	0.338													T|||	1	0.000199681	0.0	0.0014	5008	,	,		13302	0.0		0.0	False		,,,				2504	0.0					ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(3109-3111)gAt>gTt		tetratricopeptide repeat domain 37							91.0	92.0	92.0					5																	94839625		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94839625T>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3110A>T	5.37:g.94839625T>A	ENSP00000351596:p.Asp1037Val						p.D1037V	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			31	3408	-			1037					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3110A>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420424	0.62622	.	.	ENSG00000198677	ENST00000358746	T	0.58210	0.35	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);	0.147841	0.64402	D	0.000007	T	0.50514	0.1620	L	0.58810	1.83	0.80722	D	1	P	0.35780	0.52	B	0.32393	0.145	T	0.54193	-0.8330	10	0.54805	T	0.06	.	16.5265	0.84332	0.0:0.0:0.0:1.0	.	1037	Q6PGP7	TTC37_HUMAN	V	1037	ENSP00000351596:D1037V	ENSP00000351596:D1037V	D	-	2	0	TTC37	94865381	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.004000	0.63966	2.360000	0.80028	0.519000	0.50382	GAT		0.338	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		10	132	0	0	0	1	0	10	132				
VPS13D	55187	broad.mit.edu	37	1	12294403	12294403	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:12294403C>T	ENST00000358136.3	+	2	210	c.80C>T	c.(79-81)tCa>tTa	p.S27L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S27L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GACCAGCTCTCAGTTGCACTT	0.393																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(79-81)tCa>tTa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							123.0	113.0	116.0					1																	12294403		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12294403C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.80C>T	1.37:g.12294403C>T	ENSP00000350854:p.Ser27Leu					VPS13D_ENST00000356315.4_Missense_Mutation_p.S27L	p.S27L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	2	210	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	27						Missense_Mutation	SNP	ENST00000358136.3	37	c.80C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791497	0.90367	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	D;D	0.83673	-1.75;-1.75	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.91673	0.5352	10	0.66056	D	0.02	.	18.7028	0.91627	0.0:1.0:0.0:0.0	.	27;27	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	27	ENSP00000348666:S27L;ENSP00000350854:S27L	ENSP00000348666:S27L	S	+	2	0	VPS13D	12216990	1.000000	0.71417	0.931000	0.37212	0.867000	0.49689	7.207000	0.77899	2.742000	0.94016	0.650000	0.86243	TCA		0.393	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		7	107	0	0	0	1	0	7	107				
OR6S1	341799	broad.mit.edu	37	14	21109809	21109809	+	Silent	SNP	G	G	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr14:21109809G>A	ENST00000320704.3	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(40-42)ttC>ttT		olfactory receptor, family 6, subfamily S, member 1							113.0	120.0	117.0					14																	21109809		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109809G>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.42C>T	14.37:g.21109809G>A							p.F14F	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	41	-	all_cancers(95;0.00304)		14					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.42C>T	CCDS32038.1																																																																																				0.453	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			13	199	0	0	0	1	0	13	199				
OBSCN	84033	broad.mit.edu	37	1	228479702	228479702	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr1:228479702G>C	ENST00000422127.1	+	39	10487	c.10443G>C	c.(10441-10443)tgG>tgC	p.W3481C	OBSCN_ENST00000284548.11_Missense_Mutation_p.W3481C|OBSCN_ENST00000570156.2_Missense_Mutation_p.W3910C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W600C|OBSCN_ENST00000359599.6_Missense_Mutation_p.W2328C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W600C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3481	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTGGAGTGGAGGAAGGGGC	0.612																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11728-11730)tgG>tgC		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							80.0	80.0	80.0					1																	228479702		1999	4161	6160	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479702G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10443G>C	1.37:g.228479702G>C	ENSP00000409493:p.Trp3481Cys					OBSCN_ENST00000359599.6_Missense_Mutation_p.W2328C|OBSCN_ENST00000366709.4_Missense_Mutation_p.W600C|OBSCN_ENST00000422127.1_Missense_Mutation_p.W3481C|OBSCN_ENST00000366707.4_Missense_Mutation_p.W600C|OBSCN_ENST00000284548.11_Missense_Mutation_p.W3481C	p.W3910C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			44	11804	+		Prostate(94;0.0405)	2948			Ig-like 40.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11730G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471150	0.84533	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98760	1.0724	10	0.87932	D	0	.	18.701	0.91620	0.0:0.0:1.0:0.0	.	3481;3481	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3481;3481;600;600;2328	ENSP00000284548:W3481C;ENSP00000409493:W3481C;ENSP00000355668:W600C;ENSP00000355670:W600C;ENSP00000352613:W2328C	ENSP00000284548:W3481C	W	+	3	0	OBSCN	226546325	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.007000	0.76335	2.647000	0.89833	0.511000	0.50034	TGG		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		7	114	0	0	0	1	0	7	114				
LINC01250	101927554	broad.mit.edu	37	2	2910744	2910744	+	lincRNA	DEL	C	C	-			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr2:2910744delC	ENST00000457478.1	-	0	594																											cagccactcacccctacacct	0.692																																						ENST00000457478.1																			0																																																			101927554							g.chr2:2910744delC																													2.37:g.2910744delC														0	594	-									RNA	DEL	ENST00000457478.1	37																																																																																						0.692	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			4	6						4	6	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	104						7	104	---	---	---	---
PHAX	51808	broad.mit.edu	37	5	125939781	125939781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:125939781delA	ENST00000297540.4	+	2	1311	c.616delA	c.(616-618)aggfs	p.R206fs		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	206	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TGTCAAAGACAGGCTAGGGAA	0.423																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(616-618)ggfs		phosphorylated adaptor for RNA export							60.0	58.0	58.0					5																	125939781		2203	4300	6503	SO:0001589	frameshift_variant	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125939781delA	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.616delA	5.37:g.125939781delA	ENSP00000297540:p.Arg206fs						p.R206fs	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			2	1311	+			206			Necessary for interaction with CBP80 (By similarity).		Q9H8W1	Frame_Shift_Del	DEL	ENST00000297540.4	37	c.616delA	CCDS4138.1																																																																																				0.423	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		18	79						18	79	---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140953368	140953368	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr5:140953368delC	ENST00000398557.4	-	16	2189	c.2049delG	c.(2047-2049)gggfs	p.G683fs	DIAPH1_ENST00000389054.3_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000389057.5_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000520569.1_Frame_Shift_Del_p.G629fs|DIAPH1_ENST00000253811.6_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000398566.3_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000518047.1_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000398562.2_Frame_Shift_Del_p.G662fs	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	683	FH1.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAGCACTCCCAGGCAAAG	0.622																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2047-2049)ggfs		diaphanous-related formin 1							7.0	8.0	8.0					5																	140953368		1940	4092	6032	SO:0001589	frameshift_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140953368delC	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2049delG	5.37:g.140953368delC	ENSP00000381565:p.Gly683fs					DIAPH1_ENST00000518047.1_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000520569.1_Frame_Shift_Del_p.G629fs|DIAPH1_ENST00000398562.2_Frame_Shift_Del_p.G662fs|DIAPH1_ENST00000398557.4_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000398566.3_Frame_Shift_Del_p.G674fs|DIAPH1_ENST00000389054.3_Frame_Shift_Del_p.G683fs|DIAPH1_ENST00000389057.5_Frame_Shift_Del_p.G674fs	p.G683fs			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2189	-			683			FH1.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Frame_Shift_Del	DEL	ENST00000398557.4	37	c.2049delG	CCDS43374.1																																																																																				0.622	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		2	4						2	4	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	190						7	190	---	---	---	---
TBCEL	219899	broad.mit.edu	37	11	120918326	120918327	+	Frame_Shift_Ins	INS	-	-	A			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr11:120918326_120918327insA	ENST00000529397.1	+	3	323_324	c.223_224insA	c.(223-225)catfs	p.H75fs	TBCEL_ENST00000422003.2_Frame_Shift_Ins_p.H75fs	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	75						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTTCTGCGCTCATGTGTCGGAA	0.411																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(223-225)tgtfs		tubulin folding cofactor E-like																																				SO:0001589	frameshift_variant	219899					cytoplasm|cytoskeleton		g.chr11:120918326_120918327insA	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.224dupA	11.37:g.120918327_120918327dupA	ENSP00000437184:p.His75fs					TBCEL_ENST00000529397.1_Frame_Shift_Ins_p.C75fs	p.C75fs	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	3	411_412	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	75					Q0VAN6	Frame_Shift_Ins	INS	ENST00000529397.1	37	c.223_224insA	CCDS31692.1																																																																																				0.411	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		12	175						12	175	---	---	---	---
PDPK1	5170	broad.mit.edu	37	16	2611896	2611899	+	Frame_Shift_Del	DEL	CGAC	CGAC	-			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:2611896_2611899delCGAC	ENST00000342085.4	+	4	602_605	c.453_456delCGAC	c.(451-456)gacgacfs	p.DD151fs	PDPK1_ENST00000268673.7_Intron|PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs|RP11-20I23.8_ENST00000569852.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CATTTCAGGACGACGAGAAGCTGT	0.52																																						ENST00000342085.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	GRCh37	CD072462	PDPK1	D		c.(451-456)gafs		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)																																			SO:0001589	frameshift_variant	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2611896_2611899delCGAC	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.453_456delCGAC	16.37:g.2611896_2611899delCGAC	ENSP00000344220:p.Asp151fs					PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000268673.7_Intron|RP11-20I23.8_ENST00000569852.1_RNA|PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs	p.DD151fs	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN			4	602_605	+		Ovarian(90;0.17)	151			Protein kinase.		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Frame_Shift_Del	DEL	ENST00000342085.4	37	c.453_456delCGAC	CCDS10472.1																																																																																				0.520	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			3	3						3	3	---	---	---	---
AC009120.6	0	broad.mit.edu	37	16	74372178	74372178	+	RNA	DEL	C	C	-	rs66568538		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr16:74372178delC	ENST00000561921.1	-	0	0				RP11-252A24.2_ENST00000429810.2_RNA																							gtctggaactcctgacttcag	0.502																																						ENST00000429810.2																			0																																																			0							g.chr16:74372178delC																													16.37:g.74372178delC														0	2018	-									RNA	DEL	ENST00000561921.1	37																																																																																						0.502	AC009120.6-004	KNOWN	basic	antisense	antisense	OTTHUMT00000435713.1			3	6						3	6	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			10	61						10	61	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11097726	11097726	+	RNA	DEL	G	G	-	rs371150550		TCGA-WA-A7H4-01A-21D-A34J-08	TCGA-WA-A7H4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fe98ad-ea06-4565-bfe3-9f4220835c94	3b6cb478-482c-4391-b65e-3016b41a68a9	g.chr21:11097726delG	ENST00000470054.1	-	0	223							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCAGTTTCAGCGAAGGCACT	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11097726delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097726delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	223	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	38						9	38	---	---	---	---
